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_16900
|
The variant affects gene JAM3 (junctional adhesion molecule 3), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Porencephaly-microcephaly-bilateral congenital cataract syndrome
|
ATAGGCGTGAGCCACCACGCCTGGCCAGGGCTTAGCATTTTATTGTTGGTTTACATTCAGTTCCCCGAGCTCTTTTAAGAAGTGCATGTCTCCCTAGTAAGCCACACCTTAGAAATAAGCATATTCAGATGAGTAATGCTGTGATGGAGGCAGAGCCTCCTCAGCCCTGCTCACGGAATGCTTCCAGGACTTTGCTGCTGGCCTTATTGAGCTCTGATTCCCTTCTGCACAGGGTCAGAGCTCTCCAGGGAACAATGAAACCCTAAGGAAGAGCAGACCACTTCACAGCCACGTGTGTCCTACCCCACTCTGCTGCATCCCTAGTTAGACTTCCATTCCAGGAACTGTCTCAGCTGTTGGTAATGACATGCCGACTCCATCTGCAGAGGAAAATCAATGTCTTACAATGAAGCACCTGCCATCCACTCTCCTAGGAACCTCTGCCCCTTATAGAATATTCATGCAGCCCTTTTTTGTAATCTCGGTCTGAGTTTCAAAAGATTCCCTAGCAGGAAGACCATTTAACAGATAGACCATTTTACAACGCAAACACTGAAAATTCCGCAGGAGAAAAGAGGCACTGGTTTTTGAAAACCGTGCTCTGTCCACAGTCAGACACCATCTCACATTTCCAAGTAACCCAAACAGTTCCTTCAGTTAGGTAAATATGCCTGGCCATGTGACCAGGAGCTAAAGGGAATAATAGGGAAAACAGAGGGCAGAAAAAAATGTCAGTGGGCATAAGACGAATTTTCTTCTTTTTAATTTCTCGATTTTGTGCTTGATAAAGGGAAAGAGGCCACCATTATAAAACAACTTTTACACACTTTTACTTGTGATTTAGTGCATGGTGACCTGGAACATAAAGAAGATTTATGAAAGGAAAGACAGAATCATAGTAGGTAATTGAGTTATTTTTTAATTTTTATTCTGTCTTTATAAGATTTTTGAGAAGGTAATCAATTAACATAAAGATCTGAGCAGTTATAAAGATTTACAAAGAAGATTATACAGTGATGGAAACTGAAGCATATTCTTGGCAACAATCTCAATCTATTTCACGTTTCCCGGCTTTTACATATATAAATTTGGTATACATAATATGTAAATATACTTCTATTTTGCATGAAAACTAAAAATACTAAAAAAGTAGCATGAGTATATGAAAAAGTTAAACATTAAAAATATTAGTTGGAAACTGGCTTATTTTACTAACAATTATATTCAGAATTCTGTTGCTAGACTGCTGTTTCTGGGAACATTGGAGGTGTACTTTCTATACTTGCTAAAATACAAGCTTTTCAAGTATTTTCCATAGTATTAAGTGAGACTTTAAATACTCTTGCTTTTTTAGATCTAATTTCTGCTTTAATTTATCCTTCTCTTCATTTTTCCTGTTTGTCCTCATCTTACCTGTTCTTCCCTGGTTTTACTATCTCCCAGTATTCAGAAATCAGAGCAAATAATTAGTCTGCTTTTCTGCAGAATAAACTATTGGGTATGCCATCATGCTTTTGATCTACCACATAAACAAATTATTTTAGCAAGACATCACTTTTATATGCTGTATAATGTATGTATTGCTTATGTTTTAAGCAGATTTCAGCTCTTTTCCTTCCATCAATTTGGAATTGGGGGCCCAAAAGATGTGAAGGCGATAATGCTTCCAAGATAACTGGGCTGCATCCTTATTTGTAAAATAAGAAATACTTTATTTCCCAAATTTTAAAGGAGTGTTCCTTCTCCGACCTGTTGTGATGGATTTATTCTATAGCTATGGAAATATACCCTGCTTCACTCTTGTACATACTTCTTTACTCTCCTCCCGCCAAGTTCATTGAAAGAGAACCCATGTGCCGGTCCAGAGCATCGCTGCATCCGTAAGCAGCTAGACCTCAGCTTCCTCTGTCACCATGGTGCCGGCTCGGCTGGGCCCGGCGGTCGCCATGGTAACTGGGGCGGGTCGCAGGGTCCTGGCAGGCTGGGCGCATGCGCGCGGGGACTACAAGCCGCGCCGCGCTGCCGCTGGCCCCTCAGCAACCCTCGACATGGCGCTGAGGCGGCCACCGCGACTCCGGCTCTGCGCTCGGCTGCCTGACTTCTTCCTGCTGCTGCTTTTCAGGGGTGAGTTTGCGCGTTTCCGCTGTTGGGAGACTAGGGTCTGGGGGCGACGGAAGCAGAGCGGGCCGAAGCTGCTGGAGCCGGTCCGGGCGAGGATAGCGGTCCTGGCTCCGAGGGCTCCCGGGGTCCCGGGCCGGAGGGGCGGCGCGCGCCCGCGTCCCCGCAGCCAGGGCTGGGACTCGGGCCTGGCTAGGGCGGGGGCCCTGGGACGCCCGGCAGTTGGACCGGGGCGGGGAGCTAATTTGGGATGGGGGGCCCGTCCCAGGCAGTGAGTCGGTCCCGGACAGCCGTCGGACCCCGGGGGCGGGCTCTTCTCGGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCGTCCCCGGGGTGGACCCCTCCCGGGCGGTGGGCACGGCCCTCTGGAGGGAGCGCGGCAGCTGCGGCGTGGGCGCTGGAACTTGCTGGAAGACCCTGCGCAGCAGTGCTGTGCTCTCCAGAAGGGACGGTGAGCGGGGGACGTAGCTGAGGACCGGCGAGGCAGAGCTCCGAGGCCTGGCGGGCTGCTTGGTCACAGCCCTCTGGGGATCTGCAGTTCATTTGACTCGACACAAAGGAACTGCTTTTCTTTTACAGAAATAAAATGGATATCAATCCAGTACCTTTTTTGTCTCTGGCCTGGCCGAGGAGACCACGCAGACTCTTATCCGGAAATAGCATTCGGGGCATTTGATCAAGACACACTAATAAACTTGATAGTTTTGTGCATTTTCTTTCCCTCTGTTTGGAATTCTCATTAGATCCACATTTTCCTGGACAGTTGTACAGAGGACTAAAATAGCTTTCCTTTAGTGAGCTTGTACTGTCTACTAGGCACTTTGGAGCCATTATCTCGTTTACTCCTTTCAGCAGCTCTGTGAGATAGGTTTCATTAATCCATTTTCAGAGTCAAGTCTAGTCTGCTTTCCAAGGCTGCATTCTAAGTAGTGAAGCCTCAACTTCATATTTACCTAAAGCAGGACACCACACTCTTCCCCTGGCAGCCATCCGCAGGTAACCAGACCAGGACCTTTTTCGGTTCTTAGATTATTTTATTGTTTGAATTGCCACTGTCATCCCATGATGTTTTCCAGAATATACAAATTAAAACACGGAGGGACTGTTTAGGAGTGAAGGTGGACAGATTTTGGAAAACAAAGCATTCCTGTGTTTGGTGCTTTATGCTAATGGGATGCTCGTGATGGGCTGTGACAAAAGATGAGTTTTAGCGTATAGATTATGTACGCTAAGGCAAAGTCTGTATACTTTGCCTGAAAGTGATTCCCAAAACCAAATGCTGTTGGGAGATAAGTGATCAAAGGCTAGCCAGGGGACAAGGGTGTCAGGAATGTCCAGCACCCGCTGTGTTGGTCACACTGACACTGTCCTATTCACAGCCTGGAACAACTCTCTATTGTTGAAAAGATCTGTTCACGTGAAAGTTTGCAGTTTTTGTTGCAGAAGCATTTGGCAGTTTAGCTCAGGAATGAATTTCAACTTGGTAGTTTGTTAATAAAACTAGAAAATGCAAAGAGCTTCACTTACCCTTAACCTCTGATTTCCTTCCCCTAAGGGACTAGTTTTGTGGCTTTTTTGCTGGTAGGGGCTGGGATTCACATGCAGAGCGTAGGAGGAAGAATCAAATTTTGCAAACTAGTTCTAATGACAAATAATCGAGGTAGTAGGATGTATGAATCCACTTTGAAGGCGTGTAGCTATCTTTTTTTTAGTAGGGGCTCTTTTTCCATTATTTGGTTTATGCTTTAAGCTACCCTAAAACTGTTCTTCCAGAAGTCATGACTACTGTGTCCTTTTTATTTTTTATGATTATTCTCAATTGCTATTACTATTTATTTTCATCTTAAAA
|
ATAGGCGTGAGCCACCACGCCTGGCCAGGGCTTAGCATTTTATTGTTGGTTTACATTCAGTTCCCCGAGCTCTTTTAAGAAGTGCATGTCTCCCTAGTAAGCCACACCTTAGAAATAAGCATATTCAGATGAGTAATGCTGTGATGGAGGCAGAGCCTCCTCAGCCCTGCTCACGGAATGCTTCCAGGACTTTGCTGCTGGCCTTATTGAGCTCTGATTCCCTTCTGCACAGGGTCAGAGCTCTCCAGGGAACAATGAAACCCTAAGGAAGAGCAGACCACTTCACAGCCACGTGTGTCCTACCCCACTCTGCTGCATCCCTAGTTAGACTTCCATTCCAGGAACTGTCTCAGCTGTTGGTAATGACATGCCGACTCCATCTGCAGAGGAAAATCAATGTCTTACAATGAAGCACCTGCCATCCACTCTCCTAGGAACCTCTGCCCCTTATAGAATATTCATGCAGCCCTTTTTTGTAATCTCGGTCTGAGTTTCAAAAGATTCCCTAGCAGGAAGACCATTTAACAGATAGACCATTTTACAACGCAAACACTGAAAATTCCGCAGGAGAAAAGAGGCACTGGTTTTTGAAAACCGTGCTCTGTCCACAGTCAGACACCATCTCACATTTCCAAGTAACCCAAACAGTTCCTTCAGTTAGGTAAATATGCCTGGCCATGTGACCAGGAGCTAAAGGGAATAATAGGGAAAACAGAGGGCAGAAAAAAATGTCAGTGGGCATAAGACGAATTTTCTTCTTTTTAATTTCTCGATTTTGTGCTTGATAAAGGGAAAGAGGCCACCATTATAAAACAACTTTTACACACTTTTACTTGTGATTTAGTGCATGGTGACCTGGAACATAAAGAAGATTTATGAAAGGAAAGACAGAATCATAGTAGGTAATTGAGTTATTTTTTAATTTTTATTCTGTCTTTATAAGATTTTTGAGAAGGTAATCAATTAACATAAAGATCTGAGCAGTTATAAAGATTTACAAAGAAGATTATACAGTGATGGAAACTGAAGCATATTCTTGGCAACAATCTCAATCTATTTCACGTTTCCCGGCTTTTACATATATAAATTTGGTATACATAATATGTAAATATACTTCTATTTTGCATGAAAACTAAAAATACTAAAAAAGTAGCATGAGTATATGAAAAAGTTAAACATTAAAAATATTAGTTGGAAACTGGCTTATTTTACTAACAATTATATTCAGAATTCTGTTGCTAGACTGCTGTTTCTGGGAACATTGGAGGTGTACTTTCTATACTTGCTAAAATACAAGCTTTTCAAGTATTTTCCATAGTATTAAGTGAGACTTTAAATACTCTTGCTTTTTTAGATCTAATTTCTGCTTTAATTTATCCTTCTCTTCATTTTTCCTGTTTGTCCTCATCTTACCTGTTCTTCCCTGGTTTTACTATCTCCCAGTATTCAGAAATCAGAGCAAATAATTAGTCTGCTTTTCTGCAGAATAAACTATTGGGTATGCCATCATGCTTTTGATCTACCACATAAACAAATTATTTTAGCAAGACATCACTTTTATATGCTGTATAATGTATGTATTGCTTATGTTTTAAGCAGATTTCAGCTCTTTTCCTTCCATCAATTTGGAATTGGGGGCCCAAAAGATGTGAAGGCGATAATGCTTCCAAGATAACTGGGCTGCATCCTTATTTGTAAAATAAGAAATACTTTATTTCCCAAATTTTAAAGGAGTGTTCCTTCTCCGACCTGTTGTGATGGATTTATTCTATAGCTATGGAAATATACCCTGCTTCACTCTTGTACATACTTCTTTACTCTCCTCCCGCCAAGTTCATTGAAAGAGAACCCATGTGCCGGTCCAGAGCATCGCTGCATCCGTAAGCAGCTAGACCTCAGCTTCCTCTGTCACCATGGTGCCGGCTCGGCTGGGCCCGGCGGTCGCCATGGTAACTGGGGCGGGTCGCAGGGTCCTGGCAGGCTGGGCGCATGCGCGCGGGGACTACAAGCCGCGCCGCGCTGCCGCTGGCCCCTCAGCAACCCTCGACGTGGCGCTGAGGCGGCCACCGCGACTCCGGCTCTGCGCTCGGCTGCCTGACTTCTTCCTGCTGCTGCTTTTCAGGGGTGAGTTTGCGCGTTTCCGCTGTTGGGAGACTAGGGTCTGGGGGCGACGGAAGCAGAGCGGGCCGAAGCTGCTGGAGCCGGTCCGGGCGAGGATAGCGGTCCTGGCTCCGAGGGCTCCCGGGGTCCCGGGCCGGAGGGGCGGCGCGCGCCCGCGTCCCCGCAGCCAGGGCTGGGACTCGGGCCTGGCTAGGGCGGGGGCCCTGGGACGCCCGGCAGTTGGACCGGGGCGGGGAGCTAATTTGGGATGGGGGGCCCGTCCCAGGCAGTGAGTCGGTCCCGGACAGCCGTCGGACCCCGGGGGCGGGCTCTTCTCGGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCGTCCCCGGGGTGGACCCCTCCCGGGCGGTGGGCACGGCCCTCTGGAGGGAGCGCGGCAGCTGCGGCGTGGGCGCTGGAACTTGCTGGAAGACCCTGCGCAGCAGTGCTGTGCTCTCCAGAAGGGACGGTGAGCGGGGGACGTAGCTGAGGACCGGCGAGGCAGAGCTCCGAGGCCTGGCGGGCTGCTTGGTCACAGCCCTCTGGGGATCTGCAGTTCATTTGACTCGACACAAAGGAACTGCTTTTCTTTTACAGAAATAAAATGGATATCAATCCAGTACCTTTTTTGTCTCTGGCCTGGCCGAGGAGACCACGCAGACTCTTATCCGGAAATAGCATTCGGGGCATTTGATCAAGACACACTAATAAACTTGATAGTTTTGTGCATTTTCTTTCCCTCTGTTTGGAATTCTCATTAGATCCACATTTTCCTGGACAGTTGTACAGAGGACTAAAATAGCTTTCCTTTAGTGAGCTTGTACTGTCTACTAGGCACTTTGGAGCCATTATCTCGTTTACTCCTTTCAGCAGCTCTGTGAGATAGGTTTCATTAATCCATTTTCAGAGTCAAGTCTAGTCTGCTTTCCAAGGCTGCATTCTAAGTAGTGAAGCCTCAACTTCATATTTACCTAAAGCAGGACACCACACTCTTCCCCTGGCAGCCATCCGCAGGTAACCAGACCAGGACCTTTTTCGGTTCTTAGATTATTTTATTGTTTGAATTGCCACTGTCATCCCATGATGTTTTCCAGAATATACAAATTAAAACACGGAGGGACTGTTTAGGAGTGAAGGTGGACAGATTTTGGAAAACAAAGCATTCCTGTGTTTGGTGCTTTATGCTAATGGGATGCTCGTGATGGGCTGTGACAAAAGATGAGTTTTAGCGTATAGATTATGTACGCTAAGGCAAAGTCTGTATACTTTGCCTGAAAGTGATTCCCAAAACCAAATGCTGTTGGGAGATAAGTGATCAAAGGCTAGCCAGGGGACAAGGGTGTCAGGAATGTCCAGCACCCGCTGTGTTGGTCACACTGACACTGTCCTATTCACAGCCTGGAACAACTCTCTATTGTTGAAAAGATCTGTTCACGTGAAAGTTTGCAGTTTTTGTTGCAGAAGCATTTGGCAGTTTAGCTCAGGAATGAATTTCAACTTGGTAGTTTGTTAATAAAACTAGAAAATGCAAAGAGCTTCACTTACCCTTAACCTCTGATTTCCTTCCCCTAAGGGACTAGTTTTGTGGCTTTTTTGCTGGTAGGGGCTGGGATTCACATGCAGAGCGTAGGAGGAAGAATCAAATTTTGCAAACTAGTTCTAATGACAAATAATCGAGGTAGTAGGATGTATGAATCCACTTTGAAGGCGTGTAGCTATCTTTTTTTTAGTAGGGGCTCTTTTTCCATTATTTGGTTTATGCTTTAAGCTACCCTAAAACTGTTCTTCCAGAAGTCATGACTACTGTGTCCTTTTTATTTTTTATGATTATTCTCAATTGCTATTACTATTTATTTTCATCTTAAAA
|
Task1_train_16901
|
This sequence variant lies in JAM3 (junctional adhesion molecule 3) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Porencephaly-microcephaly-bilateral congenital cataract syndrome
|
TAGGCGTGAGCCACCACGCCTGGCCAGGGCTTAGCATTTTATTGTTGGTTTACATTCAGTTCCCCGAGCTCTTTTAAGAAGTGCATGTCTCCCTAGTAAGCCACACCTTAGAAATAAGCATATTCAGATGAGTAATGCTGTGATGGAGGCAGAGCCTCCTCAGCCCTGCTCACGGAATGCTTCCAGGACTTTGCTGCTGGCCTTATTGAGCTCTGATTCCCTTCTGCACAGGGTCAGAGCTCTCCAGGGAACAATGAAACCCTAAGGAAGAGCAGACCACTTCACAGCCACGTGTGTCCTACCCCACTCTGCTGCATCCCTAGTTAGACTTCCATTCCAGGAACTGTCTCAGCTGTTGGTAATGACATGCCGACTCCATCTGCAGAGGAAAATCAATGTCTTACAATGAAGCACCTGCCATCCACTCTCCTAGGAACCTCTGCCCCTTATAGAATATTCATGCAGCCCTTTTTTGTAATCTCGGTCTGAGTTTCAAAAGATTCCCTAGCAGGAAGACCATTTAACAGATAGACCATTTTACAACGCAAACACTGAAAATTCCGCAGGAGAAAAGAGGCACTGGTTTTTGAAAACCGTGCTCTGTCCACAGTCAGACACCATCTCACATTTCCAAGTAACCCAAACAGTTCCTTCAGTTAGGTAAATATGCCTGGCCATGTGACCAGGAGCTAAAGGGAATAATAGGGAAAACAGAGGGCAGAAAAAAATGTCAGTGGGCATAAGACGAATTTTCTTCTTTTTAATTTCTCGATTTTGTGCTTGATAAAGGGAAAGAGGCCACCATTATAAAACAACTTTTACACACTTTTACTTGTGATTTAGTGCATGGTGACCTGGAACATAAAGAAGATTTATGAAAGGAAAGACAGAATCATAGTAGGTAATTGAGTTATTTTTTAATTTTTATTCTGTCTTTATAAGATTTTTGAGAAGGTAATCAATTAACATAAAGATCTGAGCAGTTATAAAGATTTACAAAGAAGATTATACAGTGATGGAAACTGAAGCATATTCTTGGCAACAATCTCAATCTATTTCACGTTTCCCGGCTTTTACATATATAAATTTGGTATACATAATATGTAAATATACTTCTATTTTGCATGAAAACTAAAAATACTAAAAAAGTAGCATGAGTATATGAAAAAGTTAAACATTAAAAATATTAGTTGGAAACTGGCTTATTTTACTAACAATTATATTCAGAATTCTGTTGCTAGACTGCTGTTTCTGGGAACATTGGAGGTGTACTTTCTATACTTGCTAAAATACAAGCTTTTCAAGTATTTTCCATAGTATTAAGTGAGACTTTAAATACTCTTGCTTTTTTAGATCTAATTTCTGCTTTAATTTATCCTTCTCTTCATTTTTCCTGTTTGTCCTCATCTTACCTGTTCTTCCCTGGTTTTACTATCTCCCAGTATTCAGAAATCAGAGCAAATAATTAGTCTGCTTTTCTGCAGAATAAACTATTGGGTATGCCATCATGCTTTTGATCTACCACATAAACAAATTATTTTAGCAAGACATCACTTTTATATGCTGTATAATGTATGTATTGCTTATGTTTTAAGCAGATTTCAGCTCTTTTCCTTCCATCAATTTGGAATTGGGGGCCCAAAAGATGTGAAGGCGATAATGCTTCCAAGATAACTGGGCTGCATCCTTATTTGTAAAATAAGAAATACTTTATTTCCCAAATTTTAAAGGAGTGTTCCTTCTCCGACCTGTTGTGATGGATTTATTCTATAGCTATGGAAATATACCCTGCTTCACTCTTGTACATACTTCTTTACTCTCCTCCCGCCAAGTTCATTGAAAGAGAACCCATGTGCCGGTCCAGAGCATCGCTGCATCCGTAAGCAGCTAGACCTCAGCTTCCTCTGTCACCATGGTGCCGGCTCGGCTGGGCCCGGCGGTCGCCATGGTAACTGGGGCGGGTCGCAGGGTCCTGGCAGGCTGGGCGCATGCGCGCGGGGACTACAAGCCGCGCCGCGCTGCCGCTGGCCCCTCAGCAACCCTCGACATGGCGCTGAGGCGGCCACCGCGACTCCGGCTCTGCGCTCGGCTGCCTGACTTCTTCCTGCTGCTGCTTTTCAGGGGTGAGTTTGCGCGTTTCCGCTGTTGGGAGACTAGGGTCTGGGGGCGACGGAAGCAGAGCGGGCCGAAGCTGCTGGAGCCGGTCCGGGCGAGGATAGCGGTCCTGGCTCCGAGGGCTCCCGGGGTCCCGGGCCGGAGGGGCGGCGCGCGCCCGCGTCCCCGCAGCCAGGGCTGGGACTCGGGCCTGGCTAGGGCGGGGGCCCTGGGACGCCCGGCAGTTGGACCGGGGCGGGGAGCTAATTTGGGATGGGGGGCCCGTCCCAGGCAGTGAGTCGGTCCCGGACAGCCGTCGGACCCCGGGGGCGGGCTCTTCTCGGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCGTCCCCGGGGTGGACCCCTCCCGGGCGGTGGGCACGGCCCTCTGGAGGGAGCGCGGCAGCTGCGGCGTGGGCGCTGGAACTTGCTGGAAGACCCTGCGCAGCAGTGCTGTGCTCTCCAGAAGGGACGGTGAGCGGGGGACGTAGCTGAGGACCGGCGAGGCAGAGCTCCGAGGCCTGGCGGGCTGCTTGGTCACAGCCCTCTGGGGATCTGCAGTTCATTTGACTCGACACAAAGGAACTGCTTTTCTTTTACAGAAATAAAATGGATATCAATCCAGTACCTTTTTTGTCTCTGGCCTGGCCGAGGAGACCACGCAGACTCTTATCCGGAAATAGCATTCGGGGCATTTGATCAAGACACACTAATAAACTTGATAGTTTTGTGCATTTTCTTTCCCTCTGTTTGGAATTCTCATTAGATCCACATTTTCCTGGACAGTTGTACAGAGGACTAAAATAGCTTTCCTTTAGTGAGCTTGTACTGTCTACTAGGCACTTTGGAGCCATTATCTCGTTTACTCCTTTCAGCAGCTCTGTGAGATAGGTTTCATTAATCCATTTTCAGAGTCAAGTCTAGTCTGCTTTCCAAGGCTGCATTCTAAGTAGTGAAGCCTCAACTTCATATTTACCTAAAGCAGGACACCACACTCTTCCCCTGGCAGCCATCCGCAGGTAACCAGACCAGGACCTTTTTCGGTTCTTAGATTATTTTATTGTTTGAATTGCCACTGTCATCCCATGATGTTTTCCAGAATATACAAATTAAAACACGGAGGGACTGTTTAGGAGTGAAGGTGGACAGATTTTGGAAAACAAAGCATTCCTGTGTTTGGTGCTTTATGCTAATGGGATGCTCGTGATGGGCTGTGACAAAAGATGAGTTTTAGCGTATAGATTATGTACGCTAAGGCAAAGTCTGTATACTTTGCCTGAAAGTGATTCCCAAAACCAAATGCTGTTGGGAGATAAGTGATCAAAGGCTAGCCAGGGGACAAGGGTGTCAGGAATGTCCAGCACCCGCTGTGTTGGTCACACTGACACTGTCCTATTCACAGCCTGGAACAACTCTCTATTGTTGAAAAGATCTGTTCACGTGAAAGTTTGCAGTTTTTGTTGCAGAAGCATTTGGCAGTTTAGCTCAGGAATGAATTTCAACTTGGTAGTTTGTTAATAAAACTAGAAAATGCAAAGAGCTTCACTTACCCTTAACCTCTGATTTCCTTCCCCTAAGGGACTAGTTTTGTGGCTTTTTTGCTGGTAGGGGCTGGGATTCACATGCAGAGCGTAGGAGGAAGAATCAAATTTTGCAAACTAGTTCTAATGACAAATAATCGAGGTAGTAGGATGTATGAATCCACTTTGAAGGCGTGTAGCTATCTTTTTTTTAGTAGGGGCTCTTTTTCCATTATTTGGTTTATGCTTTAAGCTACCCTAAAACTGTTCTTCCAGAAGTCATGACTACTGTGTCCTTTTTATTTTTTATGATTATTCTCAATTGCTATTACTATTTATTTTCATCTTAAAAA
|
TAGGCGTGAGCCACCACGCCTGGCCAGGGCTTAGCATTTTATTGTTGGTTTACATTCAGTTCCCCGAGCTCTTTTAAGAAGTGCATGTCTCCCTAGTAAGCCACACCTTAGAAATAAGCATATTCAGATGAGTAATGCTGTGATGGAGGCAGAGCCTCCTCAGCCCTGCTCACGGAATGCTTCCAGGACTTTGCTGCTGGCCTTATTGAGCTCTGATTCCCTTCTGCACAGGGTCAGAGCTCTCCAGGGAACAATGAAACCCTAAGGAAGAGCAGACCACTTCACAGCCACGTGTGTCCTACCCCACTCTGCTGCATCCCTAGTTAGACTTCCATTCCAGGAACTGTCTCAGCTGTTGGTAATGACATGCCGACTCCATCTGCAGAGGAAAATCAATGTCTTACAATGAAGCACCTGCCATCCACTCTCCTAGGAACCTCTGCCCCTTATAGAATATTCATGCAGCCCTTTTTTGTAATCTCGGTCTGAGTTTCAAAAGATTCCCTAGCAGGAAGACCATTTAACAGATAGACCATTTTACAACGCAAACACTGAAAATTCCGCAGGAGAAAAGAGGCACTGGTTTTTGAAAACCGTGCTCTGTCCACAGTCAGACACCATCTCACATTTCCAAGTAACCCAAACAGTTCCTTCAGTTAGGTAAATATGCCTGGCCATGTGACCAGGAGCTAAAGGGAATAATAGGGAAAACAGAGGGCAGAAAAAAATGTCAGTGGGCATAAGACGAATTTTCTTCTTTTTAATTTCTCGATTTTGTGCTTGATAAAGGGAAAGAGGCCACCATTATAAAACAACTTTTACACACTTTTACTTGTGATTTAGTGCATGGTGACCTGGAACATAAAGAAGATTTATGAAAGGAAAGACAGAATCATAGTAGGTAATTGAGTTATTTTTTAATTTTTATTCTGTCTTTATAAGATTTTTGAGAAGGTAATCAATTAACATAAAGATCTGAGCAGTTATAAAGATTTACAAAGAAGATTATACAGTGATGGAAACTGAAGCATATTCTTGGCAACAATCTCAATCTATTTCACGTTTCCCGGCTTTTACATATATAAATTTGGTATACATAATATGTAAATATACTTCTATTTTGCATGAAAACTAAAAATACTAAAAAAGTAGCATGAGTATATGAAAAAGTTAAACATTAAAAATATTAGTTGGAAACTGGCTTATTTTACTAACAATTATATTCAGAATTCTGTTGCTAGACTGCTGTTTCTGGGAACATTGGAGGTGTACTTTCTATACTTGCTAAAATACAAGCTTTTCAAGTATTTTCCATAGTATTAAGTGAGACTTTAAATACTCTTGCTTTTTTAGATCTAATTTCTGCTTTAATTTATCCTTCTCTTCATTTTTCCTGTTTGTCCTCATCTTACCTGTTCTTCCCTGGTTTTACTATCTCCCAGTATTCAGAAATCAGAGCAAATAATTAGTCTGCTTTTCTGCAGAATAAACTATTGGGTATGCCATCATGCTTTTGATCTACCACATAAACAAATTATTTTAGCAAGACATCACTTTTATATGCTGTATAATGTATGTATTGCTTATGTTTTAAGCAGATTTCAGCTCTTTTCCTTCCATCAATTTGGAATTGGGGGCCCAAAAGATGTGAAGGCGATAATGCTTCCAAGATAACTGGGCTGCATCCTTATTTGTAAAATAAGAAATACTTTATTTCCCAAATTTTAAAGGAGTGTTCCTTCTCCGACCTGTTGTGATGGATTTATTCTATAGCTATGGAAATATACCCTGCTTCACTCTTGTACATACTTCTTTACTCTCCTCCCGCCAAGTTCATTGAAAGAGAACCCATGTGCCGGTCCAGAGCATCGCTGCATCCGTAAGCAGCTAGACCTCAGCTTCCTCTGTCACCATGGTGCCGGCTCGGCTGGGCCCGGCGGTCGCCATGGTAACTGGGGCGGGTCGCAGGGTCCTGGCAGGCTGGGCGCATGCGCGCGGGGACTACAAGCCGCGCCGCGCTGCCGCTGGCCCCTCAGCAACCCTCGACAGGGCGCTGAGGCGGCCACCGCGACTCCGGCTCTGCGCTCGGCTGCCTGACTTCTTCCTGCTGCTGCTTTTCAGGGGTGAGTTTGCGCGTTTCCGCTGTTGGGAGACTAGGGTCTGGGGGCGACGGAAGCAGAGCGGGCCGAAGCTGCTGGAGCCGGTCCGGGCGAGGATAGCGGTCCTGGCTCCGAGGGCTCCCGGGGTCCCGGGCCGGAGGGGCGGCGCGCGCCCGCGTCCCCGCAGCCAGGGCTGGGACTCGGGCCTGGCTAGGGCGGGGGCCCTGGGACGCCCGGCAGTTGGACCGGGGCGGGGAGCTAATTTGGGATGGGGGGCCCGTCCCAGGCAGTGAGTCGGTCCCGGACAGCCGTCGGACCCCGGGGGCGGGCTCTTCTCGGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCGTCCCCGGGGTGGACCCCTCCCGGGCGGTGGGCACGGCCCTCTGGAGGGAGCGCGGCAGCTGCGGCGTGGGCGCTGGAACTTGCTGGAAGACCCTGCGCAGCAGTGCTGTGCTCTCCAGAAGGGACGGTGAGCGGGGGACGTAGCTGAGGACCGGCGAGGCAGAGCTCCGAGGCCTGGCGGGCTGCTTGGTCACAGCCCTCTGGGGATCTGCAGTTCATTTGACTCGACACAAAGGAACTGCTTTTCTTTTACAGAAATAAAATGGATATCAATCCAGTACCTTTTTTGTCTCTGGCCTGGCCGAGGAGACCACGCAGACTCTTATCCGGAAATAGCATTCGGGGCATTTGATCAAGACACACTAATAAACTTGATAGTTTTGTGCATTTTCTTTCCCTCTGTTTGGAATTCTCATTAGATCCACATTTTCCTGGACAGTTGTACAGAGGACTAAAATAGCTTTCCTTTAGTGAGCTTGTACTGTCTACTAGGCACTTTGGAGCCATTATCTCGTTTACTCCTTTCAGCAGCTCTGTGAGATAGGTTTCATTAATCCATTTTCAGAGTCAAGTCTAGTCTGCTTTCCAAGGCTGCATTCTAAGTAGTGAAGCCTCAACTTCATATTTACCTAAAGCAGGACACCACACTCTTCCCCTGGCAGCCATCCGCAGGTAACCAGACCAGGACCTTTTTCGGTTCTTAGATTATTTTATTGTTTGAATTGCCACTGTCATCCCATGATGTTTTCCAGAATATACAAATTAAAACACGGAGGGACTGTTTAGGAGTGAAGGTGGACAGATTTTGGAAAACAAAGCATTCCTGTGTTTGGTGCTTTATGCTAATGGGATGCTCGTGATGGGCTGTGACAAAAGATGAGTTTTAGCGTATAGATTATGTACGCTAAGGCAAAGTCTGTATACTTTGCCTGAAAGTGATTCCCAAAACCAAATGCTGTTGGGAGATAAGTGATCAAAGGCTAGCCAGGGGACAAGGGTGTCAGGAATGTCCAGCACCCGCTGTGTTGGTCACACTGACACTGTCCTATTCACAGCCTGGAACAACTCTCTATTGTTGAAAAGATCTGTTCACGTGAAAGTTTGCAGTTTTTGTTGCAGAAGCATTTGGCAGTTTAGCTCAGGAATGAATTTCAACTTGGTAGTTTGTTAATAAAACTAGAAAATGCAAAGAGCTTCACTTACCCTTAACCTCTGATTTCCTTCCCCTAAGGGACTAGTTTTGTGGCTTTTTTGCTGGTAGGGGCTGGGATTCACATGCAGAGCGTAGGAGGAAGAATCAAATTTTGCAAACTAGTTCTAATGACAAATAATCGAGGTAGTAGGATGTATGAATCCACTTTGAAGGCGTGTAGCTATCTTTTTTTTAGTAGGGGCTCTTTTTCCATTATTTGGTTTATGCTTTAAGCTACCCTAAAACTGTTCTTCCAGAAGTCATGACTACTGTGTCCTTTTTATTTTTTATGATTATTCTCAATTGCTATTACTATTTATTTTCATCTTAAAAA
|
Task1_train_16902
|
A genomic change on Chromosome 11 affects JAM3 (junctional adhesion molecule 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Porencephaly-microcephaly-bilateral congenital cataract syndrome
