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. | Pathogenic; Leber congenital amaurosis 8 | CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA | CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCTGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA |
Task1_train_2402 | This variant affects gene CRB1 (crumbs cell polarity complex component 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Leber congenital amaurosis 8 | CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA | CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCTGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA 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Task1_train_2403 | 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. | Pathogenic; Retinitis pigmentosa 12 | CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA 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CCAACTATTGTCAAGGGTGGGTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCTGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACA 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Task1_train_2404 | 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? | Pathogenic; Retinitis pigmentosa | GTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCA | GTTGCTTCCTGGTTGAACGTCACACTTTCTGCCTAATGGCACAATGCATGGAACTCATCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGAGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCA 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Task1_train_2405 | A sequence alteration has been identified in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Leber congenital amaurosis 8 | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2406 | 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. | Pathogenic; Retinitis pigmentosa 12 | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2407 | Consider a variant on Chromosome 1 in gene CRB1 (crumbs cell polarity complex component 1). Determine its clinical classification and disease relevance. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2408 | 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. | Pathogenic; Retinitis pigmentosa 12 | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2409 | 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. | Pathogenic; Leber congenital amaurosis 8 | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2410 | 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? | Pathogenic; Retinitis pigmentosa 12 | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2411 | 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? | Pathogenic; Retinal dystrophy | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2412 | 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? | Pathogenic; Pigmented paravenous retinochoroidal atrophy | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2413 | 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. | Pathogenic; Leber congenital amaurosis 8 | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2414 | 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? | Pathogenic; Retinitis pigmentosa | TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGCGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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TCCAAAACCCTGGATTATTTTTCTCTGCCACTCACACATTGTTTCTATTTACAACAAATATCTCCCTGTCTTCTGATATTTATTAGTTTACAAAATTTATATTTGACATTTAAATTCAGATATATTTGAAATATAGAAAGAAAAGAAAGCTTAGAGTTTTCCTTCTTTTCCCAGGAGACTTTTCAACTGGAAAAACTTACATGATGCTAGATATTTCTAAAACATTGAACCTGTGTTCAGTAGATTCTATGCTTTCAAAGTCCTTAACCATCATTACTTAATTGACTAGATGTTAATGGATTTATTTTTACTTTTCATGCATTAATTAACCTCTAATAAAAATGCCAATGATGCTGATAATACATGTGTATCTATTGTTGACTGTTTAGTTCAACAGAGAAATAGGTGAGAAAGTGATGGAGTAGTTAGAGGAAGACAGAAAATAGTGGGCTATCTCCCATGGCCTAGGGAAATGTGACTTCCATCACATCCAAGGATATTGAAAAGCTATCCTCAAATAAATTGGCTTCTCTCCTGCCTTGGTTAAACCTTCAGCTTAATAGTGTCATCCTGGCAGGTTTTGAATGATGGATGGTGTGAACACTCTGGCCCACCCAAGACCGAGAATGCTTGGCAGGCTCCTGAGGGTTGTCAAGTTTTGCTCAGATCTAATCAGAGAAGTCTCCCTCCAGTCCAGAAGCATAAGCCAAAAAAGGAAAACAAAATGTCTCAGCTATGCTTGGTATCCAAAGGGATAAGGAGCTGTTTTTCTTGGAAGAAATCTTTGTTTTCCTTTATACCTTGGGCTGGCCTTGCCCCACTACCTCACCCCCTTTCATTTTGAGCCTAGTGATTAGTCTCTGACCCATACGTGCAAGTTTTACATTTTGGAAGGTGAGGGAAAGAATAAGGGAAAATTAAAAATTGTTTACATACAATTTCAACATTATAAGCTGCACTATAGAGATCTTGGAGCTAAGATTTTATATAAATTTTCAAAAGTAAAATAGCCGCCTTAGTTGCTGTTCTATCCCAAGGTCTTAGCAGAGTGTTTGTCACATAGTATGTGTTAAATAAATATCCACTGTGTGACTGAATACATGATTGGTGACTTAATCCATGAATATACAGAAAAACAAATTCTTGCTGGAAAATTAGTTTAAAAAAATGACAATATCCCAGGAAGAAGAAAACTTCAATTTACCTGAGACTTGATGTCACTTGTCTTGGAAAATTTGGCTTTTGAAAGTCATTCTACCTCAACATTTCAGAAATTATGCTTGGCTATTGGAACACAGATTTATTAGCAAGTACAATCTTCTAATTATTGATTTTTGCTTTTGTTATAAAAAAAGGATTTCCACAGAAAATAATTCAAAATCTCTCAGAATAAACCTCTCCTCTTCCTCCTCCTCCTCCTTCCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTCTCTTTGGTGGGCTTTTTCCTTAGCCTGAGGGCTCTGATGCATGAGGATCCTGATAGCCTGAATGTAGGTCTGCCCTGCAGACTCCAGATGGCAAAATACAGCCTCTCTCCTTGTGCCCCTAATAAACTGAACATTTATATAAGGTGGCAACCACACTAATGCTCTTGAGCATTGACACTGGTGTAGGCATGGCCCACTTTTCTCTTGGTTTCTAAATATTTGCATCTATTTTCTCATTCTAATTAATTCCGTGTGTATATGTATATATATGTGTACAGATTATTTCCATTAAACCCCAAATGTGTTAAAGAAATTTTAAGAAACATCTCCGACATTATCAAGTATGTATAAAGTATGTGTGGATGGGTAGATAAGACTGTGCTGTTCCAGAGAGATAAGGCAAACTTTTTCTTCCCATTTCACAACCAATGTATTCAACAGGGACCTGGGTTTCTGCTGTTCTGTTTATTTTGAAGGTGTGAAAAGGACATTGATGAGTGTGCCTCTGATCCGTGTGTCAATGGAGGTCTGTGCCAGGACTTACTCAACAAATTCCAGTGCCTCTGTGATGTTGCCTTTGCTGGCGAGTGCTGCGAGGTGGACGTAAGCAGCCTCTCCTTTTATGTCTCTCTCTTATTCTGGCAGAATCTTTTTCAGCTTCTTTCTTACCTCATTTTGCGTATGAATGACGAGCCAGTTGTTGAGTGGGGTGAACAGGAAGATTATTAACATACATTTGAACATTCCCAAATGAAAAAAAAAGCCATTGAATTTCAAGAAATGCCTTGATTCATTTTAGATCTCTGGGGAAGAAAAAGGAAATAAAAACCATCTCAATAATTAAGGTAAATTCAAGGCTTATTTTAAACATATCAGAAGCACTTTGTCTGTGTATAAAATATTTTCCTATTCTAACTTTAAATATGAAAAAAGTGTTCTTAATATAACTAGAAATATCTCCTTATTGTGTGTATTTAGTACAAACATATTATCATTCTCAACACTTCTATATGTGAATGACCACTGCAATTTCTTCCCACTCCATTTCTGGGTATTTTCACATTTTAAGTTGCCCTCCATCACTATGATTCTATTTTCATTTCTGTTCTTTCATTCTTATCTATTATTTATGACACAAAAATTGAGAATTACAGGCCAGGTGTGGTGGTTCACTCCTATAATCCCAGCACTATGGGAGGCTGAAGTGGGCGGAACACCTGAGGCCAGGAGTTTGAGACCAGCCTAGCCAACGTGGTGAAAACCTGTCTCTACTAAAAATACAAAAGTAACTGGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAAGCAGGAGACTTGCTTGAACCCAGGAGGCGGCCGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGGTGAGATTCTGTCTAAAAAAAAAAAAAAAAAAAGAGAGAATTACCGATTAAAATTACTGATTATATTCATCTATGTTTTTACATGAAGCTATTCAAATGAATTGTTACGTTTTCTCTGATATATGATTAAATATATAAAGAGAAATCAGGAATTTACATCGAGTCCCTAAATTGTAGAAAAACAATTATCTAGTATCAGTACTCAAATTATACCTCCCTGGTATAATTTCTGATTCCATAAAACTGTCTCTCTAACAAAGTTACAAATAATCCTTTCTCTATTTCCTTTCCTGCAATACTTTCCCTTTTCCTAACAAATAGAACAATTTTTCTGTTGTTTCTAAATTTATGAGCTCCTTGACTTTTCTATCAAATGGACTAATTTCAGTTGCTTTTCAATGAATATTTAATAAAAATAAGCACTGTAGTTTATACATAAATTTAAAAGTATATATTGTAAAACTTGAATTTTCTTAGAAGCATGGTTTTCTAAGATTTGCAAGTAAATTTATTTTCTTAAGTATCTTTCAGAAAAAAATATGAAAGCATAGTATACATCATAACCAAAATATATTTGACATTATGATTTTTTAAAATAAATGTATACCTGAAATAATGGATCTATAAAGTATACTAAGATATGCAAAAATTAATATATTCTTTATTATAAATATTTCAGAGATTATAAAATAATAATTTAAAAAAACTTTCTTAATGTTTTTATTGTTTCCACCAGTACGTTATCATTTATGCTAAATATCTTTGTGTAGATATACCCTTCCAAAGAAGACGTTATTTGTGTTCATTTAAAGGAAAAATAGTTTGATCCTATGAATTAATTCAGAAAGCAACTAAAATAACAATGGCCTGCCAAATGTCATTTTGTAAATATACGTCTATGACTTTAGGAGCTGTCCTGGTTTGAAAACATGAGGACAGTTTATCCATTGGATGCCATCTATTTAGTCCCAATTAAGAAAGTTGTTTTTTTGTGAGAATGACCAAGGTAAATTTAAATATACCATTCAAACAAACAAGGACAAAATAATATCCTTGTTATAGAGTACATGTAGCATATAGTATGAAGTAATATACTACAAAAGCAAAGAAAGTGTATTCTATCTTGCAATAGTAATAGACAATTTTTATATAGCAAATTCATATCCTTTGGAGTAGTGACAATCATTTCAAACTGGGAGCAACTAATTGTGAAGATTT 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Task1_train_2415 | 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? | Pathogenic; Macular dystrophy | ACATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCA 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ACATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCACCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCA 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Task1_train_2416 | 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? | Pathogenic; Leber congenital amaurosis 8 | CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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Task1_train_2417 | 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? | Pathogenic; Pigmented paravenous retinochoroidal atrophy | CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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Task1_train_2418 | 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. | Pathogenic; Retinitis pigmentosa 12 | CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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Task1_train_2419 | 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. | Pathogenic; Retinal dystrophy | CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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Task1_train_2420 | 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? | Pathogenic; Leber congenital amaurosis 8 | CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG | CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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Task1_train_2421 | 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? | Pathogenic; Retinitis pigmentosa 12 | CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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CATACACATTCATGGTCAATGTATTGGTCAATATAGTATTTTCTCTCACCAACTCTTTTCACCCTTTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCTCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAG 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Task1_train_2422 | 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; Leber congenital amaurosis 8 | TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC | TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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Task1_train_2423 | 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. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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Task1_train_2424 | 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. | Pathogenic; Retinitis pigmentosa 12 | TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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Task1_train_2425 | 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. | Pathogenic; Leber congenital amaurosis 8 | TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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Task1_train_2426 | 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. | Pathogenic; Retinitis pigmentosa 12 | TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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Task1_train_2427 | 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? | Pathogenic; Leber congenital amaurosis 8 | TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGGAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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TTCCCAATTCAAACATACACATTCGGTCACACTGGGTTTCTTACTCTTTCCCTAAATTCTAAGGACTTTTATGTCTTCTTGCGTTTTATGTTTTGTTTTTGTTTTTGTTTTGAGACAGAGTTTTGCTCTATCACCCAGGGTGGAGTGCAGTAGCCTGATCTCAGCTTACATCAACCTCCGCATCTCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTCGTTGGGATTACAGGCACCCACCACCATGCCCTGCTAATTTTTGTATATTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCTTCCGAAAGTGCTGGGATTACAGATATGAGCCACCGAGATTGTCTCATTAAAGTGGAATTTCCTCCTTGAAGTACTTGAGCATCCACTAATCCTTCAAAGGACAATCATGTCTCATTCCAATCTTGCTCCACCTACTCCTCAACACAATTAATTCATCACATGGTCATAACACCTATCTGTAATGTATTATGATTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTCTTCCTCTTCTCCTATCTCCAGAATTTGAGCTCCAGATTCCAAACTTTTATTTGTCTTTGTATTTTCATTTCCTAGCTCAGTAAATGCTCATAGTAAATGGTCAATAAGTATTGCTGATTGAATGCACAAACTAATGAACCACATTTGAGCAAGGATTATTGTGAGTAGATCCCAGACAATACTATGAAGCTGTTAAAATATTATATTAATTGTATAATAATTTAAACCAAGACACAGGGGACAATAAAAAGAGACTAAGGATAGAAAAGATATTTAAACTCTCTAGGATGTTAAACACAGATTTCATTTGTAATAGATTGGTTTGGTAACGTGGGGATGAGTCCTAGAGAAAGCTAAATAAGAAGGTAAAAGAGTTTACTACTGATTTACTCTGATAGAAATATGTCTTTGAAAAAATCAGTTTAAAAATTCAAACAGTAACTCCTTTCTGTCTTTAATATTTCTGTGCAACTCAGTCACAGTTTCATGTTAGCCATTGTTAAACTGATAAGAGCTCAGGTTTGCTAAAAAGTGTTTGCAAACACATCGGAATTAACATTAATCAAACCACTGTGTAAAAATAACAACTTTGAGAGCCCAGGATCCAGCTCCCTTTGACAGGGCTCTACCTGCCGTTGTCTGCTGCTAGATACTTGGATTCAGCGTTAAGCACATGTGCCTTTACAACCATTCAATTGCCATGTTGAATCCGAATCAGAGTGATTCCTTTGGAAACCCCCTGCGAGACCAGCGTATCACAGTCCCTCCTCTGTGTCAAGAATTTTTCCCACAAGACCCAACTAATTTAATTTCTTTCCTTTCCCAAAGCAACAAAACAAAACTGTAAAATAACCATTTCTTCAGTCCCAAATTAGAACTTTTGGCAAGGGAGGAAAGAGATCATGAATAATACGTGGCTATAGATCTAGAATCATTTTATAAATATAAGTGTGGGCTCATCTTTTGCCTTTGTTGCTACATGAATCATCTCAGTCACTGAGATTAAGAGACTGAGCAAATATAGTAGGTATTTCATGCCATATTTTCTGACTGTAGACTTTAGATTCTAGATATATGATTATTTGTAAATGATTTGAGAATAAGAAAATCTGACTTTCTTTTAATACCTTGGTCTTTTTACAGTACTGAGTGGTACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTTCCATTGTCCTGAATATTTATTTGCCTTTGCTATAGAATTCGCATCCCAATGATTTCAATCTTTCCAGTTGGCAGATGACTTGATCTCCGACATTTTCACCACTATTGGCTCAGTGACTGTCGCCTTGTTACTGATCCTCTTGCTGGCCATTGTTGCTTCTGTTGTCACCTCCAACAAAAGGGCAACTCAGGGAACCTACAGCCCCAGCCGTCAGGAGAAGGAGGGCTCCCGAGTGGAAATGTGGAACTTGATGCCACCCCCTGCAATGCAGAGACTGATTTAGGAGCATTGTGTCCCTTCGAGATGGGGATCCACACACTGTGAATGTGATGACTGTACTTCAGGTATCTCTGACATACCTGACAATGTTAATCTGCAACTGGGATTACACTGGAACTACAGGAATGATTCCTTTGACCACCTTAAAAACTTTCACAGTGGTTCCGCTCGACACCATTGTTTTATTATATTATATCAGCCAATTGCAAAAAAAGTCTGTGCCAGTAATTTCAGCCTTATAATTAGCAAAAACATCTTCCAGAGAATAAAGTCTTCTGTGGCTTTAGTGGCTATCACTGAAACTCTTTCCTCTTTTCAACCTGGGAACAAATTTTAGTTTTCATTTTAGGTTTCTGTACTTTCTGTAGTTTCTGTGTAAACTGCCATATGTTTACATGGAAACTACAGGAAAAAATTGGCTACATTTCTCACTTCTCCTATCATGTGGTCAAAGTTATTGTTGTATACCAGCGATGGGATGTATACTTTTGTCCTTCATTCATGGATTCAGAGAAAGCTCTGGGAATGACTTATGGTCCAAAAAAGTGACCCAATGGCAACAAATAAAAATTGAAATGCAGTTGTTCTCCTTTCTGAGTACTTTTTGCATTTTTGTGACATTATGTGTGACAAAAGTAACCTCTAGGAACATTTGAAGAACCTGCTTATGAATTAGACCTTTTACCTAAATCATTTCAAGTTGGTTACATTTTCAAATTATTACTCTTTGTAAAGGGTTGGTTAAGGCAAAACGCTTCCTAGATAGAAATCAAAACGGGGAAAACTCAGATTCTCAAGTTCGAAAAATCGAGTTCTTTTCTTCCAACTGCTTTTAGGTAAATCAGTGCCAAACAGTGACATTGTTTAAAGGTAAGAACTCCAAAGTTAAATGTATGCACTTTACGGAGTATGTGTTTTAAGACTATGGGATATTTGGAGAAAATGCTGGGGTTTCTATTCTTATATTTTCTTCTACAAAGCATCTGATTATATTTTTATATGTGCTTTGAAATATATGAAACATGCTACTGCTGTAGAATATAAATAAAACTTAAGAATAGATGCATATATATTCTGGGTATACACTCAACATGTCTAATGACATGAATTTTTAAATCTGGTCTAGAAGAACCCATCCATCTCAATTACTCAAGGACATCATTTCAGCAAGTGCCCTTCTCTTCTACATCATCAGTTTACCCATTGTCCTGGGGCATCCCTATCAGCACCAACATGCTGTCATATTTCCTATCATATAAAATTCTCTCCTGTGGCCCTCATCTCACTCCAATATCTACCCCATTCCTCAACACCCCTTTTCAGCAAAACATCTACAGAGGAGTTTTCTGTATTTTTGGTTTCCCTTTTCTTGTCTCTCATCCTCTCTGGAACTTAAACTAATTTGGCTTTTCTCATCACCACTCCATGACCTCCACATGGTCAAACACAATGTCCAGTCCTCAGTCCTCAGCTTACCTGACCTCTCCTAAGCATTTGAAACAATTGTCACTCCTCTTGAAATATTTTCCACACAATGGGACACCATTTCATCTTGATTTTCTTCTTACCTCACTGTCCATCCCCTCTCCATCTCTTTTGATAGTTTCCCCTCATTCCTTAAACTCTGCTTTATTTTTTTCCATACTGTTTATCACCACCTGAGAGACTGCGTATTTTTTTTTGTTGTTGTTGTTCTCAATTTTCTCTATCTAGAATTTAGGTTATATGAGGATAAGAACTATTTTTTTTTTTGACTCCAGTATCTCTCACCTGGAACAGGCCTAACCCATAGTGAAAACACAATAAATATTTTCTGGATAAATAAACAAATAATGAATGAATGGTGCTCAAATTTGTACCTGCCACCAGAGAAATCCCAAAGTGCCCAAGATTTGTGTGGGCTGTCATTGGATGCTCTGGTCATGAAACTATCATGGCTCTGTAGCCTATCTAATGTCTTACTCAATCTCAGGCTTTTTTATCCATATCTAATATTGCTTTAAGTGTAAGTTTAAGAAAAAGCATGTCTCCAGTGTC 