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TCAGTGCAGGGCTGCACCAGAGGCACCCTGGTGGGGTTTATTTACTCTTTTCTCACATGGTAAAGGTTCGAATCCTCCACTAATGGGTGGGTGTATAACAAAGCTTCCCATTCGAAAATGTTGTTGCCAACGTCTGTGCTCCATCGGAAGCATCTTTTAGTGTGCTGTTTTTAGTGTATTATGGCAAGCCCTTCATGTCCTTGTCAGCAGTTGTCAGGTTTAGCGATGAGTAGTTGCTACTCTTTTGTGTCATGTTTTCCTAACTCCTTCCCCTATTTGTTGTTTTCCAGGTTCTTCCTGCTTCTTTGAAAGTGTTATTATGTCTTATGTTTAAAATGTTTTTTTATGGAGCTGTAATTCGTACCGCATCCTTTTAAAGTGTGCAGTTCAGGGGTTTTTAATATACTCACAGTTGTGCAACCATCACCACTATCAAATTCCAGAACATTTTCATCATCCCACAGAGAAAGCCCGTACCCAGCAGTAGTCAGTCCTCCTCCCGCATCCCTGGCAGCTCTGATTCCACTTTCTGTCTCTGTGGATTTGCCTGTTCTGGACACTGGATAGAAACTGTGGTCTTCCATGGCTGACGTCTTTCACTCAGCATCCTGTTTTCAAGGTTCATCTGTGTTGTAGCCTGTGTCCGTACTTCATTTCTTTTCACGGCTGAATAATGTTCCATTGTAGATATACCACATTATTTTACCCATTCTATTGATGGACATTTGGGTTGTTTCCACTTTTTGGCTATTATCAGTAATGCTGCTATCAGTATTTGTTTACAGGTTTTTGTGTGAACCTAAGTTTTCATTTCTCTGGGATAAATGACCAAGAGTACAACTGCTGAGTCTTACAGTAGTTGCATGTTTAGTTGTTTAAAAAACCGACAGAGTGTTTTTCAAAGCTGCTTTACGATTTTACACTCCTACCAGCAGTGTATTTTCCCACATCCTTACCAACACTTGTTATTGTCTGACTTGTTAAGTTCTAGCCATCTTAGTGGGTTGGAAGCGGCGTCTTGTGGATTTGATTTGCATTTCCTGGTGACTAATGATGTTGAGGGTCTTATTTGTGTATTTTCTTTGGAGAAATGTCTGTTCAAATTTTATGTCCATTTAAAAATATTTTTTTTTCTAGAAACAGGATCTCACTGTGTTGCACAGGCTGGACATGAATTCCCAGGCTCAAATAATCCTCCCACCTCAGCCTTCTGAGTAGCTGAGACTATATGTGTGCACCACTGCACCCACCCTTATGTCCAGTTTTTAAATTAGGTTGTCTATTTCTTACTGAAGTGTGAATTCTTTATTCTGGATGCTAGGTTGGATGTACGATTTGCAGGTATTTCTCCCATTGTGTGGATTGTTTTCACCTGCCTTTGTCCTTTGAATTTTGATGAAGTCCGGTGTAACTGTTTTTAGTGTGTGCTTGTGCTTTTGGTGTCATATCTAAGAAACCATTGCCCAATCCAAGGTCATGAGGGATTTATGCTTATGCATTTTTCTAAGAGTTTTATAGTTTTAACTCCTATGTTAGGTCTTTGTTGTATATGGAGTGAGAGAGAGGTTCAACTTCATGTGTTTGCAAGTGGATATCAAGTTATCTCAGCATCATTTATGAAACATTGGTTGTTTTTCTAGTGGTGTTTTTTTCTATTCATGGGCGGTCCTTCCTGGAAATGAGGAGGAGGAGGTGAAGTTCCTGGTTTTAATGACGGAGACACATGGTAATGAGTGTGTCTTGCACACCAGGAACTATTTTTGGTGTTTAGGTTACAGATAGGAATAGGTCATGGTTCCTGTCCTCAAGAGAGTTCACTTCTGTACTCGGGAATAGAAATAAATATTGATCTGCAGGCTTCCTTGCTGTGGCATCTAGTGCTAGCCCCAGAAACCACCCTCTTCAAGTGGCAAAGATTTCTTTAAAGAAGTTTTTTAGTGCCTCGTGTCTTTTCTGTAGGAGACTTGGCGGGTCGTGCAGAAATACTGGGGAAGACATCCCTGAAGATCTGGAATGTGACACGGAGAGACTCAGCCCTTTATCGCTGTGAGGTCGTTGCTCGAAATGACCGCAAGGAAATTGATGAGATTGTGATCGAGTTAACTGTGCAAGGTAGGAGCTCATGCGAAGGTGAGACATTGCCACCATAGGATGCAAGAGATCAGTTAGTGTCTTGGTTTCTTTCCTTCTAGAACTGTATCCCTGAGGGCTTCACATGGCTTAGGGAGGGGAGAACTGTTGAGAGCTGAGACTGCCTGAGTTGGGGTAGAAGGTGAGAAGGGAAGTGAAGTTCCTGTCACTTCCTTCCACCAGCTAGAGGAGGCGCTTTAACATATGGGAGGGCAGGATGCAGCGGTGGCTTGTCAGTCTGCAGTTGTGATCCTGGGAACAGCAGTGGCGTGGGAACCCCTCGACTGGCTGTCTTGTCTTTGGAGCTGATTTCTTCTGGGCTTTAATAAGAATAGAGCCCTGTCACTGAGATCTTAAACACCACCCCTTTTTCCCCACAGTGAAGCCAGTGACCCCTGTCTGTAGAGTGCCGAAGGCTGTACCAGTAGGCAAGATGGCAACACTGCACTGCCAGGAGAGTGAGGGCCACCCCCGGCCTCACTACAGCTGGTATCGCAATGATGTACCACTGCCCACGGATTCCAGAGCCAATCCCAGATTTCGCAATTCTTCTTTCCACTTAAACTCTGAAACAGGCACTTTGGTAAGATCTCTTCTAAGAGGTGAGGATGGAGATGTCTTTGTTGGGGCAAGAGATGCTTATTGTGAAAAGAAGATTAGGAGAGATACTGAAACTTCTTGATAAGACAGGAGTCAAAAATCTAGAATGTTAGGGATTCTACAGGAAAAATGACCCTTCTTCCTTTTATAAACAAGTACATTCTTAGGGGGTAAAATAAGGAAGAGAAAGAAACCATAGATTGAGACCGAAGAGGGATATTAAGCAAATGTTACTAGGGCCCTGATCGGATAATCAACTGTAAAAGTCATTAGACAATCGGGGAAATTGGATTACTAGGTGGTATTTGATGATCTATTAAGCAACTGTTCATTGCTTTAGGCATGATGAAGGTATTGTGGTTACGATTTTTTACAGTCTTGTAGAGATACTGAAGTATTTATGGATAAAAGGTGTTTGGAATTTGTTTCAAAATAACCCAGTGGTGGTGGTGGGAGGTGGGGGAGGAGAGGAAACAGATTGGTCATGCACTAGAGGACAAAGTGACCTGGCCAGCAAACCACACCAGGCTTTTACTGCATGTGGTTCTCTCCTGGGAGGTACCTTCTGATCTGTGGACCATCCAGTTCCACGTAGTCATCAGACAGATTTTAACAGGGTCCTCTGTGTTCATTTTGCCAAAATGTTGCCCCAGGAGCAGTCATCATTGAAGAGCCCTTTTACCAGAATAAAAGCAAGGTTCCACCTCCCATTTCGGATGTTGCCAGGCTTTGGTGTCTCCAGTCCCAAGGGGATTGGTTGTTGGGGAGCTGTCAGGCAGGTATCAGGGAGTGGGTCAGGGAGGAACATGCACAGTGCTGGGGAAGCTGAAAGCAAGCGAGCAGGTGTCGACCTAGTTCTGGACCCAGCTGGCTGTGCTCTCAGAAATCGGCCCCATGATGGGTCCGATTATTTACTTGTCATTCCCTGAAACAGGTGTTCACTGCTGTTCACAAGGACGACTCTGGGCAGTACTACTGCATTGCTTCCAATGACGCAGGCTCAGCCAGGTGTGAGGAGCAGGAGATGGAAGTCTGTGAGTTTCTTTTTTGAAGAGGTTTCATCGCAAGACTGGGAAGTGAATAGAACATTTTAATTTAATATTATACCATCAGCTTAGAGAACTCTTCCGCCATGGGTTAGCTTTCTTCTGGAGCTGCCTAGGTCCACCAGAACCCACTGCACAGTGAAGGGAAGGCTGAGAAAACCGAGTCCAGATAAGCAGGTCCTCAAAACAAAACCTTCTGGGATCTGCTGGTGTTGGGAACGTGGCCAGCCTTGCAACTTTCACTGCAAGTTTAGTAAACTCCATTCTTTGGTAATTGATAGAATTATCAAAATGTAAGGTGGTGTCAGGTCTCCAGAAAT
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TCAGTGCAGGGCTGCACCAGAGGCACCCTGGTGGGGTTTATTTACTCTTTTCTCACATGGTAAAGGTTCGAATCCTCCACTAATGGGTGGGTGTATAACAAAGCTTCCCATTCGAAAATGTTGTTGCCAACGTCTGTGCTCCATCGGAAGCATCTTTTAGTGTGCTGTTTTTAGTGTATTATGGCAAGCCCTTCATGTCCTTGTCAGCAGTTGTCAGGTTTAGCGATGAGTAGTTGCTACTCTTTTGTGTCATGTTTTCCTAACTCCTTCCCCTATTTGTTGTTTTCCAGGTTCTTCCTGCTTCTTTGAAAGTGTTATTATGTCTTATGTTTAAAATGTTTTTTTATGGAGCTGTAATTCGTACCGCATCCTTTTAAAGTGTGCAGTTCAGGGGTTTTTAATATACTCACAGTTGTGCAACCATCACCACTATCAAATTCCAGAACATTTTCATCATCCCACAGAGAAAGCCCGTACCCAGCAGTAGTCAGTCCTCCTCCCGCATCCCTGGCAGCTCTGATTCCACTTTCTGTCTCTGTGGATTTGCCTGTTCTGGACACTGGATAGAAACTGTGGTCTTCCATGGCTGACGTCTTTCACTCAGCATCCTGTTTTCAAGGTTCATCTGTGTTGTAGCCTGTGTCCGTACTTCATTTCTTTTCACGGCTGAATAATGTTCCATTGTAGATATACCACATTATTTTACCCATTCTATTGATGGACATTTGGGTTGTTTCCACTTTTTGGCTATTATCAGTAATGCTGCTATCAGTATTTGTTTACAGGTTTTTGTGTGAACCTAAGTTTTCATTTCTCTGGGATAAATGACCAAGAGTACAACTGCTGAGTCTTACAGTAGTTGCATGTTTAGTTGTTTAAAAAACCGACAGAGTGTTTTTCAAAGCTGCTTTACGATTTTACACTCCTACCAGCAGTGTATTTTCCCACATCCTTACCAACACTTGTTATTGTCTGACTTGTTAAGTTCTAGCCATCTTAGTGGGTTGGAAGCGGCGTCTTGTGGATTTGATTTGCATTTCCTGGTGACTAATGATGTTGAGGGTCTTATTTGTGTATTTTCTTTGGAGAAATGTCTGTTCAAATTTTATGTCCATTTAAAAATATTTTTTTTTCTAGAAACAGGATCTCACTGTGTTGCACAGGCTGGACATGAATTCCCAGGCTCAAATAATCCTCCCACCTCAGCCTTCTGAGTAGCTGAGACTATATGTGTGCACCACTGCACCCACCCTTATGTCCAGTTTTTAAATTAGGTTGTCTATTTCTTACTGAAGTGTGAATTCTTTATTCTGGATGCTAGGTTGGATGTACGATTTGCAGGTATTTCTCCCATTGTGTGGATTGTTTTCACCTGCCTTTGTCCTTTGAATTTTGATGAAGTCCGGTGTAACTGTTTTTAGTGTGTGCTTGTGCTTTTGGTGTCATATCTAAGAAACCATTGCCCAATCCAAGGTCATGAGGGATTTATGCTTATGCATTTTTCTAAGAGTTTTATAGTTTTAACTCCTATGTTAGGTCTTTGTTGTATATGGAGTGAGAGAGAGGTTCAACTTCATGTGTTTGCAAGTGGATATCAAGTTATCTCAGCATCATTTATGAAACATTGGTTGTTTTTCTAGTGGTGTTTTTTTCTATTCATGGGCGGTCCTTCCTGGAAATGAGGAGGAGGAGGTGAAGTTCCTGGTTTTAATGACGGAGACACATGGTAATGAGTGTGTCTTGCACACCAGGAACTATTTTTGGTGTTTAGGTTACAGATAGGAATAGGTCATGGTTCCTGTCCTCAAGAGAGTTCACTTCTGTACTCGGGAATAGAAATAAATATTGATCTGCAGGCTTCCTTGCTGTGGCATCTAGTGCTAGCCCCAGAAACCACCCTCTTCAAGTGGCAAAGATTTCTTTAAAGAAGTTTTTTAGTGCCTCGTGTCTTTTCTGTAGGAGACTTGGCGGGTCGTGCAGAAATACTGGGGAAGACATCCCTGAAGATCTGGAATGTGACACGGAGAGACTCAGCCCTTTATCGCTGTAAGGTCGTTGCTCGAAATGACCGCAAGGAAATTGATGAGATTGTGATCGAGTTAACTGTGCAAGGTAGGAGCTCATGCGAAGGTGAGACATTGCCACCATAGGATGCAAGAGATCAGTTAGTGTCTTGGTTTCTTTCCTTCTAGAACTGTATCCCTGAGGGCTTCACATGGCTTAGGGAGGGGAGAACTGTTGAGAGCTGAGACTGCCTGAGTTGGGGTAGAAGGTGAGAAGGGAAGTGAAGTTCCTGTCACTTCCTTCCACCAGCTAGAGGAGGCGCTTTAACATATGGGAGGGCAGGATGCAGCGGTGGCTTGTCAGTCTGCAGTTGTGATCCTGGGAACAGCAGTGGCGTGGGAACCCCTCGACTGGCTGTCTTGTCTTTGGAGCTGATTTCTTCTGGGCTTTAATAAGAATAGAGCCCTGTCACTGAGATCTTAAACACCACCCCTTTTTCCCCACAGTGAAGCCAGTGACCCCTGTCTGTAGAGTGCCGAAGGCTGTACCAGTAGGCAAGATGGCAACACTGCACTGCCAGGAGAGTGAGGGCCACCCCCGGCCTCACTACAGCTGGTATCGCAATGATGTACCACTGCCCACGGATTCCAGAGCCAATCCCAGATTTCGCAATTCTTCTTTCCACTTAAACTCTGAAACAGGCACTTTGGTAAGATCTCTTCTAAGAGGTGAGGATGGAGATGTCTTTGTTGGGGCAAGAGATGCTTATTGTGAAAAGAAGATTAGGAGAGATACTGAAACTTCTTGATAAGACAGGAGTCAAAAATCTAGAATGTTAGGGATTCTACAGGAAAAATGACCCTTCTTCCTTTTATAAACAAGTACATTCTTAGGGGGTAAAATAAGGAAGAGAAAGAAACCATAGATTGAGACCGAAGAGGGATATTAAGCAAATGTTACTAGGGCCCTGATCGGATAATCAACTGTAAAAGTCATTAGACAATCGGGGAAATTGGATTACTAGGTGGTATTTGATGATCTATTAAGCAACTGTTCATTGCTTTAGGCATGATGAAGGTATTGTGGTTACGATTTTTTACAGTCTTGTAGAGATACTGAAGTATTTATGGATAAAAGGTGTTTGGAATTTGTTTCAAAATAACCCAGTGGTGGTGGTGGGAGGTGGGGGAGGAGAGGAAACAGATTGGTCATGCACTAGAGGACAAAGTGACCTGGCCAGCAAACCACACCAGGCTTTTACTGCATGTGGTTCTCTCCTGGGAGGTACCTTCTGATCTGTGGACCATCCAGTTCCACGTAGTCATCAGACAGATTTTAACAGGGTCCTCTGTGTTCATTTTGCCAAAATGTTGCCCCAGGAGCAGTCATCATTGAAGAGCCCTTTTACCAGAATAAAAGCAAGGTTCCACCTCCCATTTCGGATGTTGCCAGGCTTTGGTGTCTCCAGTCCCAAGGGGATTGGTTGTTGGGGAGCTGTCAGGCAGGTATCAGGGAGTGGGTCAGGGAGGAACATGCACAGTGCTGGGGAAGCTGAAAGCAAGCGAGCAGGTGTCGACCTAGTTCTGGACCCAGCTGGCTGTGCTCTCAGAAATCGGCCCCATGATGGGTCCGATTATTTACTTGTCATTCCCTGAAACAGGTGTTCACTGCTGTTCACAAGGACGACTCTGGGCAGTACTACTGCATTGCTTCCAATGACGCAGGCTCAGCCAGGTGTGAGGAGCAGGAGATGGAAGTCTGTGAGTTTCTTTTTTGAAGAGGTTTCATCGCAAGACTGGGAAGTGAATAGAACATTTTAATTTAATATTATACCATCAGCTTAGAGAACTCTTCCGCCATGGGTTAGCTTTCTTCTGGAGCTGCCTAGGTCCACCAGAACCCACTGCACAGTGAAGGGAAGGCTGAGAAAACCGAGTCCAGATAAGCAGGTCCTCAAAACAAAACCTTCTGGGATCTGCTGGTGTTGGGAACGTGGCCAGCCTTGCAACTTTCACTGCAAGTTTAGTAAACTCCATTCTTTGGTAATTGATAGAATTATCAAAATGTAAGGTGGTGTCAGGTCTCCAGAAAT
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Task1_train_16903
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This mutation is located in gene JAM3 (junctional adhesion molecule 3) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Porencephaly-microcephaly-bilateral congenital cataract syndrome
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TGGGCGGTCCTTCCTGGAAATGAGGAGGAGGAGGTGAAGTTCCTGGTTTTAATGACGGAGACACATGGTAATGAGTGTGTCTTGCACACCAGGAACTATTTTTGGTGTTTAGGTTACAGATAGGAATAGGTCATGGTTCCTGTCCTCAAGAGAGTTCACTTCTGTACTCGGGAATAGAAATAAATATTGATCTGCAGGCTTCCTTGCTGTGGCATCTAGTGCTAGCCCCAGAAACCACCCTCTTCAAGTGGCAAAGATTTCTTTAAAGAAGTTTTTTAGTGCCTCGTGTCTTTTCTGTAGGAGACTTGGCGGGTCGTGCAGAAATACTGGGGAAGACATCCCTGAAGATCTGGAATGTGACACGGAGAGACTCAGCCCTTTATCGCTGTGAGGTCGTTGCTCGAAATGACCGCAAGGAAATTGATGAGATTGTGATCGAGTTAACTGTGCAAGGTAGGAGCTCATGCGAAGGTGAGACATTGCCACCATAGGATGCAAGAGATCAGTTAGTGTCTTGGTTTCTTTCCTTCTAGAACTGTATCCCTGAGGGCTTCACATGGCTTAGGGAGGGGAGAACTGTTGAGAGCTGAGACTGCCTGAGTTGGGGTAGAAGGTGAGAAGGGAAGTGAAGTTCCTGTCACTTCCTTCCACCAGCTAGAGGAGGCGCTTTAACATATGGGAGGGCAGGATGCAGCGGTGGCTTGTCAGTCTGCAGTTGTGATCCTGGGAACAGCAGTGGCGTGGGAACCCCTCGACTGGCTGTCTTGTCTTTGGAGCTGATTTCTTCTGGGCTTTAATAAGAATAGAGCCCTGTCACTGAGATCTTAAACACCACCCCTTTTTCCCCACAGTGAAGCCAGTGACCCCTGTCTGTAGAGTGCCGAAGGCTGTACCAGTAGGCAAGATGGCAACACTGCACTGCCAGGAGAGTGAGGGCCACCCCCGGCCTCACTACAGCTGGTATCGCAATGATGTACCACTGCCCACGGATTCCAGAGCCAATCCCAGATTTCGCAATTCTTCTTTCCACTTAAACTCTGAAACAGGCACTTTGGTAAGATCTCTTCTAAGAGGTGAGGATGGAGATGTCTTTGTTGGGGCAAGAGATGCTTATTGTGAAAAGAAGATTAGGAGAGATACTGAAACTTCTTGATAAGACAGGAGTCAAAAATCTAGAATGTTAGGGATTCTACAGGAAAAATGACCCTTCTTCCTTTTATAAACAAGTACATTCTTAGGGGGTAAAATAAGGAAGAGAAAGAAACCATAGATTGAGACCGAAGAGGGATATTAAGCAAATGTTACTAGGGCCCTGATCGGATAATCAACTGTAAAAGTCATTAGACAATCGGGGAAATTGGATTACTAGGTGGTATTTGATGATCTATTAAGCAACTGTTCATTGCTTTAGGCATGATGAAGGTATTGTGGTTACGATTTTTTACAGTCTTGTAGAGATACTGAAGTATTTATGGATAAAAGGTGTTTGGAATTTGTTTCAAAATAACCCAGTGGTGGTGGTGGGAGGTGGGGGAGGAGAGGAAACAGATTGGTCATGCACTAGAGGACAAAGTGACCTGGCCAGCAAACCACACCAGGCTTTTACTGCATGTGGTTCTCTCCTGGGAGGTACCTTCTGATCTGTGGACCATCCAGTTCCACGTAGTCATCAGACAGATTTTAACAGGGTCCTCTGTGTTCATTTTGCCAAAATGTTGCCCCAGGAGCAGTCATCATTGAAGAGCCCTTTTACCAGAATAAAAGCAAGGTTCCACCTCCCATTTCGGATGTTGCCAGGCTTTGGTGTCTCCAGTCCCAAGGGGATTGGTTGTTGGGGAGCTGTCAGGCAGGTATCAGGGAGTGGGTCAGGGAGGAACATGCACAGTGCTGGGGAAGCTGAAAGCAAGCGAGCAGGTGTCGACCTAGTTCTGGACCCAGCTGGCTGTGCTCTCAGAAATCGGCCCCATGATGGGTCCGATTATTTACTTGTCATTCCCTGAAACAGGTGTTCACTGCTGTTCACAAGGACGACTCTGGGCAGTACTACTGCATTGCTTCCAATGACGCAGGCTCAGCCAGGTGTGAGGAGCAGGAGATGGAAGTCTGTGAGTTTCTTTTTTGAAGAGGTTTCATCGCAAGACTGGGAAGTGAATAGAACATTTTAATTTAATATTATACCATCAGCTTAGAGAACTCTTCCGCCATGGGTTAGCTTTCTTCTGGAGCTGCCTAGGTCCACCAGAACCCACTGCACAGTGAAGGGAAGGCTGAGAAAACCGAGTCCAGATAAGCAGGTCCTCAAAACAAAACCTTCTGGGATCTGCTGGTGTTGGGAACGTGGCCAGCCTTGCAACTTTCACTGCAAGTTTAGTAAACTCCATTCTTTGGTAATTGATAGAATTATCAAAATGTAAGGTGGTGTCAGGTCTCCAGAAATTTATCCAGTTATAACCCTCTTGTAGAAAACTGACAGTTTTAGCCCGAGTAATTTTACCTGCAGACAAAGCTTAGCCCCTAGAGTAATGTTATCTCAGGGCTCTGGTTCCCCTAATGGAGGGGCGTTGAGAGGAGGGTGGGGGCAGAGAGGATGTGTCCAAATCACTTGGGGAGCTTTTTTTTTTCTTAAAAAACAAAAAACAAAAAACACCACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGAGTGCAGTCACAGGTCACTGCATCCTCAAACCCAGCCTTCAAGCCATTCTCCCACCTCAGTCTCCTGAGTAGCTGGAACAACAGGCACACACCACCATGCTCAGCTAATTTTATTTTTTGTAGATACGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTCGGCCTCCCCCAGGTGCTGGGATTAACAGGCATGAGCCACTGTGCCCAGCCAGGAGCATTTTTTGAATCCTTCCCTCCTCCCTATTTGGAGCTCTCCTCAGAGCAGCATTTTCCAAAACTGCCTGGTGATACCCATTTGGGACCACTGTTTCACATACAGATTCGAGCCCACCTCAGACATATGCTAGAAATGTCTGTGTGTGAGACAAGCGTTCCGAAGGATTCTTCTCATGTGTCACGTTTGAGAAACTCTGCTCTAGGGTTGTTTTCTCCTGCAGTTTTGCCCCAGACCTACTTTAGCCTATTGACTTTTTAGTGATGAAACTTGGGAATTGACATTTTAACATCAAAATTGCATGCCAGGCGTGGTGGCTCACACTATAATCCTAGCACTCTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCCAAAACTCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCAGGCGCCTGTAGTCCCAGTAACTTGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCACAGAACTCCAGCCTGGGTGACGGTGACGGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACGATTGCAAGTTTACTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCAACACGCTCAGCCAATTTTTTGTGTTTCTAGTAGAGACGGGGTTTCACCACCTTAGCCAGGATGGTCTCGAATCTCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCAAGTTGATTTTTAAGTGTACATTCATCTTTGAGAACCAATACACTAGGATAAAGGAGATTTTTTTAAAACTTCCAAGTTACTTGGCTCTTGTTGATAAATTCCCTGCATAGTTTTCCATGTGTCGCTTGCTTGAAGGAACGGCTGCCAGAGCCCCATATGAAAGTGACCCAGTGCCTTTGCCCAGTGTATAGACATGAGAAAAGGGTTCCAGGGGGTTTCCTCTCAGAGGGCTTATAGATCGGAGGTC
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TGGGCGGTCCTTCCTGGAAATGAGGAGGAGGAGGTGAAGTTCCTGGTTTTAATGACGGAGACACATGGTAATGAGTGTGTCTTGCACACCAGGAACTATTTTTGGTGTTTAGGTTACAGATAGGAATAGGTCATGGTTCCTGTCCTCAAGAGAGTTCACTTCTGTACTCGGGAATAGAAATAAATATTGATCTGCAGGCTTCCTTGCTGTGGCATCTAGTGCTAGCCCCAGAAACCACCCTCTTCAAGTGGCAAAGATTTCTTTAAAGAAGTTTTTTAGTGCCTCGTGTCTTTTCTGTAGGAGACTTGGCGGGTCGTGCAGAAATACTGGGGAAGACATCCCTGAAGATCTGGAATGTGACACGGAGAGACTCAGCCCTTTATCGCTGTGAGGTCGTTGCTCGAAATGACCGCAAGGAAATTGATGAGATTGTGATCGAGTTAACTGTGCAAGGTAGGAGCTCATGCGAAGGTGAGACATTGCCACCATAGGATGCAAGAGATCAGTTAGTGTCTTGGTTTCTTTCCTTCTAGAACTGTATCCCTGAGGGCTTCACATGGCTTAGGGAGGGGAGAACTGTTGAGAGCTGAGACTGCCTGAGTTGGGGTAGAAGGTGAGAAGGGAAGTGAAGTTCCTGTCACTTCCTTCCACCAGCTAGAGGAGGCGCTTTAACATATGGGAGGGCAGGATGCAGCGGTGGCTTGTCAGTCTGCAGTTGTGATCCTGGGAACAGCAGTGGCGTGGGAACCCCTCGACTGGCTGTCTTGTCTTTGGAGCTGATTTCTTCTGGGCTTTAATAAGAATAGAGCCCTGTCACTGAGATCTTAAACACCACCCCTTTTTCCCCACAGTGAAGCCAGTGACCCCTGTCTGTAGAGTGCCGAAGGCTGTACCAGTAGGCAAGATGGCAACACTGCACTGCCAGGAGAGTGAGGGCCACCCCCGGCCTCACTACAGCTGGTATCGCAATGATGTACCACTGCCCACGGATTCCAGAGCCAATCCCAGATTTCGCAATTCTTCTTTCCACTTAAACTCTGAAACAGGCACTTTGGTAAGATCTCTTCTAAGAGGTGAGGATGGAGATGTCTTTGTTGGGGCAAGAGATGCTTATTGTGAAAAGAAGATTAGGAGAGATACTGAAACTTCTTGATAAGACAGGAGTCAAAAATCTAGAATGTTAGGGATTCTACAGGAAAAATGACCCTTCTTCCTTTTATAAACAAGTACATTCTTAGGGGGTAAAATAAGGAAGAGAAAGAAACCATAGATTGAGACCGAAGAGGGATATTAAGCAAATGTTACTAGGGCCCTGATCGGATAATCAACTGTAAAAGTCATTAGACAATCGGGGAAATTGGATTACTAGGTGGTATTTGATGATCTATTAAGCAACTGTTCATTGCTTTAGGCATGATGAAGGTATTGTGGTTACGATTTTTTACAGTCTTGTAGAGATACTGAAGTATTTATGGATAAAAGGTGTTTGGAATTTGTTTCAAAATAACCCAGTGGTGGTGGTGGGAGGTGGGGGAGGAGAGGAAACAGATTGGTCATGCACTAGAGGACAAAGTGACCTGGCCAGCAAACCACACCAGGCTTTTACTGCATGTGGTTCTCTCCTGGGAGGTACCTTCTGATCTGTGGACCATCCAGTTCCACGTAGTCATCAGACAGATTTTAACAGGGTCCTCTGTGTTCATTTTGCCAAAATGTTGCCCCAGGAGCAGTCATCATTGAAGAGCCCTTTTACCAGAATAAAAGCAAGGTTCCACCTCCCATTTCGGATGTTGCCAGGCTTTGGTGTCTCCAGTCCCAAGGGGATTGGTTGTTGGGGAGCTGTCAGGCAGGTATCAGGGAGTGGGTCAGGGAGGAACATGCACAGTGCTGGGGAAGCTGAAAGCAAGCGAGCAGGTGTCGACCTAGTTCTGGACCCAGCTGGCTGTGCTCTCAGAAATCGGCCCCATGATGGGTCCGATTATTTACTTGTCATTCCCTGAAACAGGTGTTCACTGCTGTTCACAAGGACGACTCTGGGCAGTACTACTACATTGCTTCCAATGACGCAGGCTCAGCCAGGTGTGAGGAGCAGGAGATGGAAGTCTGTGAGTTTCTTTTTTGAAGAGGTTTCATCGCAAGACTGGGAAGTGAATAGAACATTTTAATTTAATATTATACCATCAGCTTAGAGAACTCTTCCGCCATGGGTTAGCTTTCTTCTGGAGCTGCCTAGGTCCACCAGAACCCACTGCACAGTGAAGGGAAGGCTGAGAAAACCGAGTCCAGATAAGCAGGTCCTCAAAACAAAACCTTCTGGGATCTGCTGGTGTTGGGAACGTGGCCAGCCTTGCAACTTTCACTGCAAGTTTAGTAAACTCCATTCTTTGGTAATTGATAGAATTATCAAAATGTAAGGTGGTGTCAGGTCTCCAGAAATTTATCCAGTTATAACCCTCTTGTAGAAAACTGACAGTTTTAGCCCGAGTAATTTTACCTGCAGACAAAGCTTAGCCCCTAGAGTAATGTTATCTCAGGGCTCTGGTTCCCCTAATGGAGGGGCGTTGAGAGGAGGGTGGGGGCAGAGAGGATGTGTCCAAATCACTTGGGGAGCTTTTTTTTTTCTTAAAAAACAAAAAACAAAAAACACCACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGAGTGCAGTCACAGGTCACTGCATCCTCAAACCCAGCCTTCAAGCCATTCTCCCACCTCAGTCTCCTGAGTAGCTGGAACAACAGGCACACACCACCATGCTCAGCTAATTTTATTTTTTGTAGATACGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTCGGCCTCCCCCAGGTGCTGGGATTAACAGGCATGAGCCACTGTGCCCAGCCAGGAGCATTTTTTGAATCCTTCCCTCCTCCCTATTTGGAGCTCTCCTCAGAGCAGCATTTTCCAAAACTGCCTGGTGATACCCATTTGGGACCACTGTTTCACATACAGATTCGAGCCCACCTCAGACATATGCTAGAAATGTCTGTGTGTGAGACAAGCGTTCCGAAGGATTCTTCTCATGTGTCACGTTTGAGAAACTCTGCTCTAGGGTTGTTTTCTCCTGCAGTTTTGCCCCAGACCTACTTTAGCCTATTGACTTTTTAGTGATGAAACTTGGGAATTGACATTTTAACATCAAAATTGCATGCCAGGCGTGGTGGCTCACACTATAATCCTAGCACTCTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCCAAAACTCTGTGTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCAGGCGCCTGTAGTCCCAGTAACTTGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCACAGAACTCCAGCCTGGGTGACGGTGACGGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACGATTGCAAGTTTACTTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCAACACGCTCAGCCAATTTTTTGTGTTTCTAGTAGAGACGGGGTTTCACCACCTTAGCCAGGATGGTCTCGAATCTCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCAAGTTGATTTTTAAGTGTACATTCATCTTTGAGAACCAATACACTAGGATAAAGGAGATTTTTTTAAAACTTCCAAGTTACTTGGCTCTTGTTGATAAATTCCCTGCATAGTTTTCCATGTGTCGCTTGCTTGAAGGAACGGCTGCCAGAGCCCCATATGAAAGTGACCCAGTGCCTTTGCCCAGTGTATAGACATGAGAAAAGGGTTCCAGGGGGTTTCCTCTCAGAGGGCTTATAGATCGGAGGTC
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Task1_train_16904
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A variant has been detected on Chromosome 11 in NCAPD3 (non-SMC condensin II complex subunit D3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Microcephaly 22, primary, autosomal recessive
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AGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAGAGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAGAGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTGAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGAGGAGCTTAGGGGAGCTGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCATGAGAGGAGCTTAGGGGAGGCGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGGGGAGCTGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGGTGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGAGAGCAGCACACTCGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAAATGAGCCTGGGGGAGGCGCACACTCGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGAGGAGCTTAGGGGAGCTGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGAGGAGCTTAGGGGAGGCGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTCAGGGGAGCTGCACACTCACTAGTGAGATGAGCTCGGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGGTGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGTGCACACTCGTGAGATGAGCTTAGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGCAGCACACTCGTGAGATGAGCTTGGGGGAGGTGCACACTCACTTGTGAGATGAGCTTGGGGGAGGTGCACACTCGTGAGATGAGCTTAGGGGAGCAGCACACTCACTTGTGAGAAGATGATCTTAGGGGAGCAACACACTCACTTGTGAGATGAGCTTCTTCTGAGCTTCCTGCATGACTACATTTGCCAAGGCCATGTCATCTTCTTCCATAAGGAGGTCTTTGTCTGGTTTAGATCTCATTGCCAAAAGCTTGATCTCCTTTGAGCTGAGGACCTCAAACGTGTCTGAGAGTAACTCACTGGCGTCCAGGTCCAGGGGTAGGATGCCATCAGCAAAGCACGCTGAGAGACAGAGAGAGAGAAAAACGTGAGCTTCTGAGAAATGCTCTGGCCCAGAGAGGAGGTGTAATTCCCACAACTGGGGGGCCATCTGAGGCTGTCAGGGGGTCTGCAAGGGTGTTTTGTCTGGGGCACAGCTGATGCCAGAGAAGGACAAGATGACAGGGGTCTTCCTGCAGTGCCAGGGTCTCCCTTACTAGAGGCCTGCTGGGCCATTATCAACACAGCATTTCATTTGCAAACACACACATTTTCTCCCACACACACTGGGCTTACCCAAAATACTAAGGCAGATTTTGGAAGTGATGTTGAATCGCTGTTCATCTGTGAAGTGCTCTAGAAGAAATTTGTAGATTTTCATTCGTCTCTCTTTGTTTGACTTTCCCTTCAATGAAAACAGCCGCTTCTCTCTGTGGCAGAACGGGACAAGTTCACTGCATCACATGGGCACGGGTGTAAGGGATTTAACACTGCACTTTAACTGCATCCTAAAAGCTGCATGCCAAAGACTCCAGTGCACTACAGAGATCCCAGTGCTCATCACAGGCGCTGCCCTTAGGAAGCGATTCTCACGACTGTATTTTCTTACGCCATCCTGCCAAGCCACAGTAAAGACCTGGGGCAGGGTCTGCGTCCAATCACTACATGCAAAGAGCCTAACCTCCCCTGATTCCCCCAGCTCTTACCCAGATACAAGGAGACCAGACTTAGCTGCTTCACTGACCTCTCTGACTGGGGGAACTTGTTGTACTTCTCATGCTTCTCATAGTTATTAAAGTGAAAAATACATTCAATGAAGTGTTGGAAGAACATGACAGGGTTCCTCTTCAGTAACAGGTGAGCCAGGCAAAACTCCCCGAAGCTGCAAAGGTGAGAGAAACAAAGAGGGAGACCCATTTGCTATGTACCAACAGTCTCTGAATACACCAAGAACTCTGCTGAGCAGAGGAGAGCTGTACATAAGCGTAGGGATTCAAAATCTATCCCAATAAACAGTTCCCTCGGATCCAAAGAAGACAGAAATTCAGCTATTTGGTCTGTCCTTGCTCCACAGCTTCCTTTCTAATCCAAGGTAAGTATATTTTTTCCACCAGGTTTCCTTTCAAAATTGACACAAGGTGTTGTCATCCAGCTGCAGTTCAAGTGGGGAAAGTAATCGACCAACTGAACCCCAAAGCTGCTTCTGCAATCAGAGGCCAGTGGTCTTATAAGACTGATGCAATGACAACAGTCACCAGAAAAGGGATATCTGGCCTTCACCTCCCAACTTCAAGTTTGTTGCCCACAATTATGAACAAAAACCAATTTTAGTAACTGGAACTTTTTTCAAGAATAAGGATTAATGACAAGAGCTTCACAGTTTGGATCAGGAGGACAAGTTCCCTCTGCAAAGCAACTGACTCAATGCGCTTTGGAATCACCAGCAAGCCCTGGGCACTCTCCTTCCACCCATGCCCTCAACATATCTGTGCAATGCTGCACATGGGACACAGATGCCACCAGGACCCTACCAAAATGAAGATTTTCAATGCCAGATGTAAACAGGCAAACTGTTTGACTACAGGCCACCACAGAGTTTCTGTTCATCACGATAGTAGGTGACAGAGTGCCAAAGCACTGATTTTTGCTCAGGGGTCAAACTAACATGGTGCAGGACTCACTGTGATACATTCACACTGTCAAGACCAGTGTTTTAATTTAATATCAGAGCTCAAATGCAATTTCCACCCACACAGGAGCACCAGTCAGCTCTCCTTGGGAGAGGAGCAGTGTCAAAGACTGTCCAAACAGCAGACACTGGCTCTGGAGGGCATTGGGACTGTGTAGGAGACTGACTTCTCCTTTCCCCAGTGGTGCTCCTTATGCCAAAATTCAAATCAGTTTGTGTTCACAGCACACATATCAATTAAAAATCAGAGAAGGTAGATGAGAAATCATGATGGAAGTAAGCCCAGATAAAAATTCC
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AGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAGAGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAGAGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTGAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGAGGAGCTTAGGGGAGCTGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCATGAGAGGAGCTTAGGGGAGGCGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGGGGAGCTGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGGTGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGAGAGCAGCACACTCGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAAATGAGCCTGGGGGAGGCGCACACTCGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGAGGAGCTTAGGGGAGCTGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGAGGAGCTTAGGGGAGGCGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTCAGGGGAGCTGCACACTCACTAGTGAGATGAGCTCGGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGGTGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGTGCACACTCGTGAGATGAGCTTAGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGCAGCACACTCGTGAGATGAGCTTGGGGGAGGTGCACACTCACTTGTGAGATGAGCTTGGGGGAGGTGCACACTCGTGAGATGAGCTTAGGGGAGCAGCACACTCACTTGTGAGAAGATGATCTTAGGGGAGCAACACACTCACTTGTGAGATGAGCTTCTTCTGAGCTTCCTGCATGACTACATTTGCCAAGGCCATGTCATCTTCTTCCATAAGGAGGTCTTTGTCTGGTTTAGATCTCATTGCCAAAAGCTTGATCGCCTTTGAGCTGAGGACCTCAAACGTGTCTGAGAGTAACTCACTGGCGTCCAGGTCCAGGGGTAGGATGCCATCAGCAAAGCACGCTGAGAGACAGAGAGAGAGAAAAACGTGAGCTTCTGAGAAATGCTCTGGCCCAGAGAGGAGGTGTAATTCCCACAACTGGGGGGCCATCTGAGGCTGTCAGGGGGTCTGCAAGGGTGTTTTGTCTGGGGCACAGCTGATGCCAGAGAAGGACAAGATGACAGGGGTCTTCCTGCAGTGCCAGGGTCTCCCTTACTAGAGGCCTGCTGGGCCATTATCAACACAGCATTTCATTTGCAAACACACACATTTTCTCCCACACACACTGGGCTTACCCAAAATACTAAGGCAGATTTTGGAAGTGATGTTGAATCGCTGTTCATCTGTGAAGTGCTCTAGAAGAAATTTGTAGATTTTCATTCGTCTCTCTTTGTTTGACTTTCCCTTCAATGAAAACAGCCGCTTCTCTCTGTGGCAGAACGGGACAAGTTCACTGCATCACATGGGCACGGGTGTAAGGGATTTAACACTGCACTTTAACTGCATCCTAAAAGCTGCATGCCAAAGACTCCAGTGCACTACAGAGATCCCAGTGCTCATCACAGGCGCTGCCCTTAGGAAGCGATTCTCACGACTGTATTTTCTTACGCCATCCTGCCAAGCCACAGTAAAGACCTGGGGCAGGGTCTGCGTCCAATCACTACATGCAAAGAGCCTAACCTCCCCTGATTCCCCCAGCTCTTACCCAGATACAAGGAGACCAGACTTAGCTGCTTCACTGACCTCTCTGACTGGGGGAACTTGTTGTACTTCTCATGCTTCTCATAGTTATTAAAGTGAAAAATACATTCAATGAAGTGTTGGAAGAACATGACAGGGTTCCTCTTCAGTAACAGGTGAGCCAGGCAAAACTCCCCGAAGCTGCAAAGGTGAGAGAAACAAAGAGGGAGACCCATTTGCTATGTACCAACAGTCTCTGAATACACCAAGAACTCTGCTGAGCAGAGGAGAGCTGTACATAAGCGTAGGGATTCAAAATCTATCCCAATAAACAGTTCCCTCGGATCCAAAGAAGACAGAAATTCAGCTATTTGGTCTGTCCTTGCTCCACAGCTTCCTTTCTAATCCAAGGTAAGTATATTTTTTCCACCAGGTTTCCTTTCAAAATTGACACAAGGTGTTGTCATCCAGCTGCAGTTCAAGTGGGGAAAGTAATCGACCAACTGAACCCCAAAGCTGCTTCTGCAATCAGAGGCCAGTGGTCTTATAAGACTGATGCAATGACAACAGTCACCAGAAAAGGGATATCTGGCCTTCACCTCCCAACTTCAAGTTTGTTGCCCACAATTATGAACAAAAACCAATTTTAGTAACTGGAACTTTTTTCAAGAATAAGGATTAATGACAAGAGCTTCACAGTTTGGATCAGGAGGACAAGTTCCCTCTGCAAAGCAACTGACTCAATGCGCTTTGGAATCACCAGCAAGCCCTGGGCACTCTCCTTCCACCCATGCCCTCAACATATCTGTGCAATGCTGCACATGGGACACAGATGCCACCAGGACCCTACCAAAATGAAGATTTTCAATGCCAGATGTAAACAGGCAAACTGTTTGACTACAGGCCACCACAGAGTTTCTGTTCATCACGATAGTAGGTGACAGAGTGCCAAAGCACTGATTTTTGCTCAGGGGTCAAACTAACATGGTGCAGGACTCACTGTGATACATTCACACTGTCAAGACCAGTGTTTTAATTTAATATCAGAGCTCAAATGCAATTTCCACCCACACAGGAGCACCAGTCAGCTCTCCTTGGGAGAGGAGCAGTGTCAAAGACTGTCCAAACAGCAGACACTGGCTCTGGAGGGCATTGGGACTGTGTAGGAGACTGACTTCTCCTTTCCCCAGTGGTGCTCCTTATGCCAAAATTCAAATCAGTTTGTGTTCACAGCACACATATCAATTAAAAATCAGAGAAGGTAGATGAGAAATCATGATGGAAGTAAGCCCAGATAAAAATTCC
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Task1_train_16905
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Gene ACAD8 (acyl-CoA dehydrogenase family member 8) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Deficiency of isobutyryl-CoA dehydrogenase
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TCATCCTTTGTGTGAATGGATCTTATTTATTTATTTTTTTGAGATGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAACTCACCGCAACCTCTGCCCCACGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCACATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACAAGCTGGACTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCCAAAGTCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGATCATATTTATTTTTGTAACCCCAGCACTGCTACCTAGTAAACACCCAATAAACATTCTTTTGGAAATGATCTTTGAGCCATGGTCTACAGTAACAGCAACCCTTGTACAAAATTGTGTGAATAAATGGCCTGACCCCAGTCAGAGAACCATGAATTGTTTATCCCTAACTCTGTTCCTGAGGGTAATACCCAACATAGGTTTCTGCTCTGAGTTTCTCAAGGCAGCCTAATCGTTAATCCTCAGAACTCTTCATTTCTGACTTTCCCATTTTAATGAGAGTACTGATCACAGAAAGCAGTGCCCTCTCCAGGCTCGCATAGCCAGCCATTACTGATGCCCAGATTTGCCCCAAGGAACAGACTCTGGCACCTGCCCTTGTGTTCTTCTGTGAGGACTGCATCGCTTGTAGGCACTGAAGTAAATTATTGCCAAGTGTGGCGCCATAGTCTTCCCATAGTGCTCTTTTTTCTTTTTTTCTTCTTTTGAAACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCACCCTCCCAAAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTTTCCATGTTGGTCAGGCTGGTCTTGAGCTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCTGAAGTGCTGGGATTATAGGCGTGAACCATCACGCCCAGCCCATAGTGCTCTTCAGTGTCAGTTATAATGACCAAAGTTCTAGCACTGTGGCCTCAACCTCTAGGTCTACAACTGCATTTTACTAAGTGCTAGGATAAGAGATGTCTGGAAGTCCCCTATCCTGTTCTAGGTTGATCTGGATGTGTGCTAGAACTGTCCTTTCTCCATATGACAAGTGGAATAACGACAGAAGCTGCCATTCTCTAGCTGTTAAAGGCTATACCGTGTATGGGAAATACTACAGTAGATCCACTTTCACAACTTCGTGGTGCTTCTTGTTGGCAACACCTTGTTGGCAACACTGACCCTGTCCTAGAACAGTATATGCAATCCTGCCCACAGCTTCCATGGGACTTAATGAAGAGCAGAAAGAATTTCAAAAAGTGGCCTTTGACTTTGCTGCCCGAGAGATGGCTCCAAATATGGCAGAGTGGGACCAGAAGGTAGGCGTTTTTCTTGTGCTTAGACGTTCTAACAACAGATGTCTCAGGCAGACCTTTATCTTTGTCTCCTGATAATGTAATTGTTAAATGTCTCCTCCACTTACCAACTCTTACTGCAAGTGAGAATACCGGTAGTGGATGATTTTTCCTAGAAGGCATCCTGATCATCTTGTACATAACTTTTTTTTTGTTAGTTGAATAAAGATTTGGATATAAAACTAAGGCAGTTCTATAGATAATAAAAAGAAACTTCTTAATGCCAGAACAAGTTTTTACAGGACCCATGTTAACTGATAACCACTGTAAGATGACAAACAGGCATATTAAGAGAATTCATACGCTGTCGCATGTGCAAGCCTCCTAATCCCTCACTGTGCCCTCTAAAAGGAAGGCCGTCTCTGAATCAGCTGCTGATCACCCTGCTCTCTTTTGTACATAGGAGCTGTTCCCAGTGGATGTGATGCGGAAGGCAGCCCAGCTAGGCTTCGGAGGGGTCTACATACAAACAGATGTGGGCGGGTCTGGGCTGTCACGTCTTGATACCTCTGTCATTTTTGAAGCCTTGGCTACAGGCTGCACCAGCACCACAGCCTATATAAGCATCCACAAGTGAGTGCCCAAGCTTGGAAGGCACAATGAAGTGCTCACTCGGGCTGACTGTGAGAGTTCAGATTCGTAGGAAAAAGATTGATCTTTTGAAGCTGAGTGTCCTCAAGGAACTGGACTTAAAAGTACACTCTAGGGGCCGGGCGCAGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTGCTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAATAAATAAATAAAATAAGTACACGCTAGGTCTGTTGCTGCCTGTTGGACTTGATTCTGTCATCCTGTGTATTGCTTAGGGAATCAGGTCAGCCAGCTTTCTCAGAAATCTTATTTTGAGCTGGTACCAGGAGACTTCTCCAATAGAGTGATCAGGGTCCTCTCACCCTTTTATTTATTTATTTATTTTTAAGACAGAGTCTCGCTCTGTTGCCCAGGCTAGGGTGCAGTGGCATGACCTCGGCTCACTGCAACCTCCGTCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTAATTTTTTTTCATATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTTGTGTTCTGCCTGCCTCGGCCTCCCATAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCCCTCTCACCCTTTTCCTCAATCCAAAGATGGAACTGCCAGTGATTTGAGGAAGTAATAGAAACTACTAATAGAAAGCACATATAACTCTGATTTTTAGAGGCTCGTGTAACCTAACTAGAAGTAGTACAAACGTGCTGGTGAGAAGTACCTCAGCCTGGTTATCTCTGGGTAGTCCTTATTCCAGGAATATGTTTTAATCCACCGTTTGCCTTTAAAGAGTCTTCCCAATTGTGACTCTCCCCTTCCCACTCTTCTGCTTTACTCCACTGCCCTGCCCTTTGTTCTCTTTCCCCTTCTCCCCCATTTTTTTTTCTTTTCCATCTTTATTTCTGTCATTGTCTTTTCTTCTTGGTGTACCTATCAGCATGTGTGCCTGGATGATTGATAGCTTCGGAAATGAGGAACAGAGGCACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACTGCCTCACTGAACCAGGTGAATTTGCCACACTGCACTGAGATATAGCAGGGAGAGATGCTTCCTGCTCAGATGGCATTACCGAGCACTCCTTCCAGCCTCTTGACATGTCGAGCCACTGTTTATCTAGCTGTTTGGTTGAGGAGTAATAGAGTCCTGTGACCTGATGTCACAAGGACCAAGAAGCCTATCTGGTGTGTTGGGAGGTAGGCAGTGGCCTGACTGGTATGAGCAGTTTCCACCAAGTACAGAGAGTTCCTTTGGCCACTTGGGTTTTGCAGTGACACACTCTGAGCAGGGTCTGTTTAGAGAAGATTTCCTAGAAGATAGAATTGTGCTGGGCTCCCTCGACCTCACTGACTTTCTCACCTTCTCTCTGCTGCCTTTTGATCCCTCCTCAGGAAGTGGGAGTGATGCTGCCTCTCTTCTGACCTCCGCTAAGAAACAGGGAGATCATTACATCCTCAATGGCTCCAAGGTACTAGCGTGCGTCCTCCCAGAGCACTTTGGAGATTGTTCCCAGCTTCCTCCTGACATCCTCTGGTTCCTTCACATCCGCGGGTTAATACTCCCATAGGATTTTTATGTGTTGGGAAGAGAACCT
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TCATCCTTTGTGTGAATGGATCTTATTTATTTATTTTTTTGAGATGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAACTCACCGCAACCTCTGCCCCACGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCACATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACAAGCTGGACTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCCAAAGTCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGGATCATATTTATTTTTGTAACCCCAGCACTGCTACCTAGTAAACACCCAATAAACATTCTTTTGGAAATGATCTTTGAGCCATGGTCTACAGTAACAGCAACCCTTGTACAAAATTGTGTGAATAAATGGCCTGACCCCAGTCAGAGAACCATGAATTGTTTATCCCTAACTCTGTTCCTGAGGGTAATACCCAACATAGGTTTCTGCTCTGAGTTTCTCAAGGCAGCCTAATCGTTAATCCTCAGAACTCTTCATTTCTGACTTTCCCATTTTAATGAGAGTACTGATCACAGAAAGCAGTGCCCTCTCCAGGCTCGCATAGCCAGCCATTACTGATGCCCAGATTTGCCCCAAGGAACAGACTCTGGCACCTGCCCTTGTGTTCTTCTGTGAGGACTGCATCGCTTGTAGGCACTGAAGTAAATTATTGCCAAGTGTGGCGCCATAGTCTTCCCATAGTGCTCTTTTTTCTTTTTTTCTTCTTTTGAAACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCACCCTCCCAAAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTTTCCATGTTGGTCAGGCTGGTCTTGAGCTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCTGAAGTGCTGGGATTATAGGCGTGAACCATCACGCCCAGCCCATAGTGCTCTTCAGTGTCAGTTATAATGACCAAAGTTCTAGCACTGTGGCCTCAACCTCTAGGTCTACAACTGCATTTTACTAAGTGCTAGGATAAGAGATGTCTGGAAGTCCCCTATCCTGTTCTAGGTTGATCTGGATGTGTGCTAGAACTGTCCTTTCTCCATATGACAAGTGGAATAACGACAGAAGCTGCCATTCTCTAGCTGTTAAAGGCTATACCGTGTATGGGAAATACTACAGTAGATCCACTTTCACAACTTCGTGGTGCTTCTTGTTGGCAACACCTTGTTGGCAACACTGACCCTGTCCTAGAACAGTATATGCAATCCTGCCCACAGCTTCCATGGGACTTAATGAAGAGCAGAAAGAATTTCAAAAAGTGGCCTTTGACTTTGCTGCCCGAGAGATGGCTCCAAATATGGCAGAGTGGGACCAGAAGGTAGGCGTTTTTCTTGTGCTTAGACGTTCTAACAACAGATGTCTCAGGCAGACCTTTATCTTTGTCTCCTGATAATGTAATTGTTAAATGTCTCCTCCACTTACCAACTCTTACTGCAAGTGAGAATACCGGTAGTGGATGATTTTTCCTAGAAGGCATCCTGATCATCTTGTACATAACTTTTTTTTTGTTAGTTGAATAAAGATTTGGATATAAAACTAAGGCAGTTCTATAGATAATAAAAAGAAACTTCTTAATGCCAGAACAAGTTTTTACAGGACCCATGTTAACTGATAACCACTGTAAGATGACAAACAGGCATATTAAGAGAATTCATACGCTGTCGCATGTGCAAGCCTCCTAATCCCTCACTGTGCCCTCTAAAAGGAAGGCCGTCTCTGAATCAGCTGCTGATCACCCTGCTCTCTTTTGTACATAGGAGCTGTTCCCAGTGGATGTGATGCGGAAGGCAGCCCAGCTAGGCTTCGGAGGGGTCTACATACAAACAGATGTGAGCGGGTCTGGGCTGTCACGTCTTGATACCTCTGTCATTTTTGAAGCCTTGGCTACAGGCTGCACCAGCACCACAGCCTATATAAGCATCCACAAGTGAGTGCCCAAGCTTGGAAGGCACAATGAAGTGCTCACTCGGGCTGACTGTGAGAGTTCAGATTCGTAGGAAAAAGATTGATCTTTTGAAGCTGAGTGTCCTCAAGGAACTGGACTTAAAAGTACACTCTAGGGGCCGGGCGCAGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTGCTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAATAAATAAATAAAATAAGTACACGCTAGGTCTGTTGCTGCCTGTTGGACTTGATTCTGTCATCCTGTGTATTGCTTAGGGAATCAGGTCAGCCAGCTTTCTCAGAAATCTTATTTTGAGCTGGTACCAGGAGACTTCTCCAATAGAGTGATCAGGGTCCTCTCACCCTTTTATTTATTTATTTATTTTTAAGACAGAGTCTCGCTCTGTTGCCCAGGCTAGGGTGCAGTGGCATGACCTCGGCTCACTGCAACCTCCGTCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTAATTTTTTTTCATATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTTGTGTTCTGCCTGCCTCGGCCTCCCATAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCCCTCTCACCCTTTTCCTCAATCCAAAGATGGAACTGCCAGTGATTTGAGGAAGTAATAGAAACTACTAATAGAAAGCACATATAACTCTGATTTTTAGAGGCTCGTGTAACCTAACTAGAAGTAGTACAAACGTGCTGGTGAGAAGTACCTCAGCCTGGTTATCTCTGGGTAGTCCTTATTCCAGGAATATGTTTTAATCCACCGTTTGCCTTTAAAGAGTCTTCCCAATTGTGACTCTCCCCTTCCCACTCTTCTGCTTTACTCCACTGCCCTGCCCTTTGTTCTCTTTCCCCTTCTCCCCCATTTTTTTTTCTTTTCCATCTTTATTTCTGTCATTGTCTTTTCTTCTTGGTGTACCTATCAGCATGTGTGCCTGGATGATTGATAGCTTCGGAAATGAGGAACAGAGGCACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACTGCCTCACTGAACCAGGTGAATTTGCCACACTGCACTGAGATATAGCAGGGAGAGATGCTTCCTGCTCAGATGGCATTACCGAGCACTCCTTCCAGCCTCTTGACATGTCGAGCCACTGTTTATCTAGCTGTTTGGTTGAGGAGTAATAGAGTCCTGTGACCTGATGTCACAAGGACCAAGAAGCCTATCTGGTGTGTTGGGAGGTAGGCAGTGGCCTGACTGGTATGAGCAGTTTCCACCAAGTACAGAGAGTTCCTTTGGCCACTTGGGTTTTGCAGTGACACACTCTGAGCAGGGTCTGTTTAGAGAAGATTTCCTAGAAGATAGAATTGTGCTGGGCTCCCTCGACCTCACTGACTTTCTCACCTTCTCTCTGCTGCCTTTTGATCCCTCCTCAGGAAGTGGGAGTGATGCTGCCTCTCTTCTGACCTCCGCTAAGAAACAGGGAGATCATTACATCCTCAATGGCTCCAAGGTACTAGCGTGCGTCCTCCCAGAGCACTTTGGAGATTGTTCCCAGCTTCCTCCTGACATCCTCTGGTTCCTTCACATCCGCGGGTTAATACTCCCATAGGATTTTTATGTGTTGGGAAGAGAACCT
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Task1_train_16906
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A sequence alteration has been identified in ACAD8 (acyl-CoA dehydrogenase family member 8) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Deficiency of isobutyryl-CoA dehydrogenase
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TCCTAATCTGATTCCAGATCATTTCGTTGACTTTTGTCTATCCTTTTTATACTCTCTTGGACTGCCTCTCTGATCTGCAGTCACTGCAGCGACCTTTTACCTCACCTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGGAGGACCCAGTGGTGTTCCCAGACGCTGTGAGAACTCAAGCATTCCCTGGTCCTTTTGCACCCCTTTTACCCCCACAGGCCTTCATCAGTGGTGCTGGTGAGTCAGACATCTATGTGGTCATGTGCCGAACAGGAGGACCAGGCCCCAAGGGCATCTCATGCATAGTTGTTGAGAAGGGGACCCCTGGCCTCAGCTTTGGCAAGAAGGAGAAAAAGGTGAGTGGCTGTTGGACAGGAAACAATTCAGGTTATGAGACTCTGCCACCTGCCAGCCCAACTCCTGCTCTATTTCAGAAAACAGGTTTGCATACTTGCTAACCTACCTTTGAAGCAGTTGCTTCTATTAGGATTTTCAACAGGAGCATATGAAATACAACAGGGCATTATTAAACACTAGGCCTCTGGGGAAAGTGACAATGTTTGCCAGTAAATTCTTCAAGCCACCTGTGAGTGTTCTGACCTCTCCTGCCTCTGCTTTTGGCCTGTGTTCCTTATCCAGCTGCTTACGTTGGTGCACTTTGTTGCTCCAGGAAGAGACGCTTAGAGAAGACCTGGTGTTGGCCACAAGTCTCAGTAATGGAAGGCGTGTGGTCCCTTTTGCTTCTTTGATTAAAAATAAAGTAAAACTCATTGGAGATGATTGTGGGTATTTCAGCAACCCAAGAAGGACACTTAGGTACTGTAAGTAATTTGAAAAGTAAGATACTTCTAGGATTAAGAGCCGCCATGGCCAGGGCATGAACAGGAGACTTGTGATCATGTAACCGTAATTGGTAATAAGGGCTCAAGACCCATTCAGATTTTTTAGACCAGATGCTCAAAGCAGTCATCTCTCTCTAGTTTGTACTGTTATGGGGGGACTTTGTGAGAGAAGGCAGGTAATGAAATGACCCCTAAGTGTACCTCTTTCTCACAGCTCCTCGGGTTTCTGTATTTTCCTACAGGATCCTTCCTGATCCTCTGTAACTGTAAGGCATTATGCATTTTAGCATCCCCTTCTCTTTGGTAACACAGCAACCATTTCCTAGGCTTCTACTGTGTGTGAAGCCCATGCTAACTCCTGGGCAGGAAGACCTTCAGTAAAAGGCTTAGAAATGGAGTTTATCCTATCAACAAAAGAGAGCAAGGAAATGATGTAAAGGCAGTCTATTTTCAGAGCCAGAGAGGAACTGGGAGATTGTAGATAGTTTGTGGTTTTCAATTAGAGGCACTGAAATTGGGGGCAGTTGGTGTCACAATCCTAAAAGAAGTTGTGAGAAGTGTTTGTAGGTTAGTCAGGTAGAGTAGACATTAGTAGATTCTCTTAATAAGTTAGAAAATGTTTAGCTGAAACAGGTATCTTTCTGAGTGCTGACAGGCCTTTAAACCTGAACTTTTTCTTTTTCCTCATTTTAAGTTCTTGTGGGTCTAAGTCTTGGGTGCTGAAACCCATACCTCACAGGCTCCCGTCCCCAGGGAAGGCCGCCCTACCTGCTGGATTGTTGGGCAACCACGCAGTCCCTGATTTTTGCCAGGTGGGGTGGAACTCCCAGCCAACACGAGCTGTGATCTTCGAAGACTGTGCTGTCCCTGTGGCCAACAGAATTGGGAGCGAGGGGCAGGGCTTCCTCATTGCCGTGAGAGGACTGAACGGAGGGAGGATCAATATTGGTGAGATACGCAGGGGTGTGGCAGGGAGGTAGCGGTCCGGGACAGGCACTGCTGTTTTCCAGCTTGGTTGGAACGTCGGCGCTCTTCCCCTCTAGCTTCCTGCTCCCTGGGGGCTGCCCACGCCTCTGTCATCCTCACCCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTCTGGCCAGTAACCAGGTAACCTCTGCCTTGCCTCCACATGGCTTTGCACTATTTGCAGCCCGGGACCTGCTCTAGGGCCCACATTTCCAGGAGAGAAGCCAGGAAATTCCTCTGTCAGTCCCACCACTGTCCTAGCCAGAGCTTGTGCTTTATTTCTGTCCATCTTTTCTTGGGATATCTTTAACGATATTAAAGTGTCGGGTGAGTGAAGTGGACTTAGCACTTAAAAGCAATAAATTTCCTCTATAGAAAAAGCAAGAGACTTTGAAGCTTTGGATCACTTAGAAAAGGCGCCTCCGAGATGTCTTACCGAGGCTCCTGCACCAGGTGCTGGTCTAAGCCCCTCAGTCTTGTCTGGTTCTCTGCTCCCTGTGCTGCAGTACTTGCAATTCACACTGGCTGATATGGCAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCAGCAGTGGCTCTGCAGGAGGAGAGGAAGGATGCAGTGGCCTTGTGCTCCATGGCCAAGCTCTTTGCTACAGATGAATGCTTTGCCGTAAGTGATTCCTCTGGCTCTCCTGGGATGGACAGGGAACAGCTGCTAGGCCCAGGGGTCTTGAGAGACATGAGTCAGATTTGGAACCCAGCCCTCCTGGAATCCCACAAGGATCACCTTAAGCTTAAGGATATAAATGAACTCATGAGCGGCCTATGTGGGAGCTCTCATCGCTGGCTTTTAGGCCTGCTGCATGCCATTATACACTTCATTATGTCACTGTTGTTTGGTTGTGTTCTAGGCGAGAAACCACCTTTGGAAGGTTCACAGCAGCCCCAATTTAGCACTCTGCCATGTTTACATTGTCAGGCTGCATTGCCACTAGGGGGAACCATAGCTTTTTATCATCCCAGCCAGGGTGGCTGTGGGCAGCTTCTGCCTGGCAGGTAATAAGGGAGAGGGGCAGAGGGCTTTGAGTCGCCTGTCTGGGGGGAACTGACAAGTTTAGTAGGTGAACTTCCCTTGTCTCTAACCATACAGAATGTGGAGGCCCTCTTTGAGCTTGGCTGTTTGTGGTTCTTTCATGGGTTTATGGCGGGCTGCCAGATCGTGGGCTGGGGTAGGAAGGGAAGCTGCTTGCTCCACAGTCTTCCCAGAGTCCAAGACGTCTAGTCCCTGTCTCCCTGCAGATCTGCAACCAGGCCTTGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCTGTTCAGCAGTACGTGCGGGACTCCAGGGTCCACCAGATTCTAGAAGGTAAAAATTGCCAGAGGTTATTCTCTTCCCTTCAGAACGGGGGCGGGATCGCTGCTTTCCCCACTCTCTGTCCCCATGCCTCCTGGGCCTCAGGGTGCAGTCAAGCCCTGTCTGTCTCGAGGCTTCCTCCTCCCTCCCGTTCCGCAGAGCTGTTCTGGCAGGGGCCTGGAGTCCAGAGCCGCAGCTTCGTCCCTTTCGGGGGGCCTCAGATCGCTCTGCTGCTGCCCTTTTCCTCTGGAGATCTGCGAGAAGGGTGAACTGAGATAATGGATGAGAAAGCATGTTGAAAACCACAGCCGGGGCTTTTCTCTAAGGTTATCGAGTACGTGGTTCTCAGGGATCCAAGAACAGTGATGGACAAGGCAAATGTGAGCCAGTATGGTCATCAGTAGCTCTATATTGATTATCAGCCAGATGGCCTAAAAGATACCTGTCTCAATATTACTAGTGTATTTTTCAATAAAATAAACCATCACTATATGGGTATCTTCTTGGTAGTCACAGACATTCTATCGAGGAAACATGGAAGCCGTTGGGGTCGGGCTCGGAGCCTGGCTGTCTCCACTCTCTACAGCCAGTGCGGAAGTCTTGAAATGACACGACTCTTGGAAAAGCAGGAGGGGCAGAGGCTTCTTTGAGTGACTTCGGTGAAGCAACGTGAGGCTGCCTTGCTGGAAACATTATATAATGGGGCTTCCCTGCCCCTTTCACAGCACCCTTCTCAA