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Task1_train_2428 | 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? | Pathogenic; Microcephaly 20, primary, autosomal recessive | GTCCCAGGCTTAACTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTAGTATTATAGGCATGAGCCACTGTACTCGGCCATTAATTTCTTATCTGCTCCTTTTGCATATCAAGGAATTTTTAAGAAGGAATTTGTTAATATGGTAGATGACTAAGTATTCTCCAATATCAATTTTCCACTTCTTCCACAGATCCCTTGATTTCTGGCTTGGCACATAGGTGTCCAGAATTTTTTTAAAAAATACATTTCCTCATGATACTTGCAGCTAGATGTAGTCAAATGATAAAATTCTAGCCAGATATATAAATAGATGTGGCATATGGTGATTTCCAGAAACCTCCCTTAAAAGAAGGCAAACTTCAGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGAGTGCCTGTAATCCTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCAGAGGGGCAGTGAGCCAAGATCACGCCACTGCACTCCAACCTGGGTGACAAGAGTGAGACTCCAGCTCAAAAAAAAAAAAAAAAAAAGGCAAACTTTGCCCTATCCTTCTCACCACTCCTTCCACCCTGCTGTGCTGAGCTCAGATGGGGCTCCTCCATAGTGGGTCATGAAATCAGGGGCTACACTTTGGGCATGGCGGATGGGACCAATGGGAGGAGCCTGGATCCTGAGGACTCTGTGGATCAGAGCCACTGTGTCTACATCTAGATTTTATGTGAGAGAGAATAAGCTTTCATCTTACTTCTTCTTACAGCCAAACCTAATCTTATCTGATACAAGATAAGCAGGAAAACAAAATTATTTCCTTGTCTCTATGTCAGCAGAATTGTGGCCAATTCAGTCTGAGTTGAAATCCAATCCCATACCCAGAGAAAGACTCTGTCTCTCTTCCCAGTATCCCTTATTGAGGGCCAGCATGGTATAATGGCAGAGCATGAACTGGGCCCAAGACTGCCTGGGTCCAAATCCAACTCAGTCATTTACTAGTTAGGTAACATTGGATGGTATATTTATTTTCCCTGTGCCTCCATTTCCTCATCTACAAGATGGTGATAACAACAGTGCCCACTGCTGGGGTTGTTATAAGGATTAAATGAGTTAATATTTGTAAATCACTTAGAACTACTCATACATAGAGAGCCATGTAAGTCTTTGTTTAACAAATCAATTACAGACAACCACAGTCTCAGAACTTCAAAACAGAATGTACTTTTGAAAATCATACAGAGCTAATTTTGGGGAAGATATAGACAGTAGAAAGCCAATAAATAATTATTAAATGAATCCTTCAAATGATAATAAGCAAATCAATTTACCTGCAAAAATAACTGTAAGTAGCCTCCCAGTTTTTTAACTTCTTGTCTCAACTCATCCTCAAGTCTTGCTATGTTGGTACAAGGCAGTAAATCACTCAGCCAGTGTTTCATTAGCACTACTAGCTGCTCAAAAGCACATGCAGTCTGAATAGTAAGTGACTGGATTGCTCGATCAGAAGAAAACACTTTGAAAGAAGAAGAAAAATTACTGAATGAAATATTATCCAAATAAAAGAACTCATATATGATCATCATTAAAACATTTAACACAGTTAAAAGATGCATGCCAGATGTGCCAAATAATCACTCAAAACAAAGTGCAATGTGCAGAAAATAATCATTTATGTGAGTTAACAAAAGCAGTGAGATTGCTTACAGTTATCTTGACTTTCTTCATCTTGTTCTTCATGAGCCTTGGAAATGGCAAATAGCCCATTATAAATTTTAAGAAAACTATTAATTAGGCTGTCTGCTATAGTTCTTTCTTCATCATAACTCTGTCCAAAAAAATCTAACGAAGAACCAATCAATTCTTTGCAAATTCCAGGAAGAAAGGACTCTGCTGAATTTGAGTAAATAGTGCTTGATTTGTCCATTAAACCTACATCAACAGAAAATAGCCATTTTAAGCTTGTTTTCAGGAATAATACTTTCTTTTTTAAAAAAAGGGATCCTTACTTTATGTACTTCTGCATTACTGAAATGTATTACAACAACAAAGCATTTTTGTGTTCACTGTGGAATTAGAAAAACAAAACTATTAGTATATATAACATCGTATGCTATGTTGTACTTGTAAGTATATCTTCCATGCTATACTTGTGTATGTTGATTTCCAGGGTGCTCCATAATGCTAATTCTGCAGAAACTACCCCTCTGCTGCTTGCAAATATTACTCGTATACTATTGCTCTTCCAAAAATGTTCAGGCATAATACTTTCAAACAAATGTTTTATTGCAAGCATATTATAGGATCACTGATCAATAAATTCAAAGTAGGCTATACTTATTTCAATTCAGCCTCATTTCTATATGCTAAAGTGAAAACACAATTCCATTCACGGATCAATTAACCTCTCAACCGCATCAATCCATAGATTTAGTAGCTCCCTGACTATACTATGAGACAATAGAGAATCCAAATATCCCACGTAACCACTGGGTTAATCTCTTTCTTTACTCTATGGTAGGAATTAATTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTAAGAGACAGGGTTGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGGGACCATCCTGGCTAACGTGGTGAAACCCCATCTCTATTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTTCCAGCTACCCGGGAGGCTGAGGCAGGAGAATTGCTTGAAGCCAGGAGGCGGAGGTTACAGTGAGCCGATATGGCACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAGAGAGACAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGTTACTCACAAGCGTGATCATAGCACACTGAGCCTCAAACTCCTGGGCTCAAGCAATCCCTTGGCCTCAGCGTCCACAGTAGGTGGGACAACAAGCATGTACCACTATGTCTGGTGGGATTAATTTTCCCTAAAGAACTGTAATTGATGAAAACAATGACAGTTACATAAAATTAGAAGTATAATTGGATTCATAAACTGGAAAAGTAGGCAATGATAAACTACATTAAAAGTAGTGTCTCAGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATGAAAAATCAGCCAGGCATGGTGGTGGGCGCCTGTAATTCCAGCTACCTGGGACGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAAAAAGAGCGAAACTCTGTCCTCAAAAAAAAAAAAACCATAATGTCTCAGTACTTCTACCTTACAATAGTTTCTCCTTGAGGTATACTACAATCAAGATAGGCTAAAACCGGCCGGGCACGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATATTTTTAAAAAATTAGCCGGGCCTGGTGGCAGGCGCCTGTAGCCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAAAGGCTAAAACCAACTGATTATCTACAGTTAATACAGCACATCTGTGAGGGATGGATTTTCTAAGCACTGTCTAAACCAGAAATAAATGAGAAGCTTGACTCATTCAGAGCCTCTGGAAATAACTTTATCCTGGAGTCCTAATATATTGAGTATAATTATTCTTATTTAA 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GTCCCAGGCTTAACTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTAGTATTATAGGCATGAGCCACTGTACTCGGCCATTAATTTCTTATCTGCTCCTTTTGCATATCAAGGAATTTTTAAGAAGGAATTTGTTAATATGGTAGATGACTAAGTATTCTCCAATATCAATTTTCCACTTCTTCCACAGATCCCTTGATTTCTGGCTTGGCACATAGGTGTCCAGAATTTTTTTAAAAAATACATTTCCTCATGATACTTGCAGCTAGATGTAGTCAAATGATAAAATTCTAGCCAGATATATAAATAGATGTGGCATATGGTGATTTCCAGAAACCTCCCTTAAAAGAAGGCAAACTTCAGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGGGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGAGTGCCTGTAATCCTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGCAGAGGGGCAGTGAGCCAAGATCACGCCACTGCACTCCAACCTGGGTGACAAGAGTGAGACTCCAGCTCAAAAAAAAAAAAAAAAAAAGGCAAACTTTGCCCTATCCTTCTCACCACTCCTTCCACCCTGCTGTGCTGAGCTCAGATGGGGCTCCTCCATAGTGGGTCATGAAATCAGGGGCTACACTTTGGGCATGGCGGATGGGACCAATGGGAGGAGCCTGGATCCTGAGGACTCTGTGGATCAGAGCCACTGTGTCTACATCTAGATTTTATGTGAGAGAGAATAAGCTTTCATCTTACTTCTTCTTACAGCCAAACCTAATCTTATCTGATACAAGATAAGCAGGAAAACAAAATTATTTCCTTGTCTCTATGTCAGCAGAATTGTGGCCAATTCAGTCTGAGTTGAAATCCAATCCCATACCCAGAGAAAGACTCTGTCTCTCTTCCCAGTATCCCTTATTGAGGGCCAGCATGGTATAATGGCAGAGCATGAACTGGGCCCAAGACTGCCTGGGTCCAAATCCAACTCAGTCATTTACTAGTTAGGTAACATTGGATGGTATATTTATTTTCCCTGTGCCTCCATTTCCTCATCTACAAGATGGTGATAACAACAGTGCCCACTGCTGGGGTTGTTATAAGGATTAAATGAGTTAATATTTGTAAATCACTTAGAACTACTCATACATAGAGAGCCATGTAAGTCTTTGTTTAACAAATCAATTACAGACAACCACAGTCTCAGAACTTCAAAACAGAATGTACTTTTGAAAATCATACAGAGCTAATTTTGGGGAAGATATAGACAGTAGAAAGCCAATAAATAATTATTAAATGAATCCTTCAAATGATAATAAGCAAATCAATTTACCTGCAAAAATAACTGTAAGTAGCCTCCCAGTTTTTTAACTTCTTGTCTCAACTCATCCTCAAGTCTTGCTATGTTGGTACAAGGCAGTAAATCACTCAGCCAGTGTTTCATTAGCACTACTAGCTGCTCAAAAGCACATGCAGTCTGAATAGTAAGTGACTGGATTGCTCGATCAGAAGAAAACACTTTGAAAGAAGAAGAAAAATTACTGAATGAAATATTATCCAAATAAAAGAACTCATATATGATCATCATTAAAACATTTAACACAGTTAAAAGATGCATGCCAGATGTGCCAAATAATCACTCAAAACAAAGTGCAATGTGCAGAAAATAATCATTTATGTGAGTTAACAAAAGCAGTGAGATTGCTTACAGTTATCTTGACTTTCTTCATCTTGTTCTTCATGAGCCTTGGAAATGGCAAATAGCCCATTATAAATTTTAAGAAAACTATTAATTAGGCTGTCTGCTATAGTTCTTTCTTCATCATAACTCTGTCCAAAAAAATCTAACGAAGAACCAATCAATTCTTTGCAAATTCCAGGAAGAAAGGACTCTGCTGAATTTGAGTAAATAGTGCTTGATTTGTCCATTAAAACTACATCAACAGAAAATAGCCATTTTAAGCTTGTTTTCAGGAATAATACTTTCTTTTTTAAAAAAAGGGATCCTTACTTTATGTACTTCTGCATTACTGAAATGTATTACAACAACAAAGCATTTTTGTGTTCACTGTGGAATTAGAAAAACAAAACTATTAGTATATATAACATCGTATGCTATGTTGTACTTGTAAGTATATCTTCCATGCTATACTTGTGTATGTTGATTTCCAGGGTGCTCCATAATGCTAATTCTGCAGAAACTACCCCTCTGCTGCTTGCAAATATTACTCGTATACTATTGCTCTTCCAAAAATGTTCAGGCATAATACTTTCAAACAAATGTTTTATTGCAAGCATATTATAGGATCACTGATCAATAAATTCAAAGTAGGCTATACTTATTTCAATTCAGCCTCATTTCTATATGCTAAAGTGAAAACACAATTCCATTCACGGATCAATTAACCTCTCAACCGCATCAATCCATAGATTTAGTAGCTCCCTGACTATACTATGAGACAATAGAGAATCCAAATATCCCACGTAACCACTGGGTTAATCTCTTTCTTTACTCTATGGTAGGAATTAATTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTAAGAGACAGGGTTGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGGGACCATCCTGGCTAACGTGGTGAAACCCCATCTCTATTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTTCCAGCTACCCGGGAGGCTGAGGCAGGAGAATTGCTTGAAGCCAGGAGGCGGAGGTTACAGTGAGCCGATATGGCACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAGAGAGACAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGTTACTCACAAGCGTGATCATAGCACACTGAGCCTCAAACTCCTGGGCTCAAGCAATCCCTTGGCCTCAGCGTCCACAGTAGGTGGGACAACAAGCATGTACCACTATGTCTGGTGGGATTAATTTTCCCTAAAGAACTGTAATTGATGAAAACAATGACAGTTACATAAAATTAGAAGTATAATTGGATTCATAAACTGGAAAAGTAGGCAATGATAAACTACATTAAAAGTAGTGTCTCAGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATGAAAAATCAGCCAGGCATGGTGGTGGGCGCCTGTAATTCCAGCTACCTGGGACGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAAAAAGAGCGAAACTCTGTCCTCAAAAAAAAAAAAACCATAATGTCTCAGTACTTCTACCTTACAATAGTTTCTCCTTGAGGTATACTACAATCAAGATAGGCTAAAACCGGCCGGGCACGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATATTTTTAAAAAATTAGCCGGGCCTGGTGGCAGGCGCCTGTAGCCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGCAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAAAGGCTAAAACCAACTGATTATCTACAGTTAATACAGCACATCTGTGAGGGATGGATTTTCTAAGCACTGTCTAAACCAGAAATAAATGAGAAGCTTGACTCATTCAGAGCCTCTGGAAATAACTTTATCCTGGAGTCCTAATATATTGAGTATAATTATTCTTATTTAA 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Task1_train_2429 | Consider a variant on Chromosome 1 in gene KIF14 (kinesin family member 14). Determine its clinical classification and disease relevance. | Pathogenic; Microcephaly 20, primary, autosomal recessive | AGCTGAGATGGTGCCACTACACTCCAGCCTGGGCAACAGAGCAAAACTCTGAAATCAAAAAATAAATAAATAAAGATTCATTACAAAGCTCAAGTAATTACGACCATGGGGTATTAGTAGGAAGAAACAGATTCTGATATTTTTAGAAATTTTTTGTAGGAGCACTACAGATTCCAAAAGAAGCAATAAACTATTTAATATTTGGTACTGGGAGAAATGGCTATTCATGTGGAAAATAAATGAATTTAGATCCCTAATTCACACCAAATAAAAAATTCCAGACATTCAATAACTTAAATGTGAAAGCAAAACTTCAAAACATCTAGAAGAAAATTTAGAACATCTCTATGACCTCAATGTACAACAGTCTTTTTTTTTTTTTTTTTTTTTGAGTTAGAGTCTCACTCTATTGCCTAGGGTGGAGTATAGCAGAGTCATCTTGGCTCACTGTAGCTTCCACCTCCCAGGTTCAAGTGATTCTTATGCCTCAGCCTCCCAAGTAGCTGAGACTATAGGTGCCCACCACCATGCCGGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATGTTGAACTCCTGGTCTCAAGTAATCTGCCGCCTCAGCCTCCCAAACTGTTAGGATTATAGGCGTGAGCCACCGCACCTGGCCAGAACACTCTATCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACATAGTCTCGCTCTGTCACTCAGGCTGAAGTACAGTGGCATGATGATCTCGGCACACTGCAACATCCACCTCCTAGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCAGGTACCACCACGCCCAGAAAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGACTCAAACTCCTGAGCCCACACACCTGTGCTAGGATTACAGGCATAAGCCACCACGCCCAGCCAGAACATTCTTTCTTTAAGACATAAAAACTGACAATCATAAAGGAAAAGACTGATGCCAGGTACTACAATAAAATTAAGAACTTCAATCAATCAAAGGCACCAGAGAGAGTAAAAAGATGTTACACGTTAGAAAAAAAGATATTTATACCAAAAAGCTCACGAAAGATTGGCAACTCCTACAAATTATTAAGAAATAAGCAAATCAGTTGAAAAATCAACAAAAGATATGAAGAGGCAAGTTACAATAGTAAACAAAAATGGCCAATCAACACATGAAAAGATGTTCAACCTTATTATTAATCAAAGAAATGTAAAATGAATCCATAATGATATACTATTTAGTGTTCATCAGATTGGCATAAAGTCTGACAGTACTAAGTATTGGCAACGATGTGGAGTAACAGGTATTCTCAAGGCCAATGGGAGTAAAAATTCATTTTGGAAAATAATTTGAAATTAGCTACTAAAGTTGAATATGCACATATTCTACAACCTAGTATCTCTACTCTCAGACATACAATTTAAAAGCACTTCCTAAACTTTATAAGAGATAAACTCATACAATGGAATACTTCATAGCAGTGAAAATAAAACAGGAACCAATGTACACAAATCTTGGAAACACAATGCAGAGTCAAAAAAGTTTACATACGCTATCATTCCAACAATATATACAAGTATTCCATTCATATGAACAAAATTCACATAAAGTAACATTTTTAAATTGGTCAATCCAACCAAAAATTCTGTTATGTAAGATAGATAGTTTACTTGCATGTGCATCATTATAATTGCAAGAAAATAAATTATTCTTCAATCAACAGATCAAGTATGCCAAAACAAAAACAGAGAGAGCATTACACTGTACTTTATATTGAGAGTAACTGACCTATCATCCTTATAACACACTCAGAATGTATGTTTTTCCTGACTAAACAATGGGTTTGAAGAATTCTACCAAACGATCAGTATCAACGAATATGCCATATGAAGGAAACCACATGTTATCAAGATATAGAACAGGTGCCTTTTCTTTTTTTTTAGAGGATTAACATACCAATGATCATCAGCAATCAGCACCCCAGATAACTGAATATCATGGCTTGAGTTTGGTTTATACTTTCCAACTGTAGTTGTTCCTTCTTTTATCATATATAGCAGCATCTCAGATAGTTGTGGATCTTCATTCAGATTAACAAGGTTTGGTAAATGATTGTCCATTTGAAACATAATTCCTGCTTTCTGGTAGAAGTCAGAAAAAGAAATTAATCTTAATCACAGTATGAAATTGTTAAATTCACCTAAAACAAATGGTCTATATTAAACATTAAAACAATTCTATATGAAGTCTCACTAAATTAAAGGTTATTTATTTATTTTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCGTCATGTTGATCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCGGCCATAAAGGTTTTTTAGACTCTCTCCTCCTTCCTTAGAATCTCTCCTTTGTGACCTCCCTACCTTCTTTGTCCTTCACCATCCTCAGTCTACTCATACATCAATCTATCATCACCAAATTGTGTCTTCTTATTGACTGACCGTCTTTAGAATAGATCAGTTTGTTTTGTTGCATCTTCATTGCCTTCACCACAGGCCCCTGTCAACTCACACCAAAACTACTGAAGCAGCCTCTTGATCACCGTCAACAGCTTCTGTTTTCAATCCATCTTATATCCTATGCCAGGTTAATTCTCTCGAAAGGGTGCTCTCAAAATGTAAATTCCCTGGTCACTTTTTAACAGCTTCTCACTTCCTACAGGATAAAACTTAATTTCCTTGGCCTGGAAATCAAGTCCTTCATAAACTAATCATAACATATCTTTCCAATTGTATCTCCTTATGATCTCATATAAACTGCTTCCAGTAAAACTGATCTACGTACCCTTTCTAAAGACAACTCAAACTTTTCTACCTTTACTTTCAGAGAATTTTCTCTTCCAAGAATGTGCTCTTCCTTTTCTCTTCCTATTAAAATCTTACCCAAACTTCAAAGCCCATCTCAAATGCCACCTCTTTTATGAGATTGGATTGGCCATGCGCAAGGAATTTTCCCTTCTTCTCCTGAATTCTTATAGTACTCCCCCACTACCAATCACTTGAAATACTTTTCATTACATTAGGTTCAACCATATGAAACTGCCAGTGTTCAACCATGCTTTACCTACAAAAATGGCAATTGCTTATGGCTCAATCTACTGAAATCACATTGCATTTCAGTCTTCTATTTACGTTTTGTAAATCTCTCTCTGGATCACAAGCTCTCTGAGGGATGAAACTGTGTTTAATCACCTTGGCTTCCCCTGTTCCTGAAAAGCATAGACATTTAATATATATTTGTAGAACCAAAGTAAATATAACAAGATGGTTTATTCATACTTTAACTTTCCAACTAGTTTATGGGCTGGCTCTAAGCAACCAGTCTTGATCTTAACATTTCTTTATATTAATTTTCCTTACGGTATTGCTTTGTACAGAGTCAGTATATAGTAAGTATTTGAAACATTAAATTTACATGCATTGGCATATTGGCAATATTTATTTCTTGGCATATTTCTTTTATTTTCTAATCAGTTTAGAAAGTTGAAATAATACCTGTAACTCTTTTGTTTCTTGAAGTTTTCTTTTTTCAGCTTGTTCAAACTTTTCTTTCCACACTCTTTCCAAAGACAAAGAAAATAACAGAGTTAAAAACATCCAGATGTATAAGATTGAGAGTCAAGAGACAATCAATGAAAATTAGGCAACTACCTAGTAATATTTAAAATATGATAATCTGGGAGTGGGCTGCTCTATTCATAAGGAAGGTCGGAAAAATACTCAGTATCCTCTTG 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AGCTGAGATGGTGCCACTACACTCCAGCCTGGGCAACAGAGCAAAACTCTGAAATCAAAAAATAAATAAATAAAGATTCATTACAAAGCTCAAGTAATTACGACCATGGGGTATTAGTAGGAAGAAACAGATTCTGATATTTTTAGAAATTTTTTGTAGGAGCACTACAGATTCCAAAAGAAGCAATAAACTATTTAATATTTGGTACTGGGAGAAATGGCTATTCATGTGGAAAATAAATGAATTTAGATCCCTAATTCACACCAAATAAAAAATTCCAGACATTCAATAACTTAAATGTGAAAGCAAAACTTCAAAACATCTAGAAGAAAATTTAGAACATCTCTATGACCTCAATGTACAACAGTCTTTTTTTTTTTTTTTTTTTTTGAGTTAGAGTCTCACTCTATTGCCTAGGGTGGAGTATAGCAGAGTCATCTTGGCTCACTGTAGCTTCCACCTCCCAGGTTCAAGTGATTCTTATGCCTCAGCCTCCCAAGTAGCTGAGACTATAGGTGCCCACCACCATGCCGGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATGTTGAACTCCTGGTCTCAAGTAATCTGCCGCCTCAGCCTCCCAAACTGTTAGGATTATAGGCGTGAGCCACCGCACCTGGCCAGAACACTCTATCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACATAGTCTCGCTCTGTCACTCAGGCTGAAGTACAGTGGCATGATGATCTCGGCACACTGCAACATCCACCTCCTAGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCAGGTACCACCACGCCCAGAAAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGACTCAAACTCCTGAGCCCACACACCTGTGCTAGGATTACAGGCATAAGCCACCACGCCCAGCCAGAACATTCTTTCTTTAAGACATAAAAACTGACAATCATAAAGGAAAAGACTGATGCCAGGTACTACAATAAAATTAAGAACTTCAATCAATCAAAGGCACCAGAGAGAGTAAAAAGATGTTACACGTTAGAAAAAAAGATATTTATACCAAAAAGCTCACGAAAGATTGGCAACTCCTACAAATTATTAAGAAATAAGCAAATCAGTTGAAAAATCAACAAAAGATATGAAGAGGCAAGTTACAATAGTAAACAAAAATGGCCAATCAACACATGAAAAGATGTTCAACCTTATTATTAATCAAAGAAATGTAAAATGAATCCATAATGATATACTATTTAGTGTTCATCAGATTGGCATAAAGTCTGACAGTACTAAGTATTGGCAACGATGTGGAGTAACAGGTATTCTCAAGGCCAATGGGAGTAAAAATTCATTTTGGAAAATAATTTGAAATTAGCTACTAAAGTTGAATATGCACATATTCTACAACCTAGTATCTCTACTCTCAGACATACAATTTAAAAGCACTTCCTAAACTTTATAAGAGATAAACTCATACAATGGAATACTTCATAGCAGTGAAAATAAAACAGGAACCAATGTACACAAATCTTGGAAACACAATGCAGAGTCAAAAAAGTTTACATACGCTATCATTCCAACAATATATACAAGTATTCCATTCATATGAACAAAATTCACATAAAGTAACATTTTTAAATTGGTCAATCCAACCAAAAATTCTGTTATGTAAGATAGATAGTTTACTTGCATGTGCATCATTATAATTGCAAGAAAATAAATTATTCTTCAATCAACAGATCAAGTATGCCAAAACAAAAACAGAGAGAGCATTACACTGTACTTTATATTGAGAGTAACTGACCTATCATCCTTATAACACACTCAGAATGTATGTTTTTCCTGACTAAACAATGGGTTTGAAGAATTCTACCAAACGATCAGTATCAACGAATATGCCATATGAAGGAAACCACATGTTATCAAGATATAGAACAGGTGCCTTTTCTTTTTTTTTAGAGGATTAACATACCAATCATCATCAGCAATCAGCACCCCAGATAACTGAATATCATGGCTTGAGTTTGGTTTATACTTTCCAACTGTAGTTGTTCCTTCTTTTATCATATATAGCAGCATCTCAGATAGTTGTGGATCTTCATTCAGATTAACAAGGTTTGGTAAATGATTGTCCATTTGAAACATAATTCCTGCTTTCTGGTAGAAGTCAGAAAAAGAAATTAATCTTAATCACAGTATGAAATTGTTAAATTCACCTAAAACAAATGGTCTATATTAAACATTAAAACAATTCTATATGAAGTCTCACTAAATTAAAGGTTATTTATTTATTTTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCGTCATGTTGATCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCGGCCATAAAGGTTTTTTAGACTCTCTCCTCCTTCCTTAGAATCTCTCCTTTGTGACCTCCCTACCTTCTTTGTCCTTCACCATCCTCAGTCTACTCATACATCAATCTATCATCACCAAATTGTGTCTTCTTATTGACTGACCGTCTTTAGAATAGATCAGTTTGTTTTGTTGCATCTTCATTGCCTTCACCACAGGCCCCTGTCAACTCACACCAAAACTACTGAAGCAGCCTCTTGATCACCGTCAACAGCTTCTGTTTTCAATCCATCTTATATCCTATGCCAGGTTAATTCTCTCGAAAGGGTGCTCTCAAAATGTAAATTCCCTGGTCACTTTTTAACAGCTTCTCACTTCCTACAGGATAAAACTTAATTTCCTTGGCCTGGAAATCAAGTCCTTCATAAACTAATCATAACATATCTTTCCAATTGTATCTCCTTATGATCTCATATAAACTGCTTCCAGTAAAACTGATCTACGTACCCTTTCTAAAGACAACTCAAACTTTTCTACCTTTACTTTCAGAGAATTTTCTCTTCCAAGAATGTGCTCTTCCTTTTCTCTTCCTATTAAAATCTTACCCAAACTTCAAAGCCCATCTCAAATGCCACCTCTTTTATGAGATTGGATTGGCCATGCGCAAGGAATTTTCCCTTCTTCTCCTGAATTCTTATAGTACTCCCCCACTACCAATCACTTGAAATACTTTTCATTACATTAGGTTCAACCATATGAAACTGCCAGTGTTCAACCATGCTTTACCTACAAAAATGGCAATTGCTTATGGCTCAATCTACTGAAATCACATTGCATTTCAGTCTTCTATTTACGTTTTGTAAATCTCTCTCTGGATCACAAGCTCTCTGAGGGATGAAACTGTGTTTAATCACCTTGGCTTCCCCTGTTCCTGAAAAGCATAGACATTTAATATATATTTGTAGAACCAAAGTAAATATAACAAGATGGTTTATTCATACTTTAACTTTCCAACTAGTTTATGGGCTGGCTCTAAGCAACCAGTCTTGATCTTAACATTTCTTTATATTAATTTTCCTTACGGTATTGCTTTGTACAGAGTCAGTATATAGTAAGTATTTGAAACATTAAATTTACATGCATTGGCATATTGGCAATATTTATTTCTTGGCATATTTCTTTTATTTTCTAATCAGTTTAGAAAGTTGAAATAATACCTGTAACTCTTTTGTTTCTTGAAGTTTTCTTTTTTCAGCTTGTTCAAACTTTTCTTTCCACACTCTTTCCAAAGACAAAGAAAATAACAGAGTTAAAAACATCCAGATGTATAAGATTGAGAGTCAAGAGACAATCAATGAAAATTAGGCAACTACCTAGTAATATTTAAAATATGATAATCTGGGAGTGGGCTGCTCTATTCATAAGGAAGGTCGGAAAAATACTCAGTATCCTCTTG 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Task1_train_2430 | 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. | Pathogenic; Orofaciodigital syndrome V | TGGCAACACTGGGACCAAATTTTTTTAAAAGTCTAATGTTCTGGTCTCTAAAATACATAATTGAGGAAACCACTGCATTGCTGCACCCCAGACAACAGAAGAGCAGACATGTGAGACAAGGAAGTTGCCAAAGGAAAGATCTTAAGGAATGAGAAGCAGAAGTCAAGATTCAGAGAGGCAGGAAGAACCAGTAACAGGAGTCTGAAAATTGTGTGGCGAGAGGGAAGTAAAGGGAAGGGCGCTGATAGCCGGCTTCTCCCCTATTGGGTATTTGACATATGCAACTGCGCTTAACTCTCATAATAAGCCTGTGAGTTAGGGGCTCTTTCCTCCACCTCTAACTCATCACCTGGCCTTAAGAAAGTGTGGGTTTCAAGAAGGGTGGCCCACAATGACCGACGCAATAAAAAAGTTTAAAGTGAGAGCTGGCAGAACATGTGGTTTAAGAAGGTCAACAGAGACCACGGGAAGATCATGTATGTACAGTGGTGGGAAGAAGCCAGACTGCCAGCAAATTAAGTAAACCAGTGGGGTTATACTATAGCTAATATTTTTTTGCATTACTACAGTCTCTCAAATAATATTATTTTTGTTAAAATAATAGTTTCCTTTCCAGAACTTTGGCAGGCAGAGGCAGGAGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACATAGTGAGACAACGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTGGAGCCTGGGAGGTTAAGGCTGTAGTGAGCCATGATCATGCCACTGCACTCCAGTATAGGGTGACAGGGTGAGATGCTATCTCAAAAAAACAAAACAAAACTACATATCCTGTAAATGCTGTTTTTCTGGCCATGCCACTTTTATTTATAAACAAGTAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGCGGATCACAAAGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGAAAGGGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAACAAAAACAAAAACAAAAACAAACAAAAAACCTATTAATTGAATTAGCAGGGCAACATTCATTCAATAACACAATGACATTATTTTGATAAGTAGCCTATCTTATTTTTAAAACAGCATTAACCAAGCAGAAGGTAAAACAACTGAGAATGAAAGTAGACATTTCATATTTATCTTTCAAAAGTGGTTCTGAAAATTTCTTCCAGTTTCTATCATTTACATTTTTCCTAATTCTCATTTATTCAACAGTAATTTAAGTGCCAATGTGCTTGTGGAACTGTGGGGGAACCAAGTAAAACAATCACTGATCCGAGTCAGAGTCTTTGTGGAGGTTTCTGGTTCTGACAGTAGCTCTGAGGACTGTTTATTTTAAAAAGAAAAAAGAAACTTCATCCAGAAAAGAAAACACTGTCTTTTATTTAATAATTCATTTTCTGATGTTTTTAATTTATAAGAATTAAGGGAAATAAATACAATATAGTTATATAAATTTTATTAAATTAAAAATATCTTAAAATTTTTAAAATTCATGTACATTTCCATTTATGCAAACCATAATTTTTTGCTGACTATATACAATAAAAAAAAATATTCAAGTGGCAGAGAAAATCATTTCTGAGAATTACTTTTATCATGTTTTCTGATAATATCCATAAGATTAGCTCCTGTAACCAGATCATTCTGTGTCTGTTTATCTTTCTGTTGTTCCTTTCTCTTCTGGTCATGAAGGTATGGGGAATTTAATAACTGAGGGGGAAGAATGGATCCTGTGGGCTTTACTCGTTTTGCAATATCCCAGAAGAGTCTTTTTGAATTATTATTGATGAAAGTAATCGCTGTTCCATTTTGACCTAATCTTCCTACTCTTCCAATCTGAAATAAAATGCAAAGAACATTTTCAAGATGTCCATGTAAAATCTTAGTGTCTTTTGAAAGAAAATGAATAATATTACTTAAAGTAGCATTACTGGCTGGGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGCAAAATCCTGTCTCTACTAAAAACACAAAAATTAGCCAGGCATGGTGGCAAACACCTGTAAATTCTAGCTACTTGGGAGGCTGAGGCAAAAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAAAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGAGCTTTACTAAGATTAACCTTCATCCAGACAGCATTTTTTGAATTATGCATCTCAATATATCTGTGAAATCAATTTAGTAGGCCTCCACCAGCATATTTTTAATGGAACAGACCAAACAGAAAATAAGAGAGTGATCACATAAAATAAAAGTAAGTATCATTTGTGAAACTTGTGTTTTAGTTATACCTGTATGGGTGGTGTTGGGGGTAATGACATAAAGATGTTTCTTATTGTGGGTGGGTTAAGGTCAAAAAATTCTGAAAGCCCCTGCATTAAGAGCAAGAGGACTATTTACTTCCAAGGCTACTTAAGAGGCCTTGAAATGTGAGATTTATACTAAATCATCTTTGCATAAAGTTATTTGTCTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGCGCAATGGTGCAATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATATCTGGATAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGACCAGGCTGGTCTTAAACTCCTGACCTTGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCCCGGCTAGTTATTTCTCATGTTGAGAGAATTAAATGGACACAAATTTATGGAGTATCAATAAGGCACAAAACCTACTTGTCTCCAAATAGATAATGAAAATATACTAAGAAACTCTTCAAAAGAGGGGGAAAATACACAATCATGGTCAATTTCTGCTCCTTAACTGAAATGTAAAACTTAAAGTCTATATTCAGAAATATTTAAATGAGTAGACAGTTTCTGCTAATACAGAGGGCATTTTTAACACTGTAAAAGAAACTTCTAAAAAAGTTAAGAAGGGAAGCCTCTAGGGAATGAGACAGAGGAGAAGAGAGGCAAGCAAATATTGTTTTTCAGTAACAGCTTTTATTTATACCTGACTTAATTAAATTACTGAATTGTTCCAATAAAAATAAAAATAAAAAAGTAGTTATTTCTCTATAAAAGTCCACAGAAAAACAAGTAGAAATAAAAAAATTCAAAAAGACAAAGAAAAGATTATACAAAGTAGCTTCAGGCTGGACATGGCGGCTCATGCCTATAATCCCAGCATTTTGAGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGGTTCAAGACCAGCCAGGGCAACATAGCAATACCCCATCTCTACAAAAAACAGAAAAATTAGCCAGGTGTGGTGGCATGTACTTGTAGTCCCAGCTACTCAGGAGGCTGAGATGGAAGAATCGCCTGAGTCCATGCATTCAAGGTTACAGTGAGCTATGACTGTGCCACTGTACTCCAGCCCGGGCAACAGAAGGAGACCCCGTCTCTTAAAAAAACAAACAAACAAAAAAAAAACTTGCAAATCATGTTTTTGGCAAGTCTTCTAGAGTATACAAAGAACTTTCACAACTCAAAAATAAAAACCCAATTTAAAAATGGACAACAAATTTGAATAGACATTTCTCCAAAGAAGTTACAAAAATGATCAATAAGTACATGACATAATGTTCAACATCATTAGTCATTAAAGAAATGCAAGTCAAAATATAAGGAGG 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TGGCAACACTGGGACCAAATTTTTTTAAAAGTCTAATGTTCTGGTCTCTAAAATACATAATTGAGGAAACCACTGCATTGCTGCACCCCAGACAACAGAAGAGCAGACATGTGAGACAAGGAAGTTGCCAAAGGAAAGATCTTAAGGAATGAGAAGCAGAAGTCAAGATTCAGAGAGGCAGGAAGAACCAGTAACAGGAGTCTGAAAATTGTGTGGCGAGAGGGAAGTAAAGGGAAGGGCGCTGATAGCCGGCTTCTCCCCTATTGGGTATTTGACATATGCAACTGCGCTTAACTCTCATAATAAGCCTGTGAGTTAGGGGCTCTTTCCTCCACCTCTAACTCATCACCTGGCCTTAAGAAAGTGTGGGTTTCAAGAAGGGTGGCCCACAATGACCGACGCAATAAAAAAGTTTAAAGTGAGAGCTGGCAGAACATGTGGTTTAAGAAGGTCAACAGAGACCACGGGAAGATCATGTATGTACAGTGGTGGGAAGAAGCCAGACTGCCAGCAAATTAAGTAAACCAGTGGGGTTATACTATAGCTAATATTTTTTTGCATTACTACAGTCTCTCAAATAATATTATTTTTGTTAAAATAATAGTTTCCTTTCCAGAACTTTGGCAGGCAGAGGCAGGAGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACATAGTGAGACAACGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGTTGGAGCCTGGGAGGTTAAGGCTGTAGTGAGCCATGATCATGCCACTGCACTCCAGTATAGGGTGACAGGGTGAGATGCTATCTCAAAAAAACAAAACAAAACTACATATCCTGTAAATGCTGTTTTTCTGGCCATGCCACTTTTATTTATAAACAAGTAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGCGGATCACAAAGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGAAAGGGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAACAAAAACAAAAACAAAAACAAACAAAAAACCTATTAATTGAATTAGCAGGGCAACATTCATTCAATAACACAATGACATTATTTTGATAAGTAGCCTATCTTATTTTTAAAACAGCATTAACCAAGCAGAAGGTAAAACAACTGAGAATGAAAGTAGACATTTCATATTTATCTTTCAAAAGTGGTTCTGAAAATTTCTTCCAGTTTCTATCATTTACATTTTTCCTAATTCTCATTTATTCAACAGTAATTTAAGTGCCAATGTGCTTGTGGAACTGTGGGGGAACCAAGTAAAACAATCACTGATCCGAGTCAGAGTCTTTGTGGAGGTTTCTGGTTCTGACAGTAGCTCTGAGGACTGTTTATTTTAAAAAGAAAAAAGAAACTTCATCCAGAAAAGAAAACACTGTCTTTTATTTAATAATTCATTTTCTGATGTTTTTAATTTATAAGAATTAAGGGAAATAAATACAATATAGTTATATAAATTTTATTAAATTAAAAATATCTTAAAATTTTTAAAATTCATGTACATTTCCATTTATGCAAACCATAATTTTTTGCTGACTATATACAATAAAAAAAAATATTCAAGTGGCAGAGAAAATCATTTCTGAGAATTACTTTTATCATGTTTTCTGATAATATCCATAAGATTAGCTCCTGTAACCAGATCATTCTGTGTCTGTTTATCTTTCTGTTGTTCCTTTCTCTTCTGGTCATGAAGGTATGGGGAATTTAATAACTGAGGGGGAAGAATGGATCCTGTGGGCTTTACTCGTTTTGCAATATCCCAGAAGAGTCTTTTTGAATTATTATTGATGAAAGTAATCGCTGTTCCATTTTGACCTAATCTTCCTACTCTTCTAATCTGAAATAAAATGCAAAGAACATTTTCAAGATGTCCATGTAAAATCTTAGTGTCTTTTGAAAGAAAATGAATAATATTACTTAAAGTAGCATTACTGGCTGGGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGCAAAATCCTGTCTCTACTAAAAACACAAAAATTAGCCAGGCATGGTGGCAAACACCTGTAAATTCTAGCTACTTGGGAGGCTGAGGCAAAAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAAAAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGAGCTTTACTAAGATTAACCTTCATCCAGACAGCATTTTTTGAATTATGCATCTCAATATATCTGTGAAATCAATTTAGTAGGCCTCCACCAGCATATTTTTAATGGAACAGACCAAACAGAAAATAAGAGAGTGATCACATAAAATAAAAGTAAGTATCATTTGTGAAACTTGTGTTTTAGTTATACCTGTATGGGTGGTGTTGGGGGTAATGACATAAAGATGTTTCTTATTGTGGGTGGGTTAAGGTCAAAAAATTCTGAAAGCCCCTGCATTAAGAGCAAGAGGACTATTTACTTCCAAGGCTACTTAAGAGGCCTTGAAATGTGAGATTTATACTAAATCATCTTTGCATAAAGTTATTTGTCTTTTTTTTTTGAGGCGGAGTCTCACTCTGTTGCCCAGGCTGGAGCGCAATGGTGCAATGTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATATCTGGATAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGACCAGGCTGGTCTTAAACTCCTGACCTTGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCCCGGCTAGTTATTTCTCATGTTGAGAGAATTAAATGGACACAAATTTATGGAGTATCAATAAGGCACAAAACCTACTTGTCTCCAAATAGATAATGAAAATATACTAAGAAACTCTTCAAAAGAGGGGGAAAATACACAATCATGGTCAATTTCTGCTCCTTAACTGAAATGTAAAACTTAAAGTCTATATTCAGAAATATTTAAATGAGTAGACAGTTTCTGCTAATACAGAGGGCATTTTTAACACTGTAAAAGAAACTTCTAAAAAAGTTAAGAAGGGAAGCCTCTAGGGAATGAGACAGAGGAGAAGAGAGGCAAGCAAATATTGTTTTTCAGTAACAGCTTTTATTTATACCTGACTTAATTAAATTACTGAATTGTTCCAATAAAAATAAAAATAAAAAAGTAGTTATTTCTCTATAAAAGTCCACAGAAAAACAAGTAGAAATAAAAAAATTCAAAAAGACAAAGAAAAGATTATACAAAGTAGCTTCAGGCTGGACATGGCGGCTCATGCCTATAATCCCAGCATTTTGAGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGGTTCAAGACCAGCCAGGGCAACATAGCAATACCCCATCTCTACAAAAAACAGAAAAATTAGCCAGGTGTGGTGGCATGTACTTGTAGTCCCAGCTACTCAGGAGGCTGAGATGGAAGAATCGCCTGAGTCCATGCATTCAAGGTTACAGTGAGCTATGACTGTGCCACTGTACTCCAGCCCGGGCAACAGAAGGAGACCCCGTCTCTTAAAAAAACAAACAAACAAAAAAAAAACTTGCAAATCATGTTTTTGGCAAGTCTTCTAGAGTATACAAAGAACTTTCACAACTCAAAAATAAAAACCCAATTTAAAAATGGACAACAAATTTGAATAGACATTTCTCCAAAGAAGTTACAAAAATGATCAATAAGTACATGACATAATGTTCAACATCATTAGTCATTAAAGAAATGCAAGTCAAAATATAAGGAGG 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Task1_train_2431 | 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? | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | CACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAAC 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CACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCTTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAAC 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Task1_train_2432 | 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? | Pathogenic; Hypokalemic periodic paralysis, type 1 | CACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAAC | CACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCTTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAAC 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Task1_train_2433 | 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. | Pathogenic; Abnormality of the musculature | ACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACC 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ACTCTCTGAGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCCCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACC 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Task1_train_2434 | 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? | Pathogenic; Hypokalemic periodic paralysis, type 1 | AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT 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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACATGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT 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Task1_train_2435 | 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? | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT 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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACATGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT 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Task1_train_2436 | 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. | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT | AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACATGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT 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Task1_train_2437 | 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. | Pathogenic; Hypokalemic periodic paralysis, type 1 | AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT 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AGGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACATGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTT 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Task1_train_2438 | 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? | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG 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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACCGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG 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Task1_train_2439 | 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 | 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 | GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG 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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACCGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG 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Task1_train_2441 | 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? | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACGGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG 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GGTAACCCCACAGTTGAACCCAACTGGCTGAATTCAACTGCCACCCACTCTGGCTGAGTCACAAAAGCAGCCCTTAGATTTCACACCTTGTGGATGTGTCGCTGTTGAATGAAGAATCTCAATGCATCCGAGGTGCATATGCATGACATGTTTGCATTTTTCCAGTAACTGCTACAACCTGCTCTGTAGATAACCTCCCTCCACCTCTCCAGCTGGGAAGAAGTGTCTCCTCTAGTCACATTCAGCCAGACTACATAACTTCCCACTCCTTTGTGTCTAATAACTGTCTCATTTCAGCTAGCTCCCTTCCTTCCTAGAGCAGGCAGTGCAGGGTGGCCTCGGGTTTGGAGTTGAGGTGCAGAGCTGGGGCGAGGTGGGAATCTCTGCCTGCACACGGTGAGGTGCCGGTCTCCTTTTCACAGGCCATAAGGGCTGCAGGCTGCTGTGACCTCATGGAGCCTTTGACACGCTGTGCCAAGAAGGGGCCCTGGGTGTGGGTGTCCCTAGGCCTTGTCTGGTCTCAGTAGAGCATTCCACTGTGGGCCAGGAAGCTCACCTCTCCCACCTGGCTCCTGCACGCCCAGCAGGCCTGCAGCCCAGGATCCTCGGTTGCAATCCAAGCTCTAGCTCCTGTGCCCTGGCCAAGCATAGGCCCCTGCGCCCTACCTGTGGCAGCGCCCCCCACCCCATCTGGAGCTTTGCTCTGCCTTTCCCTGCATTCCTGCTCATGCTCTGGGAGCGACGAGGGCAAATGTCCGGGAGAAGATATCTGACCTCTGTCTCTTGCTTCATGGGGATGAGATGGGAGGAAAATGCAGCACTTCACTCAGTGGAGGAGCCCAGTGCAAAATAAAGCTGTGGGACCACTTGTTCAAAATGATGAATATCTTCAAGGCAGTGACGGCAGAGCATGCAACCAAGCAGGGGACCCTTCTGAGTATAGGACCCTGTGTGGCTGCACAGGTCACACACCCATGAAGCCAGCCCTGGCTCCAGTGCACATTAGAACAGAGCAAAGGCTGGACTGGTCAGCGGGGTAGGGGTGGGGGTGGCGGGAGACGCGTGCCTGAAGAGCAGTAGCACAGCTTGTGGGAAGGTCTGGAAGTTGTTGTTCCGGTTTATTTGGGTCCCATCCACCAAGGCGATCTTCCCAAACATCTGCAAGTCACAAAGGGCCCTGACTGTGGAACCTAGATTAAAGTGTCCCCTCAGCTTATCCCCCACTGCCTTCTCCTGCCTGACCCCTACCTTCGCCCCTACTTCCCCAAAATTCCCTTCATTGCGGGCCACATCAGACCTGAAGCCAAAAAAAACGGGATTATTTTCTAGATCAGGTAAAGTTCTTCTTAGCAAGCCAAAGAAAAGAGGGAGGGTAGACCCGTTTTCCCAGCAGCAAGCAGACCCGGTAAGTCAATGTGTGGGGGAAGTGCTCTCAGGGGAGGGTAGACAGAGGCCACCCAGGGCTCCAGTCAGGCCTTAGAGAGACAGCCTGGCCCCTGCTGTCCACCCACATGCCCAGGTTTCTCCTGGCTGGCATCCAAGCATCTGACACTCCAGCCATCCACGATCAGGGAGGTTGTCCCTCCTTCTTTCTCACGAGCAAGGCAGGGAGGGCGGAGGGTCCAGCCCGTGTGCTGCTCAGGCTCCTCAGGGTCCACTGATGCCCCCTCTAACTTGGCCAAGATCCATGCTTTGGCCTGGGCCCGCCTGCCTCTCACCTGCATGCCGATGACAGCGTAGATGAAGAAGAGCATGACGATGAGCAGAGCCACGTAGGGTAGGGCCTGCAGGGCGGGCGGGAGCGCCAGTCAGTGTCTTAGGGCTCCACTGTGTGTCTGCAGCCCTGCCCTCTGTTAGCTCCCCAGGGCTCTGCCTTGCCCAGGGCTCCCCTGGGGCCCACCCTGGGCTGAGGCAGATGTCCCTAGTGGCCTCCCCAGGTACGTGCAGTTTCCAGGGTCCCTGTTGCACCTGGAAGGACTTGATGAACGTCCACAGGAGGGTTCGCACTCCTTCTGCCCGGCTCAGCAGCTTGATCAGCCTCATGACACCGAACAGGCGGAAGAAGGCGCTGGAGATGCGGGCACTCTCATCTGGGTCCTGCGGGGCAGCAGCCCCAGAGGTCAGTCTGGGGGCAGAACCTCAGAGGGGTAAGGGGCAGGGCGGGGAGGGAGGTGCACTGTGTGTTTTGGGGAGATGTTTGTGGCATGGAGGAACTCCAGCCCCGCCTCTGGCCCCTGCTGTCCACTAGTTCGGGACCATCCTTGGGCACAGGGCTCTGGGGCTGTTCAGCTGGGAGGCAGGGAAGAGGACGTGGGGCACCAGGCAGCGTGGTGAAGCCCACACTTGGGAGCAGTGGCAGGGATTTGCCCTGGGGTGTGGCTGCACCCAGGCCCACTGCCTGCCCTCTGGGACCTGCTGCACATCTCACAATCTCCTCAAGCTGCCACTGAGTCGAGGACCCTGGTGGCCCTCCTAGGGCTCCTCCCCTGGCGTCCTCCCAGTGCAAAGATTTCCCAAAGCTTGGCTGCTCTATTGCCACAAACTCAATGTGGCTACTCCCCATCACTCCCACCCTGCACACGGCTGTTCTAAGCCAGGCAAGCCTCTAATCTTGTGCCAGCCTTAGATACACGAAATACTCTGGAAGGGGAGAGCTGCCCCTGCTCTGCTTCCTGTGTCCTCAAAGGCCTTGTGCCCAATGAACTGTCACTAAGGTCCTTTGCCAGCGATCACAGTTCTCTCTGGACTGTGTTTCCATCTGCATAGAGGGTGCCAGAGAGAACCCGCACTCCATCTCCCAGGGCTCTGAGGAAGCCGCTATATCCATGCACACTTGACTGCAGAGCCTCTGCCCCCACCCGAGCCTAGCCTGGGTCCTCAGCAGGGCCTGCCCTGGGGAGGGAGCCCTGAGTGCTGATCCACCCCATGCAATCCACGCAGCCAGGCCCATGCATGCAAGTGGCAGGGCAGGAGCTGGTGAGCGTGCCAGGCAGGCTCGTGCAGCCTGAAATTACAACGTTCCCGCAGCCTCCACCCAGGCAATACAGTCCCCCGCTGGAGGCCAGGAAAGTCTGTGGAGAAAAGAGACGAAGGGAGGGGAAGGAGAGGAGAGAGAGGAGGAGGGACATGTGGGAGGGAGGTGAAGAGACGTGTCAGAAAGGACAGACACACAGAAGAGTTAAAGAGAAAAAGAGGCAGGGGCTAAAGACCCCACATGGCTGCCAATCAGGGGCGGGGTGGGTGGGAGTGAGGACTGAAGCTCTGTGGGAACTGTGAGGCAAGAGGTGGGGGACAAGGAAATAAGAAGGGGAGGGAAGGCTGGACACAGACAGATCCCTTCTCATTTTGGAGATGCAGCTACGGGTGGCAAGGGTTTGGGTTTTTCTTATGTGTTTGGGTTATGTGATGCTGGGGACGTCCCTAATGAAGGCGCATTGGAAGATGCCTGCTCATTGTAAATGGATTCACATCCATAGTGCCCTGAGGCCAGGGTCCGGGCCCCTGTGGAAGTCCCATCTCCCAGGGGCACAGCTCCTCTGGGGGAGTCTGAAATCCCCACAGCAGATGTTTCTCTGTCCAGGACTGGACCTGGGACCAAGGCTTCTATCTCAGTATTCGGGCTCTTGAAGAGCAGGTGGGTAGGTGTGTGGGAGCAATTTCTTCCTGTTTACTCCCTTGGGCCACACTTCATGAGAAGCCCTTGTTCTGCAGCCCTGGGTCAAAAGAAGTCATTGTTTTATCTTCCAATTATCCACAGGTAGACTGATCCCTGGCATACTGGTCTTCTCATTAAACAACAGATTTTCCCTGGGGCAGATTTTCCCTGGACCACTGGTTCTCCACCCTGGCTGTATGTCAGAATCACCTGAAGAACTCGAAAAACACATATACCTTTGCTGGGTCTGCACTTAGGTCAATTAAGTCAGCTTCTAGGGGATGGGGCCTGGCTTCAGAAGTTTAAATGCACCCCAGGTGATTCTCATATGCAAGCAAGGATGACGACCAGTGTTCTATACCTGTGCTATCCAATATGGTAGCCATTAGCCACATGTGACTATTTGAATTACAATGAAAATTGAATAAAACCAGAAATTTG 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Task1_train_2442 | 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? | Pathogenic; Hypokalemic periodic paralysis, type 1 | GGGATTCTGGGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGC 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GGGATTCTGGGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACGCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGC 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Task1_train_2443 | 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. | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | GGGATTCTGGGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGC 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GGGATTCTGGGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACGCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGC 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Task1_train_2444 | 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? | Pathogenic; not provided | GGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGC | GGGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACGCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGC |
Task1_train_2445 | 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. | Pathogenic; Hypokalemic periodic paralysis, type 1 | GGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCC 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GGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCTTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCC 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Task1_train_2446 | 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. | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | GGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCCTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCC 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GGACCCAAGCTTGGCAGAGGAGGGGGCTGGGGAGCAGGAGGTGGACAGCCCTCAGTTGGGCCAGGGGGAGAAGGCTGCACGCAGCTGGCAGAGTGGCCAGACACAATAAACACTCCCATCCCTCCCGTCCCTCCAGGACAGGGACCAACAAGACCTATTCCCCGCGAAGATTCTCTAGGGGCTCCACGCTGCTGCTTCTCTCAGAGCCTGTTCCCTGCCCTCAGCGAGGATTTGGCTTGTAAGGCCCTCAGCTCTAGCAGAGGCCCTGGCTCAAGTATGGAAAACATACTCCATACATGTTTGTTGAATGAATGAATGATTGTAAGATGATGCCATTTCATGTCTAAGACTGACTGGGGTTATGTAATTATGACTTTGAAAGATCGTGCTTTGGTGATAGGAGGAGCAGCTGGGTCATGCAGGAAGTATCAAGGGTGTTGGTGTATACTTAGGAATCAATTTCTCTGTCCTGCAAATGATCTGAGAGCCAGAGACATCTGGAAATCAGGGTTTGTGTGAGGGACATCTTTGTAGGGCTAATTCCTAGAGAGGAACTGAATAGCTGTGTTCTCCTAGGAAAATGAGAAAAGTATAAGGTTGGCTCCGGATGTGAGATGATGAACTCCCAGCCTTAGAGGCTCCTGGTAGATGTGGATGATGCCAGACATACCAGCCAGGAAGATGGGCTGCCGCAGCCCAGCTGCACTGACGGAGGCGGAGTGTGGGGCTGGGATAGGGCGTATGCTTGGCACAGGCCTGGCAGGATGGGAGGAAGCGGGCAAGGGTGGGAAGGGAGAAGAATGGCTGTGGGGCCCTGGGAGGAGGGGCCTCCCTCCCCAAGGAAAAGCCACGTGGGGTAGGGAGAGAGCAGATACAATGGCAACAGTGGTCAGCAGTCAACCAAGAGGCCCGGGATGGATGTCACTGAGGAAACTGGATCTGGACTTGCCACATATTAGCCTTAAAACTCTGTGCATTCAGTTGAAGCAAATTCACTTTGAGTCTCAATAATGTGTTGTGTTGCTTGTGTATTTAATTTTTAAAAGAGCTTAAGATAGTTGCTGTCAGGTTTTCATTTTAGCTTATTAGATCTCTTAAAGCTATTAACCATCATTGAAAGATGGCTGTCTCTTAAAAGTTTGATTTAGGAGAGTTGTATTTATAGATTGAAGTTTCATAGTCATATTTAAAAGATGGACATCAAACTAACCGTTTTCTTGTTTTGTTTGATAGAATTCTAAGTGCATGACAATAGCTTTAAGAGATGGGGCTTGAATTGTATTTAAATTTCAACTCAGTAGACACATGACCCTCTGCTACCATTTCAGTAGTGTTAGAAGCCCATTGACTGTTTCTGAGATTATCATTGGGCTGCTTTTGTGGAACTCAAGGTGCTATTTAAATGTAACGATGTCTTACTGGCTTTCTGCAAACTTATGTGTTTGGTGTGGTGAAGACCTATTTTTCAAAATAAAATATTCTCATATGGAAATCTGTGCATTCGAAGACATCTGTTTTCACAATGTGGGGCTCCTTGTGCTTGAGAGTGGGCACCAGGGCTGGGAGCGGGAGGGGGAGCTGCTCGCGCAGGCTGGGGCTCACCTTGAAGAGCTGGACGCCGATGCAGGCAAACATGAACTGTAGGAGGGTAGTGACCAGCACGATGTTCCCGATGGTGCTGATGGCCACGAACATGCACTGCACCACGTGCTGGGGACAGAGGGGCCAATGGGGACTGGGGGTGCACCCACAGTAACCCTGCTAGCCCAGTTGAGGAAACCCCAGGAGTGCAAGACTTGCTGCCTCCTGATGAGTTGGAGGTGGGGAAAGGCTGGTGGGGAAGCATAGCTACCCCAGCCTCATCCTTACCCCTATCTGCCCAGGGAGATGGGACAGGGGTCCCAGCCATGGCTGGGCTGAGGTTTCTGGAGCGAGGAGGCCCCTGTAACCCCTCCCATTCCTCTCTGGGGCTCCTGCCCGGGCCCTCTCTCACCTTCAACCCCTTGGCTCTGTTGATGGCTCTGAGTGGTCGGAGCACCCTCAGCACCTTCAGGATCTTCACCACGGAGATGGCACTGGACCTGGGGGGCGGCAATGGTGAGGGGGCTGAGGGCAGCCTGCTCCAGCCAGCCCAGTCTGCGGTGGAGCCTCCAGCCATATCCTGCCCTCCACACCAGCTGCCTTTCTGCCTGAAAACACTCCCACCTTCCCCTTCCCTTTCCTCCAGCCGTGAGAGTGTGCCCGACTCCAGGGCACAGCCACCCCTGCTATCTGGACCATGCTCTCATGGGTGTGTCATGAAGCAGAAGACAGCCTTCCCCTGTGGGTGGCTAGAAGCTCCGTCCCTCCCGTCAGACGGTGAGCACCCCAAAGGCAGGGGCTGTGCTCCCCACAGGGTCGGGGAGGGAGGGACCACTTCCTCCTCTCTGCATCTCCTGCCAGTCTCTAGAACAGAGCGCTGCCCACTTCACTGGTGGCAACCCACATTCCAGCTGGTGACAACCCACAGGACCCCCTGCCTCCATCGGAGGCCCCGAGAGACCCTCCTCTTGTGGCAGGGGCCCACCAACATGGGTGGGACTCCCACTACAAAGCCCTGGCACAGAGCAGAGGGTGGTCTGTGCCCAGGGCTGGCCCTTGCCGCTGCTCACTCAAGTCCCATGGAGATGAGGGACACGGCCACCACCAGCAGGTCCAGCATGTTGAAGTAATTGCGGCAGAAGGAACCCTTGTGCAGGAAGGCTCCGTAGGTCGTCATCTGGGGAGAAAGAGGCAGCAGCCTGGATGGAGGAGCTTGGAGAACAGGCCTGTCTCCCACAGACAAGGGCTTCTCGCCTCTGCTCAGGAGAGCACTTACTGAGGCAATAGCCTTCCAGAAATCTCTATATTTCACTCAACTCCTTGCAGTGGCCTAAATGCATTTCCTATCTCTGCTCGCAGTTGTTGAAATGTGAGGACTTCTCACGGGCAGCTGGGCCAGAAGTCTCTTTCTTTACATGCCATAGGGAACCCTGGGTCTCCTTTCCCATGGGGCCACAGAGTGGGGGAGCCCTGGCCCTACTGTCTCCTGTGGGACATAAAACTTCTCCTTCCTGGAAAGCTTCTTGGGCAATCCCCTCTGCCTTGTGGTTTGCTAAGTCAGGCTGAACAAGCCCTCCAGGACTCTAGGGGTCCTAGGCCCTCTCTCCTCCCTCTCCACCTCCTTCCCATCACCTGCCTTCTTGCTCCCCTCTCAGCTTCTTTGATATATTCTCTAATAATCTCCCATGCCTTTGCACAAATGCATTTTGCCCTTAAAATCGAACAGGGTTGAAACCTTTCCCAGCATTCAGGGACCTATATGATTTTGTCTTAATTTGCCTTCCCAGACTCGGCACCCAGGCCTCCTGTATGTGCAATATATCCCAGCCCAAAGGGGCCACTTTATCCTCTCTGGCAATGTCCCCAGATCTCCTTATAATGCACTTGCTACTGTCTGTCCTAGGCCGCCCTAGCTATCTCTACCCAGTGAAGGCCTGTCCAACTTCAAGTTCTGGCTCTCGTGCCCCAAACTCCACAAACTTCTTGACCTCGAGGAAGCCACCATCTCCCTCTACTCAATTCCTTCAATAGTTGAGGCCCCGAAATAAGGTACTGTCCTGATTTCACACCACAGCCTGCTCTGAGCCTGTTCCTGGGGCTCGGCTAGCTTCTCCTCTCTTAGTTTGTGAATGTGCACGCGGGGGCTACTGGGTTTCAGTTATAGATGGGTTCTCCTTCTGCCCCCAGAGCCCACCACCCCCAGGATGGCTGGAACCCCGTGCATCTGTGTTGGGAATGGGTGAGCAGTGACGTGCTGTGGATAAGGTGTGGAAAAGGCGTGATAGGGCAGAGCTGCCAGGAACCCAGCTCAGGGCAGCAGTCACTTCTCTGGGGACTCTTGGAGGAAAAGGCCTTTCCAGTCACTGTTAACAGAGGTCTAGGGATGACAAATCACACAGCTCCCCGGCTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCC 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Task1_train_2447 | 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? | Pathogenic; Centronuclear myopathy | TATCCATAGGCTGGGGGATGGAGTGGGAAACGCTGCTTCAGAAGAAGAGACCTGGGTCCTAGTCCCAGGTCTGCGTCTAACTTGCTGTGCAGTGCTGGGAAGGTCTGTGCCCTTCCTTAGCGTCAGTTTCCAATTTGTGAAACCGACAAGGGGCAGGAGGGTTGTTGAAATAAAAGGACCCTGTGATCCTCTCCTGGGCTAGGATTTTAAAAATAGTAACTTCACAGAGAAGCTTCTTCCAGCATGGAAAAAAGCAATCAGAATTTCTTGAGCTTCACCCAGTCCCCAGGATGCAGGCAGGGGATAGGGGATGAAGAGACGGACATTCCAAGCACATTCACTGAGTCTCATGACCTCAAGAGGAAGCTGAGTACCCGAAATCCTCAGCTCCCAGGGTGGGAGAATCCCGTGATCAGACGGTGGGGGCACTATTCAAAGCTGGGGTTTCTCTTGGTTCCCTCCCCTGACAGCTACCTCCTCCCTAACCCTCCTGGCCCCTGGCAGAGGCCTTGAGGGAAGCCAAGAGCTACTGGATTCTACTGTCTCCATCATGGCCACCTGTAGGGGTTCTCAAATCCACCAAGTCACATTCCAATTTTTCTGTTCCCCCGAGAAGCTAGAACTCTTATTCCTTGGAATGAGTGTCCTAACGTGACACTTTCTGTCTTGCCCAGCCTGCCACAGACCCCAGAGACACATTTCACGCTTAATCGCAGAGACCATTAATTCTTCGAGTTAGCATATTTGCATCTTTCCCCCGCCTTCTTACTTCCTCCACCTATGCCCAGTTTGTTAATTTCATTGCACATATCTTTTGCTGTAAGCCATTTCAAACTATTTTTAGAAAGAAGCAGGATATAAACACATTCAGTCCCCTTGGTAAGACTCTCTTCCTGCTGTCCAGCCCACACCCCCTCTACCCCTCCTCTCCTTACTTCTTTCCAGCCCCTTCCTTGTCCCTGACCTCAGATTTCCTGTCAGCCACCATCTCACCTGCACACAAGTCACTGCCATCTAAGAGGTGATAACTGTTAGATGAAACAACTCAAAATGAGTTATTCTAAAACACAAATATTCATTGCTGGTAGATATTTGAAGAAATTTCATTATTCTTATTTGTACCAGCTCCATTCTCCCCATACTTCACTTTGCAAAATTCTTTCATGCATTCATTCATTCAATTTATTGAGTGCCTCCTCTGAGCCAAACACTGTGCTGTGTGGAACACAAAAGTCCCCCTGGAGCTTAGAGTCACTGGGGCAAACAGATGCTAATCAGCTGATTCCATAAGTAGACATACAAGTAGCTGATCAGCTGATGGGACAAGTAGATCTAAAATTGCCCCACTGACCCGGTGATCCGAAGGACCCAGGACCCAGAGAGTTCTTGGGCCCCAGGGCTCTGTCAGGTGGCCTGGTAAGATTAATTCAGCCTGGTTCTGCTTGTCCTCTTCTTGGTCCAGATAAATGGGATTTCTGCAGCAGTCACTGGCTATTTGCATTTATGAGATGTTTGTGGTTTATCCACGGTTGTTTCTTATCCATGCTCCCCCTACCCCACCATTGTTTCCTCCTCTTGGACTTTCCCACATTGCCTGCCATGGTTCTATCCATCCCTGTATCCTTCCGGCCCCCAGCCCTACCAGACACTGGATAGTGAGTAATCTGCCTCATCACGACATATATGGGCGTGTCCTCATTTATGATCCATTCTGCATGACTGGCAGGGAAGACTTGTATACCCACGTGTCCCTGTGCTTCTTGAAAACTGAGTCCTTGGCAGTGAGGCACATAGCTGGCACTCAATAAATACTTGCTGAGTTACATGAAAGTAAAATGTATGGGTTTTTCTGTTGTGTGCATTGTTGAGAGAGACAAGCTGGCAGATGGCTTATTTGCACAGAAGGGATGTCTCCGGTGTTCTGATCTCCACATGGAGGGGTACAGGTAGGGACACACAAGAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTGGGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCAGGCCCAGCAAGGCCAGACAACTTGCAAAAGCTCCCACGGGGCAAGGCCTGAGCCCGCCCTAGCCTGTCTGACTCTATCTTCACATACCCACTGCTTGGTTCTCCAGAAGGGAGTTGAGCTTCCCCAGGCCAGGACCTCGAGCCTCTCTGGGCCCAGTTCCCTGACTTTTTGAACTCCACTTCCTCAGTTTTCAGGAATGGTGAGCAGAGTCAGATGGGAATGAGCAGGGCAGGGCTAGCAATGGTGGAAGCCGGTCTGGGCCTCTCAGTGGAACAGCGGGTGTCAGGGAGAGGAAATACCTCCTTGGTCTGGAGTGGGAAGCTGCTACGCTGGAGAAGTCTGGTTCCCAGATTGGGAGGTCTGCTGTGCCTCTCAGTGCAGGAGTCCCTGGAGATGGATTCGCTGGCTCTCCCTCCAGTCGTACGCAGGGAGATGCCCTCACCTGGCTGATAACTCTCCTACCTCCCCACCCTACCCCACCTGTACCCTGTGGTATGAAGGGAACCATGGATTGGAAGAGCCCCTAGACTGCCTCTAACATCCCCACCTGAGGTGCTCACCTTGGCAGTGGTGGGGATGCCCTCACCCTTGGGTTTCTGCTCCAGCTTCTTGGCCATCGTTGACTTCTCCTCTTCTGACTTGTCTGGGAGACCCCTGAGTTAGAAAACCCAAAGTGGAAGCCAAACCAGAAAGTTCTCAGGGATCTGCTGAACCTGACAACACCTTCAGGAGGATCCCACACCAAGGGCTCCAGGGGATCTGTAGGAGGAGTGGCATCAGCCCCCAAATGGGAAGGGCAGTGGGCTCAGGCAAGTCCCTTCTCTGTGGTGAGAGGGCCCGACACACAGCATGGGCCCATGGCTACCGGTGGCTCACTGGTCAGCCATGTTTAACGTTGGTTGATAGTGAATGGGTGGAGTGTGGCTTTGTACTGGGTTTATACGAGATTCATAGAGTGGAAGCATGGTTTGCCCAAGATGGCTCCAACTCTTTAGAAATGTCTGAACTCCATTGCTGGTCCCTCTTTTTCCATCTTGCCTCCACAGGAATGGGTGTCCCATTCCTGTAGGCATGGGCATTGGAAGAAGCAGAACTCTGTCTAGAACCTAGGTACTTGAAGCATAATCCTCCAACCAGCAGCATGGGCACCACCGGGGAGCCTGTTCGATGTAGAACTCCAACCCCGCCCAGAGGCATAGCGACTCAGTGACAGGGTTGGGAGGGGAATTCCCAGGATCCCTCCGCAGGGGAGCCCTGCCCAACTGGCCAGGCTCTGAGGCTCTGGCATTCTACATCCTGAGGCCTGTCTGTCCAGAAGGCCAACTTGTCTCTGTTCTTGCCCCCAGGGAAGGATCTCAGCCACCCCCATGTGCAGGTTACAGAAGTTTGCCCACTGAGGTGGGTGTCACCATGTCAGGGACCCTGATCATTGGGTTACAGGGAGGCCCTGTCCAGAGCTGGAAGGCCATGGCCACGACTGAGCACTCCAGGTCCCTTCCTGCTAAGGAAGCACTCACTTGGACATCTTCCTGCGTTTTTTCTCCTCAGCCTTGGCCTTCTGGGCAGAAGTCAGGCTCTCCGCCTCGGCCAGGTTGTCCACGGCAATGGCCAGGAAGACATTGAGCAGGATGTCTGAGCGGGTTTAGCTAAGGAGCCTTTGGTTGTAGGTGGAAGGGAGCCTGCAGGGCAGGAGTTCTGTCTGCCTGCATGTGGGCAGGACCTAACCCCACTCTCCCAGAGCTACCCATGGGAAGGTGTGGATCCAGGGACATAGTGGAAGGCCCTCAGGGAAGCCTGCCTGCTGAGAGTACCCAGG 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TATCCATAGGCTGGGGGATGGAGTGGGAAACGCTGCTTCAGAAGAAGAGACCTGGGTCCTAGTCCCAGGTCTGCGTCTAACTTGCTGTGCAGTGCTGGGAAGGTCTGTGCCCTTCCTTAGCGTCAGTTTCCAATTTGTGAAACCGACAAGGGGCAGGAGGGTTGTTGAAATAAAAGGACCCTGTGATCCTCTCCTGGGCTAGGATTTTAAAAATAGTAACTTCACAGAGAAGCTTCTTCCAGCATGGAAAAAAGCAATCAGAATTTCTTGAGCTTCACCCAGTCCCCAGGATGCAGGCAGGGGATAGGGGATGAAGAGACGGACATTCCAAGCACATTCACTGAGTCTCATGACCTCAAGAGGAAGCTGAGTACCCGAAATCCTCAGCTCCCAGGGTGGGAGAATCCCGTGATCAGACGGTGGGGGCACTATTCAAAGCTGGGGTTTCTCTTGGTTCCCTCCCCTGACAGCTACCTCCTCCCTAACCCTCCTGGCCCCTGGCAGAGGCCTTGAGGGAAGCCAAGAGCTACTGGATTCTACTGTCTCCATCATGGCCACCTGTAGGGGTTCTCAAATCCACCAAGTCACATTCCAATTTTTCTGTTCCCCCGAGAAGCTAGAACTCTTATTCCTTGGAATGAGTGTCCTAACGTGACACTTTCTGTCTTGCCCAGCCTGCCACAGACCCCAGAGACACATTTCACGCTTAATCGCAGAGACCATTAATTCTTCGAGTTAGCATATTTGCATCTTTCCCCCGCCTTCTTACTTCCTCCACCTATGCCCAGTTTGTTAATTTCATTGCACATATCTTTTGCTGTAAGCCATTTCAAACTATTTTTAGAAAGAAGCAGGATATAAACACATTCAGTCCCCTTGGTAAGACTCTCTTCCTGCTGTCCAGCCCACACCCCCTCTACCCCTCCTCTCCTTACTTCTTTCCAGCCCCTTCCTTGTCCCTGACCTCAGATTTCCTGTCAGCCACCATCTCACCTGCACACAAGTCACTGCCATCTAAGAGGTGATAACTGTTAGATGAAACAACTCAAAATGAGTTATTCTAAAACACAAATATTCATTGCTGGTAGATATTTGAAGAAATTTCATTATTCTTATTTGTACCAGCTCCATTCTCCCCATACTTCACTTTGCAAAATTCTTTCATGCATTCATTCATTCAATTTATTGAGTGCCTCCTCTGAGCCAAACACTGTGCTGTGTGGAACACAAAAGTCCCCCTGGAGCTTAGAGTCACTGGGGCAAACAGATGCTAATCAGCTGATTCCATAAGTAGACATACAAGTAGCTGATCAGCTGATGGGACAAGTAGATCTAAAATTGCCCCACTGACCCGGTGATCCGAAGGACCCAGGACCCAGAGAGTTCTTGGGCCCCAGGGCTCTGTCAGGTGGCCTGGTAAGATTAATTCAGCCTGGTTCTGCTTGTCCTCTTCTTGGTCCAGATAAATGGGATTTCTGCAGCAGTCACTGGCTATTTGCATTTATGAGATGTTTGTGGTTTATCCACGGTTGTTTCTTATCCATGCTCCCCCTACCCCACCATTGTTTCCTCCTCTTGGACTTTCCCACATTGCCTGCCATGGTTCTATCCATCCCTGTATCCTTCCGGCCCCCAGCCCTACCAGACACTGGATAGTGAGTAATCTGCCTCATCACGACATATATGGGCGTGTCCTCATTTATGATCCATTCTGCATGACTGGCAGGGAAGACTTGTATACCCACGTGTCCCTGTGCTTCTTGAAAACTGAGTCCTTGGCAGTGAGGCACATAGCTGGCACTCAATAAATACTTGCTGAGTTACATGAAAGTAAAATGTATGGGTTTTTCTGTTGTGTGCATTGTTGAGAGAGACAAGCTGGCAGATGGCTTATTTGCACAGAAGGGATGTCTCCGGTGTTCTGATCTCCACATGGAGGGGTACAGGTAGGGACACACAAGAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTTGGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCAGGCCCAGCAAGGCCAGACAACTTGCAAAAGCTCCCACGGGGCAAGGCCTGAGCCCGCCCTAGCCTGTCTGACTCTATCTTCACATACCCACTGCTTGGTTCTCCAGAAGGGAGTTGAGCTTCCCCAGGCCAGGACCTCGAGCCTCTCTGGGCCCAGTTCCCTGACTTTTTGAACTCCACTTCCTCAGTTTTCAGGAATGGTGAGCAGAGTCAGATGGGAATGAGCAGGGCAGGGCTAGCAATGGTGGAAGCCGGTCTGGGCCTCTCAGTGGAACAGCGGGTGTCAGGGAGAGGAAATACCTCCTTGGTCTGGAGTGGGAAGCTGCTACGCTGGAGAAGTCTGGTTCCCAGATTGGGAGGTCTGCTGTGCCTCTCAGTGCAGGAGTCCCTGGAGATGGATTCGCTGGCTCTCCCTCCAGTCGTACGCAGGGAGATGCCCTCACCTGGCTGATAACTCTCCTACCTCCCCACCCTACCCCACCTGTACCCTGTGGTATGAAGGGAACCATGGATTGGAAGAGCCCCTAGACTGCCTCTAACATCCCCACCTGAGGTGCTCACCTTGGCAGTGGTGGGGATGCCCTCACCCTTGGGTTTCTGCTCCAGCTTCTTGGCCATCGTTGACTTCTCCTCTTCTGACTTGTCTGGGAGACCCCTGAGTTAGAAAACCCAAAGTGGAAGCCAAACCAGAAAGTTCTCAGGGATCTGCTGAACCTGACAACACCTTCAGGAGGATCCCACACCAAGGGCTCCAGGGGATCTGTAGGAGGAGTGGCATCAGCCCCCAAATGGGAAGGGCAGTGGGCTCAGGCAAGTCCCTTCTCTGTGGTGAGAGGGCCCGACACACAGCATGGGCCCATGGCTACCGGTGGCTCACTGGTCAGCCATGTTTAACGTTGGTTGATAGTGAATGGGTGGAGTGTGGCTTTGTACTGGGTTTATACGAGATTCATAGAGTGGAAGCATGGTTTGCCCAAGATGGCTCCAACTCTTTAGAAATGTCTGAACTCCATTGCTGGTCCCTCTTTTTCCATCTTGCCTCCACAGGAATGGGTGTCCCATTCCTGTAGGCATGGGCATTGGAAGAAGCAGAACTCTGTCTAGAACCTAGGTACTTGAAGCATAATCCTCCAACCAGCAGCATGGGCACCACCGGGGAGCCTGTTCGATGTAGAACTCCAACCCCGCCCAGAGGCATAGCGACTCAGTGACAGGGTTGGGAGGGGAATTCCCAGGATCCCTCCGCAGGGGAGCCCTGCCCAACTGGCCAGGCTCTGAGGCTCTGGCATTCTACATCCTGAGGCCTGTCTGTCCAGAAGGCCAACTTGTCTCTGTTCTTGCCCCCAGGGAAGGATCTCAGCCACCCCCATGTGCAGGTTACAGAAGTTTGCCCACTGAGGTGGGTGTCACCATGTCAGGGACCCTGATCATTGGGTTACAGGGAGGCCCTGTCCAGAGCTGGAAGGCCATGGCCACGACTGAGCACTCCAGGTCCCTTCCTGCTAAGGAAGCACTCACTTGGACATCTTCCTGCGTTTTTTCTCCTCAGCCTTGGCCTTCTGGGCAGAAGTCAGGCTCTCCGCCTCGGCCAGGTTGTCCACGGCAATGGCCAGGAAGACATTGAGCAGGATGTCTGAGCGGGTTTAGCTAAGGAGCCTTTGGTTGTAGGTGGAAGGGAGCCTGCAGGGCAGGAGTTCTGTCTGCCTGCATGTGGGCAGGACCTAACCCCACTCTCCCAGAGCTACCCATGGGAAGGTGTGGATCCAGGGACATAGTGGAAGGCCCTCAGGGAAGCCTGCCTGCTGAGAGTACCCAGG 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Task1_train_2448 | 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? | Pathogenic; Congenital myopathy 18 | ATCCATAGGCTGGGGGATGGAGTGGGAAACGCTGCTTCAGAAGAAGAGACCTGGGTCCTAGTCCCAGGTCTGCGTCTAACTTGCTGTGCAGTGCTGGGAAGGTCTGTGCCCTTCCTTAGCGTCAGTTTCCAATTTGTGAAACCGACAAGGGGCAGGAGGGTTGTTGAAATAAAAGGACCCTGTGATCCTCTCCTGGGCTAGGATTTTAAAAATAGTAACTTCACAGAGAAGCTTCTTCCAGCATGGAAAAAAGCAATCAGAATTTCTTGAGCTTCACCCAGTCCCCAGGATGCAGGCAGGGGATAGGGGATGAAGAGACGGACATTCCAAGCACATTCACTGAGTCTCATGACCTCAAGAGGAAGCTGAGTACCCGAAATCCTCAGCTCCCAGGGTGGGAGAATCCCGTGATCAGACGGTGGGGGCACTATTCAAAGCTGGGGTTTCTCTTGGTTCCCTCCCCTGACAGCTACCTCCTCCCTAACCCTCCTGGCCCCTGGCAGAGGCCTTGAGGGAAGCCAAGAGCTACTGGATTCTACTGTCTCCATCATGGCCACCTGTAGGGGTTCTCAAATCCACCAAGTCACATTCCAATTTTTCTGTTCCCCCGAGAAGCTAGAACTCTTATTCCTTGGAATGAGTGTCCTAACGTGACACTTTCTGTCTTGCCCAGCCTGCCACAGACCCCAGAGACACATTTCACGCTTAATCGCAGAGACCATTAATTCTTCGAGTTAGCATATTTGCATCTTTCCCCCGCCTTCTTACTTCCTCCACCTATGCCCAGTTTGTTAATTTCATTGCACATATCTTTTGCTGTAAGCCATTTCAAACTATTTTTAGAAAGAAGCAGGATATAAACACATTCAGTCCCCTTGGTAAGACTCTCTTCCTGCTGTCCAGCCCACACCCCCTCTACCCCTCCTCTCCTTACTTCTTTCCAGCCCCTTCCTTGTCCCTGACCTCAGATTTCCTGTCAGCCACCATCTCACCTGCACACAAGTCACTGCCATCTAAGAGGTGATAACTGTTAGATGAAACAACTCAAAATGAGTTATTCTAAAACACAAATATTCATTGCTGGTAGATATTTGAAGAAATTTCATTATTCTTATTTGTACCAGCTCCATTCTCCCCATACTTCACTTTGCAAAATTCTTTCATGCATTCATTCATTCAATTTATTGAGTGCCTCCTCTGAGCCAAACACTGTGCTGTGTGGAACACAAAAGTCCCCCTGGAGCTTAGAGTCACTGGGGCAAACAGATGCTAATCAGCTGATTCCATAAGTAGACATACAAGTAGCTGATCAGCTGATGGGACAAGTAGATCTAAAATTGCCCCACTGACCCGGTGATCCGAAGGACCCAGGACCCAGAGAGTTCTTGGGCCCCAGGGCTCTGTCAGGTGGCCTGGTAAGATTAATTCAGCCTGGTTCTGCTTGTCCTCTTCTTGGTCCAGATAAATGGGATTTCTGCAGCAGTCACTGGCTATTTGCATTTATGAGATGTTTGTGGTTTATCCACGGTTGTTTCTTATCCATGCTCCCCCTACCCCACCATTGTTTCCTCCTCTTGGACTTTCCCACATTGCCTGCCATGGTTCTATCCATCCCTGTATCCTTCCGGCCCCCAGCCCTACCAGACACTGGATAGTGAGTAATCTGCCTCATCACGACATATATGGGCGTGTCCTCATTTATGATCCATTCTGCATGACTGGCAGGGAAGACTTGTATACCCACGTGTCCCTGTGCTTCTTGAAAACTGAGTCCTTGGCAGTGAGGCACATAGCTGGCACTCAATAAATACTTGCTGAGTTACATGAAAGTAAAATGTATGGGTTTTTCTGTTGTGTGCATTGTTGAGAGAGACAAGCTGGCAGATGGCTTATTTGCACAGAAGGGATGTCTCCGGTGTTCTGATCTCCACATGGAGGGGTACAGGTAGGGACACACAAGAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTGGGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCAGGCCCAGCAAGGCCAGACAACTTGCAAAAGCTCCCACGGGGCAAGGCCTGAGCCCGCCCTAGCCTGTCTGACTCTATCTTCACATACCCACTGCTTGGTTCTCCAGAAGGGAGTTGAGCTTCCCCAGGCCAGGACCTCGAGCCTCTCTGGGCCCAGTTCCCTGACTTTTTGAACTCCACTTCCTCAGTTTTCAGGAATGGTGAGCAGAGTCAGATGGGAATGAGCAGGGCAGGGCTAGCAATGGTGGAAGCCGGTCTGGGCCTCTCAGTGGAACAGCGGGTGTCAGGGAGAGGAAATACCTCCTTGGTCTGGAGTGGGAAGCTGCTACGCTGGAGAAGTCTGGTTCCCAGATTGGGAGGTCTGCTGTGCCTCTCAGTGCAGGAGTCCCTGGAGATGGATTCGCTGGCTCTCCCTCCAGTCGTACGCAGGGAGATGCCCTCACCTGGCTGATAACTCTCCTACCTCCCCACCCTACCCCACCTGTACCCTGTGGTATGAAGGGAACCATGGATTGGAAGAGCCCCTAGACTGCCTCTAACATCCCCACCTGAGGTGCTCACCTTGGCAGTGGTGGGGATGCCCTCACCCTTGGGTTTCTGCTCCAGCTTCTTGGCCATCGTTGACTTCTCCTCTTCTGACTTGTCTGGGAGACCCCTGAGTTAGAAAACCCAAAGTGGAAGCCAAACCAGAAAGTTCTCAGGGATCTGCTGAACCTGACAACACCTTCAGGAGGATCCCACACCAAGGGCTCCAGGGGATCTGTAGGAGGAGTGGCATCAGCCCCCAAATGGGAAGGGCAGTGGGCTCAGGCAAGTCCCTTCTCTGTGGTGAGAGGGCCCGACACACAGCATGGGCCCATGGCTACCGGTGGCTCACTGGTCAGCCATGTTTAACGTTGGTTGATAGTGAATGGGTGGAGTGTGGCTTTGTACTGGGTTTATACGAGATTCATAGAGTGGAAGCATGGTTTGCCCAAGATGGCTCCAACTCTTTAGAAATGTCTGAACTCCATTGCTGGTCCCTCTTTTTCCATCTTGCCTCCACAGGAATGGGTGTCCCATTCCTGTAGGCATGGGCATTGGAAGAAGCAGAACTCTGTCTAGAACCTAGGTACTTGAAGCATAATCCTCCAACCAGCAGCATGGGCACCACCGGGGAGCCTGTTCGATGTAGAACTCCAACCCCGCCCAGAGGCATAGCGACTCAGTGACAGGGTTGGGAGGGGAATTCCCAGGATCCCTCCGCAGGGGAGCCCTGCCCAACTGGCCAGGCTCTGAGGCTCTGGCATTCTACATCCTGAGGCCTGTCTGTCCAGAAGGCCAACTTGTCTCTGTTCTTGCCCCCAGGGAAGGATCTCAGCCACCCCCATGTGCAGGTTACAGAAGTTTGCCCACTGAGGTGGGTGTCACCATGTCAGGGACCCTGATCATTGGGTTACAGGGAGGCCCTGTCCAGAGCTGGAAGGCCATGGCCACGACTGAGCACTCCAGGTCCCTTCCTGCTAAGGAAGCACTCACTTGGACATCTTCCTGCGTTTTTTCTCCTCAGCCTTGGCCTTCTGGGCAGAAGTCAGGCTCTCCGCCTCGGCCAGGTTGTCCACGGCAATGGCCAGGAAGACATTGAGCAGGATGTCTGAGCGGGTTTAGCTAAGGAGCCTTTGGTTGTAGGTGGAAGGGAGCCTGCAGGGCAGGAGTTCTGTCTGCCTGCATGTGGGCAGGACCTAACCCCACTCTCCCAGAGCTACCCATGGGAAGGTGTGGATCCAGGGACATAGTGGAAGGCCCTCAGGGAAGCCTGCCTGCTGAGAGTACCCAGGA 