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TCCTAATCTGATTCCAGATCATTTCGTTGACTTTTGTCTATCCTTTTTATACTCTCTTGGACTGCCTCTCTGATCTGCAGTCACTGCAGCGACCTTTTACCTCACCTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGGAGGACCCAGTGGTGTTCCCAGACGCTGTGAGAACTCAAGCATTCCCTGGTCCTTTTGCACCCCTTTTACCCCCACAGGCCTTCATCAGTGGTGCTGGTGAGTCAGACATCTATGTGGTCATGTGCCGAACAGGAGGACCAGGCCCCAAGGGCATCTCATGCATAGTTGTTGAGAAGGGGACCCCTGGCCTCAGCTTTGGCAAGAAGGAGAAAAAGGTGAGTGGCTGTTGGACAGGAAACAATTCAGGTTATGAGACTCTGCCACCTGCCAGCCCAACTCCTGCTCTATTTCAGAAAACAGGTTTGCATACTTGCTAACCTACCTTTGAAGCAGTTGCTTCTATTAGGATTTTCAACAGGAGCATATGAAATACAACAGGGCATTATTAAACACTAGGCCTCTGGGGAAAGTGACAATGTTTGCCAGTAAATTCTTCAAGCCACCTGTGAGTGTTCTGACCTCTCCTGCCTCTGCTTTTGGCCTGTGTTCCTTATCCAGCTGCTTACGTTGGTGCACTTTGTTGCTCCAGGAAGAGACGCTTAGAGAAGACCTGGTGTTGGCCACAAGTCTCAGTAATGGAAGGCGTGTGGTCCCTTTTGCTTCTTTGATTAAAAATAAAGTAAAACTCATTGGAGATGATTGTGGGTATTTCAGCAACCCAAGAAGGACACTTAGGTACTGTAAGTAATTTGAAAAGTAAGATACTTCTAGGATTAAGAGCCGCCATGGCCAGGGCATGAACAGGAGACTTGTGATCATGTAACCGTAATTGGTAATAAGGGCTCAAGACCCATTCAGATTTTTTAGACCAGATGCTCAAAGCAGTCATCTCTCTCTAGTTTGTACTGTTATGGGGGGACTTTGTGAGAGAAGGCAGGTAATGAAATGACCCCTAAGTGTACCTCTTTCTCACAGCTCCTCGGGTTTCTGTATTTTCCTACAGGATCCTTCCTGATCCTCTGTAACTGTAAGGCATTATGCATTTTAGCATCCCCTTCTCTTTGGTAACACAGCAACCATTTCCTAGGCTTCTACTGTGTGTGAAGCCCATGCTAACTCCTGGGCAGGAAGACCTTCAGTAAAAGGCTTAGAAATGGAGTTTATCCTATCAACAAAAGAGAGCAAGGAAATGATGTAAAGGCAGTCTATTTTCAGAGCCAGAGAGGAACTGGGAGATTGTAGATAGTTTGTGGTTTTCAATTAGAGGCACTGAAATTGGGGGCAGTTGGTGTCACAATCCTAAAAGAAGTTGTGAGAAGTGTTTGTAGGTTAGTCAGGTAGAGTAGACATTAGTAGATTCTCTTAATAAGTTAGAAAATGTTTAGCTGAAACAGGTATCTTTCTGAGTGCTGACAGGCCTTTAAACCTGAACTTTTTCTTTTTCCTCATTTTAAGTTCTTGTGGGTCTAAGTCTTGGGTGCTGAAACCCATACCTCACAGGCTCCCGTCCCCAGGGAAGGCCGCCCTACCTGCTGGATTGTTGGGCAACCACGCAGTCCCTGATTTTTGCCAGGTGGGGTGGAACTCCCAGCCAACACGAGCTGTGATCTTCGAAGACTGTGCTGTCCCTGTGGCCAACAGAATTGGGAGCGAGGGGCAGGGCTTCCTCATTGCCGTGAGAGGACTGAACGGAGGGAGGATCAATATTGGTGAGATACGCAGGGGTGTGGCAGGGAGGTAGCGGTCCGGGACAGGCACTGCTGTTTTCCAGCTTGGTTGGAACGTCGGCGCTCTTCCCCTCTAGCTTCCTGCTCCCTGGGGGCTGCCCAAGCCTCTGTCATCCTCACCCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTCTGGCCAGTAACCAGGTAACCTCTGCCTTGCCTCCACATGGCTTTGCACTATTTGCAGCCCGGGACCTGCTCTAGGGCCCACATTTCCAGGAGAGAAGCCAGGAAATTCCTCTGTCAGTCCCACCACTGTCCTAGCCAGAGCTTGTGCTTTATTTCTGTCCATCTTTTCTTGGGATATCTTTAACGATATTAAAGTGTCGGGTGAGTGAAGTGGACTTAGCACTTAAAAGCAATAAATTTCCTCTATAGAAAAAGCAAGAGACTTTGAAGCTTTGGATCACTTAGAAAAGGCGCCTCCGAGATGTCTTACCGAGGCTCCTGCACCAGGTGCTGGTCTAAGCCCCTCAGTCTTGTCTGGTTCTCTGCTCCCTGTGCTGCAGTACTTGCAATTCACACTGGCTGATATGGCAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCAGCAGTGGCTCTGCAGGAGGAGAGGAAGGATGCAGTGGCCTTGTGCTCCATGGCCAAGCTCTTTGCTACAGATGAATGCTTTGCCGTAAGTGATTCCTCTGGCTCTCCTGGGATGGACAGGGAACAGCTGCTAGGCCCAGGGGTCTTGAGAGACATGAGTCAGATTTGGAACCCAGCCCTCCTGGAATCCCACAAGGATCACCTTAAGCTTAAGGATATAAATGAACTCATGAGCGGCCTATGTGGGAGCTCTCATCGCTGGCTTTTAGGCCTGCTGCATGCCATTATACACTTCATTATGTCACTGTTGTTTGGTTGTGTTCTAGGCGAGAAACCACCTTTGGAAGGTTCACAGCAGCCCCAATTTAGCACTCTGCCATGTTTACATTGTCAGGCTGCATTGCCACTAGGGGGAACCATAGCTTTTTATCATCCCAGCCAGGGTGGCTGTGGGCAGCTTCTGCCTGGCAGGTAATAAGGGAGAGGGGCAGAGGGCTTTGAGTCGCCTGTCTGGGGGGAACTGACAAGTTTAGTAGGTGAACTTCCCTTGTCTCTAACCATACAGAATGTGGAGGCCCTCTTTGAGCTTGGCTGTTTGTGGTTCTTTCATGGGTTTATGGCGGGCTGCCAGATCGTGGGCTGGGGTAGGAAGGGAAGCTGCTTGCTCCACAGTCTTCCCAGAGTCCAAGACGTCTAGTCCCTGTCTCCCTGCAGATCTGCAACCAGGCCTTGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCTGTTCAGCAGTACGTGCGGGACTCCAGGGTCCACCAGATTCTAGAAGGTAAAAATTGCCAGAGGTTATTCTCTTCCCTTCAGAACGGGGGCGGGATCGCTGCTTTCCCCACTCTCTGTCCCCATGCCTCCTGGGCCTCAGGGTGCAGTCAAGCCCTGTCTGTCTCGAGGCTTCCTCCTCCCTCCCGTTCCGCAGAGCTGTTCTGGCAGGGGCCTGGAGTCCAGAGCCGCAGCTTCGTCCCTTTCGGGGGGCCTCAGATCGCTCTGCTGCTGCCCTTTTCCTCTGGAGATCTGCGAGAAGGGTGAACTGAGATAATGGATGAGAAAGCATGTTGAAAACCACAGCCGGGGCTTTTCTCTAAGGTTATCGAGTACGTGGTTCTCAGGGATCCAAGAACAGTGATGGACAAGGCAAATGTGAGCCAGTATGGTCATCAGTAGCTCTATATTGATTATCAGCCAGATGGCCTAAAAGATACCTGTCTCAATATTACTAGTGTATTTTTCAATAAAATAAACCATCACTATATGGGTATCTTCTTGGTAGTCACAGACATTCTATCGAGGAAACATGGAAGCCGTTGGGGTCGGGCTCGGAGCCTGGCTGTCTCCACTCTCTACAGCCAGTGCGGAAGTCTTGAAATGACACGACTCTTGGAAAAGCAGGAGGGGCAGAGGCTTCTTTGAGTGACTTCGGTGAAGCAACGTGAGGCTGCCTTGCTGGAAACATTATATAATGGGGCTTCCCTGCCCCTTTCACAGCACCCTTCTCAA
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Task1_train_16907
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A variant found in Chromosome 11 affects ACAD8 (acyl-CoA dehydrogenase family member 8). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Deficiency of isobutyryl-CoA dehydrogenase
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GTGGCTGTTGGACAGGAAACAATTCAGGTTATGAGACTCTGCCACCTGCCAGCCCAACTCCTGCTCTATTTCAGAAAACAGGTTTGCATACTTGCTAACCTACCTTTGAAGCAGTTGCTTCTATTAGGATTTTCAACAGGAGCATATGAAATACAACAGGGCATTATTAAACACTAGGCCTCTGGGGAAAGTGACAATGTTTGCCAGTAAATTCTTCAAGCCACCTGTGAGTGTTCTGACCTCTCCTGCCTCTGCTTTTGGCCTGTGTTCCTTATCCAGCTGCTTACGTTGGTGCACTTTGTTGCTCCAGGAAGAGACGCTTAGAGAAGACCTGGTGTTGGCCACAAGTCTCAGTAATGGAAGGCGTGTGGTCCCTTTTGCTTCTTTGATTAAAAATAAAGTAAAACTCATTGGAGATGATTGTGGGTATTTCAGCAACCCAAGAAGGACACTTAGGTACTGTAAGTAATTTGAAAAGTAAGATACTTCTAGGATTAAGAGCCGCCATGGCCAGGGCATGAACAGGAGACTTGTGATCATGTAACCGTAATTGGTAATAAGGGCTCAAGACCCATTCAGATTTTTTAGACCAGATGCTCAAAGCAGTCATCTCTCTCTAGTTTGTACTGTTATGGGGGGACTTTGTGAGAGAAGGCAGGTAATGAAATGACCCCTAAGTGTACCTCTTTCTCACAGCTCCTCGGGTTTCTGTATTTTCCTACAGGATCCTTCCTGATCCTCTGTAACTGTAAGGCATTATGCATTTTAGCATCCCCTTCTCTTTGGTAACACAGCAACCATTTCCTAGGCTTCTACTGTGTGTGAAGCCCATGCTAACTCCTGGGCAGGAAGACCTTCAGTAAAAGGCTTAGAAATGGAGTTTATCCTATCAACAAAAGAGAGCAAGGAAATGATGTAAAGGCAGTCTATTTTCAGAGCCAGAGAGGAACTGGGAGATTGTAGATAGTTTGTGGTTTTCAATTAGAGGCACTGAAATTGGGGGCAGTTGGTGTCACAATCCTAAAAGAAGTTGTGAGAAGTGTTTGTAGGTTAGTCAGGTAGAGTAGACATTAGTAGATTCTCTTAATAAGTTAGAAAATGTTTAGCTGAAACAGGTATCTTTCTGAGTGCTGACAGGCCTTTAAACCTGAACTTTTTCTTTTTCCTCATTTTAAGTTCTTGTGGGTCTAAGTCTTGGGTGCTGAAACCCATACCTCACAGGCTCCCGTCCCCAGGGAAGGCCGCCCTACCTGCTGGATTGTTGGGCAACCACGCAGTCCCTGATTTTTGCCAGGTGGGGTGGAACTCCCAGCCAACACGAGCTGTGATCTTCGAAGACTGTGCTGTCCCTGTGGCCAACAGAATTGGGAGCGAGGGGCAGGGCTTCCTCATTGCCGTGAGAGGACTGAACGGAGGGAGGATCAATATTGGTGAGATACGCAGGGGTGTGGCAGGGAGGTAGCGGTCCGGGACAGGCACTGCTGTTTTCCAGCTTGGTTGGAACGTCGGCGCTCTTCCCCTCTAGCTTCCTGCTCCCTGGGGGCTGCCCACGCCTCTGTCATCCTCACCCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTCTGGCCAGTAACCAGGTAACCTCTGCCTTGCCTCCACATGGCTTTGCACTATTTGCAGCCCGGGACCTGCTCTAGGGCCCACATTTCCAGGAGAGAAGCCAGGAAATTCCTCTGTCAGTCCCACCACTGTCCTAGCCAGAGCTTGTGCTTTATTTCTGTCCATCTTTTCTTGGGATATCTTTAACGATATTAAAGTGTCGGGTGAGTGAAGTGGACTTAGCACTTAAAAGCAATAAATTTCCTCTATAGAAAAAGCAAGAGACTTTGAAGCTTTGGATCACTTAGAAAAGGCGCCTCCGAGATGTCTTACCGAGGCTCCTGCACCAGGTGCTGGTCTAAGCCCCTCAGTCTTGTCTGGTTCTCTGCTCCCTGTGCTGCAGTACTTGCAATTCACACTGGCTGATATGGCAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCAGCAGTGGCTCTGCAGGAGGAGAGGAAGGATGCAGTGGCCTTGTGCTCCATGGCCAAGCTCTTTGCTACAGATGAATGCTTTGCCGTAAGTGATTCCTCTGGCTCTCCTGGGATGGACAGGGAACAGCTGCTAGGCCCAGGGGTCTTGAGAGACATGAGTCAGATTTGGAACCCAGCCCTCCTGGAATCCCACAAGGATCACCTTAAGCTTAAGGATATAAATGAACTCATGAGCGGCCTATGTGGGAGCTCTCATCGCTGGCTTTTAGGCCTGCTGCATGCCATTATACACTTCATTATGTCACTGTTGTTTGGTTGTGTTCTAGGCGAGAAACCACCTTTGGAAGGTTCACAGCAGCCCCAATTTAGCACTCTGCCATGTTTACATTGTCAGGCTGCATTGCCACTAGGGGGAACCATAGCTTTTTATCATCCCAGCCAGGGTGGCTGTGGGCAGCTTCTGCCTGGCAGGTAATAAGGGAGAGGGGCAGAGGGCTTTGAGTCGCCTGTCTGGGGGGAACTGACAAGTTTAGTAGGTGAACTTCCCTTGTCTCTAACCATACAGAATGTGGAGGCCCTCTTTGAGCTTGGCTGTTTGTGGTTCTTTCATGGGTTTATGGCGGGCTGCCAGATCGTGGGCTGGGGTAGGAAGGGAAGCTGCTTGCTCCACAGTCTTCCCAGAGTCCAAGACGTCTAGTCCCTGTCTCCCTGCAGATCTGCAACCAGGCCTTGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCTGTTCAGCAGTACGTGCGGGACTCCAGGGTCCACCAGATTCTAGAAGGTAAAAATTGCCAGAGGTTATTCTCTTCCCTTCAGAACGGGGGCGGGATCGCTGCTTTCCCCACTCTCTGTCCCCATGCCTCCTGGGCCTCAGGGTGCAGTCAAGCCCTGTCTGTCTCGAGGCTTCCTCCTCCCTCCCGTTCCGCAGAGCTGTTCTGGCAGGGGCCTGGAGTCCAGAGCCGCAGCTTCGTCCCTTTCGGGGGGCCTCAGATCGCTCTGCTGCTGCCCTTTTCCTCTGGAGATCTGCGAGAAGGGTGAACTGAGATAATGGATGAGAAAGCATGTTGAAAACCACAGCCGGGGCTTTTCTCTAAGGTTATCGAGTACGTGGTTCTCAGGGATCCAAGAACAGTGATGGACAAGGCAAATGTGAGCCAGTATGGTCATCAGTAGCTCTATATTGATTATCAGCCAGATGGCCTAAAAGATACCTGTCTCAATATTACTAGTGTATTTTTCAATAAAATAAACCATCACTATATGGGTATCTTCTTGGTAGTCACAGACATTCTATCGAGGAAACATGGAAGCCGTTGGGGTCGGGCTCGGAGCCTGGCTGTCTCCACTCTCTACAGCCAGTGCGGAAGTCTTGAAATGACACGACTCTTGGAAAAGCAGGAGGGGCAGAGGCTTCTTTGAGTGACTTCGGTGAAGCAACGTGAGGCTGCCTTGCTGGAAACATTATATAATGGGGCTTCCCTGCCCCTTTCACAGCACCCTTCTCAAACCTCAGCCTGTGCTGGAATCGCCTGGAGGGCATGGGAGCGCAGATTGCGGGCCTCAACCCCAGAGCTTCTGCTCCAGAGGGTCTAGTGTGGGCCTGGGAATTTGTATCTGCAACAAGTCTTCAAGTGAGGCTGCCACAGCTTGTCTGAGAACCACACTTTGAGACCCACCGCTCTGGTGTTAATGTCAGAGTCACAGGCTACCACAGGTTAGACCGCTGCTTTCTTCTGCAAACCTCATTCCAGAAAGATGTTTATGGGCTCAGTCGCCAGTGTTCAAACTGAATTCCCGAGAGTCGTTTTCCTTCCATTACTCTTGGAATTGCTTTCTCACTGAGCTTTATGTGCGTAGGAAACTTCGCCTTCATTCTAACTCTCTCTCCACCCTGCAATAATAAGCAGGAAAACATTTATTGTAGGCCACACCATCACCCACTTACAGAAGAATTGGGGCACTCATCACTGTATCACTTTGTTTCATCATGGACTTTACTGTTGG
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GTGGCTGTTGGACAGGAAACAATTCAGGTTATGAGACTCTGCCACCTGCCAGCCCAACTCCTGCTCTATTTCAGAAAACAGGTTTGCATACTTGCTAACCTACCTTTGAAGCAGTTGCTTCTATTAGGATTTTCAACAGGAGCATATGAAATACAACAGGGCATTATTAAACACTAGGCCTCTGGGGAAAGTGACAATGTTTGCCAGTAAATTCTTCAAGCCACCTGTGAGTGTTCTGACCTCTCCTGCCTCTGCTTTTGGCCTGTGTTCCTTATCCAGCTGCTTACGTTGGTGCACTTTGTTGCTCCAGGAAGAGACGCTTAGAGAAGACCTGGTGTTGGCCACAAGTCTCAGTAATGGAAGGCGTGTGGTCCCTTTTGCTTCTTTGATTAAAAATAAAGTAAAACTCATTGGAGATGATTGTGGGTATTTCAGCAACCCAAGAAGGACACTTAGGTACTGTAAGTAATTTGAAAAGTAAGATACTTCTAGGATTAAGAGCCGCCATGGCCAGGGCATGAACAGGAGACTTGTGATCATGTAACCGTAATTGGTAATAAGGGCTCAAGACCCATTCAGATTTTTTAGACCAGATGCTCAAAGCAGTCATCTCTCTCTAGTTTGTACTGTTATGGGGGGACTTTGTGAGAGAAGGCAGGTAATGAAATGACCCCTAAGTGTACCTCTTTCTCACAGCTCCTCGGGTTTCTGTATTTTCCTACAGGATCCTTCCTGATCCTCTGTAACTGTAAGGCATTATGCATTTTAGCATCCCCTTCTCTTTGGTAACACAGCAACCATTTCCTAGGCTTCTACTGTGTGTGAAGCCCATGCTAACTCCTGGGCAGGAAGACCTTCAGTAAAAGGCTTAGAAATGGAGTTTATCCTATCAACAAAAGAGAGCAAGGAAATGATGTAAAGGCAGTCTATTTTCAGAGCCAGAGAGGAACTGGGAGATTGTAGATAGTTTGTGGTTTTCAATTAGAGGCACTGAAATTGGGGGCAGTTGGTGTCACAATCCTAAAAGAAGTTGTGAGAAGTGTTTGTAGGTTAGTCAGGTAGAGTAGACATTAGTAGATTCTCTTAATAAGTTAGAAAATGTTTAGCTGAAACAGGTATCTTTCTGAGTGCTGACAGGCCTTTAAACCTGAACTTTTTCTTTTTCCTCATTTTAAGTTCTTGTGGGTCTAAGTCTTGGGTGCTGAAACCCATACCTCACAGGCTCCCGTCCCCAGGGAAGGCCGCCCTACCTGCTGGATTGTTGGGCAACCACGCAGTCCCTGATTTTTGCCAGGTGGGGTGGAACTCCCAGCCAACACGAGCTGTGATCTTCGAAGACTGTGCTGTCCCTGTGGCCAACAGAATTGGGAGCGAGGGGCAGGGCTTCCTCATTGCCGTGAGAGGACTGAACGGAGGGAGGATCAATATTGGTGAGATACGCAGGGGTGTGGCAGGGAGGTAGCGGTCCGGGACAGGCACTGCTGTTTTCCAGCTTGGTTGGAACGTCGGCGCTCTTCCCCTCTAGCTTCCTGCTCCCTGGGGGCTGCCCACGCCTCTGTCATCCTCACCCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTCTGGCCAGTAACCAGGTAACCTCTGCCTTGCCTCCACATGGCTTTGCACTATTTGCAGCCCGGGACCTGCTCTAGGGCCCACATTTCCAGGAGAGAAGCCAGGAAATTCCTCTGTCAGTCCCACCACTGTCCTAGCCAGAGCTTGTGCTTTATTTCTGTCCATCTTTTCTTGGGATATCTTTAACGATATTAAAGTGTCGGGTGAGTGAAGTGGACTTAGCACTTAAAAGCAATAAATTTCCTCTATAGAAAAAGCAAGAGACTTTGAAGCTTTGGATCACTTAGAAAAGGCGCCTCCGAGATGTCTTACCGAGGCTCCTGCACCAGGTGCTGGTCTAAGCCCCTCAGTCTTGTCTGGTTCTCTGCTCCCTGTGCTGCAGTACTTGCAATTCACACTGGCTGATATGGCAACAAGGCTGGTGGCCGCGCGGCTGATGGTCTGCAATGCAGCAGTGGCTCTGCAGGAGGAGAGGAAGGATGCAGTGGCCTTGTGCTCCATGGCCAAGCTCTTTGCTACAGATGAATGCTTTGCCGTAAGTGATTCCTCTGGCTCTCCTGGGATGGACAGGGAACAGCTGCTAGGCCCAGGGGTCTTGAGAGACATGAGTCAGATTTGGAACCCAGCCCTCCTGGAATCCCACAAGGATCACCTTAAGCTTAAGGATATAAATGAACTCATGAGCGGCCTATGTGGGAGCTCTCATCGCTGGCTTTTAGGCCTGCTGCATGCCATTATACACTTCATTATGTCACTGTTGTTTGGTTGTGTTCTAGGCGAGAAACCACCTTTGGAAGGTTCACAGCAGCCCCAATTTAGCACTCTGCCATGTTTACATTGTCAGGCTGCATTGCCACTAGGGGGAACCATAGCTTTTTATCATCCCAGCCAGGGTGGCTGTGGGCAGCTTCTGCCTGGCAGGTAATAAGGGAGAGGGGCAGAGGGCTTTGAGTCGCCTGTCTGGGGGGAACTGACAAGTTTAGTAGGTGAACTTCCCTTGTCTCTAACCATACAGAATGTGGAGGCCCTCTTTGAGCTTGGCTGTTTGTGGTTCTTTCATGGGTTTATGGCGGGCTGCCAGATCGTGGGCTGGGGTAGGAAGGGAAGCTGCTTGCTCCACAGTCTTCCCAGAGTCCAAGACGTCTAGTCCCTGTCTCCCTGCAGATCTGCAACCAGGCCTTGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCTGTTCAGCAGTACGTGCGGGACTCCAGGGTCCACCAGATTCTAGAAGGTAAAAATTGCCAGAGGTTATTCTCTTCCCTTCAGAACGGGGGCGGGATCGCTGCTTTCCCCACTCTCTGTCCCCATGCCTCCTGGGCCTCAGGGTGCAGTCAAGCCCTGTCTGTCTCGAGGCTTCCTCCTCCCTCCCGTTCCGCAGAGCTGTTCTGGCAGGGGCCTGGAGTCCAGAGCCGCAGCTTCGTCCCTTTCGGGGGGCCTCAGATCGCTCTGCTGCTGCCCTTTTCCTCTGGAGATCTGCGAGAAGGGTGAACTGAGATAATGGATGAGAAAGCATGTTGAAAACCACAGCCGGGGCTTTTCTCTAAGGTTATCGAGTACGTGGTTCTCAGGGATCCAAGAACAGTGATGGACAAGGCAAATGTGAGCCAGTATGGTCATCAGTAGCTCTATATTGATTATCAGCCAGATGGCCTAAAAGATACCTGTCTCAATATTACTAGTGTATTTTTCAATAAAATAAACCATCACTATATGGGTATCTTCTTGGTAGTCACAGACATTCTATCGAGGAAACATGGAAGCCGTTGGGGTCGGGCTCGGAGCCTGGCTGTCTCCACTCTCTACAGCCAGTGCGGAAGTCTTGAAATGACACGACTCTTGGAAAAGCAGGAGGGGCAGAGGCTTCTTTGAGTGACTTCGGTGAAGCAACGTGAGGCTGCCTTGCTGGAAACATTATATAATGGGGCTTCCCTGCCCCTTTCACAGCACCCTTCTCAAACCTCAGCCTGTGCTGGAATCGCCTGGAGGGCATGGGAGCGCAGATTGCGGGCCTCAACCCCAGAGCTTCTGCTCCAGAGGGTCTAGTGTGGGCCTGGGAATTTGTATCTGCAACAAGTCTTCAAGTGAGGCTGCCACAGCTTGTCTGAGAACCACACTTTGAGACCCACCGCTCTGGTGTTAATGTCAGAGTCACAGGCTACCACAGGTTAGACCGCTGCTTTCTTCTGCAAACCTCATTCCAGAAAGATGTTTATGGGCTCAGTCGCCAGTGTTCAAACTGAATTCCCGAGAGTCGTTTTCCTTCCATTACTCTTGGAATTGCTTTCTCACTGAGCTTTATGTGCGTAGGAAACTTCGCCTTCATTCTAACTCTCTCTCCACCCTGCAATAATAAGCAGGAAAACATTTATTGTAGGCCACACCATCACCCACTTACAGAAGAATTGGGGCACTCATCACTGTATCACTTTGTTTCATCATGGACTTTACTGTTGG
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Task1_train_16908
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This variant affects gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Brugada syndrome 3
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CTAGGTGAAAATGTTCACATGGCTAAGCCAGGTCATGTGCTCTTCACAGGTTCCTGTGGGGACGGGGTGGAGGTGGGGGTGATAGGTTCTGGAAAGCAGGTCACATGGGGAGCAAAGTTATCTTGGAGGTCAAACATAGAAGGATCAGCCCAAGATAAGAGTTGGGGAGGTGGCTGGGAGAGGCGCCAAGTGTTCATCTGTGTCTTAACAGGTGAGGAGAGGGAGGGGGTCAATAAGGTTGAGCCAGCAACCTTAGGACCCAGCAGCTTCCCTGGAAGACCCTGTGCACATGGACCAGAAAAGGCCACTGTGGGCGGCCTTGGGTGTCATGTATGTGCAACTGGTCTGGCTGCTTCGGCCACAGTCTCTGGGCAGCTGAAGTGTCCTCAGATGCCAACCTCACCGCCCACAGTAGCACCCTCTTATCTGCGGCTTTTCTTGATCCTGCGGCACCTGGCCAATTGACTAGCGGTACCACGTCTCAAGGTCATGCATGTGTTCTGGGAGATTCAGGTTTGGGCCAGGCTGAGCTGATCGCTTGGCAAACCTTACAGACTCTAGAGCGAGGCATCCAGCCTAACAGGCCAAAGAGTGTTTGCCAAGCATATGTGCTGTCTTAGGGACAGTCTCAGAGGCTTCGTTGCCTAGACACCAGAGCAGGGCAGCTGTCCCTGCGCAGGTTGGAGCCCTGGGTTGCACTGGTTCCAATCAGGTTTCCTTCCTGACACTGTCCCTCTCCCCTACCCCATCAACCCCTGCCACTCACAGCTCCTTTTCCCAGATAGCAAATGCTGTCTAATGAATCACCCCAAAACAAAGTGGCTCACAACAGCAGACACCCTGTTACTGCTCAGTCTCTGTGGCTCAGGAATTCAGGAAGTTCTTGTGTGGGTCAGTAATTCAAAAAGTTACTGATTTGGGGCAGTCCTGACTTGGGGTCTCTCCTGGGGTGGCAGTCAGATGGTGATTGGAGCAGCTGGGGGCTGGCCAGGGCTCCCTCTTGCCACATGGCCTCTCTGTTGAGGCTAGTCTGGGCTTCCTCACAGCATGGCAGCTCAGGGCTGAAAGGCTGCCTTGTGTGGGGGCTGGCTTCCTCCAGGACGACCATCCAGAGACAGTCAGGGGGATGCAACGTGGCTTTTTTTTTAACCTATCCTTGGAAGTCACACAGTGTCACTTTTGCTGTACTTTATTGGTAAAACAGTCACCAAAGGCTGACCTCATTTCAAGAGGAGGGCCTAGATCTTTCTCAATGAAAAGGGATGTCAGATATAAAGGGATTTGTTGACATGATTTAAAACCATCACAGCTCCCCTGGCCCCTCCTGGTCAACCAACACTTAAAGCCCAGATGGCTTTGAGGTAGCTGGATGTGACCTTACTCTAGTCCAGCCCTTCTCATTTTATTATATTTATTTTTGTTTATTGGAACTCAGGTGCAGAGAGTTGAGTGAATCATACTCCAGTTCATTGTACGTTTTCCATCATTGATTCATGCAGTGACCTCTCATATTCACTCACTCATTCATTTATGCTTCCTCCTTGCCCCTGTATCTTATGCTCATTTTCCTCCTCACCTTCCTTAAACAATCATTCTATTCGATTTCATGAATATCCTTTCATTTGCATGGGTTCTTAAAATATGTATTTTAATTTCTAGGTAATGTGTTGTGTTGTATCTGTTTCTGCTGAGGTCCATACGTGCTGTAATGCACGGATCTCATCTCTTGCCCACCTAAGGTGAGGCAAGGAGACTAGAGCGGAGTGACACGCCCAAGGTCACCCAGCTAAACCAGGACCGCAACGATCCTGGCCCTCTTCCCTCAGCATCTCACACTCATGTTTCCACGTGCCACCTCCTAACCGCCTGCAATAGCTTGAAATAAGGTTTTGAAAAAATTGTGAATCTGGGGTCCAGAGAGTGTCGGAAGTGCCCCTGTTTTCTATCTAGTAACTGTTGTGTTCTTTTCTCTTTTGCCACAGGTTCCAACTATGGGAGCCCACGCCCCGCCCATGCCAACATGAATGCCAATGCGGCAGCGGGGCTGGCCCCTGAGCACATCCCCACCCCGGGGGCTGCCCTGTCGTGGCAGGCGGCCATCGACGCAGCCCGGCAGGCTAAGCTGATGGGCAGCGCTGGCAATGCGACCATCTCCACAGTCAGCTCCACGCAGCGGAAGCGGCAGCAATATGGGAAACCCAAGAAGCAGGGCAGCACCACGGCCACACGCCCGCCCCGAGCCCTGCTCTGCCTGACCCTGAAGAACCCCATCCGGAGGGCCTGCATCAGCATTGTCGAATGGAAATATCCTTTGTTCACCGGGCTGGGCATGCTCCTGGGACCTGCACGCTGGGTCCAGCCCTCCGAGGCTCCCTGGGCCACGAGCTGTGTCAGCTGTGCTGGGCTACAAACGGGGCCTCGGGCCTACTGCATCTGCATCACTGGGGTGCTGTGAAATGCAGAGTTCTGGGCCCCGCCCTAGACTGGATGAATCAGAATATCTGGGGACGGGGCCCAGCAATCTGCTTGTATAATAAGCTGCCTGGGTTGGGTTTTTGTTTTTTGTTTTTTTCATATAATAAGCAACATTTGAGAAAATCAGCCTAAGAAGTTATGAAATATCATCTCCTGTAGCTGAGCTTGCCCAGGGGCCCACTCATGTGTTGGGGTAACAGTCGTTAGTTACATGCTGCCTCATTCCCTTCTTTCCCTTCTGTGCCATGGCGCTGGATGCTTTCACGGCCTTCCCTCTCTCTAGGGTGAAGGGGCTCAGGAGATGGAAGAGCGTAGTGGTCAGGGCCCCTGGCTGTTGGCTGGAGGGCCCTGAAGCAGTGGTTCTCAGCCCTGATTGCACATTAGAGTCTCCTGGAAAGTTATAACAAACTACAGACCACTCAGTTCCACCTAGGCATAAAAACAAACAAACAAAAAACAACAACGGAAAACTCTCTGGGTAATTCTAATGTGCAGACAAAGTTGAGAACACTGTCTGGAAGTGTTCTGTTTGTCCATATAGAAACAAGCAAATGGGTCCTTCAGAAACAGTGGCTTTGAAGGGATGGGCGCTCGCTGTGGAGTTACAAGCCCCTTACTTCATCAGAATCCTGGGGCTGTAGAAATTGGGAAGGACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCGTCTCGGCTCACTGCAAGCTCCTGGGTTCGCACCATTGTCCTGCCTCAGCCTCCTGTATAGCCGGGACCACAGGTGCCCGCCACCACGCTCGGCTATTCTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTAACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTAATCTGCCACCGTGCCCAGCCCAGAAAGGACCTTTAAGTGCTGAAGTTCCTCCCCCACTTCCACGAGTGATGAAATTGAGCCCCACAGGAGAGGCTCCCCAGGGTCATGTGGTCAGGAACAGATGGGACTAGAACCCTGGTACTGACTGTGGGAATTTTTATAATAAGGATTCCTCCAGGCAGGACTGCTGTGTCTCTCAAGGGCCAGGATGGGAGCATTAGGCTTCATCGATGAGTTTCTATGGAAAGATTTAAAAGTCTCAGGTACTGGTTGAAAGAAGGTAGCCTAGAGATAAAGAAAGTTTCTATTGAGACAGAAATGTTCTATAAATGTTTGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAGGTGAAACCTTATCTCTGCTAATAATACAAAAATTAGCCAGGCGTTGGGGCACATGCCAGTAATTCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACTCGGGACGAAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGAGGAAAAGAGTGAAACTCTGTCTCAAATAAATAAATAAATAAATATAAATGTTTGAGCCCCTCAACTTAAAAGTATTTTAAGAAAATGCAT
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CTAGGTGAAAATGTTCACATGGCTAAGCCAGGTCATGTGCTCTTCACAGGTTCCTGTGGGGACGGGGTGGAGGTGGGGGTGATAGGTTCTGGAAAGCAGGTCACATGGGGAGCAAAGTTATCTTGGAGGTCAAACATAGAAGGATCAGCCCAAGATAAGAGTTGGGGAGGTGGCTGGGAGAGGCGCCAAGTGTTCATCTGTGTCTTAACAGGTGAGGAGAGGGAGGGGGTCAATAAGGTTGAGCCAGCAACCTTAGGACCCAGCAGCTTCCCTGGAAGACCCTGTGCACATGGACCAGAAAAGGCCACTGTGGGCGGCCTTGGGTGTCATGTATGTGCAACTGGTCTGGCTGCTTCGGCCACAGTCTCTGGGCAGCTGAAGTGTCCTCAGATGCCAACCTCACCGCCCACAGTAGCACCCTCTTATCTGCGGCTTTTCTTGATCCTGCGGCACCTGGCCAATTGACTAGCGGTACCACGTCTCAAGGTCATGCATGTGTTCTGGGAGATTCAGGTTTGGGCCAGGCTGAGCTGATCGCTTGGCAAACCTTACAGACTCTAGAGCGAGGCATCCAGCCTAACAGGCCAAAGAGTGTTTGCCAAGCATATGTGCTGTCTTAGGGACAGTCTCAGAGGCTTCGTTGCCTAGACACCAGAGCAGGGCAGCTGTCCCTGCGCAGGTTGGAGCCCTGGGTTGCACTGGTTCCAATCAGGTTTCCTTCCTGACACTGTCCCTCTCCCCTACCCCATCAACCCCTGCCACTCACAGCTCCTTTTCCCAGATAGCAAATGCTGTCTAATGAATCACCCCAAAACAAAGTGGCTCACAACAGCAGACACCCTGTTACTGCTCAGTCTCTGTGGCTCAGGAATTCAGGAAGTTCTTGTGTGGGTCAGTAATTCAAAAAGTTACTGATTTGGGGCAGTCCTGACTTGGGGTCTCTCCTGGGGTGGCAGTCAGATGGTGATTGGAGCAGCTGGGGGCTGGCCAGGGCTCCCTCTTGCCACATGGCCTCTCTGTTGAGGCTAGTCTGGGCTTCCTCACAGCATGGCAGCTCAGGGCTGAAAGGCTGCCTTGTGTGGGGGCTGGCTTCCTCCAGGACGACCATCCAGAGACAGTCAGGGGGATGCAACGTGGCTTTTTTTTTAACCTATCCTTGGAAGTCACACAGTGTCACTTTTGCTGTACTTTATTGGTAAAACAGTCACCAAAGGCTGACCTCATTTCAAGAGGAGGGCCTAGATCTTTCTCAATGAAAAGGGATGTCAGATATAAAGGGATTTGTTGACATGATTTAAAACCATCACAGCTCCCCTGGCCCCTCCTGGTCAACCAACACTTAAAGCCCAGATGGCTTTGAGGTAGCTGGATGTGACCTTACTCTAGTCCAGCCCTTCTCATTTTATTATATTTATTTTTGTTTATTGGAACTCAGGTGCAGAGAGTTGAGTGAATCATACTCCAGTTCATTGTACGTTTTCCATCATTGATTCATGCAGTGACCTCTCATATTCACTCACTCATTCATTTATGCTTCCTCCTTGCCCCTGTATCTTATGCTCATTTTCCTCCTCACCTTCCTTAAACAATCATTCTATTCGATTTCATGAATATCCTTTCATTTGCATGGGTTCTTAAAATATGTATTTTAATTTCTAGGTAATGTGTTGTGTTGTATCTGTTTCTGCTGAGGTCCATACGTGCTGTAATGCACGGATCTCATCTCTTGCCCACCTAAGGTGAGGCAAGGAGACTAGAGCGGAGTGACACGCCCAAGGTCACCCAGCTAAACCAGGACCGCAACGATCCTGGCCCTCTTCCCTCAGCATCTCACACTCATGTTTCCACGTGCCACCTCCTAACCGCCTGCAATAGCTTGAAATAAGGTTTTGAAAAAATTGTGAATCTGGGGTCCAGAGAGTGTCGGAAGTGCCCCTGTTTTCTATCTAGTAACTGTTGTGTTCTTTTCTCTTTTGCCACAGGTTCCAACTATGGGAGCCCACGCCCCGCCCATGCCAACATGAATGCCAATGCGGCAGCGGGGCTGGTCCCTGAGCACATCCCCACCCCGGGGGCTGCCCTGTCGTGGCAGGCGGCCATCGACGCAGCCCGGCAGGCTAAGCTGATGGGCAGCGCTGGCAATGCGACCATCTCCACAGTCAGCTCCACGCAGCGGAAGCGGCAGCAATATGGGAAACCCAAGAAGCAGGGCAGCACCACGGCCACACGCCCGCCCCGAGCCCTGCTCTGCCTGACCCTGAAGAACCCCATCCGGAGGGCCTGCATCAGCATTGTCGAATGGAAATATCCTTTGTTCACCGGGCTGGGCATGCTCCTGGGACCTGCACGCTGGGTCCAGCCCTCCGAGGCTCCCTGGGCCACGAGCTGTGTCAGCTGTGCTGGGCTACAAACGGGGCCTCGGGCCTACTGCATCTGCATCACTGGGGTGCTGTGAAATGCAGAGTTCTGGGCCCCGCCCTAGACTGGATGAATCAGAATATCTGGGGACGGGGCCCAGCAATCTGCTTGTATAATAAGCTGCCTGGGTTGGGTTTTTGTTTTTTGTTTTTTTCATATAATAAGCAACATTTGAGAAAATCAGCCTAAGAAGTTATGAAATATCATCTCCTGTAGCTGAGCTTGCCCAGGGGCCCACTCATGTGTTGGGGTAACAGTCGTTAGTTACATGCTGCCTCATTCCCTTCTTTCCCTTCTGTGCCATGGCGCTGGATGCTTTCACGGCCTTCCCTCTCTCTAGGGTGAAGGGGCTCAGGAGATGGAAGAGCGTAGTGGTCAGGGCCCCTGGCTGTTGGCTGGAGGGCCCTGAAGCAGTGGTTCTCAGCCCTGATTGCACATTAGAGTCTCCTGGAAAGTTATAACAAACTACAGACCACTCAGTTCCACCTAGGCATAAAAACAAACAAACAAAAAACAACAACGGAAAACTCTCTGGGTAATTCTAATGTGCAGACAAAGTTGAGAACACTGTCTGGAAGTGTTCTGTTTGTCCATATAGAAACAAGCAAATGGGTCCTTCAGAAACAGTGGCTTTGAAGGGATGGGCGCTCGCTGTGGAGTTACAAGCCCCTTACTTCATCAGAATCCTGGGGCTGTAGAAATTGGGAAGGACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCGTCTCGGCTCACTGCAAGCTCCTGGGTTCGCACCATTGTCCTGCCTCAGCCTCCTGTATAGCCGGGACCACAGGTGCCCGCCACCACGCTCGGCTATTCTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTAACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTAATCTGCCACCGTGCCCAGCCCAGAAAGGACCTTTAAGTGCTGAAGTTCCTCCCCCACTTCCACGAGTGATGAAATTGAGCCCCACAGGAGAGGCTCCCCAGGGTCATGTGGTCAGGAACAGATGGGACTAGAACCCTGGTACTGACTGTGGGAATTTTTATAATAAGGATTCCTCCAGGCAGGACTGCTGTGTCTCTCAAGGGCCAGGATGGGAGCATTAGGCTTCATCGATGAGTTTCTATGGAAAGATTTAAAAGTCTCAGGTACTGGTTGAAAGAAGGTAGCCTAGAGATAAAGAAAGTTTCTATTGAGACAGAAATGTTCTATAAATGTTTGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAGGTGAAACCTTATCTCTGCTAATAATACAAAAATTAGCCAGGCGTTGGGGCACATGCCAGTAATTCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACTCGGGACGAAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGAGGAAAAGAGTGAAACTCTGTCTCAAATAAATAAATAAATAAATATAAATGTTTGAGCCCCTCAACTTAAAAGTATTTTAAGAAAATGCAT
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Task1_train_16909
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Gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
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AGTGGCAGACATGAAAGCTCTGAACCATCATGGGTTGGGGATAAGGAGATGGGCTAAGGGGCTGTGTGACAGCTCCACTATTCCCACTCCCACAAACATCCTCAGGTTCCCCTGTGCTGTGTTGTCTCATGTTTTCTTCTTCAACATTGCCCTGATGTACATTTTAACCCAACATCACCTGACTTTAAAAGATTGGAGCTTCCCACGTCCTGTGATTTGTTTGTGGTTCACAACCCCAAGGCAGCTGCCTCCCTAAACCAATTTTATGGCACAAAAATGGGCAGGAAGGGAAGGACGAATCTGCCTCTGAGATGCTGATGAAATCTGACCCCTGCACTCCTTTCCCACGCCGCGGCGTGATCTGGGCCTTCATCCACACGTGAGCTGGTGGTTCTTCCGGGTACCTCAGAAACACCTGGAAATTGTCTACGATGCACATTTCCAAGCTTCATAGCCAGATGATCTGTTTCAGTAGGTCTGGGTAGGGCCCAGAATTCTACAGTTTTTAATTTTGCATCCTCAAACTGCTTCACAGTGAGGCTGGCACTCCCTACATGCCCAGGGGATTGTGATGGAATGAATGGGAGCCCAGGGTACTGATATGGCCTGATGGCTCCCTGCAGAGCTTCCCATCTGGCCCTGCTCCCGATGGCCCTGCCTTGGAGGAACCTTCCAGCTGGCTAGGCAGGAGGAGGTGGGCCTTTGTGGGCAACATCCCTCCTCCAGAATGTGGGTGAGCCTGGAACACCCCCTCACCACTGCTCCCACATGCACACACCAGAGCTCCCTCTGACTCGCAGAGGAGGGGAAAATGGGTCTAGGGGTTCTGAGCCGAGTGCCCACTTGGGGCTGTGGACAGGCCCGCCGCACTCTGGAGGGCCTATGCCCGAATGCAATGTGGATGGGTGTTTCGTGGCTCCAGTGAGGGATGGCTGAGGCTTCTGCAGAGGCGAGCAGTGGAGCATGAAGGCATCCAGGCAGCCTTTGCCTGGTGGGGGCCATTAAGGCTCTGCACTTGGGATGGGGGTGTGGGAGAAAGCAATTAGTGGCGAGGGACGTGCATGAATCAGCACAGAGTCGGCTGGCTCTAATTGAGCCAACAAGTTTGTCCTGTTCGCTCTGGGCTCCCAGGGATGGGAGCTGCATCCTTAAATGCAAAGCCCTTCTTCAAGGTGGCAGGGGAGGAAGAAGATTGTCTTCTGCCCCTTGAGGAAAGAGAGGGGCTCTTTCCATTCTCCACTCCCACCCAGTGCCTGCCTCCATCCGCAAAGTGCTGATTTTCTCTGCTGAAATGTTCGACGTCTTTGGACAGAAGGTTTTATTTTCTCAAGAAAGAGATTTCACATTTCTGGATCGGTGTATGTGAGCAGGTTGCCTCTGTCTGGGCTGCTCTTAAGGGATCTTCACCGTCTCCATTTCTTTGTGGCTGCATTTTTGCTCTGTCTTTTGGAGGAACTCGGCTAGTACCCTCCCCAAGACCAAGTCTGCTGTCTTCAGGGCTTGTTCCTGCAGAATCGGAGCGCGGTTTTCCAGGAGCTGTGCTTTATCCCCTTCTCTTTTGGCCCTGACATTGTTTCCCTTTAGATGGAGACACTATGAATTCTCTTCTGGGAGAGCACAATAAAATGTCAACTGATTAACTAAATAAAATGTTTCAAAAAATATGAAATTTTTCCACTAGTCTAATATTTACATGTTCATGGGGGAACTTTGATGCAGAAAAAAAAAAATCCTGTAATCCCCAGTAGCTTGGTGCTGTCGCGGTAGAGCAGGTCGTGGAGTTGCTAATTTGGCCTGGGTGTCCCCACTTGGTTCCACCACAGAGGGGGCAGCATTATCTTCCACCTACTTGTGAGATCTACTGGTTCCAAACTTTCCAAATCCCCAAACCAATGACTTATTTTTCTCTCTTTTCTATTTCTGTTTCCTAGGAACGAGTGGAATATCTCTTTCTCATAATTTTTACGGTGGAAGCGTTTTTAAAAGTAATCGCCTATGGACTCCTCTTTCACCCCAATGCCTACCTCCGCAACGGCTGGAACCTACTAGATTTTATAATTGTGGTTGTGGGGTAAGTATCACTGTCTGTTTCTTTCCCTTTATCTTACCAGTGTTGCGGGACTTTTCCTTAAGTCAGCTGAAGACAGGGTCGTTGTCAGACGGCCACAAAGATTTAGGCTCGCAGATGATCTAGAGTGAGAAAAATGAGATTTATTTTGCTAAAAGGAACAGAAAGGGAAAGAGAGACTCAGCAAAGTGAGAGAGTGCGCTTCCTGCCCATGGGCTTCCCGCCTCGCAGGTTGAATCCAAGGTTCTACCCAGGAAAAGGAGGGGTCAGGCTTCTCCCTGCTGCAGTTGGTGGCGTGAACTTCCGTGGTTCCACCCTAGTGTGCACTCCTCCCAGTGCGCAGGCTGGCTGGAGTTTCTCTGGGGACCCCTCCCCACCTGGCTGTCTCACCAGTACATCCCTCTTCTTCCTTCTGTGTTATCTCTTTTCAATTTGGTCCTAACTATGCTGGGCTTCAGGCAAGAAGAAAGGATCTGTGAAAATCACTTTGAATTCAGACTTCCCCAGAGGGACAGGGGCTATGACCCAAGAGCACCCCTCTCCACCACTCCCACACAGCATGCACACACGGTTGGACCTGAGTGCTCCTGATGGAACCCAGGCTGCTCTGTGCTGCTGTAGGATATCCCCCTGCTTAAGGACTTTCGTTTCATCTCAGACCACATCTGGCCCCGCAGTTCCTCTGATAGTTTCCCTGCTGTATCACTGAGCACATTTGGGGCAGCTCGTCCGTGAGCATGCAGTCTGCAGGTGTGGGGTGAGGGTGGGGCGCACACAGGCTGTGCCTGTGCTCTGGACTTGTACAGAGGCCTCTTCCCCATTCTCACTCTACAGGGGGCCTGGTTCTGTGGCCCCAGAAAACCAGACTGCTCAAGACAGGTGGATGAGAAGGAAACAGGGAACTATGAAAGGCGAAGATGACAGGTAACCAAACCCCAATCAAATGCAGCTTCCCCCAGACACCCTGCTCCACTGTAGCATAAGATAAGGTAGAGTCAGTCTAGGCTTTCAAAACAGCAATGCAAAGAATCTTAAATAAAATGTAGAAGAGATCTCCTTATAAATAAGTTATTAACCTCACAAAAAGAATCTCCATAAAATATTTGTACCTAACAGGCCTACCTACACTGGTGAAGTGTAAGTTATTAAAATGCAGGTGAGGTCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTACAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACGCAGGTGATGAAGTTCCATCAACACATCTGTCTTGTAATAGGAGGGAGCCCATTGCAGCAGATTTTACCTTGAGAAGAAGCCGGTTCCTTTGGGCTAATCCCTTGTTACTCTGAGCCCAGTGAGTGCTCAAGTGGCTGCCACCTTGGACTCTCCCTCTCTTGAAGTCCTGGCAGTCTGCAGAGTCAAGGTCAGAATGTCAGGAGCTCTTTATCCCAGAGGCCTATTTTTGGAGGATCCTTTTGTGCCATCCCGGAGGAGACACAGCCATTGTGGACGTCTCCAGAGCACCCGCCGTTCACCATCTTGTGAGAGTGCCTGGTCTTTACTGCAGGAAATGACGCAGGAGGACGTCGAGATCATTTGCAAGTTATTTCCTTGTCTCTGGCCATCTGGATGGCTCATAAGGTTGCTTGGAACCACGTTAGGGTTTTTGTTGTTGTTGTTGTTGCCTTATTTTGCCTGGCCAATGAATGACGCACTTTGGCCACATGAACCTCAGGAATATTTGGGTGATACGAGGTGCACTAAGGTTATTAGCATCATTAGCCAGGTCTAGCTCT
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AGTGGCAGACATGAAAGCTCTGAACCATCATGGGTTGGGGATAAGGAGATGGGCTAAGGGGCTGTGTGACAGCTCCACTATTCCCACTCCCACAAACATCCTCAGGTTCCCCTGTGCTGTGTTGTCTCATGTTTTCTTCTTCAACATTGCCCTGATGTACATTTTAACCCAACATCACCTGACTTTAAAAGATTGGAGCTTCCCACGTCCTGTGATTTGTTTGTGGTTCACAACCCCAAGGCAGCTGCCTCCCTAAACCAATTTTATGGCACAAAAATGGGCAGGAAGGGAAGGACGAATCTGCCTCTGAGATGCTGATGAAATCTGACCCCTGCACTCCTTTCCCACGCCGCGGCGTGATCTGGGCCTTCATCCACACGTGAGCTGGTGGTTCTTCCGGGTACCTCAGAAACACCTGGAAATTGTCTACGATGCACATTTCCAAGCTTCATAGCCAGATGATCTGTTTCAGTAGGTCTGGGTAGGGCCCAGAATTCTACAGTTTTTAATTTTGCATCCTCAAACTGCTTCACAGTGAGGCTGGCACTCCCTACATGCCCAGGGGATTGTGATGGAATGAATGGGAGCCCAGGGTACTGATATGGCCTGATGGCTCCCTGCAGAGCTTCCCATCTGGCCCTGCTCCCGATGGCCCTGCCTTGGAGGAACCTTCCAGCTGGCTAGGCAGGAGGAGGTGGGCCTTTGTGGGCAACATCCCTCCTCCAGAATGTGGGTGAGCCTGGAACACCCCCTCACCACTGCTCCCACATGCACACACCAGAGCTCCCTCTGACTCGCAGAGGAGGGGAAAATGGGTCTAGGGGTTCTGAGCCGAGTGCCCACTTGGGGCTGTGGACAGGCCCGCCGCACTCTGGAGGGCCTATGCCCGAATGCAATGTGGATGGGTGTTTCGTGGCTCCAGTGAGGGATGGCTGAGGCTTCTGCAGAGGCGAGCAGTGGAGCATGAAGGCATCCAGGCAGCCTTTGCCTGGTGGGGGCCATTAAGGCTCTGCACTTGGGATGGGGGTGTGGGAGAAAGCAATTAGTGGCGAGGGACGTGCATGAATCAGCACAGAGTCGGCTGGCTCTAATTGAGCCAACAAGTTTGTCCTGTTCGCTCTGGGCTCCCAGGGATGGGAGCTGCATCCTTAAATGCAAAGCCCTTCTTCAAGGTGGCAGGGGAGGAAGAAGATTGTCTTCTGCCCCTTGAGGAAAGAGAGGGGCTCTTTCCATTCTCCACTCCCACCCAGTGCCTGCCTCCATCCGCAAAGTGCTGATTTTCTCTGCTGAAATGTTCGACGTCTTTGGACAGAAGGTTTTATTTTCTCAAGAAAGAGATTTCACATTTCTGGATCGGTGTATGTGAGCAGGTTGCCTCTGTCTGGGCTGCTCTTAAGGGATCTTCACCGTCTCCATTTCTTTGTGGCTGCATTTTTGCTCTGTCTTTTGGAGGAACTCGGCTAGTACCCTCCCCAAGACCAAGTCTGCTGTCTTCAGGGCTTGTTCCTGCAGAATCGGAGCGCGGTTTTCCAGGAGCTGTGCTTTATCCCCTTCTCTTTTGGCCCTGACATTGTTTCCCTTTAGATGGAGACACTATGAATTCTCTTCTGGGAGAGCACAATAAAATGTCAACTGATTAACTAAATAAAATGTTTCAAAAAATATGAAATTTTTCCACTAGTCTAATATTTACATGTTCATGGGGGAACTTTGATGCAGAAAAAAAAAAATCCTGTAATCCCCAGTAGCTTGGTGCTGTCGCGGTAGAGCAGGTCGTGGAGTTGCTAATTTGGCCTGGGTGTCCCCACTTGGTTCCACCACAGAGGGGGCAGCATTATCTTCCACCTACTTGTGAGATCTACTGGTTCCAAACTTTCCAAATCCCCAAACCAATGACTTATTTTTCTCTCTTTTCTATTTCTGTTTCCTAGGAACGAGTGGAATATCTCTTTCTCATAATTTTTACGGTGGAAGCGTTTTTAAAAGTAATCGCCTATGGACTCCTCTTTCACCCCAATGCCTACCTCCGCAACGGCTGGAACCTACTAAATTTTATAATTGTGGTTGTGGGGTAAGTATCACTGTCTGTTTCTTTCCCTTTATCTTACCAGTGTTGCGGGACTTTTCCTTAAGTCAGCTGAAGACAGGGTCGTTGTCAGACGGCCACAAAGATTTAGGCTCGCAGATGATCTAGAGTGAGAAAAATGAGATTTATTTTGCTAAAAGGAACAGAAAGGGAAAGAGAGACTCAGCAAAGTGAGAGAGTGCGCTTCCTGCCCATGGGCTTCCCGCCTCGCAGGTTGAATCCAAGGTTCTACCCAGGAAAAGGAGGGGTCAGGCTTCTCCCTGCTGCAGTTGGTGGCGTGAACTTCCGTGGTTCCACCCTAGTGTGCACTCCTCCCAGTGCGCAGGCTGGCTGGAGTTTCTCTGGGGACCCCTCCCCACCTGGCTGTCTCACCAGTACATCCCTCTTCTTCCTTCTGTGTTATCTCTTTTCAATTTGGTCCTAACTATGCTGGGCTTCAGGCAAGAAGAAAGGATCTGTGAAAATCACTTTGAATTCAGACTTCCCCAGAGGGACAGGGGCTATGACCCAAGAGCACCCCTCTCCACCACTCCCACACAGCATGCACACACGGTTGGACCTGAGTGCTCCTGATGGAACCCAGGCTGCTCTGTGCTGCTGTAGGATATCCCCCTGCTTAAGGACTTTCGTTTCATCTCAGACCACATCTGGCCCCGCAGTTCCTCTGATAGTTTCCCTGCTGTATCACTGAGCACATTTGGGGCAGCTCGTCCGTGAGCATGCAGTCTGCAGGTGTGGGGTGAGGGTGGGGCGCACACAGGCTGTGCCTGTGCTCTGGACTTGTACAGAGGCCTCTTCCCCATTCTCACTCTACAGGGGGCCTGGTTCTGTGGCCCCAGAAAACCAGACTGCTCAAGACAGGTGGATGAGAAGGAAACAGGGAACTATGAAAGGCGAAGATGACAGGTAACCAAACCCCAATCAAATGCAGCTTCCCCCAGACACCCTGCTCCACTGTAGCATAAGATAAGGTAGAGTCAGTCTAGGCTTTCAAAACAGCAATGCAAAGAATCTTAAATAAAATGTAGAAGAGATCTCCTTATAAATAAGTTATTAACCTCACAAAAAGAATCTCCATAAAATATTTGTACCTAACAGGCCTACCTACACTGGTGAAGTGTAAGTTATTAAAATGCAGGTGAGGTCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTACAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACGCAGGTGATGAAGTTCCATCAACACATCTGTCTTGTAATAGGAGGGAGCCCATTGCAGCAGATTTTACCTTGAGAAGAAGCCGGTTCCTTTGGGCTAATCCCTTGTTACTCTGAGCCCAGTGAGTGCTCAAGTGGCTGCCACCTTGGACTCTCCCTCTCTTGAAGTCCTGGCAGTCTGCAGAGTCAAGGTCAGAATGTCAGGAGCTCTTTATCCCAGAGGCCTATTTTTGGAGGATCCTTTTGTGCCATCCCGGAGGAGACACAGCCATTGTGGACGTCTCCAGAGCACCCGCCGTTCACCATCTTGTGAGAGTGCCTGGTCTTTACTGCAGGAAATGACGCAGGAGGACGTCGAGATCATTTGCAAGTTATTTCCTTGTCTCTGGCCATCTGGATGGCTCATAAGGTTGCTTGGAACCACGTTAGGGTTTTTGTTGTTGTTGTTGTTGCCTTATTTTGCCTGGCCAATGAATGACGCACTTTGGCCACATGAACCTCAGGAATATTTGGGTGATACGAGGTGCACTAAGGTTATTAGCATCATTAGCCAGGTCTAGCTCT
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Task1_train_16910
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This alteration in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Long qt syndrome 8
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ATGGGCATGCTCAGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAGCCCAAGGGCTGAGGGTATTACTATCCCACCTGCCTGAACTCCTTTGAGGCCCCTGGGTGGAAATCGTGGGGTGGTTATCAAACTTGAGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTAC
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ATGGGCATGCTCAGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAGCCCAAGGGCTGAGGGTATTACTATCCCACCTGCCTGAACTCCTTTGAGGCCCCTGGGTGGAAATCGTGGGGTGGTTATCAAACTTGAGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCAGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTAC
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Task1_train_16911
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Chromosome 12 houses a mutation in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Long QT syndrome
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ATGGGCATGCTCAGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAGCCCAAGGGCTGAGGGTATTACTATCCCACCTGCCTGAACTCCTTTGAGGCCCCTGGGTGGAAATCGTGGGGTGGTTATCAAACTTGAGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTAC
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ATGGGCATGCTCAGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAGCCCAAGGGCTGAGGGTATTACTATCCCACCTGCCTGAACTCCTTTGAGGCCCCTGGGTGGAAATCGTGGGGTGGTTATCAAACTTGAGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCAGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTAC
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Task1_train_16912
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Gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Timothy syndrome
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AGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAGCCCAAGGGCTGAGGGTATTACTATCCCACCTGCCTGAACTCCTTTGAGGCCCCTGGGTGGAAATCGTGGGGTGGTTATCAAACTTGAGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTT
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AGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAGCCCAAGGGCTGAGGGTATTACTATCCCACCTGCCTGAACTCCTTTGAGGCCCCTGGGTGGAAATCGTGGGGTGGTTATCAAACTTGAGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCCGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTT
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Task1_train_16913
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A sequence alteration has been identified in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; Long QT syndrome
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AGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAA
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AGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCAGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAA
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Task1_train_16914
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Consider a variant on Chromosome 12 in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Determine its clinical classification and disease relevance.
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Pathogenic; Long qt syndrome 8
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16915
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Assess the clinical impact of this variant on gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Timothy syndrome
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16916
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Consider a variant on Chromosome 12 in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Determine its clinical classification and disease relevance.