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ATCCATAGGCTGGGGGATGGAGTGGGAAACGCTGCTTCAGAAGAAGAGACCTGGGTCCTAGTCCCAGGTCTGCGTCTAACTTGCTGTGCAGTGCTGGGAAGGTCTGTGCCCTTCCTTAGCGTCAGTTTCCAATTTGTGAAACCGACAAGGGGCAGGAGGGTTGTTGAAATAAAAGGACCCTGTGATCCTCTCCTGGGCTAGGATTTTAAAAATAGTAACTTCACAGAGAAGCTTCTTCCAGCATGGAAAAAAGCAATCAGAATTTCTTGAGCTTCACCCAGTCCCCAGGATGCAGGCAGGGGATAGGGGATGAAGAGACGGACATTCCAAGCACATTCACTGAGTCTCATGACCTCAAGAGGAAGCTGAGTACCCGAAATCCTCAGCTCCCAGGGTGGGAGAATCCCGTGATCAGACGGTGGGGGCACTATTCAAAGCTGGGGTTTCTCTTGGTTCCCTCCCCTGACAGCTACCTCCTCCCTAACCCTCCTGGCCCCTGGCAGAGGCCTTGAGGGAAGCCAAGAGCTACTGGATTCTACTGTCTCCATCATGGCCACCTGTAGGGGTTCTCAAATCCACCAAGTCACATTCCAATTTTTCTGTTCCCCCGAGAAGCTAGAACTCTTATTCCTTGGAATGAGTGTCCTAACGTGACACTTTCTGTCTTGCCCAGCCTGCCACAGACCCCAGAGACACATTTCACGCTTAATCGCAGAGACCATTAATTCTTCGAGTTAGCATATTTGCATCTTTCCCCCGCCTTCTTACTTCCTCCACCTATGCCCAGTTTGTTAATTTCATTGCACATATCTTTTGCTGTAAGCCATTTCAAACTATTTTTAGAAAGAAGCAGGATATAAACACATTCAGTCCCCTTGGTAAGACTCTCTTCCTGCTGTCCAGCCCACACCCCCTCTACCCCTCCTCTCCTTACTTCTTTCCAGCCCCTTCCTTGTCCCTGACCTCAGATTTCCTGTCAGCCACCATCTCACCTGCACACAAGTCACTGCCATCTAAGAGGTGATAACTGTTAGATGAAACAACTCAAAATGAGTTATTCTAAAACACAAATATTCATTGCTGGTAGATATTTGAAGAAATTTCATTATTCTTATTTGTACCAGCTCCATTCTCCCCATACTTCACTTTGCAAAATTCTTTCATGCATTCATTCATTCAATTTATTGAGTGCCTCCTCTGAGCCAAACACTGTGCTGTGTGGAACACAAAAGTCCCCCTGGAGCTTAGAGTCACTGGGGCAAACAGATGCTAATCAGCTGATTCCATAAGTAGACATACAAGTAGCTGATCAGCTGATGGGACAAGTAGATCTAAAATTGCCCCACTGACCCGGTGATCCGAAGGACCCAGGACCCAGAGAGTTCTTGGGCCCCAGGGCTCTGTCAGGTGGCCTGGTAAGATTAATTCAGCCTGGTTCTGCTTGTCCTCTTCTTGGTCCAGATAAATGGGATTTCTGCAGCAGTCACTGGCTATTTGCATTTATGAGATGTTTGTGGTTTATCCACGGTTGTTTCTTATCCATGCTCCCCCTACCCCACCATTGTTTCCTCCTCTTGGACTTTCCCACATTGCCTGCCATGGTTCTATCCATCCCTGTATCCTTCCGGCCCCCAGCCCTACCAGACACTGGATAGTGAGTAATCTGCCTCATCACGACATATATGGGCGTGTCCTCATTTATGATCCATTCTGCATGACTGGCAGGGAAGACTTGTATACCCACGTGTCCCTGTGCTTCTTGAAAACTGAGTCCTTGGCAGTGAGGCACATAGCTGGCACTCAATAAATACTTGCTGAGTTACATGAAAGTAAAATGTATGGGTTTTTCTGTTGTGTGCATTGTTGAGAGAGACAAGCTGGCAGATGGCTTATTTGCACAGAAGGGATGTCTCCGGTGTTCTGATCTCCACATGGAGGGGTACAGGTAGGGACACACAAGAGACTGCCCATGGGGAGAATTCAGGACCGGCACACCCCTACTTCACCCCAGCACCCTGCTCCAGTCCAGTCTCCAGCATCCTCACCTGAGAAGTCGGCTGAGGGGTAGGGATCCTTCACCTCATTGACATTAGATTCAAACTCATCGATTTTCAGCTGTAGGAAGGAACACAATGACTATAACAATGAAAAAGAAGTTGCGGTTTCCCCTCAATGAGCATATACTGGAGAGCCTGTTAGCGTTCAGCTCACTTAATCATCCCTACAGCCTAAGGAACAGGGAATATTATGATCATCCCCATTTTACAAATGAGAGGCCAGGCCCAGCAAGGCCAGACAACTTGCAAAAGCTCCCACGGGGCAAGGCCTGAGCCCGCCCTAGCCTGTCTGACTCTATCTTCACATACCCACTGCTTGGTTCTCCAGAAGGGAGTTGAGCTTCCCCAGGCCAGGACCTCGAGCCTCTCTGGGCCCAGTTCCCTGACTTTTTGAACTCCACTTCCTCAGTTTTCAGGAATGGTGAGCAGAGTCAGATGGGAATGAGCAGGGCAGGGCTAGCAATGGTGGAAGCCGGTCTGGGCCTCTCAGTGGAACAGCGGGTGTCAGGGAGAGGAAATACCTCCTTGGTCTGGAGTGGGAAGCTGCTACGCTGGAGAAGTCTGGTTCCCAGATTGGGAGGTCTGCTGTGCCTCTCAGTGCAGGAGTCCCTGGAGATGGATTCGCTGGCTCTCCCTCCAGTCGTACGCAGGGAGATGCCCTCACCTGGCTGATAACTCTCCTACCTCCCCACCCTACCCCACCTGTACCCTGTGGTATGAAGGGAACCATGGATTGGAAGAGCCCCTAGACTGCCTCTAACATCCCCACCTGAGGTGCTCACCTTGGCAGTGGTGGGGATGCCCTCACCCTTGGGTTTCTGCTCCAGCTTCTTGGCCATCGTTGACTTCTCCTCTTCTGACTTGTCTGGGAGACCCCTGAGTTAGAAAACCCAAAGTGGAAGCCAAACCAGAAAGTTCTCAGGGATCTGCTGAACCTGACAACACCTTCAGGAGGATCCCACACCAAGGGCTCCAGGGGATCTGTAGGAGGAGTGGCATCAGCCCCCAAATGGGAAGGGCAGTGGGCTCAGGCAAGTCCCTTCTCTGTGGTGAGAGGGCCCGACACACAGCATGGGCCCATGGCTACCGGTGGCTCACTGGTCAGCCATGTTTAACGTTGGTTGATAGTGAATGGGTGGAGTGTGGCTTTGTACTGGGTTTATACGAGATTCATAGAGTGGAAGCATGGTTTGCCCAAGATGGCTCCAACTCTTTAGAAATGTCTGAACTCCATTGCTGGTCCCTCTTTTTCCATCTTGCCTCCACAGGAATGGGTGTCCCATTCCTGTAGGCATGGGCATTGGAAGAAGCAGAACTCTGTCTAGAACCTAGGTACTTGAAGCATAATCCTCCAACCAGCAGCATGGGCACCACCGGGGAGCCTGTTCGATGTAGAACTCCAACCCCGCCCAGAGGCATAGCGACTCAGTGACAGGGTTGGGAGGGGAATTCCCAGGATCCCTCCGCAGGGGAGCCCTGCCCAACTGGCCAGGCTCTGAGGCTCTGGCATTCTACATCCTGAGGCCTGTCTGTCCAGAAGGCCAACTTGTCTCTGTTCTTGCCCCCAGGGAAGGATCTCAGCCACCCCCATGTGCAGGTTACAGAAGTTTGCCCACTGAGGTGGGTGTCACCATGTCAGGGACCCTGATCATTGGGTTACAGGGAGGCCCTGTCCAGAGCTGGAAGGCCATGGCCACGACTGAGCACTCCAGGTCCCTTCCTGCTAAGGAAGCACTCACTTGGACATCTTCCTGCGTTTTTTCTCCTCAGCCTTGGCCTTCTGGGCAGAAGTCAGGCTCTCCGCCTCGGCCAGGTTGTCCACGGCAATGGCCAGGAAGACATTGAGCAGGATGTCTGAGCGGGTTTAGCTAAGGAGCCTTTGGTTGTAGGTGGAAGGGAGCCTGCAGGGCAGGAGTTCTGTCTGCCTGCATGTGGGCAGGACCTAACCCCACTCTCCCAGAGCTACCCATGGGAAGGTGTGGATCCAGGGACATAGTGGAAGGCCCTCAGGGAAGCCTGCCTGCTGAGAGTACCCAGGA 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Task1_train_2449 | 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. | Pathogenic; Hypokalemic periodic paralysis, type 1 | AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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Task1_train_2450 | 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? | Pathogenic; Congenital myopathy 18 | AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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Task1_train_2451 | 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? | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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Task1_train_2452 | 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; Thyrotoxic periodic paralysis, susceptibility to, 1 | AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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Task1_train_2453 | 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. | Pathogenic; Hypokalemic periodic paralysis, type 1 | AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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AGACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGTGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTC 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Task1_train_2454 | 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? | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | 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 | GACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCGGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTCC 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GACCAGCTTGGCCAACATGGTGAGACCCCATCACTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTACACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCGAAAAACAAAACAAAACCCCTATCCCAGTGATCTAGAAGCTTATTGCTGCTCTCTATGGACAAGAAATTGGACTGTGGGCTCACCATTTCCCTGTTCTCTTCCTAACCCCCGGGCTTCACTGTGCTTCACCCACCCAGGCCTCCTGTTATTCTGGCCTTAGAAGTCCTGTGAAATGTCGAGTCTCTTGAAAGGCCGGAGGCCTGACCAGCCAGTGGGGCTAATGGAAGAAAGAGAGGATCGACGGACGATCACACACTGCCTTTCTCACTGGTACAAAAGGGAGGTGTCACTCATGAAATATGGGCCACTCCAGAGAGGAATGTTTCCACGTCTACACTAAGAAAACTCCTCCAGGAGGCCAGGGACCCTGAAAGCTTCTCACTGGGCCACAGCCATGCTCCCTTGGGTGGCTGATAGTGAATCGGCTGTGCCGCCCCTGCAGAGTGAGAAATGGTTTGCGTTTCTCTGGGGCTTTCTCAGCCTTCGGGAGAAAAAGCTCCCCTTATCTGACTTTGCCCTGAGACCTGAGTGGCACATGAAAGCACGCATCCGGACTCCCAGGCCATCCCTAACCCAGTCATATTATCCTGCAGTAGGCCAGCACTGTGCTGGGCACCAGAAACAAAGACTAATCAGACAAAGTAGGTGCAGCTGCAGTGAAGGAGACCCATAAGCAAGTGTTACAATGGAGAGAAGCACAGGTGATAGGGGAGCCCAGAGAAGGACATTGCACTCAACCAGCAGATCAGACAAGGCTTCCTGGAGAAGGTGATGCCCACCTTGATCTTGAAGGACAAGAAGCAGGATTCAGCAACCGTTCAGAAGGAGGGACACGCAGAGGGAGAGCCTACCTGGAAGACGCTGATGAGGGCTTGGGGAAAGTTGTCAAAGTTGCTGCGCCGTACTTCTGTGTCTTCAAAGTCATACCTCCCCCCAAAGAGCTGCATGCCCAGGAGGGCGAAGATGACGATGAAGAGGAAGAGCAGCAGCAGCAGGGAGGCGATGGAGCGGATGGAGTTGAGCAGGGATGCCACCAGGTTGCTCAGCGACGTCCAATATCTGAAGGAAGAGGAGGCACAAGGTGGGAGGAGACAGACCCTCTCACTGGGGCCCACGAGGTGTGGACAGGCTTGGGGGAAAGACTCAGGACTGATGTGACACAGAGGGAGGGGGCTGCCTCACTGCTGGAAGACCCTGGATTCATGGCTGCATGCCCACTCTCTCCTTCCTGCAGAGCACTTGTCTGTTTGTAATTTCACGCTGGTTAATATGACTATTGATTAACTTTAGGTCCCATCACTGGACGAGAAACCCCGTGAGAATAAGGACAGCTTTTCTCCTGTGCACCCTCGATGCCCTGTGCTTAGCACAGTACCCAGCTCATGCAAGTGACGGATAAATAGTGCAAGCAGATGAACCTCTCTCCACTTCCCTCACCACCTCACAAAGGCCCTGATAGTCTGTGTTCCTCCTTCTTTCTTATTTCCACCCCTTTCCCTACAGCTCTTCCTGTCCTCCTTCCCTCTTCCCATCTTTCCTTTTCTTTTCTTCCTTTCTCTTTTCCACCACCCCCACTCCCTGCCCTGCCATAGACTATGGTAAGAAAAAAAACAGAGAAATGAGTTCAAAGTGGGGAAGTGATTCTTTTTTCACAGAAGGAGGTTATTTCAAGGAGGGAGGGAAGTCTGGGCAAGGGACCAGTGGTGAACCTGCACAGATCCCAGACCTCAGGAAATGAGATGGGTGTAGACCAGACCAGCCCGTGGTGCCTGCCGGGGACCCGGGAGTGCCAGCCGACCCCGGCACTCACTTGGTGATCTTGAAGATCCTCAGGAGGCGGATGCAGCCGAGCACGGAGATGCCCAGGGGTGTCATGGCACCCGACTCCACCAGCAGGATCTCCAGGATACCGCTACACACCACGAAGCAGTCGAAGCGGTTGAAGATAGACATGAAGTACTGGCGCAGGCCCAGCCCGTACATCTTCATCAGCATCTCAGTGGTGAAGAGGGACAGCAGCACCCGGTTGGCAATGTCTGTAGGGTTGGTGGCACAGCCCCGGCATCACTCTCCTTCCCTTCTCCTGACTCCCAGCCTTGGCTGTGGCTGGGCCTCAACCCAGGACGCCCCTTCCCTTGTTTCCAAGGCACCATGGATGTTTTTTGGGGGTGCAGGGGGCAGGGCCTCACTCTGCCCAGACTGGAGTGAAGTGGCACAATTATGGCACACTGCAGCCTCGACTTCCCAGGATCAAGTGATCCTCCCCACTACCGGCATGCACCACCACATCCAGCTAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTGGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTATGCCCAGCGAATTTTTAAATTAGCTTCAAAAAAAAAAAAAAAAAAAAAACCCGGTAAATTTTGCCCATTGATTTCTTGCAAGCTAACTCATATCATATTTAACAGGAAGAGGATTTTATTACTCTTAATTCTACTGAAGTTCATTAAGTCTGCTACTCTCTCATTCCTATACACCTCCCTCCTGGTAGAGAAGGGTCCTGCCACCTACCTGAAGCCAATCCATCCTCCCACGCTTTGCCCCCTCCCCCTTTTCGGGAAGCTCCCTGTCCGTGATTCTTTTTCTTTCCTATATATTTAACTTCTTTCTTTCAAATGGACCCTCACTTTGCCATTCTTAAAGCCAAAGTCTAGGCCGAGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTAAAACCCCCTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCATGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCTGGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAACCCAAGACTCTCCCATTTTCCCTCTATCTTCTATCCTAGCTCTCTCCTCCCTGTCACCGTCAAACTCCCGAAAGTTGTCTATATTGCTCTCTTCACTTCTTCACCCCCTGCCCTGCCACATTTGCTCTTCACCTCATCCCTACCTGGATGCACCCTCACTACTTCACCAACACTACTCTCTCCAGGGGCATCGATCTGCCACATCCAATGCTAATCTAACCCTCCTGCTCCTGACCTCCCAGCAGCACTGGGCACTGTTGACCATTCTCTTGCTTTTTCAAGCATTCTGTCCTTGGTTTCTGTGGTGCCACATCCTTCTGGGTTTCCTCTACTTCTCTGTATTTTCCTAAGCCTCCTCTGCAGATGCATTCTTTACATCAGCAAGTATAGGGTCTTCCAGTTCTCCCCACCCCTACCCCTCCACTTTCTTTCTGTGTCCTGACTGAAAATCGCAGAGCGCTTTGACCGCTCTGGGACCCGCAGCTACAGGTTTTCCTCAGCAGGCTTGACCTCAAACTGGGGCCTTGAACATTCCTAGGCACTAATAAAGGTAATAGGTGTTGCCCCAAACATTGAAAGGAACTGGCCACAGCCCTGAGCCAGATTCCTTAAACCCTTATCTAAAGTCCATGCCCTGACCCCATTGCTGCGGATAAGTCTGGGTAGAACACCCCTTTTCTCTTGCTGTCCATCATGAGAATTGCTGCAACATTCTGTATAGTAAGTTTCCCCAACAAAAGCTTTGGACTGATCACCCTGGCATTTAGTGCTTCTTTCTTTGGAATCGCAACCAACCCTATCTCAAGACTGTTTGGGGTAGTCC 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Task1_train_2457 | 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. | Pathogenic; Malignant hyperthermia, susceptibility to, 5 | AAGGCACAGAGAAGTTAGGTAATTAGGTAAAGCTCACACAGCCACCAAGCAGTAGTGCAGGGATTTAAATGTGGGCATTCTAGCTCCAGAGTCTGTGTGCTTAACCGAAAGCCCCACCGCCTCTTAGTGCTAAGGCTCCACTTAGGCACCCCCGGGGCCAGGAGGCTGGAGTTTCAGGGGCTTCACTGAGGAGTGTCAAAACAGAGGGACGGGAGGGGTGAGAATGGGGGAAGACTTGAGGAGGAGGAAAAAGGCAAATTAAAAATTGAAGGGCTCCTGTGTGCCTCTCCTCTCTTCCTGCTCACCAGGAAGGAAGCGCTCTTGGCCCAACTGAGATGACAGGGAACCCAGGGATGAGCCGAGGGCCTGACTCACAGCCCCCTGCCCTGCTCCACTCCTTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTCCACTCGCCCCCCACCCCTCCTGTTTCTTTTCCCTCCGTTCCTTTTCCTTCCTCCTCCTTCTCCCCTCCTCCTCTTTCTCTTTTCTCCCCTGGCTACCTTTGAATTTCTTACCCACTCAGGACACCCAGCACCAGGTTGAGGATGAAGAAGGATCCCAGCAAAATGAGGGTGACAAAATAGATCCAGGGCCACTCATTCCCGATGGCATCATTGACCTGGTCAGGACAGAAGTGTGATCCTCTGAGTTGAGGGCTTGGTTCCTCTTCCCCAAGTCTGCTCATTAAGACTCCACCCAACCCTGGGGGACAAGGAGAGAAGCCACGCTGGGATATTGAGGGGACATTTTTCCTAACCTGAGGACTAGTCTGGAAGAACTTTTCCAGCCTGAGGACTAGGATCTGGTCTGGAAGGATCTCCCTAGGGAGACCTTGCTGACTGCCTACCTGGCCCGGGCAAGACTGACCTAATTTCCCTCCAACCAAGAGTGTCTCCTATCTGCCTCCCTCACTTGATCTCCCTCATAGACTCTATCTCCAGTTGATTTATTTAAAGCCAAGATTTTTCAAATGAACAACGTCTGTGACCCCGGACAAGTCACCTAACATCTCTGAGCATTATTCCCAACCATCTAATGGCGATAATGACATGGGCTGTCTCTCCTCACAGGCTTGATACAGAGGTGAAATCATACATGTGACAGTCCTTTGACATTTTAAATAATTTGCTCTCCTAATACACACTTACAATAAATATTTGTACTAATCCTTGGTATTTGCAAAGCATTTGACAGTTTTACAATCCCCCCACCCCCACAATAGGCGGCGTCATATTGTGGTTAATTCTGGATTGGAGCCAGGGGGATCAGAGTTCGATTCTTGGCTCTGTTGCTCACTAAGTTCTTAACCATGGGCAAGTTACTTTAATCTCTCTGAGCCTCAGTTTCTTTATCTGTAAAATGGGAGCAATGCCTTCCATCATTGAAGGATGAAATAAGAAATCTAGCTCTTAACAAACACCAAATAAATAATATACTCCAACAAAGAAACTCTTACTGGAGTGTTGACTGTGTGCCGGGCACTGTTGTAATTCTCCCACTAACTCTGATATAGACAGTATTATTATCCTTATTTTATAGGTGAGGAAACTAATATCTAATAATAGTTATATGGGAAAGCAGTCTTGCAGAGGCAAGGAAAAAGACTCAAAGGGCCCTTCGTTCCTCAAAAAGTGTGAAATTCTAAGCCATCAGAATTGAGTCACTCACAGCCAGGTTTTTCCTGGTTTCCATTCTTCACCCGCCCCTTGGATCCTGCACAGACATATTGTATCATGGGGATTTCCCCATAGGATGCTGGGGCACATACCTGGGAACCAGAAAGGGACACACATCCTGTATAGATTCCCCAGGGAGGAGCAAGAGGGAGCTGTGGTCACGCAAGTCAGAGACTGGCCTCCTGTGTGGACTGGCAAGCCCTCCCTCCCCACTCCCTTGCAAGCCTGTGGATGAAGGGAGATGGTTCTGCAGGCGCGGGCCCAGACCCACCCAGTAAAGGACGTCAGTCCATCCCTCCATGGTAATGCACTGGTACACGGTGAGCATGGAGAAGCCGAAGTTGTCGAAGTGGGTGATGCCATGGTTGGGCCCTGGCCAGCCGCCCCGGCACTCACTGCCATTGATGGTGCACCGGCGCCCTGAGCCCGTCCTGGCGCAGGGCGATGGCTCTTCATTCTCCACCGTGGCCACGATATCTGGAGGCAGAAGGCAAAGGGAACATCAGACAACAGTAGTAGGTGGACAACGACAGGAGGAAAGGTGTATAAGAGCAATTTAAGAGAATTGAGCAGTAAGTCTAAAGACACTCTGCTGAAAATGCAAAAGACAGCTTCACATGGAGCAGACGGTGACAGTGAAGAGGAATGCCTTGGGCTGAGGATGGCTACAGGCAGCGGGAATTATGTCTTGGGCCCCTGGGCCTCATGGCAGGGTCGGCTTCTAGGATTAATTGTCCTAAGCAGTGCAACCCATGAAAGAGGAGTAATCTGAGTGTCATTTGTCCCCACAGAACTTTAAAAAAGAAGGCAGCTGCCTGGCTGGAGCAGGGCTGGAGGTGGAGGGCTCACATGTTCTGACTTGAGAGTTCTGTCTGGGAGGTGAAATTGGAGAAGCTCCAAAAGCACTGGGCTGAGCTTTACAAGATACCCAGCTGACGGGGCAGGGGTCTGCACTCAGGGGAAGTTCCCACCAGGCCCGAGCCTGCACTCTCCTTTGTTCCCCTGGATGATGCTTTCTTGTCTCTAAAATCCTGTACTTCTGATGACATCCTGCATCTCCTTTTATCTTAGGATGTTTTACAGTCTCCTTTTGTGTTCAGAGATTAGATTGGCTCATCAGAACTGGAACACCCTGCCTTACCCATATTTATCTATTTACCATGTAGGCTCAATGCTCTGAAGATGGAAAGGAGAGGACATTGATGGGTCTGTAGGGGCCCTGACCCCATGAAGTCAGAAGCCCCGATCCGAGAGGGGCTTTTGAGCACTGCTGCTCAGCATTCCTCAAGATCTCATGAGAACACCAGTGAGACCTCCAAATTTGGGTTGAAGGTGTGATCAAAGGTCACCTCCTATCCATCCTGATAATGCTTATGATAGGATGTAGATTGTGGTGGTGATGGGAGGAGGCTGAAATGGGAGGGGTCTAGGAATATAATCCCTGAAAGCTGGACCAGAGTTTACTCTTGTGAGTTGGGTTTAGGACTGGTGTTGACTGTCCCTTTGTTGTCAGCGGTCATGAGGAGGTGAGTAGAGTCTTCTGAGACACTGAAGGCCTAGAACAGTTATTCTGGTGAGTTCAATGCCAGGGCTTATGGAGGAGGCTAAGTCCCAGTGAGCTGCTGGCAGGGTAGAGCAGCCAGTCTCAGAGTGGGACCCGAGATTCTTTCAGAGTGTCGGCCTGACCAAAATGATTTTCACAATACTGCTGAGACGTTAGTTGCCCATCTGTCTCTCATTCTCTCAACAATGTAGACTGGAATTTTCCAGAGGCTACATGAGTTGTGATTTGGCAGCACACACACACAGAAGTTGATGTGAGAGTCCAGCAGCCTCTATCAAGCCAGGCAGTGAAGAGATTTACAAAAAGTGTAAAATAGCGTCACCACTCTTCTCACCAAATATTACTGGTTTTGGAAAAATCTAGTTATTTTTTATTAGAAATATACTATTTATGTTCTCATGTCATGGGTTTCTTACTGTTCTTTAAAAGTGAATTAATAAATTAATATTGTGACATGTTCCTCGGTTTTCATTTCTCATACCATGAATATCAACAGATCAAAACCTATATAAACAAAAGCTCTCTGAGGTCCTCAGTAATTTATATGAGAGAAAAGGGGTCCTGAGGCCAAAAAGTTTGAGAACTGCTGCTTCAGCTCAAATATATCTGGGCTTCAATGTAGGTTATTTCTGGAAACTCAAAAAATGACTCCATTTGGCTCTTGGGTGTTTTTTCTGAGGTCCCATTCAGACCCTATTCTGGGTGCCTGCTCTGAGGGTCAGCTCAGACTAAAGCTAAAACTATGCGACAGGAAATGTACACATAGAAATTCAAGCTTATCCCATGCCTATGTCTCCATCTACCACAGGTCCAGAGAGCCTGGAACATAC 