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Pathogenic; Cardiovascular phenotype
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16917
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A variant found in Chromosome 12 affects CACNA1C (calcium voltage-gated channel subunit alpha1 C). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Long QT syndrome
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16918
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A genetic alteration is present in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Brugada syndrome 3
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16919
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The gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Long qt syndrome 8
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16920
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A variant found in Chromosome 12 affects CACNA1C (calcium voltage-gated channel subunit alpha1 C). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16921
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The variant affects gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Timothy syndrome
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16922
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A variant on Chromosome 12 in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; CACNA1C-related disorder
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTATGTGCATTTCTGAACAGGTCCCCAGGTGACGCTGAAGCTGTTCGTCCGTGGGCCACACTTTGAGAGCCATTGATGTGAATCATTCAGGACACTTGTGTGCCTTGGAAGTTTGGGTTTCTATGAGCTAGTTTCACAAGGACAAAGTTGGGTGCATTTTTAGGAAGCCAGAACTTAACCCTGTTTAGTCAGAAGGCATCAGAAGAGATAGCTTTGAGAAACTAAATCAGAATAAATTTCCTCTGATGGAAGCACAGCTCTGCAATTTATCTTCACGTCCACCCTCCAGCCAGTGGTGAGCTAATAAATGTTTAAGCATCTCTTCTTAGGGTCAGCGGGTACAGGGGGCTGATTTATTGCTTGCCTATCTCTGTGGTGTAAATACTTCCACCATGGTCAGTTTCAAGCTGCCAGTGTGGTCAACGAACACGGAGCTGGGAAGAGATGTGCACGGTGAGCTCCCCTCAGCCCCCAGGAGCCAGCTCCGGCGCACCACTCCCTCTGGCTGCCGTAGGGGTTTGTGACCTTTCAGGGCGTTCTCCACCATTCAGTAGTTACAGTCAGTTTCCACATTAAGGACCATTTACCCCTAAGCTGTGGTTGCAGTCACAGGACCCTTCTCTGAATACATAAACCAAAATGATTGCCTCTCCCAGCCGGTGGCCCGCAGTACGTGTGAAGCACTGGGGTTTAGCCTCTAACTTCCGGGCTTGGCCCACGGTCCAGGTGGCCAAGGTTATCTTCTGAGGAAGGTTATCTTTCCTCACACCTCCTCTGTGGTTTCAGTTCTCCAGGCCTGTCAGCAGGAGCTGACGCACTTCATACACCAAGGTCAGGGGCCTCCGGGTGCAACAGAAGGCTTAATGTCCAGGCAAACCCAAGTGAGTTAAACCATCCCATGCTGAAGAAATTATTTTTTGAGGTGACCCATTTTCTCAGACAAGTGAATAGAAAACATTGGAGAAATGTTTCTTTTTCAGAAAATAAAACCACAGAGAGACAGAGTGATTCCTCTTGAGGCAGAGCGGGCCGAGGTCCCCTTCGGTCACAGGAGTTCCTTTGAACATGGGCGATGCCCTGGGTAACACGGGTAACCTGGTGCACATGAACAAAGCCCACGTTCAGCCCCGTCTGTCCCCTCCCAATCTGCTCACACCTGCTGCCTGCCTCTTTGCTGTAACCCAATTCTGCTTCTTCTTTCCTAACTTTCCTTCGTCTTTCCAGATGCAGGACGCTATGGGCTATGAGTTACCCTGGGTGTATTTTGTCAGTCTGGTCATCTTTGGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCACAACGCAGCCGAGCAAGGTCTCAGGTTCCACTCCGTACATGCCCGGGGTCCTCAGGGATGGGACCCTGACAGGCCCAGGAAAACCACAACAAAGCCTCTGTTCAACCACAGATTCTGACCCATTGGCCAGGCAGGCTGTTTGGCCTCTGATTTGCACCTAGAGGGTCCCCGGATCCTGGCGCTGCGTGGGTCAGTGTCTCGGGAGCCGGGGACCGGCACTGGCCGTGCTCGGTTGCTGAGTGTGCCTCACTAACTATCATTCCGTTCTTCCAGGTCAATGATGCCGTAGGAAGGGACTGGCCCTGGATCTATTTTGTTACACTAATCATCATAGGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCAGGTAAGCAGGACCAAGGAAAAAGGTCTTGATTTTTCCATTTATTTTTATTTATTCTTTCTGCTATTCCTGGCTGTATTCTTTTTCTGGCTCTGATGAACCTGGGATAAGGGGTCACCACAGGAGCCTTGAAGTGGATGTCCTTGTCCTGGCTGGGTAAAGGGTCAGATGTGCCACTGGTCTTGGTGGTGGACAATGGAGGAGAGCTGGCTTCACCACAAAAAGTGGGTCCAGCTGGCCCCTCCCAGCCTCAAGTAGCTGTCCAGGCAGGCAGGGCACTTCTCCTTGTGCCTTCGTGGCCTCTGGTGAACAGGCCTGGGTAAGAAAAGACTGGTTTAAAACATAAACAAAGACAGACTCAAAATCTAATTCTCATTTTACTTCATAGACTGAGCAGTCTATCTCTGAGTTTCCTTTTCTGAATGGAAAGGACCCTTAACTGTTTAAAGCCATATATTATTTAAGAATAGAGGAGATGGGATGCAATTTCCTCTAACTTTATATCTAGTTGGCTGCAAGTATCACATCTACCTAATTTCAGCCCTTGCTCAGATGAAGTTAGAAGTGGTAGAAGTAACCGGGCATGGTGGTGCACACCTGTAGACCCAGCAACTCAGAAGGCTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGTGCCACTGCACTGCAGCCTGGGCAACATAGCGAGACCCCATGGTAGAAGTAGCACGTGGTTGGAAGGAAGCACCTGAGGATGGCCACCTTTTCACCATGGAAACGCATAGGATATTTCCTCAACCCACTTTCTTCTTCAGAAGTCCACACCAGCCATGCCAAGGCCTAACACCTAAATGCTCCTGGTGACCTGCTCATGGGTAACCCACTCTGCTGCCTTTGCCACTTGGGGGAGGGGGGTAATCTACTTCTACTCTGCTTGAGACTGGTCAGCTGCTTTGCAGAGTCTTCCCTAAATGTCTAGAGAGGTTAATGCTGGGAGAAATTTAAGCATAAAGACAAAGATTGCTCTCCACTTTCCCCCAGTACCTAAACTGGGAATCGCTACTCCCAGCTCCTACAGCTGCCCTAATGCAGTTCAGAGCAGTGGGCTTGGCCTTCAGAGCTGCGTAGAGGAAAGAATCTCCTCCCAGCTCTTCCACCTCCCATGGAGAATGGCCCAGTAGAGACCTTGATGACAAAATGCCTTTTGCTAAGGTGAGGCCACACAGGAGACTAGTGCCTTCCATCAGGGATAACAGTGATGAGCAGAACAACGTAAGTCCCTGATTCATTGCCTGGAAGGTAGAGAGGTTTTCAGTTTTATGTTCAAACACAAGAAAATGCCCATGTGTTTATATGTGAATCTCTAAGGAAAAGATTGAAAAAATCAACCTCATCACCCTGAATCAAAGCAGAAATTGAGGCATCCCAGCTCTGCCCTTGCTGGGTACATAATGTTGGGTGGTTTCACCTTTTTAAATCTTAGTTTCCCCATCTGAAAAAGTGAAGCTGATAATTCCAGTGCATAGGTGGCTGTGATGATAGAATAAGATCATTTTCAGAATACTTAACACAGTGGTATATAATAAGTGCCCAATAATGGTGCTATCATTACAATGATTATTATTTACTTGGTGCCTGTTATAACTAGAAGTATAGAATCATCAAATATTAGACATGCTCCAGCCTTTCCTCTTAAAGATGAGGAGCGTGAGCCCAGAGATGTTAAGTGATTTGTACAACGTCACTTCCCTGGTAAGTAGCAGAACCAGAGCCAGCCCTCAAGGCACCGCCTCCCATGAGATCTATGATGAATGAGCTTGAACTGCAACACAAGCCACAGCTCAAGACTTTTAAAAGAATGTAACTCCACTTTCTTCCCCTGGAGACTGGGAACCAAATCTGAGCAAGTAACCCCCCACCAAGAGCCTGAAGTGGAGAATGAGGGCTGGGCCCTGAGGGTCCTCCCTGAGCAGAGCGTCTGCCCAGGAATCAAAGCAGTGAAGTCAAGTGACAGAAACTGCTGATGTTGGGGAAGAAGCCACTTTG
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Task1_train_16923
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This genomic variant is located on Chromosome 12, within the CACNA1C (calcium voltage-gated channel subunit alpha1 C) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Timothy syndrome
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TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATTCTGCCTCTAAAATTGCTGCCAGCTCTGTGTCATCTTTTCCATTAATATAGCTATTGCCTTCATCATCTCTAACCTGGAGAACAGGAAGAGAATTCCTCATACTCTCCCTGGTCTAGAAGGTGACAGAGGGGCTGTTTTTGTGGGGTGTTCCAATCCAACCTGATCATGTCCTTTCCCCCTCCCCAAGCCCTCAGCATGGCCCCTGCAGTCTCCTCCTCAGCACCTCTCCAGCTATGGTTCTTCTCTCCTTGCACAGTGCAGCCATTTATTAACCATGTCGTCTACTGAATTCAACCAAACAGAGCTGTATATTTTCTCTGTATCAGGAAAATGAAAACGCCTCCACCATAGAATCTTAAAATGTGTTTCTTTAGGATCATCTTAGCCACTGGTTCTCAACCATCATTACACATTAGAACCACCTGGGGAGCCTTAAAAATACCCAACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAATACCCAACCCCTAGAGAATCAGACTTAATTGGTTTGGTGTTGGGGCTTGCGGACCAGTGGGGTTTTGGGGAGGGTTCCCTAGGTAATTCTGTGTGTAGCCAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCAC
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TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATTCTGCCTCTAAAATTGCTGCCAGCTCTGTGTCATCTTTTCCATTAATATAGCTATTGCCTTCATCATCTCTAACCTGGAGAACAGGAAGAGAATTCCTCATACTCTCCCTGGTCTAGAAGGTGACAGAGGGGCTGTTTTTGTGGGGTGTTCCAATCCAACCTGATCATGTCCTTTCCCCCTCCCCAAGCCCTCAGCATGGCCCCTGCAGTCTCCTCCTCAGCACCTCTCCAGCTATGGTTCTTCTCTCCTTGCACAGTGCAGCCATTTATTAACCATGTCGTCTACTGAATTCAACCAAACAGAGCTGTATATTTTCTCTGTATCAGGAAAATGAAAACGCCTCCACCATAGAATCTTAAAATGTGTTTCTTTAGGATCATCTTAGCCACTGGTTCTCAACCATCATTACACATTAGAACCACCTGGGGAGCCTTAAAAATACCCAACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAATACCCAACCCCTAGAGAATCAGACTTAATTGGTTTGGTGTTGGGGCTTGCGGACCAGTGGGGTTTTGGGGAGGGTTCCCTAGGTAATTCTGTGTGTAGCCAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCTGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCAC
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Task1_train_16924
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Given a variant located on Chromosome 12 and affecting CACNA1C (calcium voltage-gated channel subunit alpha1 C), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Long qt syndrome 8
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TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATTCTGCCTCTAAAATTGCTGCCAGCTCTGTGTCATCTTTTCCATTAATATAGCTATTGCCTTCATCATCTCTAACCTGGAGAACAGGAAGAGAATTCCTCATACTCTCCCTGGTCTAGAAGGTGACAGAGGGGCTGTTTTTGTGGGGTGTTCCAATCCAACCTGATCATGTCCTTTCCCCCTCCCCAAGCCCTCAGCATGGCCCCTGCAGTCTCCTCCTCAGCACCTCTCCAGCTATGGTTCTTCTCTCCTTGCACAGTGCAGCCATTTATTAACCATGTCGTCTACTGAATTCAACCAAACAGAGCTGTATATTTTCTCTGTATCAGGAAAATGAAAACGCCTCCACCATAGAATCTTAAAATGTGTTTCTTTAGGATCATCTTAGCCACTGGTTCTCAACCATCATTACACATTAGAACCACCTGGGGAGCCTTAAAAATACCCAACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAATACCCAACCCCTAGAGAATCAGACTTAATTGGTTTGGTGTTGGGGCTTGCGGACCAGTGGGGTTTTGGGGAGGGTTCCCTAGGTAATTCTGTGTGTAGCCAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCAC
|
TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATTCTGCCTCTAAAATTGCTGCCAGCTCTGTGTCATCTTTTCCATTAATATAGCTATTGCCTTCATCATCTCTAACCTGGAGAACAGGAAGAGAATTCCTCATACTCTCCCTGGTCTAGAAGGTGACAGAGGGGCTGTTTTTGTGGGGTGTTCCAATCCAACCTGATCATGTCCTTTCCCCCTCCCCAAGCCCTCAGCATGGCCCCTGCAGTCTCCTCCTCAGCACCTCTCCAGCTATGGTTCTTCTCTCCTTGCACAGTGCAGCCATTTATTAACCATGTCGTCTACTGAATTCAACCAAACAGAGCTGTATATTTTCTCTGTATCAGGAAAATGAAAACGCCTCCACCATAGAATCTTAAAATGTGTTTCTTTAGGATCATCTTAGCCACTGGTTCTCAACCATCATTACACATTAGAACCACCTGGGGAGCCTTAAAAATACCCAACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAATACCCAACCCCTAGAGAATCAGACTTAATTGGTTTGGTGTTGGGGCTTGCGGACCAGTGGGGTTTTGGGGAGGGTTCCCTAGGTAATTCTGTGTGTAGCCAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCTGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCAC
|
Task1_train_16925
|
An alteration has been detected in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Long QT syndrome
|
TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATTCTGCCTCTAAAATTGCTGCCAGCTCTGTGTCATCTTTTCCATTAATATAGCTATTGCCTTCATCATCTCTAACCTGGAGAACAGGAAGAGAATTCCTCATACTCTCCCTGGTCTAGAAGGTGACAGAGGGGCTGTTTTTGTGGGGTGTTCCAATCCAACCTGATCATGTCCTTTCCCCCTCCCCAAGCCCTCAGCATGGCCCCTGCAGTCTCCTCCTCAGCACCTCTCCAGCTATGGTTCTTCTCTCCTTGCACAGTGCAGCCATTTATTAACCATGTCGTCTACTGAATTCAACCAAACAGAGCTGTATATTTTCTCTGTATCAGGAAAATGAAAACGCCTCCACCATAGAATCTTAAAATGTGTTTCTTTAGGATCATCTTAGCCACTGGTTCTCAACCATCATTACACATTAGAACCACCTGGGGAGCCTTAAAAATACCCAACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAATACCCAACCCCTAGAGAATCAGACTTAATTGGTTTGGTGTTGGGGCTTGCGGACCAGTGGGGTTTTGGGGAGGGTTCCCTAGGTAATTCTGTGTGTAGCCAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCAC
|
TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATTCTGCCTCTAAAATTGCTGCCAGCTCTGTGTCATCTTTTCCATTAATATAGCTATTGCCTTCATCATCTCTAACCTGGAGAACAGGAAGAGAATTCCTCATACTCTCCCTGGTCTAGAAGGTGACAGAGGGGCTGTTTTTGTGGGGTGTTCCAATCCAACCTGATCATGTCCTTTCCCCCTCCCCAAGCCCTCAGCATGGCCCCTGCAGTCTCCTCCTCAGCACCTCTCCAGCTATGGTTCTTCTCTCCTTGCACAGTGCAGCCATTTATTAACCATGTCGTCTACTGAATTCAACCAAACAGAGCTGTATATTTTCTCTGTATCAGGAAAATGAAAACGCCTCCACCATAGAATCTTAAAATGTGTTTCTTTAGGATCATCTTAGCCACTGGTTCTCAACCATCATTACACATTAGAACCACCTGGGGAGCCTTAAAAATACCCAACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAATACCCAACCCCTAGAGAATCAGACTTAATTGGTTTGGTGTTGGGGCTTGCGGACCAGTGGGGTTTTGGGGAGGGTTCCCTAGGTAATTCTGTGTGTAGCCAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCTGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCAC
|
Task1_train_16926
|
This mutation occurs in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Cardiovascular phenotype
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TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATTCTGCCTCTAAAATTGCTGCCAGCTCTGTGTCATCTTTTCCATTAATATAGCTATTGCCTTCATCATCTCTAACCTGGAGAACAGGAAGAGAATTCCTCATACTCTCCCTGGTCTAGAAGGTGACAGAGGGGCTGTTTTTGTGGGGTGTTCCAATCCAACCTGATCATGTCCTTTCCCCCTCCCCAAGCCCTCAGCATGGCCCCTGCAGTCTCCTCCTCAGCACCTCTCCAGCTATGGTTCTTCTCTCCTTGCACAGTGCAGCCATTTATTAACCATGTCGTCTACTGAATTCAACCAAACAGAGCTGTATATTTTCTCTGTATCAGGAAAATGAAAACGCCTCCACCATAGAATCTTAAAATGTGTTTCTTTAGGATCATCTTAGCCACTGGTTCTCAACCATCATTACACATTAGAACCACCTGGGGAGCCTTAAAAATACCCAACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAATACCCAACCCCTAGAGAATCAGACTTAATTGGTTTGGTGTTGGGGCTTGCGGACCAGTGGGGTTTTGGGGAGGGTTCCCTAGGTAATTCTGTGTGTAGCCAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCAC
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TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATTCTGCCTCTAAAATTGCTGCCAGCTCTGTGTCATCTTTTCCATTAATATAGCTATTGCCTTCATCATCTCTAACCTGGAGAACAGGAAGAGAATTCCTCATACTCTCCCTGGTCTAGAAGGTGACAGAGGGGCTGTTTTTGTGGGGTGTTCCAATCCAACCTGATCATGTCCTTTCCCCCTCCCCAAGCCCTCAGCATGGCCCCTGCAGTCTCCTCCTCAGCACCTCTCCAGCTATGGTTCTTCTCTCCTTGCACAGTGCAGCCATTTATTAACCATGTCGTCTACTGAATTCAACCAAACAGAGCTGTATATTTTCTCTGTATCAGGAAAATGAAAACGCCTCCACCATAGAATCTTAAAATGTGTTTCTTTAGGATCATCTTAGCCACTGGTTCTCAACCATCATTACACATTAGAACCACCTGGGGAGCCTTAAAAATACCCAACCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAATACCCAACCCCTAGAGAATCAGACTTAATTGGTTTGGTGTTGGGGCTTGCGGACCAGTGGGGTTTTGGGGAGGGTTCCCTAGGTAATTCTGTGTGTAGCCAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCTGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCAC
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Task1_train_16927
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This genomic variant is located on Chromosome 12, within the CACNA1C (calcium voltage-gated channel subunit alpha1 C) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Long qt syndrome 8
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CAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCACACCCAAGTGCCTTAGACAGATGAATGTATTTTTAAAATGTGGTCTACACATACAGTTCAATATTATTCAGTCTTAAAAAGGAAGGAAATCCTGACACATGCTACAAAGTAGATGAAACTTAAGGACATTATGCTAAGTGAAATAAGCCAGTCACAGAAAGACAAATACTGTATGATTCCATTTATATGTGGCTCTTAGAGTAGTCAGATTCACAGAGACAGAAAGCAGAATGGTGGGCGCCCAGGGCTGGAGGGAGGGGGCAGTGGGGAGTTAGTGTTTAATGGGTTCTGGAGATGGAGGATGGTGGTGGTTTCACAACAGCGTGAATGTATTTAGCACCACTGAATTCTACAGTTTAAAAAAAAAGGTTAAGATGGTAAATTTTATGTTATGTGTATTTTAACACAGTGAAACAAATTGGAAGAAATCTTCCAGAAGTCTCAGCAAGGGCTTCTGTTCTTGAGCACCTGAGCTGTTAGGGAGGCTGAGAAATGCAGTATTCTAGCAGGACAAGTTCTGCTGAAAATGCGTTCAAGATCTAGCCACTGTAAAGGGCTGTGGACACTGCACTGCAGATGGTGTTCACCCTCTGTCCACATGGCCACCCCTCCATATGTCAGTCCGGCACCTACCCAAAGCAGGCCATCTCCCTCACTGTCTAGGCCAAGCAGTGACTCTCAAGACAAGGACAGGGCTGAGGGGCACCATGCTCTAGGACAATGATTTTCACCTGACTTATGACCACTGGGAGTGGTGGAATCCATTTATTGGATCACAACCATCATTTTAAAACATACTGAAATATAATTCATATCCCATATATTTACCCCTTACAATGTGTAACTTAATTGTTTTTTTATATTCATGGTTATGCAACCATCACCATGTTCTAGTTGTAGAACATTTTCATCACCCCAGAAAGAAACTCCATACCCATTCCACATTTCCCCCATCTTCCCTCCCAGCAACCAAATTCACTTTATGTCTCTATAGAGTTGCCTATTTTGGACCATTCATGTGAGTGAAATCTTATAATATGTGTTTTTGTGATGGCCTCTTTGACTTAGAATAATGTTTTCAAGGGCCATCCATGTTGTAGCATAGATCAGTACTTTGTTTCCTTTTATGGTGAATAATATTCCATTGTAGGGATATACTACATTTTGTGTATTCATGTAT
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CAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGACTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCACACCCAAGTGCCTTAGACAGATGAATGTATTTTTAAAATGTGGTCTACACATACAGTTCAATATTATTCAGTCTTAAAAAGGAAGGAAATCCTGACACATGCTACAAAGTAGATGAAACTTAAGGACATTATGCTAAGTGAAATAAGCCAGTCACAGAAAGACAAATACTGTATGATTCCATTTATATGTGGCTCTTAGAGTAGTCAGATTCACAGAGACAGAAAGCAGAATGGTGGGCGCCCAGGGCTGGAGGGAGGGGGCAGTGGGGAGTTAGTGTTTAATGGGTTCTGGAGATGGAGGATGGTGGTGGTTTCACAACAGCGTGAATGTATTTAGCACCACTGAATTCTACAGTTTAAAAAAAAAGGTTAAGATGGTAAATTTTATGTTATGTGTATTTTAACACAGTGAAACAAATTGGAAGAAATCTTCCAGAAGTCTCAGCAAGGGCTTCTGTTCTTGAGCACCTGAGCTGTTAGGGAGGCTGAGAAATGCAGTATTCTAGCAGGACAAGTTCTGCTGAAAATGCGTTCAAGATCTAGCCACTGTAAAGGGCTGTGGACACTGCACTGCAGATGGTGTTCACCCTCTGTCCACATGGCCACCCCTCCATATGTCAGTCCGGCACCTACCCAAAGCAGGCCATCTCCCTCACTGTCTAGGCCAAGCAGTGACTCTCAAGACAAGGACAGGGCTGAGGGGCACCATGCTCTAGGACAATGATTTTCACCTGACTTATGACCACTGGGAGTGGTGGAATCCATTTATTGGATCACAACCATCATTTTAAAACATACTGAAATATAATTCATATCCCATATATTTACCCCTTACAATGTGTAACTTAATTGTTTTTTTATATTCATGGTTATGCAACCATCACCATGTTCTAGTTGTAGAACATTTTCATCACCCCAGAAAGAAACTCCATACCCATTCCACATTTCCCCCATCTTCCCTCCCAGCAACCAAATTCACTTTATGTCTCTATAGAGTTGCCTATTTTGGACCATTCATGTGAGTGAAATCTTATAATATGTGTTTTTGTGATGGCCTCTTTGACTTAGAATAATGTTTTCAAGGGCCATCCATGTTGTAGCATAGATCAGTACTTTGTTTCCTTTTATGGTGAATAATATTCCATTGTAGGGATATACTACATTTTGTGTATTCATGTAT
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Task1_train_16928
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A change on Chromosome 12 affects gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Timothy syndrome
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AGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGTGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCACACCCAAGTGCCTTAGACAGATGAATGTATTTTTAAAATGTGGTCTACACATACAGTTCAATATTATTCAGTCTTAAAAAGGAAGGAAATCCTGACACATGCTACAAAGTAGATGAAACTTAAGGACATTATGCTAAGTGAAATAAGCCAGTCACAGAAAGACAAATACTGTATGATTCCATTTATATGTGGCTCTTAGAGTAGTCAGATTCACAGAGACAGAAAGCAGAATGGTGGGCGCCCAGGGCTGGAGGGAGGGGGCAGTGGGGAGTTAGTGTTTAATGGGTTCTGGAGATGGAGGATGGTGGTGGTTTCACAACAGCGTGAATGTATTTAGCACCACTGAATTCTACAGTTTAAAAAAAAAGGTTAAGATGGTAAATTTTATGTTATGTGTATTTTAACACAGTGAAACAAATTGGAAGAAATCTTCCAGAAGTCTCAGCAAGGGCTTCTGTTCTTGAGCACCTGAGCTGTTAGGGAGGCTGAGAAATGCAGTATTCTAGCAGGACAAGTTCTGCTGAAAATGCGTTCAAGATCTAGCCACTGTAAAGGGCTGTGGACACTGCACTGCAGATGGTGTTCACCCTCTGTCCACATGGCCACCCCTCCATATGTCAGTCCGGCACCTACCCAAAGCAGGCCATCTCCCTCACTGTCTAGGCCAAGCAGTGACTCTCAAGACAAGGACAGGGCTGAGGGGCACCATGCTCTAGGACAATGATTTTCACCTGACTTATGACCACTGGGAGTGGTGGAATCCATTTATTGGATCACAACCATCATTTTAAAACATACTGAAATATAATTCATATCCCATATATTTACCCCTTACAATGTGTAACTTAATTGTTTTTTTATATTCATGGTTATGCAACCATCACCATGTTCTAGTTGTAGAACATTTTCATCACCCCAGAAAGAAACTCCATACCCATTCCACATTTCCCCCATCTTCCCTCCCAGCAACCAAATTCACTTTATGTCTCTATAGAGTTGCCTATTTTGGACCATTCATGTGAGTGAAATCTTATAATATGTGTTTTTGTGATGGCCTCTTTGACTTAGAATAATGTTTTCAAGGGCCATCCATGTTGTAGCATAGATCAGTACTTTGTTTCCTTTTATGGTGAATAATATTCCATTGTAGGGATATACTACATTTTGTGTATTCATGTATCAGTGATGGACATTTGGTTGTTACTATCTTTTGGCTCCTATGAATAATGCTGCTATGAACATTCATGTTCAAGTCTTCCTATAGATGTAGGCTTTTGTTTTTCTTGGA
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AGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTACTGGGCCCCTCCTCCACTGTTACTAATAATGCTCTTATTGCTTACAACACTATTTCTAAGAATGCTGTTTCACAAAAATTAAAAAAACTTCCATTTATTGAGCATCTTCAACTTCAAAGCAGCCAGATGCATTATAAGGTATTTGATCCATCCCCACAATAACCCCATGAGGTCGGCCCTCTTCCCGGGAGAACTGAAGCTTGGAGGAGTTCAGGGGCATCCCCAAGGCGGCAGGGCCTGGTTAGCTGGATGAGAAGCTGGGCTCCTTGCCACCAGATTGGGCTGCTCTAGCAAGGCCAGATCAGTGAGGGGCGAGAAGAGCCATGGTGCTGCATCTTGGGTTGGAGGAAACCTGAATTCACAGCCAACCCCACCCTTCTCTCCCTGTCCCCTTTCCAGCCGCTACTGGCGCCGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTGGCTGGTGATTTTCCTGGTGTTCCTCAACACGCTCACCATTGCCTCTGAGCACTACAACCAGCCCAACTGGCTCACAGAAGTCCAAGGTGAGCGGCGGCCCCAGCTCTGCTCTGGTTTCCTCCTGGTAACTCAGCCCCAAGGCCCAGGGGAGGGCATAACCACAGGCAGAAGGTGGAGGGGAAAGCAGCCAATGGTCGGGGCTCTTGGCAGGTGCTGTGCTGGAGACACCAAGGGCCTGGCAGTTCCAAAGCCCCACAATAAAATGCGCTACCTTGTTAAAAACAGACACGGCTCTCCTGACTGGGCCCACACCATCAGCCTGCCCCAAAGTCACTGTTGGACCCAGGTGATGAGGAAAGGGGCTGCAGCTTGTTTGCCTATCTCAGACTCCTGGCTGCCAACTCCCCAGCATGGATTTTAAATACCTGGGGGCCTTCCTACAGCCCTGAGGTGGCCTTAACCAGAACACATGAGGATGGAATGAGCAAAAAGGCAGAGAAGAGAATAGGGCCTGAGCACAAGGAACCGTCTTCAATGGGTCGTTCATTCTCATTATCCTTCCTTGGGCCCCTAGACGAGGGTCCCACTAGCCAGGCCTCAGCATCATTGCTGGGCAGTCAAGAAGACCTGGCCCCATCCTCCACAGCTGCTTTCCAGAGTCCTGGGAGGCAGGGGGTCTAGTGGCGGAGAAGTCAGACTCAGACAGTGCGGCTCCAACTGTTGGCTGTTTGGCCTGCACAGGCTACTCACCTCTTTGAACCTCCTTTCTCATCTCTGAAAATGGGCATGACGATGGTGGTACCATCCCCACAGGCCTGCTATGAGGAGGAGAGATTGTGTGTGCTGAGCCTATGGTGCATGGGAGATGCTCAGTAAATGTCTGTTATGATTGTGACGAGAGAGCCCTTTCCCATTGGCTTGGCCCCAACTTCTGTTCTGGCCGAGGTGGATGGGAGAGGTGTCATGGGGGATCTTTTTTCCAATGGAGATAATTACTGTATTTCCTTTCCCTGCCTCCCTCTCTGCCTCCTCTGGCCCTGCTCGGATCTCATCCCTCTCCTGGGCCTGCCAGACACGGCAAACAAGGCCCTGCTGGCCCTGTTCACGGCAGAGATGCTCCTGAAGATGTACAGCCTGGGCCTGCAGGCCTACTTCGTGTCCCTCTTCAACCGCTTTGACTGCTTCGTCGTGTGTGGCGGCATCCTGGAGACCATCCTGGTGGAGACCAAGATCATGTCCCCACTGGGCATCTCCGGGCTCAGATGCGTCCGGCTGCTGAGGATTTTCAAGATCACGAGGTACTGGGCTCCCCCTCTCACTTTGAAGAGGGGACTCAGGAAGAAGTTCTTCCAGAGGGCAAGGGAGGTGGCAAGGCCTGGGTGGGAGGGGGGCTGTTCTTCCTCAAAGGGTGTCTCTGAAGTTCACATGCAATGGGGGTAGTTTGTGTTCATTTAGATGGCACATCATTTGGAAATTCCTCTGGCTGCTAATACCAGAGACTCAACTCAGTAATGTAAGCAAGCTAGGGACTTATTCAGCCATGGAAAAAAAGTCCAGAGGCAGCTAGCTGAGGTGCCTTCAAGAAGAGGGTCAGGGACTCAATCTCTTCTCCTGTGCTTCACCAGCCTTGGTGCTGATTCTTCTCCAGGGTCATAAGATGACTTCTGGAGACTGAGCCATCACATTCAAATTGGAGGTGGGAAGAAGAGAAAGGAGCAAAAGGGCCGACCACCCCGGCCAAGTCAGCTTCTCCACTCCCAGAAGTCACTCCCAGACACACCCATTAGGACTGCTGCTGTCAAAAAAAACTGAAAATCATAAGGGTTGGCAATGACATGGAGAAATTGGAACCCTTGTGCACTATGGGTGGGAGTGTAAAATGGTGCAGCCACCGTGGGAAATGGTATGGCAGTTCCTAAAAACGTTAATGATAGGATTACCCTCTCATCCATCAATTCCACTTCTGGGTATATGCCCAAAATAATTGAAAGTAGGATCTCAAAGAGATATTTGCACACCCAAGTGCCTTAGACAGATGAATGTATTTTTAAAATGTGGTCTACACATACAGTTCAATATTATTCAGTCTTAAAAAGGAAGGAAATCCTGACACATGCTACAAAGTAGATGAAACTTAAGGACATTATGCTAAGTGAAATAAGCCAGTCACAGAAAGACAAATACTGTATGATTCCATTTATATGTGGCTCTTAGAGTAGTCAGATTCACAGAGACAGAAAGCAGAATGGTGGGCGCCCAGGGCTGGAGGGAGGGGGCAGTGGGGAGTTAGTGTTTAATGGGTTCTGGAGATGGAGGATGGTGGTGGTTTCACAACAGCGTGAATGTATTTAGCACCACTGAATTCTACAGTTTAAAAAAAAAGGTTAAGATGGTAAATTTTATGTTATGTGTATTTTAACACAGTGAAACAAATTGGAAGAAATCTTCCAGAAGTCTCAGCAAGGGCTTCTGTTCTTGAGCACCTGAGCTGTTAGGGAGGCTGAGAAATGCAGTATTCTAGCAGGACAAGTTCTGCTGAAAATGCGTTCAAGATCTAGCCACTGTAAAGGGCTGTGGACACTGCACTGCAGATGGTGTTCACCCTCTGTCCACATGGCCACCCCTCCATATGTCAGTCCGGCACCTACCCAAAGCAGGCCATCTCCCTCACTGTCTAGGCCAAGCAGTGACTCTCAAGACAAGGACAGGGCTGAGGGGCACCATGCTCTAGGACAATGATTTTCACCTGACTTATGACCACTGGGAGTGGTGGAATCCATTTATTGGATCACAACCATCATTTTAAAACATACTGAAATATAATTCATATCCCATATATTTACCCCTTACAATGTGTAACTTAATTGTTTTTTTATATTCATGGTTATGCAACCATCACCATGTTCTAGTTGTAGAACATTTTCATCACCCCAGAAAGAAACTCCATACCCATTCCACATTTCCCCCATCTTCCCTCCCAGCAACCAAATTCACTTTATGTCTCTATAGAGTTGCCTATTTTGGACCATTCATGTGAGTGAAATCTTATAATATGTGTTTTTGTGATGGCCTCTTTGACTTAGAATAATGTTTTCAAGGGCCATCCATGTTGTAGCATAGATCAGTACTTTGTTTCCTTTTATGGTGAATAATATTCCATTGTAGGGATATACTACATTTTGTGTATTCATGTATCAGTGATGGACATTTGGTTGTTACTATCTTTTGGCTCCTATGAATAATGCTGCTATGAACATTCATGTTCAAGTCTTCCTATAGATGTAGGCTTTTGTTTTTCTTGGA
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Task1_train_16929
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A genetic alteration is present in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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TTATTAATTAATTAATTAATATTTTAGGACAGGGTCTCACTCCGTCACCCAGGATGAAGGGCAATGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTTCCATCTCAGTCTCCCCAGTAGGTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTTAATTTTTTAAAGATGAGGTCTCACACTGCTGCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGACCTCCTAAAGTGACAATCCTCCCAAAGGGGGTTATAGGCATGAGCCACCACCATGCCCAGCCACCTCTACTGATGTTGATCACCGGGCAGGCTTGGGAAAACTGCTTTAGCTGTAAGAGGGGAGGGTGTTCTACCCCCAGAGAGGTTCTCTTACTTTTTCCTTTAAGCAGATCACTACAGCCTCTAGCCTGCAGGGGCTCCAGGCAGTCCATCACACATACTGGGTTGTACAGAATTTATATAAGGACAGAGTTGGGAAGCTGGAGGGGGACAAAACCCTGCAATCTTCTGCCGTCTAAAATTTAGAGCCTATTTTGGTGAGACAAGACTGTATAGAACAGATACAAATAGATGTATATTAATATTCTGCAACAGAGGGGGTATGGCTGGCAGGCAAAATAGAAGTAAGGAAAAGCTGGATTTGTGGAGGCCAAAGGTGCCCTCGAGGCTGCAGGTTGGTAAAGAGTTCATGTTGCCATCCAAACTATGACCCCTCTGCTTCTGTCCCTTGGTGTGGAACCATTCTCTGCAGAGATGAGCCCAGGCTGTGGCTGCAATGGGAGTGGCTTGCATGTCACTCACTGAAGCAGCAAAAGCAATCCACTGTCTGGATTGGTGATGAGCTGGGAATCTCTCAAGGGAGTGACCTAGGAGGCAGGTGGGCCAGAGGGGGCCAGAGGGAAATGAGATTGTTCTGTTCTTGCTCTTGCTCCCTCAGGGCCATGTCCTTTTGCCATGGTGCACTTCCTGGTCCTGAGCTGACCCTCACACAGGTGCCCACCCTGCATCCAGCAGTCATTAGTAGGTTCCCCCTCCCACTTTGTCATGAGAAAGGGATTTTCCCAGGATCGCTGTATTTATAGTGGAGAGAGGCCCCAGGACTGTAAGGAGTGGGGACCTCCTCCCCAGGAATCCCACTGAAAGCCCATGTCCCCTCAGGACCGAGCTCCTGCCCACTCAGAGGACTCGTGCTTTGAGCTGCCCCAGTGGGTGTGACAGGTTTGCTATAATCTAGGATTTCCCAGACTCACCTGCTGATCAGAATCCTGTAGGATGCTTGTTAGAAACAAAGATATCTGGGCCCCAAACTACAGCTAATGAATCACAATCTCAAGAGGAAAGGCCCTTAAAGAAACAATTCTTAGGACAGCGTAAACTTGGGAAACCACCAAGCCATGAACTCTCTCTTACCCGTGGGTGACCTAATTCCTGCCTCTGCTAGAAGGCTGCTGCCTATAGGCTGAGCTCAGACTGGCATTCATGGTGGGGGAAAAAAAGCTTTCTTTCTGTTTAGAGACCAACAGTGACAACAATGATTACCAACCTTTATCAACTATGTGCCAGGCACTCTACAGGGGGCTCTTTGGGGAAAGGTGGATCATGTCACGCAATCCTGCCATAGCCTAATGAAGCAAGGGCTACAACAATCTCCATTTTTTTGATGGGGATGCAGAAGGCAGGGAAGTGAAATGTCTTGCCCAGAGGCACATGCAGCAGGTAGCCGGCAGAGCTAGGTCGCGGGCTTCTGACCACTGTCCCCCTCTCTTCCCCAACAGATTAATCATCTTGAGACCTTGAATTAACTCCCTCCAGGGTGGCAACTCACACCACCACCAACACGCATCCCCCACGGGCAGGGAAAAAGAGCATAGAGTGGCAGCTCCTCTGAGAACCTGCAGTGGGCAGTTGTGAGAATGAGGCACGATGGGGAGGACAGCAAGGGGCAGAGTGCTGACCTCCCTCCTGTTGGCTCTCAGGTACTGGAACTCCTTGAGCAACCTGGTGGCATCCTTGCTGAACTCTGTGCGCTCCATCGCCTCCCTGCTCCTTCTCCTCTTCCTCTTCATCATCATCTTCTCCCTCCTGGGGATGCAGCTCTTTGGAGGAAAGTTCAACTTTGATGAGATGCAGACCCGGAGGAGCACATTCGATAACTTCCCCCAGTCCCTCCTCACTGTGTTTCAGGTATGGACTCTTCTCTGCTGGGATTCGGACTCGGGGTGGTTGAGTGGCGGGGTGGTGGGAGGAGTGTGGGAAGCTGCACCCTTTTACCGGGCAGCCACAGCCATCCTAGATCAGCCCTGGAGAGCCCATGCCCGGGAGAGTCTTGAGTTTTTTCTGTAGTTTCCCTGTCCCCATCTGCCATGGAATTCCACTAGTGGGTGGACCATTAGGGGAAACAATATAAGTGGTTTAAAAATGCCTTCTCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACACTCTAGCCTAGGTGACGGAGCAAGACTCCGTCTCAAATAAAAAAAAAAAAAATCGTTCTTATCCATGGAATCCTTTACTTAAATTCTCCATGAAAGCCCAAAACATAAAGAAAAGCAGACTGCTCTTACTGGGGGAGGGGAGGGTGACGAAACCCTGGCTTTCCTACCATGCTTGTCTCTTGAAAAAAATATTACTAGCCCATCAAATTTGTGATTTCATAGATATTTTGGCTTAGGGCAAACTCAAAGTGGCATCTATTTAAGTTTAAAAGCAGATCGATTGAGAGGTAAAAATGAATCACATGTAGATGTTGTCAAAGTCTTGAAGATGATGCCCCAGTGACGAATGTTTGGGGAAAGCTGGTGTAGCCTGTGGCTGTCTCAGCAAACACACAACTGCAAAAGGGTCCTGACGCCTTACCCCCAGGAATGGCTGACGGTCAGCTCAAGCATGTGTGGGGAAAGTCAGAGATCTTTGGGCCAAAAAGCCCTTTTAGTCACCCTTCAAATAATATTATGCCAATAGCCAGGCATTTTGTCTAAGGACAGTTCAATAGCTCAGAGCCCCTGGGGAGGAGAATTGGGGGCCAGGAGGAGGGAAAGAAGTGAAAGGGAAATTTTGGACAATTTTGTTGACGTAGTGGGGCAGGGCAGGGTGGTTTTGGGTTTGCTGTTGGTCTAACGCTGTGTCCCTTATTGGTGGGAATGTGTCATTCAGATCCTGACCGGGGAGGACTGGAATTCGGTGATGTATGATGGGATCATGGCTTATGGCGGCCCCTCTTTTCCAGGGATGTTAGTCTGTATTTACTTCATCATCCTCTTCATCTGTGGAAACTGTATCCTTTGCTGCTGCCCCCCACCCCTGCGGCCCCCAGCCCCCAGCCTGCAGCACAGTGCCAAACGGGCACGCCCCTCAGGTCCGGGCGGTCCTGCTCGGGCTCACACCACCCAGCCTAGAACCCCATGGCGGCGGAGGTGGGTCTGGGTGGAAACCTGCAGCTTTGGCATGGGTGAGGTTCACCTTCCTGAACCCTCCGGGCCCGCAGCGGCGCCGCGCTCCGGGCGGGCTGTCGCCGTAATCTGGGTGAGCGGCGCCCCCTGGCGTTGCGGCGTGTGCGGCCACTCACACCGCCTGCGATAGGGACGCGCGGGAGCGGGCCGGCTGCCCTGGGGCCGCGGCGTCTGCTCAGAGGCGGGACGCTCCGGGAGGGAGGATGAGCCGTTGTCCTTCAAGTGACCTTCAGCTCTCCTCCTGCTTTTTGGTCAGCAGCCCTCTCTCTGATGCTGCTCTCCAGGACTTTAGTCACGGGCAGAGCTGCACAGACTTCAAACAGCCCCAAAAGCTCCTTCCTGATCCCGGCTGGGGCAGGTTTCCAGGGCACAAGCCACGGGTGCTGCTTCTCTTCCCCAGCTCATAACCCCGAGAGAGTCACGTCCAGAGCCAGGGGTAACATAGGAACAGCTCTGGGCCAAGTCCCAGCTAAGGCAGTGCAGAAAACACAGTCATGGAAGCCTGCAGACAAGGTTTCCTCTTTTCCCAGCTGGATGACCTCTTGCAGATTG
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TTATTAATTAATTAATTAATATTTTAGGACAGGGTCTCACTCCGTCACCCAGGATGAAGGGCAATGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTTCCATCTCAGTCTCCCCAGTAGGTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTTAATTTTTTAAAGATGAGGTCTCACACTGCTGCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGACCTCCTAAAGTGACAATCCTCCCAAAGGGGGTTATAGGCATGAGCCACCACCATGCCCAGCCACCTCTACTGATGTTGATCACCGGGCAGGCTTGGGAAAACTGCTTTAGCTGTAAGAGGGGAGGGTGTTCTACCCCCAGAGAGGTTCTCTTACTTTTTCCTTTAAGCAGATCACTACAGCCTCTAGCCTGCAGGGGCTCCAGGCAGTCCATCACACATACTGGGTTGTACAGAATTTATATAAGGACAGAGTTGGGAAGCTGGAGGGGGACAAAACCCTGCAATCTTCTGCCGTCTAAAATTTAGAGCCTATTTTGGTGAGACAAGACTGTATAGAACAGATACAAATAGATGTATATTAATATTCTGCAACAGAGGGGGTATGGCTGGCAGGCAAAATAGAAGTAAGGAAAAGCTGGATTTGTGGAGGCCAAAGGTGCCCTCGAGGCTGCAGGTTGGTAAAGAGTTCATGTTGCCATCCAAACTATGACCCCTCTGCTTCTGTCCCTTGGTGTGGAACCATTCTCTGCAGAGATGAGCCCAGGCTGTGGCTGCAATGGGAGTGGCTTGCATGTCACTCACTGAAGCAGCAAAAGCAATCCACTGTCTGGATTGGTGATGAGCTGGGAATCTCTCAAGGGAGTGACCTAGGAGGCAGGTGGGCCAGAGGGGGCCAGAGGGAAATGAGATTGTTCTGTTCTTGCTCTTGCTCCCTCAGGGCCATGTCCTTTTGCCATGGTGCACTTCCTGGTCCTGAGCTGACCCTCACACAGGTGCCCACCCTGCATCCAGCAGTCATTAGTAGGTTCCCCCTCCCACTTTGTCATGAGAAAGGGATTTTCCCAGGATCGCTGTATTTATAGTGGAGAGAGGCCCCAGGACTGTAAGGAGTGGGGACCTCCTCCCCAGGAATCCCACTGAAAGCCCATGTCCCCTCAGGACCGAGCTCCTGCCCACTCAGAGGACTCGTGCTTTGAGCTGCCCCAGTGGGTGTGACAGGTTTGCTATAATCTAGGATTTCCCAGACTCACCTGCTGATCAGAATCCTGTAGGATGCTTGTTAGAAACAAAGATATCTGGGCCCCAAACTACAGCTAATGAATCACAATCTCAAGAGGAAAGGCCCTTAAAGAAACAATTCTTAGGACAGCGTAAACTTGGGAAACCACCAAGCCATGAACTCTCTCTTACCCGTGGGTGACCTAATTCCTGCCTCTGCTAGAAGGCTGCTGCCTATAGGCTGAGCTCAGACTGGCATTCATGGTGGGGGAAAAAAAGCTTTCTTTCTGTTTAGAGACCAACAGTGACAACAATGATTACCAACCTTTATCAACTATGTGCCAGGCACTCTACAGGGGGCTCTTTGGGGAAAGGTGGATCATGTCACGCAATCCTGCCATAGCCTAATGAAGCAAGGGCTACAACAATCTCCATTTTTTTGATGGGGATGCAGAAGGCAGGGAAGTGAAATGTCTTGCCCAGAGGCACATGCAGCAGGTAGCCGGCAGAGCTAGGTCGCGGGCTTCTGACCACTGTCCCCCTCTCTTCCCCAACAGATTAATCATCTTGAGACCTTGAATTAACTCCCTCCAGGGTGGCAACTCACACCACCACCAACACGCATCCCCCACGGGCAGGGAAAAAGAGCATAGAGTGGCAGCTCCTCTGAGAACCTGCAGTGGGCAGTTGTGAGAATGAGGCACGATGGGGAGGACAGCAAGGGGCAGAGTGCTGACCTCCCTCCTGTTGGCTCTCAGGTACTGGAACTCCTTGAGCAACCTGGTGGCATTCTTGCTGAACTCTGTGCGCTCCATCGCCTCCCTGCTCCTTCTCCTCTTCCTCTTCATCATCATCTTCTCCCTCCTGGGGATGCAGCTCTTTGGAGGAAAGTTCAACTTTGATGAGATGCAGACCCGGAGGAGCACATTCGATAACTTCCCCCAGTCCCTCCTCACTGTGTTTCAGGTATGGACTCTTCTCTGCTGGGATTCGGACTCGGGGTGGTTGAGTGGCGGGGTGGTGGGAGGAGTGTGGGAAGCTGCACCCTTTTACCGGGCAGCCACAGCCATCCTAGATCAGCCCTGGAGAGCCCATGCCCGGGAGAGTCTTGAGTTTTTTCTGTAGTTTCCCTGTCCCCATCTGCCATGGAATTCCACTAGTGGGTGGACCATTAGGGGAAACAATATAAGTGGTTTAAAAATGCCTTCTCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACACTCTAGCCTAGGTGACGGAGCAAGACTCCGTCTCAAATAAAAAAAAAAAAAATCGTTCTTATCCATGGAATCCTTTACTTAAATTCTCCATGAAAGCCCAAAACATAAAGAAAAGCAGACTGCTCTTACTGGGGGAGGGGAGGGTGACGAAACCCTGGCTTTCCTACCATGCTTGTCTCTTGAAAAAAATATTACTAGCCCATCAAATTTGTGATTTCATAGATATTTTGGCTTAGGGCAAACTCAAAGTGGCATCTATTTAAGTTTAAAAGCAGATCGATTGAGAGGTAAAAATGAATCACATGTAGATGTTGTCAAAGTCTTGAAGATGATGCCCCAGTGACGAATGTTTGGGGAAAGCTGGTGTAGCCTGTGGCTGTCTCAGCAAACACACAACTGCAAAAGGGTCCTGACGCCTTACCCCCAGGAATGGCTGACGGTCAGCTCAAGCATGTGTGGGGAAAGTCAGAGATCTTTGGGCCAAAAAGCCCTTTTAGTCACCCTTCAAATAATATTATGCCAATAGCCAGGCATTTTGTCTAAGGACAGTTCAATAGCTCAGAGCCCCTGGGGAGGAGAATTGGGGGCCAGGAGGAGGGAAAGAAGTGAAAGGGAAATTTTGGACAATTTTGTTGACGTAGTGGGGCAGGGCAGGGTGGTTTTGGGTTTGCTGTTGGTCTAACGCTGTGTCCCTTATTGGTGGGAATGTGTCATTCAGATCCTGACCGGGGAGGACTGGAATTCGGTGATGTATGATGGGATCATGGCTTATGGCGGCCCCTCTTTTCCAGGGATGTTAGTCTGTATTTACTTCATCATCCTCTTCATCTGTGGAAACTGTATCCTTTGCTGCTGCCCCCCACCCCTGCGGCCCCCAGCCCCCAGCCTGCAGCACAGTGCCAAACGGGCACGCCCCTCAGGTCCGGGCGGTCCTGCTCGGGCTCACACCACCCAGCCTAGAACCCCATGGCGGCGGAGGTGGGTCTGGGTGGAAACCTGCAGCTTTGGCATGGGTGAGGTTCACCTTCCTGAACCCTCCGGGCCCGCAGCGGCGCCGCGCTCCGGGCGGGCTGTCGCCGTAATCTGGGTGAGCGGCGCCCCCTGGCGTTGCGGCGTGTGCGGCCACTCACACCGCCTGCGATAGGGACGCGCGGGAGCGGGCCGGCTGCCCTGGGGCCGCGGCGTCTGCTCAGAGGCGGGACGCTCCGGGAGGGAGGATGAGCCGTTGTCCTTCAAGTGACCTTCAGCTCTCCTCCTGCTTTTTGGTCAGCAGCCCTCTCTCTGATGCTGCTCTCCAGGACTTTAGTCACGGGCAGAGCTGCACAGACTTCAAACAGCCCCAAAAGCTCCTTCCTGATCCCGGCTGGGGCAGGTTTCCAGGGCACAAGCCACGGGTGCTGCTTCTCTTCCCCAGCTCATAACCCCGAGAGAGTCACGTCCAGAGCCAGGGGTAACATAGGAACAGCTCTGGGCCAAGTCCCAGCTAAGGCAGTGCAGAAAACACAGTCATGGAAGCCTGCAGACAAGGTTTCCTCTTTTCCCAGCTGGATGACCTCTTGCAGATTG
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Task1_train_16930
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The gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
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CCGTCACCCAGGATGAAGGGCAATGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTTCCATCTCAGTCTCCCCAGTAGGTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTTAATTTTTTAAAGATGAGGTCTCACACTGCTGCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGACCTCCTAAAGTGACAATCCTCCCAAAGGGGGTTATAGGCATGAGCCACCACCATGCCCAGCCACCTCTACTGATGTTGATCACCGGGCAGGCTTGGGAAAACTGCTTTAGCTGTAAGAGGGGAGGGTGTTCTACCCCCAGAGAGGTTCTCTTACTTTTTCCTTTAAGCAGATCACTACAGCCTCTAGCCTGCAGGGGCTCCAGGCAGTCCATCACACATACTGGGTTGTACAGAATTTATATAAGGACAGAGTTGGGAAGCTGGAGGGGGACAAAACCCTGCAATCTTCTGCCGTCTAAAATTTAGAGCCTATTTTGGTGAGACAAGACTGTATAGAACAGATACAAATAGATGTATATTAATATTCTGCAACAGAGGGGGTATGGCTGGCAGGCAAAATAGAAGTAAGGAAAAGCTGGATTTGTGGAGGCCAAAGGTGCCCTCGAGGCTGCAGGTTGGTAAAGAGTTCATGTTGCCATCCAAACTATGACCCCTCTGCTTCTGTCCCTTGGTGTGGAACCATTCTCTGCAGAGATGAGCCCAGGCTGTGGCTGCAATGGGAGTGGCTTGCATGTCACTCACTGAAGCAGCAAAAGCAATCCACTGTCTGGATTGGTGATGAGCTGGGAATCTCTCAAGGGAGTGACCTAGGAGGCAGGTGGGCCAGAGGGGGCCAGAGGGAAATGAGATTGTTCTGTTCTTGCTCTTGCTCCCTCAGGGCCATGTCCTTTTGCCATGGTGCACTTCCTGGTCCTGAGCTGACCCTCACACAGGTGCCCACCCTGCATCCAGCAGTCATTAGTAGGTTCCCCCTCCCACTTTGTCATGAGAAAGGGATTTTCCCAGGATCGCTGTATTTATAGTGGAGAGAGGCCCCAGGACTGTAAGGAGTGGGGACCTCCTCCCCAGGAATCCCACTGAAAGCCCATGTCCCCTCAGGACCGAGCTCCTGCCCACTCAGAGGACTCGTGCTTTGAGCTGCCCCAGTGGGTGTGACAGGTTTGCTATAATCTAGGATTTCCCAGACTCACCTGCTGATCAGAATCCTGTAGGATGCTTGTTAGAAACAAAGATATCTGGGCCCCAAACTACAGCTAATGAATCACAATCTCAAGAGGAAAGGCCCTTAAAGAAACAATTCTTAGGACAGCGTAAACTTGGGAAACCACCAAGCCATGAACTCTCTCTTACCCGTGGGTGACCTAATTCCTGCCTCTGCTAGAAGGCTGCTGCCTATAGGCTGAGCTCAGACTGGCATTCATGGTGGGGGAAAAAAAGCTTTCTTTCTGTTTAGAGACCAACAGTGACAACAATGATTACCAACCTTTATCAACTATGTGCCAGGCACTCTACAGGGGGCTCTTTGGGGAAAGGTGGATCATGTCACGCAATCCTGCCATAGCCTAATGAAGCAAGGGCTACAACAATCTCCATTTTTTTGATGGGGATGCAGAAGGCAGGGAAGTGAAATGTCTTGCCCAGAGGCACATGCAGCAGGTAGCCGGCAGAGCTAGGTCGCGGGCTTCTGACCACTGTCCCCCTCTCTTCCCCAACAGATTAATCATCTTGAGACCTTGAATTAACTCCCTCCAGGGTGGCAACTCACACCACCACCAACACGCATCCCCCACGGGCAGGGAAAAAGAGCATAGAGTGGCAGCTCCTCTGAGAACCTGCAGTGGGCAGTTGTGAGAATGAGGCACGATGGGGAGGACAGCAAGGGGCAGAGTGCTGACCTCCCTCCTGTTGGCTCTCAGGTACTGGAACTCCTTGAGCAACCTGGTGGCATCCTTGCTGAACTCTGTGCGCTCCATCGCCTCCCTGCTCCTTCTCCTCTTCCTCTTCATCATCATCTTCTCCCTCCTGGGGATGCAGCTCTTTGGAGGAAAGTTCAACTTTGATGAGATGCAGACCCGGAGGAGCACATTCGATAACTTCCCCCAGTCCCTCCTCACTGTGTTTCAGGTATGGACTCTTCTCTGCTGGGATTCGGACTCGGGGTGGTTGAGTGGCGGGGTGGTGGGAGGAGTGTGGGAAGCTGCACCCTTTTACCGGGCAGCCACAGCCATCCTAGATCAGCCCTGGAGAGCCCATGCCCGGGAGAGTCTTGAGTTTTTTCTGTAGTTTCCCTGTCCCCATCTGCCATGGAATTCCACTAGTGGGTGGACCATTAGGGGAAACAATATAAGTGGTTTAAAAATGCCTTCTCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACACTCTAGCCTAGGTGACGGAGCAAGACTCCGTCTCAAATAAAAAAAAAAAAAATCGTTCTTATCCATGGAATCCTTTACTTAAATTCTCCATGAAAGCCCAAAACATAAAGAAAAGCAGACTGCTCTTACTGGGGGAGGGGAGGGTGACGAAACCCTGGCTTTCCTACCATGCTTGTCTCTTGAAAAAAATATTACTAGCCCATCAAATTTGTGATTTCATAGATATTTTGGCTTAGGGCAAACTCAAAGTGGCATCTATTTAAGTTTAAAAGCAGATCGATTGAGAGGTAAAAATGAATCACATGTAGATGTTGTCAAAGTCTTGAAGATGATGCCCCAGTGACGAATGTTTGGGGAAAGCTGGTGTAGCCTGTGGCTGTCTCAGCAAACACACAACTGCAAAAGGGTCCTGACGCCTTACCCCCAGGAATGGCTGACGGTCAGCTCAAGCATGTGTGGGGAAAGTCAGAGATCTTTGGGCCAAAAAGCCCTTTTAGTCACCCTTCAAATAATATTATGCCAATAGCCAGGCATTTTGTCTAAGGACAGTTCAATAGCTCAGAGCCCCTGGGGAGGAGAATTGGGGGCCAGGAGGAGGGAAAGAAGTGAAAGGGAAATTTTGGACAATTTTGTTGACGTAGTGGGGCAGGGCAGGGTGGTTTTGGGTTTGCTGTTGGTCTAACGCTGTGTCCCTTATTGGTGGGAATGTGTCATTCAGATCCTGACCGGGGAGGACTGGAATTCGGTGATGTATGATGGGATCATGGCTTATGGCGGCCCCTCTTTTCCAGGGATGTTAGTCTGTATTTACTTCATCATCCTCTTCATCTGTGGAAACTGTATCCTTTGCTGCTGCCCCCCACCCCTGCGGCCCCCAGCCCCCAGCCTGCAGCACAGTGCCAAACGGGCACGCCCCTCAGGTCCGGGCGGTCCTGCTCGGGCTCACACCACCCAGCCTAGAACCCCATGGCGGCGGAGGTGGGTCTGGGTGGAAACCTGCAGCTTTGGCATGGGTGAGGTTCACCTTCCTGAACCCTCCGGGCCCGCAGCGGCGCCGCGCTCCGGGCGGGCTGTCGCCGTAATCTGGGTGAGCGGCGCCCCCTGGCGTTGCGGCGTGTGCGGCCACTCACACCGCCTGCGATAGGGACGCGCGGGAGCGGGCCGGCTGCCCTGGGGCCGCGGCGTCTGCTCAGAGGCGGGACGCTCCGGGAGGGAGGATGAGCCGTTGTCCTTCAAGTGACCTTCAGCTCTCCTCCTGCTTTTTGGTCAGCAGCCCTCTCTCTGATGCTGCTCTCCAGGACTTTAGTCACGGGCAGAGCTGCACAGACTTCAAACAGCCCCAAAAGCTCCTTCCTGATCCCGGCTGGGGCAGGTTTCCAGGGCACAAGCCACGGGTGCTGCTTCTCTTCCCCAGCTCATAACCCCGAGAGAGTCACGTCCAGAGCCAGGGGTAACATAGGAACAGCTCTGGGCCAAGTCCCAGCTAAGGCAGTGCAGAAAACACAGTCATGGAAGCCTGCAGACAAGGTTTCCTCTTTTCCCAGCTGGATGACCTCTTGCAGATTGAAGGTCCTCTACCTCAGTGTCTGTAAAATGTGGCAATGGAA