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AAGGCACAGAGAAGTTAGGTAATTAGGTAAAGCTCACACAGCCACCAAGCAGTAGTGCAGGGATTTAAATGTGGGCATTCTAGCTCCAGAGTCTGTGTGCTTAACCGAAAGCCCCACCGCCTCTTAGTGCTAAGGCTCCACTTAGGCACCCCCGGGGCCAGGAGGCTGGAGTTTCAGGGGCTTCACTGAGGAGTGTCAAAACAGAGGGACGGGAGGGGTGAGAATGGGGGAAGACTTGAGGAGGAGGAAAAAGGCAAATTAAAAATTGAAGGGCTCCTGTGTGCCTCTCCTCTCTTCCTGCTCACCAGGAAGGAAGCGCTCTTGGCCCAACTGAGATGACAGGGAACCCAGGGATGAGCCGAGGGCCTGACTCACAGCCCCCTGCCCTGCTCCACTCCTTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTCCACTCGCCCCCCACCCCTCCTGTTTCTTTTCCCTCCGTTCCTTTTCCTTCCTCCTCCTTCTCCCCTCCTCCTCTTTCTCTTTTCTCCCCTGGCTACCTTTGAATTTCTTACCCACTCAGGACACCCAGCACCAGGTTGAGGATGAAGAAGGATCCCAGCAAAATGAGGGTGACAAAATAGATCCAGGGCCACTCATTCCCGATGGCATCATTGACCTGGTCAGGACAGAAGTGTGATCCTCTGAGTTGAGGGCTTGGTTCCTCTTCCCCAAGTCTGCTCATTAAGACTCCACCCAACCCTGGGGGACAAGGAGAGAAGCCACGCTGGGATATTGAGGGGACATTTTTCCTAACCTGAGGACTAGTCTGGAAGAACTTTTCCAGCCTGAGGACTAGGATCTGGTCTGGAAGGATCTCCCTAGGGAGACCTTGCTGACTGCCTACCTGGCCCGGGCAAGACTGACCTAATTTCCCTCCAACCAAGAGTGTCTCCTATCTGCCTCCCTCACTTGATCTCCCTCATAGACTCTATCTCCAGTTGATTTATTTAAAGCCAAGATTTTTCAAATGAACAACGTCTGTGACCCCGGACAAGTCACCTAACATCTCTGAGCATTATTCCCAACCATCTAATGGCGATAATGACATGGGCTGTCTCTCCTCACAGGCTTGATACAGAGGTGAAATCATACATGTGACAGTCCTTTGACATTTTAAATAATTTGCTCTCCTAATACACACTTACAATAAATATTTGTACTAATCCTTGGTATTTGCAAAGCATTTGACAGTTTTACAATCCCCCCACCCCCACAATAGGCGGCGTCATATTGTGGTTAATTCTGGATTGGAGCCAGGGGGATCAGAGTTCGATTCTTGGCTCTGTTGCTCACTAAGTTCTTAACCATGGGCAAGTTACTTTAATCTCTCTGAGCCTCAGTTTCTTTATCTGTAAAATGGGAGCAATGCCTTCCATCATTGAAGGATGAAATAAGAAATCTAGCTCTTAACAAACACCAAATAAATAATATACTCCAACAAAGAAACTCTTACTGGAGTGTTGACTGTGTGCCGGGCACTGTTGTAATTCTCCCACTAACTCTGATATAGACAGTATTATTATCCTTATTTTATAGGTGAGGAAACTAATATCTAATAATAGTTATATGGGAAAGCAGTCTTGCAGAGGCAAGGAAAAAGACTCAAAGGGCCCTTCGTTCCTCAAAAAGTGTGAAATTCTAAGCCATCAGAATTGAGTCACTCACAGCCAGGTTTTTCCTGGTTTCCATTCTTCACCCGCCCCTTGGATCCTGCACAGACATATTGTATCATGGGGATTTCCCCATAGGATGCTGGGGCACATACCTGGGAACCAGAAAGGGACACACATCCTGTATAGATTCCCCAGGGAGGAGCAAGAGGGAGCTGTGGTCACGCAAGTCAGAGACTGGCCTCCTGTGTGGACTGGCAAGCCCTCCCTCCCCACTCCCTTGCAAGCCTGTGGATGAAGGGAGATGGTTCTGCAGGCGCGGGCCCAGACCCACCCAGTAAAGGACGTCAGTCCATCCCTCCATGGTAATGCACTGGTACACGGTGAGCATGGAGAAGCCGAAGTTGTCTAAGTGGGTGATGCCATGGTTGGGCCCTGGCCAGCCGCCCCGGCACTCACTGCCATTGATGGTGCACCGGCGCCCTGAGCCCGTCCTGGCGCAGGGCGATGGCTCTTCATTCTCCACCGTGGCCACGATATCTGGAGGCAGAAGGCAAAGGGAACATCAGACAACAGTAGTAGGTGGACAACGACAGGAGGAAAGGTGTATAAGAGCAATTTAAGAGAATTGAGCAGTAAGTCTAAAGACACTCTGCTGAAAATGCAAAAGACAGCTTCACATGGAGCAGACGGTGACAGTGAAGAGGAATGCCTTGGGCTGAGGATGGCTACAGGCAGCGGGAATTATGTCTTGGGCCCCTGGGCCTCATGGCAGGGTCGGCTTCTAGGATTAATTGTCCTAAGCAGTGCAACCCATGAAAGAGGAGTAATCTGAGTGTCATTTGTCCCCACAGAACTTTAAAAAAGAAGGCAGCTGCCTGGCTGGAGCAGGGCTGGAGGTGGAGGGCTCACATGTTCTGACTTGAGAGTTCTGTCTGGGAGGTGAAATTGGAGAAGCTCCAAAAGCACTGGGCTGAGCTTTACAAGATACCCAGCTGACGGGGCAGGGGTCTGCACTCAGGGGAAGTTCCCACCAGGCCCGAGCCTGCACTCTCCTTTGTTCCCCTGGATGATGCTTTCTTGTCTCTAAAATCCTGTACTTCTGATGACATCCTGCATCTCCTTTTATCTTAGGATGTTTTACAGTCTCCTTTTGTGTTCAGAGATTAGATTGGCTCATCAGAACTGGAACACCCTGCCTTACCCATATTTATCTATTTACCATGTAGGCTCAATGCTCTGAAGATGGAAAGGAGAGGACATTGATGGGTCTGTAGGGGCCCTGACCCCATGAAGTCAGAAGCCCCGATCCGAGAGGGGCTTTTGAGCACTGCTGCTCAGCATTCCTCAAGATCTCATGAGAACACCAGTGAGACCTCCAAATTTGGGTTGAAGGTGTGATCAAAGGTCACCTCCTATCCATCCTGATAATGCTTATGATAGGATGTAGATTGTGGTGGTGATGGGAGGAGGCTGAAATGGGAGGGGTCTAGGAATATAATCCCTGAAAGCTGGACCAGAGTTTACTCTTGTGAGTTGGGTTTAGGACTGGTGTTGACTGTCCCTTTGTTGTCAGCGGTCATGAGGAGGTGAGTAGAGTCTTCTGAGACACTGAAGGCCTAGAACAGTTATTCTGGTGAGTTCAATGCCAGGGCTTATGGAGGAGGCTAAGTCCCAGTGAGCTGCTGGCAGGGTAGAGCAGCCAGTCTCAGAGTGGGACCCGAGATTCTTTCAGAGTGTCGGCCTGACCAAAATGATTTTCACAATACTGCTGAGACGTTAGTTGCCCATCTGTCTCTCATTCTCTCAACAATGTAGACTGGAATTTTCCAGAGGCTACATGAGTTGTGATTTGGCAGCACACACACACAGAAGTTGATGTGAGAGTCCAGCAGCCTCTATCAAGCCAGGCAGTGAAGAGATTTACAAAAAGTGTAAAATAGCGTCACCACTCTTCTCACCAAATATTACTGGTTTTGGAAAAATCTAGTTATTTTTTATTAGAAATATACTATTTATGTTCTCATGTCATGGGTTTCTTACTGTTCTTTAAAAGTGAATTAATAAATTAATATTGTGACATGTTCCTCGGTTTTCATTTCTCATACCATGAATATCAACAGATCAAAACCTATATAAACAAAAGCTCTCTGAGGTCCTCAGTAATTTATATGAGAGAAAAGGGGTCCTGAGGCCAAAAAGTTTGAGAACTGCTGCTTCAGCTCAAATATATCTGGGCTTCAATGTAGGTTATTTCTGGAAACTCAAAAAATGACTCCATTTGGCTCTTGGGTGTTTTTTCTGAGGTCCCATTCAGACCCTATTCTGGGTGCCTGCTCTGAGGGTCAGCTCAGACTAAAGCTAAAACTATGCGACAGGAAATGTACACATAGAAATTCAAGCTTATCCCATGCCTATGTCTCCATCTACCACAGGTCCAGAGAGCCTGGAACATAC 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Task1_train_2458 | 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. | Pathogenic; not provided | GCATTTATGATGGAGCCTTCTTGTCCCCACCAGAAGATGCTTGGATTCTGCTAATAACTATATCTCTTCAAACACACCATGCTGGCTCTTGCTTCTCAAACTTTCTATGTGCCGTTCCCAGCCCCACCCCCAACCTCTTCCCCTTGACTTCCCCCTCCTCACCCTCTGGTACTCGGCCTAGACACTCTTTCCTCCAGAAAGCCTTCCCACCTGCCAGGGCCAGGTGTGGTGCGTGGCTATGCCTCTCCCCAGCATCGCACCCCCCACCCGCCCCTGTCACCCAGGGCTGGGACCTCTGCTTGCTGTCTCCCTGCTGCTGGATGTGAGCTCTGTGAGCTCCATGAGCGATGTGCTGGCTTAAATCACAGCACCCCACACCCAACACAGTGTCTAGCACATAGTTGGTGCTCAGGAGGTATTTGAATGACTGAACGAATGAATGAATAAGAAATGAGGCCGAGACCCCAGGCTAAGCCCCTCCCTGTGGCCCAAGGACCATTTCCTCTTCATCTCTCACTACATGGATCCCAGTGCTTGGCATACAGCACAGGATAACATGTCTGCATTGTCTCCTGGGAGCATGAGAGCCACGCCTGCAGGAAGAGACCCGTCTAACAGAGTGTGGCATTGGATGGCATAGCTGTGACAGCACATGCTCTAGCAAGCAGAAATGGATTTGCTCTGGCTGGGAGACCACAGGAAGCCTTTCCAGACACAGCTCATGAGGCACTTGCTGATGGATGGCAAGTGGGGAGCCAAGGGAAGGAATCAGGAATTGGGGGAAATTCCACGCCTGACAAAGGAATGGAGGGTCAAGAGAATGTGTCGTCTCAGGCTCTCCTCTGGAGAGGAGGATGGTGCCCTCTCATCGTTTCCTTGTCTTTCTGCCAACTGAAATCCATGCCACCAAGCTGTCCTCTTCAGCTCAGGACCCTGTGACTTAAGCCCTCGAGGATGTGCAGATCATGGGAGGGGGAAACTGAGGCACCCAGACTAACCCACACCTCTCAACAACTCAGGCCTGAATAGCTGCCCAATAAAACTGGCCTTCCTTCCTTCCTCAAGAGCTCCCTGTCCCTCAGACACCTGGTTCCTAGGGCCCTGGCTAGGAGGAGAAAGAGAACGGGAACCATCCGAAGAGTCCTGCATTGTTCTCCAGTGAGTGACTCATGCAGGGAACACTCTGTCCCCCTCAACAGCACTTTTCCCATGTGCTGTTTTGGTGACTCCCAGGAGCAATGATCTGAAGCCCTTTCCACTGCTCCTGCCTCCTGGGCTGCACCCTGGGCCCTCCACCCTCTCCCCAGCTAGAGGCAAGCAGGGAGACCAGACAGGGGAAAGCTCCTTAGAGCTTGGCAGACACCGGGGACCTGTGAGAGCAGGGTCTCGCCTCAGTTTCTCTCTCTCTCTGAAGGGGACGTGACAGAAATGCCAGTCAGTGTGTGGTGGCTTTTTATTACTGGTGTGGAGTGGGTGTGGGGGCAGGCAGGAGTGGTGGCTCCCACCTAGGCCAGCTCCCCATTTCCAAACAGGAGCTGCCTGGGGTGCCCAGGAGGGCCCGGGAACTGGGGGAGTGCAGGCCGGAGGCAGGTGCGAGCGAGGAGCAGATCTTTGGTGAAGGAGGCCAGGCTCTATTTCCAGCGCCCGGTGACTTTAGCCTTCCCGCGGGTCTTGGAGCTGCAGGGGAAGCAGGACGCAGTGACATGGAGACACAGGCAGGGTAGTAGGTCACCATGCGGCTGGGGTAGGACTGGGGTGCCAAAGGGGAGAGGAGCAGGCTGGAGCTGCCTCCAGGGGCAGAATAGGACAGCAGCCTGAGGCTGGAGGGAAGCTTCTCCGCCCCACATTTCACCCCCACCAGCAAGCAGAGGCCACAGGGAGAGAAGCACGAGGCCCCGGAGGAGCCAGAGAAGGAAACCTGTGGGCTGAAGCAGAGGAGGAAGGGCTGGGAGCCTGGGGCCCTCCAAGGAGGAATGGGATAGCTGGAAGGTAGGGAAGGAGGGGGCAGGGGGAGGGCTAGGCGAGAATGACCTCAGACACTTACACTTTCTGGTTATCGTTGATCCTGTTTCGGAGAACATTGATCTGCAAGAAAAGTGGGAAGGACAAAGAGCAACGCTGGAGCTGACTGGCTCAGGTCCCAGGTGGCCTGGGGATGGGGAGAAGGGGGCTGAGTGCAGCAGTGCAGGAGGAGAAGGAGGAGCATGGAAGAGTAGGAGGGGTTAGGATAGTTAAGGGTCAGGAGGGGCCCGTGTACCACAGGCAGAAGCCAAGGAGAAGCTTCCAGGATGCCTCATGGGCCTCCCACTGTGGGGTCCCAGGGCCATAATAGGTTCAGGATATGAGAGTCCCATAAGAAGGGCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGT 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GCATTTATGATGGAGCCTTCTTGTCCCCACCAGAAGATGCTTGGATTCTGCTAATAACTATATCTCTTCAAACACACCATGCTGGCTCTTGCTTCTCAAACTTTCTATGTGCCGTTCCCAGCCCCACCCCCAACCTCTTCCCCTTGACTTCCCCCTCCTCACCCTCTGGTACTCGGCCTAGACACTCTTTCCTCCAGAAAGCCTTCCCACCTGCCAGGGCCAGGTGTGGTGCGTGGCTATGCCTCTCCCCAGCATCGCACCCCCCACCCGCCCCTGTCACCCAGGGCTGGGACCTCTGCTTGCTGTCTCCCTGCTGCTGGATGTGAGCTCTGTGAGCTCCATGAGCGATGTGCTGGCTTAAATCACAGCACCCCACACCCAACACAGTGTCTAGCACATAGTTGGTGCTCAGGAGGTATTTGAATGACTGAACGAATGAATGAATAAGAAATGAGGCCGAGACCCCAGGCTAAGCCCCTCCCTGTGGCCCAAGGACCATTTCCTCTTCATCTCTCACTACATGGATCCCAGTGCTTGGCATACAGCACAGGATAACATGTCTGCATTGTCTCCTGGGAGCATGAGAGCCACGCCTGCAGGAAGAGACCCGTCTAACAGAGTGTGGCATTGGATGGCATAGCTGTGACAGCACATGCTCTAGCAAGCAGAAATGGATTTGCTCTGGCTGGGAGACCACAGGAAGCCTTTCCAGACACAGCTCATGAGGCACTTGCTGATGGATGGCAAGTGGGGAGCCAAGGGAAGGAATCAGGAATTGGGGGAAATTCCACGCCTGACAAAGGAATGGAGGGTCAAGAGAATGTGTCGTCTCAGGCTCTCCTCTGGAGAGGAGGATGGTGCCCTCTCATCGTTTCCTTGTCTTTCTGCCAACTGAAATCCATGCCACCAAGCTGTCCTCTTCAGCTCAGGACCCTGTGACTTAAGCCCTCGAGGATGTGCAGATCATGGGAGGGGGAAACTGAGGCACCCAGACTAACCCACACCTCTCAACAACTCAGGCCTGAATAGCTGCCCAATAAAACTGGCCTTCCTTCCTTCCTCAAGAGCTCCCTGTCCCTCAGACACCTGGTTCCTAGGGCCCTGGCTAGGAGGAGAAAGAGAACGGGAACCATCCGAAGAGTCCTGCATTGTTCTCCAGTGAGTGACTCATGCAGGGAACACTCTGTCCCCCTCAACAGCACTTTTCCCATGTGCTGTTTTGGTGACTCCCAGGAGCAATGATCTGAAGCCCTTTCCACTGCTCCTGCCTCCTGGGCTGCACCCTGGGCCCTCCACCCTCTCCCCAGCTAGAGGCAAGCAGGGAGACCAGACAGGGGAAAGCTCCTTAGAGCTTGGCAGACACCGGGGACCTGTGAGAGCAGGGTCTCGCCTCAGTTTCTCTCTCTCTCTGAAGGGGACGTGACAGAAATGCCAGTCAGTGTGTGGTGGCTTTTTATTACTGGTGTGGAGTGGGTGTGGGGGCAGGCAGGAGTGGTGGCTCCCACCTAGGCCAGCTCCCCATTTCCAAACAGGAGCTGCCTGGGGTGCCCAGGAGGGCCCGGGAACTGGGGGAGTGCAGGCCGGAGGCAGGTGCGAGCGAGGAGCAGATCTTTGGTGAAGGAGGCCAGGCTCTATTTCCAGCGCCCGGTGACTTTAGCCTTCCCGCGGGTCTTGGAGCTGCAGGGGAAGCAGGACGCAGTGACATGGAGACACAGGCAGGGTAGTAGGTCACCATGCGGCTGGGGTAGGACTGGGGTGCCAAAGGGGAGAGGAGCAGGCTGGAGCTGCCTCCAGGGGCAGAATAGGACAGCAGCCTGAGGCTGGAGGGAAGCTTCTCCGCCCCACATTTCACCCCCACCAGCAAGCAGAGGCCACAGGGAGAGAAGCACGAGGCCCCGGAGGAGCCAGAGAAGGAAACCTGTGGGCTGAAGCAGAGGAGGAAGGGCTGGGAGCCTGGGGCCCTCCAAGGAGGAATGGGATAGCTGGAAGGTAGGGAAGGAGGGGGCAGGGGGAGGGCTAGGCGAGAATGACCTCAGACACTTACACTTCCTGGTTATCGTTGATCCTGTTTCGGAGAACATTGATCTGCAAGAAAAGTGGGAAGGACAAAGAGCAACGCTGGAGCTGACTGGCTCAGGTCCCAGGTGGCCTGGGGATGGGGAGAAGGGGGCTGAGTGCAGCAGTGCAGGAGGAGAAGGAGGAGCATGGAAGAGTAGGAGGGGTTAGGATAGTTAAGGGTCAGGAGGGGCCCGTGTACCACAGGCAGAAGCCAAGGAGAAGCTTCCAGGATGCCTCATGGGCCTCCCACTGTGGGGTCCCAGGGCCATAATAGGTTCAGGATATGAGAGTCCCATAAGAAGGGCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGT 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Task1_train_2459 | 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. | Pathogenic; Dilated cardiomyopathy 1D | GCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGT 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GCCTCTGAGAGCTGGGCACAAAGCTGGAGGCTGTGTCATGGAGCCCTCCTAGCAGCCCAGCCCCAGACCCCTCTGGGGCACCCCTGCCCAGCTGCCCACCATCCCGGAAGCTGTGCCCTTTGAGCAGTAGCATCCCCATGCACCACCCCTGCAGGGTGCTGCCCCAAAGTTTGGCAAATCTGTGTCCTGTTGGCCGGTGCAGAGTTCAGTGTGGAACCAAAAAAAGAGAAAAAAGTGGAAGGCACAGGACTAGAGAGGCCATAACAATGGCTGACACCTGCTGAGCATTTAGTGGGTGCCAGGCTCTGTCCTGAGCACCTTCCCAGATATGAACCCATAGGGCTGCTATGAGGGCATAGTAAGTTAATACATGGGACATGCTTGGAACAGTGGTTGGAACACTATAGCAATAATAACAATTAGTATTATCTCTGTAACCCTCACAATCACCCTCTGAAGTATATTGTAGTGTTACCTGTGGAAATGGAGGCAAGGAACAGTGGACTAACTCACCCAATGTCACACAGCCAGTGAGGGGCACAGGTAGAAATTCAACCCAGGCATTATGGCTCCAAAGTCCATGCCACTGTCACCAGGCAATACAGCCTCTCTCCGTATTGGGAGGTGGGAGTACCCTGTAGCCACTGCAGCCTGAGCCTGCCCAGCGAGGGGCTTCTTGCCCAGGGAGGAGTGGTTTGGCAGGAGCAGCAAAGGAGACCTTCCAGGGGAAGCTGAATTCTTCCCTTAGGTAGCAAAGAGGCCCTGGGACCGGGGCTCGGGGGTGGTGGGTAAGGAAGGACTGGCGCCCAGGTCTAAGCTCCGGTATGCAGCATCAGTGTCCTCTAAGCCATTTCCTTGCCTGGTGTCTGTTCACCTAAGACCCTCATTAGTGCACATAGGACTCCGAAAGACTGTGAGCTTGAGGCTCAGCCTAATTGTGCCCACACCAGGACCTTGGGTGTATGTGGGGAGAAGCACCTCTCTGTTGGCAGCACTCCCCTTCCACTGGGGGTCCTGGCTTGGTGCATCCTGGTCCTTGTAACCAGCTCAGATCACTGAGCTGCTGCCTCAACGTGTTGGAGACCCCCAGGGTTGGAACACCAGGAAAGTGTCTCTGCTCAGCCCCAGCGAGCTCTCAGACACTTCCAGCAAGCAGTCGTCAATGCGGTGGACATGGAACACTGCTGAAGGCCAGGCAGCAGGGGCAGATGCAGGAGCTGAAGGGGGCTGTTGGGGAATAGGGACAGGGACCCAGGGACCTGCAGCAGTATTACCGGACCCAGTGAACCAGGAGGAGTGTGAGATGGAGATGCTGGGCGGGGACAGCATGGCGGCCCACCTCATATTTCTGCTGCTTGAACTTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCAGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGT 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Task1_train_2460 | 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? | Pathogenic; Dilated cardiomyopathy 1D | 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 | TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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Task1_train_2462 | This gene mutation involves TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cardiomyopathy, familial restrictive, 3 | TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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Task1_train_2463 | Consider this mutation in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Hypertrophic cardiomyopathy 2 | TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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Task1_train_2464 | 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. | Pathogenic; Cardiovascular phenotype | TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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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 | 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? | Pathogenic; Hypertrophic cardiomyopathy 2 | TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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Task1_train_2467 | 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? | Pathogenic; Dilated cardiomyopathy 1D | TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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Task1_train_2468 | 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? | Pathogenic; Primary dilated cardiomyopathy | TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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TTCTCCTGCAGGTCGAACTTCTCTGCCTCCAAGTTATAGATGCTCTGCCACAGCTCCTTGGCCTTCTCCCTGCACGGGCAAGGGTGAGAATGGGGAGGTCCAGTAAGAAAGGGCCCTCCTGGGCCTCCGTCCTGGTCCCGGCCCAGCCCCCAGCATCCCAGCCCTCCTTCCCACCTCCAGGCCTGCCAAGGGTACCCCAGCCCACCCCCTGGGCCTGACCCAGCCTGGGGACCAGACGGCAGCACCCAGTGCTCAGGAACGGACACCAGGGACTGCCAGGGCAAAGTTCCAAGAACAAGCGGGGAGCAGGAGAAGCCCTTCTGGCGCAGGAGAGCATCTAGTTCAATCCCCTGTCCTGACACCCGTGTGCAGGTGGGTAGGTGAAGCTCAGAGGGGTGGGGCACCTGCTCAGTTCTCTTTCCCCATCAGCAAAGCCCAGAAAGGAGTTGGCCCGACCTGCTGGGGCCCAGCTCTGGTCCCACCAAACTTGCCATGGGAAAATATGTGAGGCAGTCCTGCCCTCTGGTGGCTCACAGCAAGAAGTGCCCTTGGCCCGACCCCTCCCAGAGCAGATGCGGGCAGTGCCCCAGGACCATTCCTCCCAGCCCCCACCTCAGCTGATCTTCATTCAGGTGGTCAATGGCCAGCACCTTCCTCCTCTCAGCCAGAATCTTCTTCTTCTTTTCCCGCTCAGTCTGCCTCTTCCCACTTTTCCGCTCTGTCTGGAGGGTGTGGGAAGCAGAGTAAACTGGCCAGATTGCCCCCTCCCTGTCCCCTAACCCTCCCCAAACCCCCTGGGGGTGGAGCAAGGCCTGCAGGAGGGCCAGGTTCTTATGCTCTTCTTCCTGCCACACCCCCCAACTACCAACTACATGTATTCCCTAGGGAAACTGAGGTAGGGGCAAGAAGGATCACGTCAGTCTCTTCCTTCTTTGCCTAACTAATCTCTTTCACCTCTCACCAGCTTCCCCCCTCCCCAGCCAGCCCAATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCAGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCA 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Task1_train_2469 | 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. | Pathogenic; Dilated cardiomyopathy 1D | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2470 | 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? | Pathogenic; Cardiomyopathy, familial restrictive, 3 | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2471 | 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? | Pathogenic; Hypertrophic cardiomyopathy | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2472 | 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? | Pathogenic; Primary dilated cardiomyopathy | 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? | Pathogenic; Dilated cardiomyopathy 1D | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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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 | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2475 | 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? | Pathogenic; Hypertrophic cardiomyopathy 2 | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2476 | 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? | Pathogenic; Hypertrophic cardiomyopathy 2 | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2477 | 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. | Pathogenic; Cardiomyopathy | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2478 | 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. | Pathogenic; Familial isolated dilated cardiomyopathy | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2479 | 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? | Pathogenic; Cardiovascular phenotype | AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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AATCTCTTCACTCCTCCCCTCCAGCAAGGCGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCAGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCAC 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Task1_train_2480 | Here’s a variant in TNNT2 (troponin T2, cardiac type) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dilated cardiomyopathy 1D | CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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Task1_train_2481 | 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? | Pathogenic; Hypertrophic cardiomyopathy 2 | CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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Task1_train_2482 | This variant affects gene TNNT2 (troponin T2, cardiac type) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiomyopathy, familial restrictive, 3 | 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? | Pathogenic; Primary dilated cardiomyopathy | CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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Task1_train_2484 | 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? | Pathogenic; Hypertrophic cardiomyopathy 2 | CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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Task1_train_2485 | 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? | Pathogenic; Dilated cardiomyopathy 1D | CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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Task1_train_2486 | 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. | Pathogenic; Cardiomyopathy, familial restrictive, 3 | CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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CGCCTTCCCCTCCCAGGGAGCTCTCCAAAACTATGGGGAGGAAGAAGGCTTGAGGTTTTTGGTACCCACCTGGGCCTGCTAAACCGGGAAACCATGAGAGAGAGGCCCATAGAAAAAGACCAAGACGGCAACAGAGACACAGAGAGAAGGCAGGAAGACAAAGGCAAGGAGAGACATGGAAGAGAAGATTCAGATACTCGCTGTAGTCAGCCGGGTTTACTAGGACGTGGGTCTGAGGGTTACAGCAGGGGCTGTTCGGTAGCATGAAGACTTTGATGCCAAAGTCTTGGCTGGTGTGGTCACCATGGGGGCAGAGGCAGGGGGTGGCCTAGTCCTGAGCTAGGGACTAAGCTGGAAATCTAAGAAAATGTTTTGATTCCTTCACTACCTAGAGAAAATCAATTTCACATATCCCTCCTCCCTCGAGAATGGAGGACCTAGGAGGAATGGGGCACAAAAGTTAGGGATCGAGAGTGAGTTTCCAGGAACAAACAACCTCACATCTGTGTGGCACATAGACACTTTCCATGGTAGCTCATTTGAGCTTCTCAAAGCATCAAGGCAGGCAATATGAGTGCCAGTTGAGGAAACCGAGGCTCAGAGGTTGCAAAAGGTCACACAACTGTATGTGGCAGAGCTGGGTCTCCAACTAGAGCTCTGACTCTAGGCACAAGGCTCTTCCAGCTGCACCCAGCCTCCTTGGGGGCTCCTGAGCACTGCTGGAGCCAGGCATGGGGGGCACCATTGGTGCCCCAGGCTCTGCCTGTAGCCCCCTACCCCAGCAAGCCCCTCCTAGTGCAAGCCGCGGTCAGGCTGAAAACCAGCTCAGGGCTGGGCATGAGGAGACCTCAGTCTTCCACCCACAGCAGCTGGGAATCTCTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCTGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACC 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Task1_train_2487 | 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. | Pathogenic; Hypertrophic cardiomyopathy 2 | CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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Task1_train_2488 | Gene TNNT2 (troponin T2, cardiac type), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypertrophic cardiomyopathy | CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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Task1_train_2489 | 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? | Pathogenic; Cardiomyopathy | CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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Task1_train_2490 | 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? | Pathogenic; Dilated cardiomyopathy 1D | CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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Task1_train_2491 | 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. | Pathogenic; Cardiomyopathy, familial restrictive, 3 | CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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CTTCCTGGGACCTGACCTAAAGTCTACCTGCTGCAGTGGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAATGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGA 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Task1_train_2492 | 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. | Pathogenic; Hypertrophic cardiomyopathy 2 | GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC 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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCGTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC 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Task1_train_2493 | 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. | Pathogenic; Dilated cardiomyopathy 1D | GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC 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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCGTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC 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Task1_train_2494 | 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? | Pathogenic; Cardiomyopathy, familial restrictive, 3 | GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC 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GGACACCTCATTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCGTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCC 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Task1_train_2495 | An alteration has been detected in TNNT2 (troponin T2, cardiac type) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypertrophic cardiomyopathy | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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Task1_train_2496 | 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. | Pathogenic; Hypertrophic cardiomyopathy 2 | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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Task1_train_2497 | This variant affects gene TNNT2 (troponin T2, cardiac type) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiomyopathy, familial restrictive, 3 | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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Task1_train_2498 | 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. | Pathogenic; Cardiovascular phenotype | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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Task1_train_2499 | 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? | Pathogenic; Dilated cardiomyopathy 1D | TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGCGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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TTCCTCAGGGCTATACTAGGATCTCCTGGCAACCCCTGCTGCTCCCTACCTACCTTCTGGATGTAACCCCCAAAATGCATCATGTTGGACAAAGCCTTCTTCTTCCGGGCCTCATCCTCAGCCTTCCTCCTGTTCTCCTCCTCCTCTCGTCGAGCCCTCTCTTCCTGATTTACAGCAGGGAGGAAGAAAGCAAATTAGGGGAAAGGATTGGAAACCCTGATTCTGGGCTGAAGCTTGTGGTCTTTATGGGTGAGTTCAGCTTTCTCTCCGCTCAGCAAGGAGCTTTCTGAGAGGGTAGCTCCCAGCACAGTGCTGGCCCACAGGAGTCCACTGACTGAGAAATGACTGCGTGATTGAATGAGGTCCTGATTCCCAAATGTGAGGTCTCGTCATCCCCTTAAGCTGGGAGTGCCCCTGGAAGACCTGTTGCTCTGGAAATGCCTTCAGCAGCTGCACAGGAAGAGAGCTACGGGGCCTTCGGTTCCCACGAAGTCTGCACTGGGGAAGGGATGAGGGCTGGAGAGTCTTATAAAATAACACGTTCATAAGGACGCAGGCATTTCTGTCTTGTTTGCTGATGTATTATCAGAGCCAAGACAATGCCCAGCACTTCCTAGGTTGATATTGATATTGTCTCTTTTTTTTCCTTTTTTTTTTTTTTTGAGTTGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCATGACCTCGGCTCACTGCAACCTTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATGACCGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCGTTGGTCAGGATGGTCTCGAACTCCCAACCTCAAGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAATATTGTCTCTTGACTGATTTCATTCATGTTGATGAATAGAGAGGGGCCTGGGGGCCCAGCAGGAGCTGGGAGCATGGGGGGCCTCCATGGGCCTGGGCTAGGGGTCACTCACAGCCAGGCGGTTCTGCCGCTCCTTCTCCCGCTCATTCCGGATGCGCTGCTGCTCGGCCCGCTCTGCCCGACGTCTCTCCTAAGGAGAAGAGGCAAAGCCCACCCAGGTGTGCATAGGGAGAAGGTGACATCGCAGGTACAGAAACCTGCATGGGGTGGCAAGGGAATTCCTGGGGGAGGGTTCCTTCCAGAGTCTTGAAGCAATGGTGCCCGGCCTCCAAGGGCCTCCACTTTCAACCAGCTCCACGGACGTGCACACCAGGGTACCTGCAGTGACCCACCTCCAACATTCCTCATGGTGAGACTGCCCTCCACAACTGGGAGACATCAGGCAGGCTCCTTCTGGGCTCTGCCCCCACCTCCATCCCACCCTGCCCTGGCAGCTGCTCTGTGCCATATGCTTGGATAGATGGCCAAGTCATTGCTCCAGCCAGAGCAGCATGTCTGTGGGAAGGCAAGTTTGATGGGGAGAAACAAAAGCAATCAAAGCAGCCTCCACGCTCTGCAGGAGAAGGATGTGGGATTCTGCAGGTCACACTCCCCTTCATCTGCGGGGGAAGAGGAGGCAAGGGCAGGGGTGGCGCAGCAGGCCTGTGACCAATCAGTCCACAGCCCGGGCCTGAATTAGGCCCTGGGGGAGGCCTGAAACAGATCAGACTCAGCTCTGGCAGTCAAGGAGCATCCAGTAGGATGGGGAGGGAAGGCAGGGACCCGAGAAACCAGTCAGGGCTGCAGGAGCTGTGCAGAATGCTGGAGGGCCTCTGAAGGAGACCTCACACCTAGCTGGGTTTGAGGCGCCGAGGAAGGCTGTCTGGAGGAGGTGGGGCCTCACAAAAGGGATGGAGGACAGACTGGGCCATCAGAGAATGTTAGGTGGGCAGACTGGACACCTACGATCCTGTCTTTGAGAGAAACGAGCTCCTCCTCCTCTTTCTTCCTGTTCTCAAAGTGAGCCTCGATCAGCGCCTGCAACTCATTCAGGTCCTTCTCCATGTGCTTCCGGTGGATGTCCTGTGGGTGGACCGCTGCGGCTCAGAGGCTGCCACTCCAAAGAGTCCAGAGGAGAGATGGGTGGGCTAGACACCCCCCAACGCAGTGCAAAAGACCTCTGGCAGGGCCTGGCGCCTGGCCAGGGAAGGGGTAACTGTGGCCTGAACCCAGGACCACGCTCATGGATGGGCACCCAGCCTGGCTGGTGCTGCACCCCATCCCACCTATGCTCTACCCCAGCCCAAGGTCACAAAATCTCTGTCACTGAGGGCCCTTGGGACTATCCCCAGCCCAGGCCTACTCAACCCACAGCCACCGCTTACATCAAAGTCCACTCTCTCTCCATCGGGGATCTTGGGAGGCACCAAGTTGGGCATGAACGACCTGTTGGAGAGAGGAATAGTCAGCATCAGCCCCATTCTGGACCCAGGGACTGAGGGTGTCCAGGACAGGCAGGGCCCTGATCCTTCCTAGAGAATCTTCCAGCACTGCCCCGACCAACCACAGCAATGATAGTAACACTGACGTCAACAATGGCAGTCCTCAGCCTTGCTCAGCACCTGGGAATACACAAAGCTCTTTCACATATGCTATTTCACTTCATGCTCATGATATGCCCATGAAGTGGGTACCGTTAATCTCACTTAGGAGAACTGAGGCTCAGGGAGGTAGAATGACTTGCTCAAAGCCACACAACTTGGAATCAAAGAAGCTGTGACAAGATGCCATGCTTCTTGGACTTCAAATCCCCTGGTGGACCCCGCAGAAACTGGCCATGAACCTGGGAGTCTTGCAGTTTGGTCCTGGTCCCAACACATACTGAGACCCAGGGGGTTCTCTGATTCTTCATGTCCCCATCTGCCCTCAGGTGTGTGGAGCTGAAATGAGATACCGCAGTGCACAAGAGGCCAGGAAGGGGGAAGGCACTGGGCAAATAAATGGATCTGGGATGTCTTGGGCTGGTTTCAGAAGGCCCCACTGAAATGGGAAGAGCCTGTGAGTGGGCAGAGGTGCCATGGGTCAACCTCTGCTGGCAGGGTTGGCATCATAAAAAGGGAAATGCTCCCTATCCCCCAGCCCCCCCCAGCACACACCACCTTCAGGTGGGCTTCACGTGTGTGGCACCAAGCCGTCCTGCCCTCTCTCAGCTCTCTGAAGCCGCCATGCCTATGCTGGCACGGTTTCATTGTTTGGCTCCCCACAATTTGCTTCCCTTAATCCCAAGGTCCCACCTCGGCCATGGAGGAGGGTGTTCTGGCCATACTGTGAGAGAGGAGAGTGTCCGTTCAGGGCCCTTCCTCTAGAAGAACATAGCCCCATCCCTGCTAGGGTGCACGATTGGTGATGGAGTGTTGGGTGGAATTCAGCCCTCACTCACTCCCTTAGGAAGAGACGCTTGTGCAGTACACAACTTGTACAACTGTACTGTGGTGCTCTGTGCCCACCAAACCCCCAGCCCGTGTCCACTGCACCATACTGCACCCCGTTCCATCATCATCCTCTCTCCCTGAGCCTCTGCTCCCGGCTCTACCCAGGTGCCTCCCCACTCACCTGGGCTTTGGTTTGGACTCCTCCATTGGGCCATCTGGAGGAGATAGAAGCACACAGCCATGGGTCAGGGGGCCCCAGAAGTGGTCCCAACTCCGCCCTCGATGAGCTAGATCCCTGTGGATTTCCATTTCCCCATCTGCACAGTGAGTCCCTCCCGGCACTGGGGAGCCCTGATTCCAGAAGCATCCAGGAGAATGAAGGCAGCGGGGGCTGCAGATGCCACACTCCCCCTCCCATAGAGTTCTGCAGGGCACACACTCACGCAGTGTGGAACTTCACACAAAGCCTTCTCTCACTCACCAGTTCTGGGCAAAGCAATTTTGCTTCTCTTGTGCTTCACAGTGACAAGGCCTTTGGAAAGGTCCCCAAGGGTCCTGGCCCTAGAATCCCCTCCCAGGTCTTTGCCTTCTTTGTTACCCCTTGGACTTCCCGGTGGCCACAGGGCAGAAGCTGATGACATGATTCCAAGCCCCAGCTGGTTGTCCCCTCCCCTTTGGAGAA 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