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CCGTCACCCAGGATGAAGGGCAATGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTTCCATCTCAGTCTCCCCAGTAGGTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTTAATTTTTTAAAGATGAGGTCTCACACTGCTGCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGACCTCCTAAAGTGACAATCCTCCCAAAGGGGGTTATAGGCATGAGCCACCACCATGCCCAGCCACCTCTACTGATGTTGATCACCGGGCAGGCTTGGGAAAACTGCTTTAGCTGTAAGAGGGGAGGGTGTTCTACCCCCAGAGAGGTTCTCTTACTTTTTCCTTTAAGCAGATCACTACAGCCTCTAGCCTGCAGGGGCTCCAGGCAGTCCATCACACATACTGGGTTGTACAGAATTTATATAAGGACAGAGTTGGGAAGCTGGAGGGGGACAAAACCCTGCAATCTTCTGCCGTCTAAAATTTAGAGCCTATTTTGGTGAGACAAGACTGTATAGAACAGATACAAATAGATGTATATTAATATTCTGCAACAGAGGGGGTATGGCTGGCAGGCAAAATAGAAGTAAGGAAAAGCTGGATTTGTGGAGGCCAAAGGTGCCCTCGAGGCTGCAGGTTGGTAAAGAGTTCATGTTGCCATCCAAACTATGACCCCTCTGCTTCTGTCCCTTGGTGTGGAACCATTCTCTGCAGAGATGAGCCCAGGCTGTGGCTGCAATGGGAGTGGCTTGCATGTCACTCACTGAAGCAGCAAAAGCAATCCACTGTCTGGATTGGTGATGAGCTGGGAATCTCTCAAGGGAGTGACCTAGGAGGCAGGTGGGCCAGAGGGGGCCAGAGGGAAATGAGATTGTTCTGTTCTTGCTCTTGCTCCCTCAGGGCCATGTCCTTTTGCCATGGTGCACTTCCTGGTCCTGAGCTGACCCTCACACAGGTGCCCACCCTGCATCCAGCAGTCATTAGTAGGTTCCCCCTCCCACTTTGTCATGAGAAAGGGATTTTCCCAGGATCGCTGTATTTATAGTGGAGAGAGGCCCCAGGACTGTAAGGAGTGGGGACCTCCTCCCCAGGAATCCCACTGAAAGCCCATGTCCCCTCAGGACCGAGCTCCTGCCCACTCAGAGGACTCGTGCTTTGAGCTGCCCCAGTGGGTGTGACAGGTTTGCTATAATCTAGGATTTCCCAGACTCACCTGCTGATCAGAATCCTGTAGGATGCTTGTTAGAAACAAAGATATCTGGGCCCCAAACTACAGCTAATGAATCACAATCTCAAGAGGAAAGGCCCTTAAAGAAACAATTCTTAGGACAGCGTAAACTTGGGAAACCACCAAGCCATGAACTCTCTCTTACCCGTGGGTGACCTAATTCCTGCCTCTGCTAGAAGGCTGCTGCCTATAGGCTGAGCTCAGACTGGCATTCATGGTGGGGGAAAAAAAGCTTTCTTTCTGTTTAGAGACCAACAGTGACAACAATGATTACCAACCTTTATCAACTATGTGCCAGGCACTCTACAGGGGGCTCTTTGGGGAAAGGTGGATCATGTCACGCAATCCTGCCATAGCCTAATGAAGCAAGGGCTACAACAATCTCCATTTTTTTGATGGGGATGCAGAAGGCAGGGAAGTGAAATGTCTTGCCCAGAGGCACATGCAGCAGGTAGCCGGCAGAGCTAGGTCGCGGGCTTCTGACCACTGTCCCCCTCTCTTCCCCAACAGATTAATCATCTTGAGACCTTGAATTAACTCCCTCCAGGGTGGCAACTCACACCACCACCAACACGCATCCCCCACGGGCAGGGAAAAAGAGCATAGAGTGGCAGCTCCTCTGAGAACCTGCAGTGGGCAGTTGTGAGAATGAGGCACGATGGGGAGGACAGCAAGGGGCAGAGTGCTGACCTCCCTCCTGTTGGCTCTCAGGTACTGGAACTCCTTGAGCAACCTGGTGGCATCCTTGCTGAACTCTGTGCGCTCCATCGCCTCCCTGCTCCTTTTCCTCTTCCTCTTCATCATCATCTTCTCCCTCCTGGGGATGCAGCTCTTTGGAGGAAAGTTCAACTTTGATGAGATGCAGACCCGGAGGAGCACATTCGATAACTTCCCCCAGTCCCTCCTCACTGTGTTTCAGGTATGGACTCTTCTCTGCTGGGATTCGGACTCGGGGTGGTTGAGTGGCGGGGTGGTGGGAGGAGTGTGGGAAGCTGCACCCTTTTACCGGGCAGCCACAGCCATCCTAGATCAGCCCTGGAGAGCCCATGCCCGGGAGAGTCTTGAGTTTTTTCTGTAGTTTCCCTGTCCCCATCTGCCATGGAATTCCACTAGTGGGTGGACCATTAGGGGAAACAATATAAGTGGTTTAAAAATGCCTTCTCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACACTCTAGCCTAGGTGACGGAGCAAGACTCCGTCTCAAATAAAAAAAAAAAAAATCGTTCTTATCCATGGAATCCTTTACTTAAATTCTCCATGAAAGCCCAAAACATAAAGAAAAGCAGACTGCTCTTACTGGGGGAGGGGAGGGTGACGAAACCCTGGCTTTCCTACCATGCTTGTCTCTTGAAAAAAATATTACTAGCCCATCAAATTTGTGATTTCATAGATATTTTGGCTTAGGGCAAACTCAAAGTGGCATCTATTTAAGTTTAAAAGCAGATCGATTGAGAGGTAAAAATGAATCACATGTAGATGTTGTCAAAGTCTTGAAGATGATGCCCCAGTGACGAATGTTTGGGGAAAGCTGGTGTAGCCTGTGGCTGTCTCAGCAAACACACAACTGCAAAAGGGTCCTGACGCCTTACCCCCAGGAATGGCTGACGGTCAGCTCAAGCATGTGTGGGGAAAGTCAGAGATCTTTGGGCCAAAAAGCCCTTTTAGTCACCCTTCAAATAATATTATGCCAATAGCCAGGCATTTTGTCTAAGGACAGTTCAATAGCTCAGAGCCCCTGGGGAGGAGAATTGGGGGCCAGGAGGAGGGAAAGAAGTGAAAGGGAAATTTTGGACAATTTTGTTGACGTAGTGGGGCAGGGCAGGGTGGTTTTGGGTTTGCTGTTGGTCTAACGCTGTGTCCCTTATTGGTGGGAATGTGTCATTCAGATCCTGACCGGGGAGGACTGGAATTCGGTGATGTATGATGGGATCATGGCTTATGGCGGCCCCTCTTTTCCAGGGATGTTAGTCTGTATTTACTTCATCATCCTCTTCATCTGTGGAAACTGTATCCTTTGCTGCTGCCCCCCACCCCTGCGGCCCCCAGCCCCCAGCCTGCAGCACAGTGCCAAACGGGCACGCCCCTCAGGTCCGGGCGGTCCTGCTCGGGCTCACACCACCCAGCCTAGAACCCCATGGCGGCGGAGGTGGGTCTGGGTGGAAACCTGCAGCTTTGGCATGGGTGAGGTTCACCTTCCTGAACCCTCCGGGCCCGCAGCGGCGCCGCGCTCCGGGCGGGCTGTCGCCGTAATCTGGGTGAGCGGCGCCCCCTGGCGTTGCGGCGTGTGCGGCCACTCACACCGCCTGCGATAGGGACGCGCGGGAGCGGGCCGGCTGCCCTGGGGCCGCGGCGTCTGCTCAGAGGCGGGACGCTCCGGGAGGGAGGATGAGCCGTTGTCCTTCAAGTGACCTTCAGCTCTCCTCCTGCTTTTTGGTCAGCAGCCCTCTCTCTGATGCTGCTCTCCAGGACTTTAGTCACGGGCAGAGCTGCACAGACTTCAAACAGCCCCAAAAGCTCCTTCCTGATCCCGGCTGGGGCAGGTTTCCAGGGCACAAGCCACGGGTGCTGCTTCTCTTCCCCAGCTCATAACCCCGAGAGAGTCACGTCCAGAGCCAGGGGTAACATAGGAACAGCTCTGGGCCAAGTCCCAGCTAAGGCAGTGCAGAAAACACAGTCATGGAAGCCTGCAGACAAGGTTTCCTCTTTTCCCAGCTGGATGACCTCTTGCAGATTGAAGGTCCTCTACCTCAGTGTCTGTAAAATGTGGCAATGGAA
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Task1_train_16931
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A variant was discovered in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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GCCCACTCAGAGGACTCGTGCTTTGAGCTGCCCCAGTGGGTGTGACAGGTTTGCTATAATCTAGGATTTCCCAGACTCACCTGCTGATCAGAATCCTGTAGGATGCTTGTTAGAAACAAAGATATCTGGGCCCCAAACTACAGCTAATGAATCACAATCTCAAGAGGAAAGGCCCTTAAAGAAACAATTCTTAGGACAGCGTAAACTTGGGAAACCACCAAGCCATGAACTCTCTCTTACCCGTGGGTGACCTAATTCCTGCCTCTGCTAGAAGGCTGCTGCCTATAGGCTGAGCTCAGACTGGCATTCATGGTGGGGGAAAAAAAGCTTTCTTTCTGTTTAGAGACCAACAGTGACAACAATGATTACCAACCTTTATCAACTATGTGCCAGGCACTCTACAGGGGGCTCTTTGGGGAAAGGTGGATCATGTCACGCAATCCTGCCATAGCCTAATGAAGCAAGGGCTACAACAATCTCCATTTTTTTGATGGGGATGCAGAAGGCAGGGAAGTGAAATGTCTTGCCCAGAGGCACATGCAGCAGGTAGCCGGCAGAGCTAGGTCGCGGGCTTCTGACCACTGTCCCCCTCTCTTCCCCAACAGATTAATCATCTTGAGACCTTGAATTAACTCCCTCCAGGGTGGCAACTCACACCACCACCAACACGCATCCCCCACGGGCAGGGAAAAAGAGCATAGAGTGGCAGCTCCTCTGAGAACCTGCAGTGGGCAGTTGTGAGAATGAGGCACGATGGGGAGGACAGCAAGGGGCAGAGTGCTGACCTCCCTCCTGTTGGCTCTCAGGTACTGGAACTCCTTGAGCAACCTGGTGGCATCCTTGCTGAACTCTGTGCGCTCCATCGCCTCCCTGCTCCTTCTCCTCTTCCTCTTCATCATCATCTTCTCCCTCCTGGGGATGCAGCTCTTTGGAGGAAAGTTCAACTTTGATGAGATGCAGACCCGGAGGAGCACATTCGATAACTTCCCCCAGTCCCTCCTCACTGTGTTTCAGGTATGGACTCTTCTCTGCTGGGATTCGGACTCGGGGTGGTTGAGTGGCGGGGTGGTGGGAGGAGTGTGGGAAGCTGCACCCTTTTACCGGGCAGCCACAGCCATCCTAGATCAGCCCTGGAGAGCCCATGCCCGGGAGAGTCTTGAGTTTTTTCTGTAGTTTCCCTGTCCCCATCTGCCATGGAATTCCACTAGTGGGTGGACCATTAGGGGAAACAATATAAGTGGTTTAAAAATGCCTTCTCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACACTCTAGCCTAGGTGACGGAGCAAGACTCCGTCTCAAATAAAAAAAAAAAAAATCGTTCTTATCCATGGAATCCTTTACTTAAATTCTCCATGAAAGCCCAAAACATAAAGAAAAGCAGACTGCTCTTACTGGGGGAGGGGAGGGTGACGAAACCCTGGCTTTCCTACCATGCTTGTCTCTTGAAAAAAATATTACTAGCCCATCAAATTTGTGATTTCATAGATATTTTGGCTTAGGGCAAACTCAAAGTGGCATCTATTTAAGTTTAAAAGCAGATCGATTGAGAGGTAAAAATGAATCACATGTAGATGTTGTCAAAGTCTTGAAGATGATGCCCCAGTGACGAATGTTTGGGGAAAGCTGGTGTAGCCTGTGGCTGTCTCAGCAAACACACAACTGCAAAAGGGTCCTGACGCCTTACCCCCAGGAATGGCTGACGGTCAGCTCAAGCATGTGTGGGGAAAGTCAGAGATCTTTGGGCCAAAAAGCCCTTTTAGTCACCCTTCAAATAATATTATGCCAATAGCCAGGCATTTTGTCTAAGGACAGTTCAATAGCTCAGAGCCCCTGGGGAGGAGAATTGGGGGCCAGGAGGAGGGAAAGAAGTGAAAGGGAAATTTTGGACAATTTTGTTGACGTAGTGGGGCAGGGCAGGGTGGTTTTGGGTTTGCTGTTGGTCTAACGCTGTGTCCCTTATTGGTGGGAATGTGTCATTCAGATCCTGACCGGGGAGGACTGGAATTCGGTGATGTATGATGGGATCATGGCTTATGGCGGCCCCTCTTTTCCAGGGATGTTAGTCTGTATTTACTTCATCATCCTCTTCATCTGTGGAAACTGTATCCTTTGCTGCTGCCCCCCACCCCTGCGGCCCCCAGCCCCCAGCCTGCAGCACAGTGCCAAACGGGCACGCCCCTCAGGTCCGGGCGGTCCTGCTCGGGCTCACACCACCCAGCCTAGAACCCCATGGCGGCGGAGGTGGGTCTGGGTGGAAACCTGCAGCTTTGGCATGGGTGAGGTTCACCTTCCTGAACCCTCCGGGCCCGCAGCGGCGCCGCGCTCCGGGCGGGCTGTCGCCGTAATCTGGGTGAGCGGCGCCCCCTGGCGTTGCGGCGTGTGCGGCCACTCACACCGCCTGCGATAGGGACGCGCGGGAGCGGGCCGGCTGCCCTGGGGCCGCGGCGTCTGCTCAGAGGCGGGACGCTCCGGGAGGGAGGATGAGCCGTTGTCCTTCAAGTGACCTTCAGCTCTCCTCCTGCTTTTTGGTCAGCAGCCCTCTCTCTGATGCTGCTCTCCAGGACTTTAGTCACGGGCAGAGCTGCACAGACTTCAAACAGCCCCAAAAGCTCCTTCCTGATCCCGGCTGGGGCAGGTTTCCAGGGCACAAGCCACGGGTGCTGCTTCTCTTCCCCAGCTCATAACCCCGAGAGAGTCACGTCCAGAGCCAGGGGTAACATAGGAACAGCTCTGGGCCAAGTCCCAGCTAAGGCAGTGCAGAAAACACAGTCATGGAAGCCTGCAGACAAGGTTTCCTCTTTTCCCAGCTGGATGACCTCTTGCAGATTGAAGGTCCTCTACCTCAGTGTCTGTAAAATGTGGCAATGGAATCATAGAACCTACTACATAAAGGGTCGTTGGGAGTTTTCATGGGATCATGCATGCAAGGCCTCTGCCACATTCAGAAGCCACCCTGGACAAAGCCCCTCTTCCCCAGCCTGGGTTGCTGCGGCTTCCCTGTGTGTGAAATGATATGAATGTCTGGGTGCCTGGGGCCGGGGGTCAGACTTCACAGACTTAAAGCCCCCTTCCAGCTATGCTTTCGTTGATTCTGCAGTTCTCTGACCCACAGTGTTTCTGTTGGTGGAGTGGGGAGGAGAAAGGGCAAAGAACTGTCTCCACTGGGAACTCCCAAGCCTTGGCTGGCTCCAGATGGACCCTCCAAGGGTCTTCGTGGGTGCAGGCTCACATTAAGAGTTGGCAGAGATACCAAGCCACCCCCTCAGCGCCCAGTTATAATAAACCGCTCTTAAGAGCGTTCTGCATCCTGCTAGAGACAATGCTGTTTATAATGTCAATTACAGCCAGTCATCTCAGCAGGGAAAGCAATCATGAAACCCAGCAATTAAAGTGCAAGGCAGGGCTTGCTGCCTCCCTCCCGCCTGCTCCAGTGTGCAGGCTAGCCTGTTCTCATCCCTCTTGATAGCTCCAGGTAGCTAGGAGGGTGATGGGGAGGAAGGGGAGGGGAGGAACACTGTTGGGGTCTGACTCCCTCAAATTGCTTCCCCCTCAAGCTCTCTCTGCTGAGGAGCTCTACCCTGCACGCCCCACATCCCCCGTGCCCCTGTGCCCACCAAAACCCCAAACCAAGGGTCATTTTCTTTAAGAATGGACACAAACAGATATCCTACTGAATGTGTTCTTGGCCATTGCTGTGGACAACCTGGCTGATGCTGAGAGCCTCACATCTGCCCAAAAGGAGGAGGAAGAGGAGAAGGAGAGAAAGAAGCTGGCCAGGTAACCCTCTAAGCTTGCCCAGGCCTGGGGCTCCAGGGCTCCCATTGTGGAATGTCTTCCCACTGGTGGCAGAGAGAGGCTTGACTGCTAGCCTCTGTTGGCTCTCCCTCCTAGGAGGACTCTGGGTTTGGGGCTTCCTAAGTTGGGCCTCTCTCCTAATTCCTAAGCATCACTCTGGTAGGGACCATCATGAATTATAATAATCTCTGCAATGGTGTCATATTCTCCACCTGCTGGGATTATCTTTTGAGAAGCTGTGATA
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GCCCACTCAGAGGACTCGTGCTTTGAGCTGCCCCAGTGGGTGTGACAGGTTTGCTATAATCTAGGATTTCCCAGACTCACCTGCTGATCAGAATCCTGTAGGATGCTTGTTAGAAACAAAGATATCTGGGCCCCAAACTACAGCTAATGAATCACAATCTCAAGAGGAAAGGCCCTTAAAGAAACAATTCTTAGGACAGCGTAAACTTGGGAAACCACCAAGCCATGAACTCTCTCTTACCCGTGGGTGACCTAATTCCTGCCTCTGCTAGAAGGCTGCTGCCTATAGGCTGAGCTCAGACTGGCATTCATGGTGGGGGAAAAAAAGCTTTCTTTCTGTTTAGAGACCAACAGTGACAACAATGATTACCAACCTTTATCAACTATGTGCCAGGCACTCTACAGGGGGCTCTTTGGGGAAAGGTGGATCATGTCACGCAATCCTGCCATAGCCTAATGAAGCAAGGGCTACAACAATCTCCATTTTTTTGATGGGGATGCAGAAGGCAGGGAAGTGAAATGTCTTGCCCAGAGGCACATGCAGCAGGTAGCCGGCAGAGCTAGGTCGCGGGCTTCTGACCACTGTCCCCCTCTCTTCCCCAACAGATTAATCATCTTGAGACCTTGAATTAACTCCCTCCAGGGTGGCAACTCACACCACCACCAACACGCATCCCCCACGGGCAGGGAAAAAGAGCATAGAGTGGCAGCTCCTCTGAGAACCTGCAGTGGGCAGTTGTGAGAATGAGGCACGATGGGGAGGACAGCAAGGGGCAGAGTGCTGACCTCCCTCCTGTTGGCTCTCAGGTACTGGAACTCCTTGAGCAACCTGGTGGCATCCTTGCTGAACTCTGTGCGCTCCATCGCCTCCCTGCTCCTTCTCCTCTTCCTCTTCATCATCATCTTCTCCCTCCTGGGGATGCAGCTCTTTGGAGGAAAGTTCAACTTTGATGAGATGCAGACCCGGAGGAGCACATTCGATAACTTCCCCCAGTCCCTCCTCACTGTGTTTCAGGTATGGACTCTTCTCTGCTGGGATTCGGACTCGGGGTGGTTGAGTGGCGGGGTGGTGGGAGGAGTGTGGGAAGCTGCACCCTTTTACCGGGCAGCCACAGCCATCCTAGATCAGCCCTGGAGAGCCCATGCCCGGGAGAGTCTTGAGTTTTTTCTGTAGTTTCCCTGTCCCCATCTGCCATGGAATTCCACTAGTGGGTGGACCATTAGGGGAAACAATATAAGTGGTTTAAAAATGCCTTCTCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACACTCTAGCCTAGGTGACGGAGCAAGACTCCGTCTCAAATAAAAAAAAAAAAAATCGTTCTTATCCATGGAATCCTTTACTTAAATTCTCCATGAAAGCCCAAAACATAAAGAAAAGCAGACTGCTCTTACTGGGGGAGGGGAGGGTGACGAAACCCTGGCTTTCCTACCATGCTTGTCTCTTGAAAAAAATATTACTAGCCCATCAAATTTGTGATTTCATAGATATTTTGGCTTAGGGCAAACTCAAAGTGGCATCTATTTAAGTTTAAAAGCAGATCGATTGAGAGGTAAAAATGAATCACATGTAGATGTTGTCAAAGTCTTGAAGATGATGCCCCAGTGACGAATGTTTGGGGAAAGCTGGTGTAGCCTGTGGCTGTCTCAGCAAACACACAACTGCAAAAGGGTCCTGACGCCTTACCCCCAGGAATGGCTGACGGTCAGCTCAAGCATGTGTGGGGAAAGTCAGAGATCTTTGGGCCAAAAAGCCCTTTTAGTCACCCTTCAAATAATATTATGCCAATAGCCAGGCATTTTGTCTAAGGACAGTTCAATAGCTCAGAGCCCCTGGGGAGGAGAATTGGGGGCCAGGAGGAGGGAAAGAAGTGAAAGGGAAATTTTGGACAATTTTGTTGACGTAGTGGGGCAGGGCAGGGTGGTTTTGGGTTTGCTGTTGGTCTAACGCTGTGTCCCTTATTGGTGGGAATGTGTCATTCAGATCCTGACCGAGGAGGACTGGAATTCGGTGATGTATGATGGGATCATGGCTTATGGCGGCCCCTCTTTTCCAGGGATGTTAGTCTGTATTTACTTCATCATCCTCTTCATCTGTGGAAACTGTATCCTTTGCTGCTGCCCCCCACCCCTGCGGCCCCCAGCCCCCAGCCTGCAGCACAGTGCCAAACGGGCACGCCCCTCAGGTCCGGGCGGTCCTGCTCGGGCTCACACCACCCAGCCTAGAACCCCATGGCGGCGGAGGTGGGTCTGGGTGGAAACCTGCAGCTTTGGCATGGGTGAGGTTCACCTTCCTGAACCCTCCGGGCCCGCAGCGGCGCCGCGCTCCGGGCGGGCTGTCGCCGTAATCTGGGTGAGCGGCGCCCCCTGGCGTTGCGGCGTGTGCGGCCACTCACACCGCCTGCGATAGGGACGCGCGGGAGCGGGCCGGCTGCCCTGGGGCCGCGGCGTCTGCTCAGAGGCGGGACGCTCCGGGAGGGAGGATGAGCCGTTGTCCTTCAAGTGACCTTCAGCTCTCCTCCTGCTTTTTGGTCAGCAGCCCTCTCTCTGATGCTGCTCTCCAGGACTTTAGTCACGGGCAGAGCTGCACAGACTTCAAACAGCCCCAAAAGCTCCTTCCTGATCCCGGCTGGGGCAGGTTTCCAGGGCACAAGCCACGGGTGCTGCTTCTCTTCCCCAGCTCATAACCCCGAGAGAGTCACGTCCAGAGCCAGGGGTAACATAGGAACAGCTCTGGGCCAAGTCCCAGCTAAGGCAGTGCAGAAAACACAGTCATGGAAGCCTGCAGACAAGGTTTCCTCTTTTCCCAGCTGGATGACCTCTTGCAGATTGAAGGTCCTCTACCTCAGTGTCTGTAAAATGTGGCAATGGAATCATAGAACCTACTACATAAAGGGTCGTTGGGAGTTTTCATGGGATCATGCATGCAAGGCCTCTGCCACATTCAGAAGCCACCCTGGACAAAGCCCCTCTTCCCCAGCCTGGGTTGCTGCGGCTTCCCTGTGTGTGAAATGATATGAATGTCTGGGTGCCTGGGGCCGGGGGTCAGACTTCACAGACTTAAAGCCCCCTTCCAGCTATGCTTTCGTTGATTCTGCAGTTCTCTGACCCACAGTGTTTCTGTTGGTGGAGTGGGGAGGAGAAAGGGCAAAGAACTGTCTCCACTGGGAACTCCCAAGCCTTGGCTGGCTCCAGATGGACCCTCCAAGGGTCTTCGTGGGTGCAGGCTCACATTAAGAGTTGGCAGAGATACCAAGCCACCCCCTCAGCGCCCAGTTATAATAAACCGCTCTTAAGAGCGTTCTGCATCCTGCTAGAGACAATGCTGTTTATAATGTCAATTACAGCCAGTCATCTCAGCAGGGAAAGCAATCATGAAACCCAGCAATTAAAGTGCAAGGCAGGGCTTGCTGCCTCCCTCCCGCCTGCTCCAGTGTGCAGGCTAGCCTGTTCTCATCCCTCTTGATAGCTCCAGGTAGCTAGGAGGGTGATGGGGAGGAAGGGGAGGGGAGGAACACTGTTGGGGTCTGACTCCCTCAAATTGCTTCCCCCTCAAGCTCTCTCTGCTGAGGAGCTCTACCCTGCACGCCCCACATCCCCCGTGCCCCTGTGCCCACCAAAACCCCAAACCAAGGGTCATTTTCTTTAAGAATGGACACAAACAGATATCCTACTGAATGTGTTCTTGGCCATTGCTGTGGACAACCTGGCTGATGCTGAGAGCCTCACATCTGCCCAAAAGGAGGAGGAAGAGGAGAAGGAGAGAAAGAAGCTGGCCAGGTAACCCTCTAAGCTTGCCCAGGCCTGGGGCTCCAGGGCTCCCATTGTGGAATGTCTTCCCACTGGTGGCAGAGAGAGGCTTGACTGCTAGCCTCTGTTGGCTCTCCCTCCTAGGAGGACTCTGGGTTTGGGGCTTCCTAAGTTGGGCCTCTCTCCTAATTCCTAAGCATCACTCTGGTAGGGACCATCATGAATTATAATAATCTCTGCAATGGTGTCATATTCTCCACCTGCTGGGATTATCTTTTGAGAAGCTGTGATA
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Task1_train_16932
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This alteration in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Long QT syndrome
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GCTGCGGCTTCCCTGTGTGTGAAATGATATGAATGTCTGGGTGCCTGGGGCCGGGGGTCAGACTTCACAGACTTAAAGCCCCCTTCCAGCTATGCTTTCGTTGATTCTGCAGTTCTCTGACCCACAGTGTTTCTGTTGGTGGAGTGGGGAGGAGAAAGGGCAAAGAACTGTCTCCACTGGGAACTCCCAAGCCTTGGCTGGCTCCAGATGGACCCTCCAAGGGTCTTCGTGGGTGCAGGCTCACATTAAGAGTTGGCAGAGATACCAAGCCACCCCCTCAGCGCCCAGTTATAATAAACCGCTCTTAAGAGCGTTCTGCATCCTGCTAGAGACAATGCTGTTTATAATGTCAATTACAGCCAGTCATCTCAGCAGGGAAAGCAATCATGAAACCCAGCAATTAAAGTGCAAGGCAGGGCTTGCTGCCTCCCTCCCGCCTGCTCCAGTGTGCAGGCTAGCCTGTTCTCATCCCTCTTGATAGCTCCAGGTAGCTAGGAGGGTGATGGGGAGGAAGGGGAGGGGAGGAACACTGTTGGGGTCTGACTCCCTCAAATTGCTTCCCCCTCAAGCTCTCTCTGCTGAGGAGCTCTACCCTGCACGCCCCACATCCCCCGTGCCCCTGTGCCCACCAAAACCCCAAACCAAGGGTCATTTTCTTTAAGAATGGACACAAACAGATATCCTACTGAATGTGTTCTTGGCCATTGCTGTGGACAACCTGGCTGATGCTGAGAGCCTCACATCTGCCCAAAAGGAGGAGGAAGAGGAGAAGGAGAGAAAGAAGCTGGCCAGGTAACCCTCTAAGCTTGCCCAGGCCTGGGGCTCCAGGGCTCCCATTGTGGAATGTCTTCCCACTGGTGGCAGAGAGAGGCTTGACTGCTAGCCTCTGTTGGCTCTCCCTCCTAGGAGGACTCTGGGTTTGGGGCTTCCTAAGTTGGGCCTCTCTCCTAATTCCTAAGCATCACTCTGGTAGGGACCATCATGAATTATAATAATCTCTGCAATGGTGTCATATTCTCCACCTGCTGGGATTATCTTTTGAGAAGCTGTGATAGGTGGCAGGAGTGTAGGGTGGGGAGAGAGAAAGGTAACCACTCAGTTGGGAAACGCAGCTCCAGCTTACAGAGGGAGTCCTCCTCACTACTTTATAATTCATCTCCAGTGTTAGGAAGGCAAGACGGGGCCCTATGTTGTATCCTATCATTATCTAGACGGGACAGTTCCAGGCCACACAGCTGCCGGGCACTGAGCAGAGCTCCTCCAGGAGCCAATCCTAGATGAGATCCACCATCCTTTTCTGCTTTGGCGACCCAGGCATCTCTGGAGCTGCAAGAGGCCAATTGCGTGTCAGGCAGAGCAGGTGTAGCTCAGCCCCATAGCACTTGTGACTGAGCTGCACACGAGAAGCGTCCTGGAGAAAGGAAGATGGACTCAGACCCAGGGGATCTGTCCCCTCTGGCCCCAACAGGCCACAGGGCGGTTCCCTCCTACACTGTTCCCTATCACTCCAGTAAACAGCCATTTATTTTTTTCTGCTGCTGACTGGCCAGGACTGCCAGCCCAGAGAAGAAACAAGAGTTGGTGGAGAAGCCGGCAGTGGGGGAATCCAAGGAGGAGAAGATTGAGCTGAAATCCATCACGGCTGACGGAGAGTCTCCACCCGCCACCAAGGTGAGGAGCTGTCTCCTTCCTGGAGCTGTGAGGCCGGTGCTGGGGAGGGAGGGCCACAGCCTTCCCAGGCCAGAACCCTGTGGAGAAGAGGAGAGAAAGAAAGACACCCAGTGGAAAGAAAGCCAGTGGGGATGAACAGGAGAGCTGGGAGGGGGAAGATAAGGCAGATTGGCTGGATCCCAGCCATCTGCTGATGTCTTGAAGGAGATATGCAAAGTGACAAGTACCTATTTTTGAGCTAAGTCACTGACTAAAATGCAACTTCAAGGCTACTGCAAGCCTCTTAACTTGGGGACGTATCTAACTATTCTTCCCCCTTCTCCCCTGTGACTGTCTAGATCAACATGGATGACCTCCAGCCCAATGAAAATGAGGATAAGAGCCCCTACCCCAACCCAGAAACTACAGGTACCAGTCCCACTGCCTAACCTGGGATTGGGAGATTGGGGGCAGAGATCTAAATTCTAAAGCCACGTGGGAGTGGCCATATATTAGGGACCATGGTTCCAGTGTCCCTCTGTAAGTACCTTCCACTGCTGAGTGTCTTCTATCTCTATATTTAAGCATCATCAGTCAGCATCTGGGAGGCAGGTTTGTTTCTGGTTTCCTCATAATGAGATCACATTTGAGCAGTGCTTTTGTGTCCTTTCCAAGTTGGATTCAGTGTACATTTAAATTTTTGTTACATTACATGTTGTAAAATCATCATTAATTTATATAATGTATTAGTATGGCATATGTTGCAACATTATGCTCACTTAATATTAATAGTCAATCCCAAGTCTGCCTTGCCCCTACTCAGGAGGCAGTGCCGAGTGCAGGGACAGCTGCCACCACAGATGTCCCACTTGTTGCTTTAGGCAATGATTTCAGGTCTCATTATAAAAGGCGCGCTTACTGACTCCATCTTTTTATGCTTCTATCTGATACCTAAATTGGCAGGCAGTCTGCTTCTCAAGAGCTTTAATGTCAGAGATCAGAGGTCCTCCCTCCAGGCTTCACTTCCCTGCTCCCTGAAATCCCATACCCTGTGCAAGGCCTGGGCTTGCCTTCCTCTGACCTAGGATTGCAGATATTATCGCCAGTTTCAAGCTTGAAGTCAATAACATGCTATCAAGGGACTGTTGATTTTACTGACATTTCCTTGTTCCTGTAGGTTAGGCTATATTTGGGTTGTTCACCAAGTTAGGTGGCTGAGAACCTCCTACATTTATGAGCAAAGCTCGGTTTCCCTTTTTGCTTTCCCTCCGCTGGTTCTCTGCTTAGAACACTCACAGGCATCCTTGGGAACCAGACTCCCTGTGGTCACACCATCCTCACTCCCCTCCTCCTGCAAGGGAATAGGATGTGGTTTCCTGGAGCTTGGATAGAAAGAACAGGAAGGGCGTTTTCATATGCCCGGCATTAAGGCTTTGAAGTTCTTAAAACCCCTTCTAGGGTGAAACCGTTAGGGAATTTCAACGACGTACTAGAATTATTGAACAAATGCAATGGGAGGATCTTGCCTTGATCCTGAAGCAACAAATACACTTTAAAATGACGTTTTAGAGGGAAATGGGGGAAATTGAATATGGACTGGGAACTAAATGATTGAAAGTAGTTTTGTTAATCTTGTTGGTATAATATTTTGTAGTTCTGTTTTTAAACTGCTGCAGTGTTTATGGCCAGAGTCTAAATGTTTACGAGTTGCTTTGCTTTTAAAATATTCCAACAAAAAAAAAATGGGGACAGAGAAGATAAATGGAACAAGATTAGCAAAATGTCCAAAGTTGTTGAAGCTGGTTATATATATGAGGTTTAGTATGTGAGACTGTACTCTTGTGTAAATCTTTAAGGTTTAAAATGAAAGACAGTAATAAAACAAATTCCTTAGAGCCCTGAGAAGAGCCCTCCCATGGGGCCAGCCTCCAGGATGGGCCTCCCTGCACACACAACAGGGCAGATCTAGCATGAGGGTCTTTTCACACAGGCACCCAGCTGCAGCCAGGCCTGTACGGCAGATACACCTCTTGCATCTTCAACAAAAATCTCAAATTCTATTAATCTATACTCTTGGCTTTTCTTTTCTTTGTTGCTCTAATGAAATCAAAGAGAAGAATGTTAATTTTAAAAAAAAAGGGCTAATGAGGATTTTGTCACCAGGTCGGCCATCCTAGAAATGCCTCTCACGTAGCTACCCAGTGGCTCTGAGGACTGGGGGATGCTTACGCTTTCCAGCTGAAAAGCTCTTCCCACCCTCTGCTGAGGCCTCAGGATTCTTGAGATTTTTGAGTGTACGGCCCGCTCCCCGTCATTTCTGTTGGTTACATGTGTCTCTTTACTTTCGTGTTGAGACCTCTGGTCCATACCCTGAGGCTGCCCTGACTGCCCCACCACGTACACCAGCCACCACTCCGGCCTCTGAAGCCAGCCCCAAGCATGCCCA
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GCTGCGGCTTCCCTGTGTGTGAAATGATATGAATGTCTGGGTGCCTGGGGCCGGGGGTCAGACTTCACAGACTTAAAGCCCCCTTCCAGCTATGCTTTCGTTGATTCTGCAGTTCTCTGACCCACAGTGTTTCTGTTGGTGGAGTGGGGAGGAGAAAGGGCAAAGAACTGTCTCCACTGGGAACTCCCAAGCCTTGGCTGGCTCCAGATGGACCCTCCAAGGGTCTTCGTGGGTGCAGGCTCACATTAAGAGTTGGCAGAGATACCAAGCCACCCCCTCAGCGCCCAGTTATAATAAACCGCTCTTAAGAGCGTTCTGCATCCTGCTAGAGACAATGCTGTTTATAATGTCAATTACAGCCAGTCATCTCAGCAGGGAAAGCAATCATGAAACCCAGCAATTAAAGTGCAAGGCAGGGCTTGCTGCCTCCCTCCCGCCTGCTCCAGTGTGCAGGCTAGCCTGTTCTCATCCCTCTTGATAGCTCCAGGTAGCTAGGAGGGTGATGGGGAGGAAGGGGAGGGGAGGAACACTGTTGGGGTCTGACTCCCTCAAATTGCTTCCCCCTCAAGCTCTCTCTGCTGAGGAGCTCTACCCTGCACGCCCCACATCCCCCGTGCCCCTGTGCCCACCAAAACCCCAAACCAAGGGTCATTTTCTTTAAGAATGGACACAAACAGATATCCTACTGAATGTGTTCTTGGCCATTGCTGTGGACAACCTGGCTGATGCTGAGAGCCTCACATCTGCCCAAAAGGAGGAGGAAGAGGAGAAGGAGAGAAAGAAGCTGGCCAGGTAACCCTCTAAGCTTGCCCAGGCCTGGGGCTCCAGGGCTCCCATTGTGGAATGTCTTCCCACTGGTGGCAGAGAGAGGCTTGACTGCTAGCCTCTGTTGGCTCTCCCTCCTAGGAGGACTCTGGGTTTGGGGCTTCCTAAGTTGGGCCTCTCTCCTAATTCCTAAGCATCACTCTGGTAGGGACCATCATGAATTATAATAATCTCTGCAATGGTGTCATATTCTCCACCTGCTGGGATTATCTTTTGAGAAGCTGTGATAGGTGGCAGGAGTGTAGGGTGGGGAGAGAGAAAGGTAACCACTCAGTTGGGAAACGCAGCTCCAGCTTACAGAGGGAGTCCTCCTCACTACTTTATAATTCATCTCCAGTGTTAGGAAGGCAAGACGGGGCCCTATGTTGTATCCTATCATTATCTAGACGGGACAGTTCCAGGCCACACAGCTGCCGGGCACTGAGCAGAGCTCCTCCAGGAGCCAATCCTAGATGAGATCCACCATCCTTTTCTGCTTTGGCGACCCAGGCATCTCTGGAGCTGCAAGAGGCCAATTGCGTGTCAGGCAGAGCAGGTGTAGCTCAGCCCCATAGCACTTGTGACTGAGCTGCACACGAGAAGCGTCCTGGAGAAAGGAAGATGGACTCAGACCCAGGGGATCTGTCCCCTCTGGCCCCAACAGGCCACAGGGCGGTTCCCTCCTACACTGTTCCCTATCACTCCAGTAAACAGCCATTTATTTTTTTCTGCTGCTGACTGGCCAGGACTGCCAGCCCAGAGAAGAAACAAGAGTTGGTGGAGAAGCCGGCAGTGGGGGAATCCAAGGAGGAGAAGATTGAGCTGAAATCCATCACGGCTGACGGAGAGTCTCCACCCGCCACCAAGGTGAGGAGCTGTCTCCTTCCTGGAGCTGTGAGGCCGGTGCTGGGGAGGGAGGGCCACAGCCTTCCCAGGCCAGAACCCTGTGGAGAAGAGGAGAGAAAGAAAGACACCCAGTGGAAAGAAAGCCAGTGGGGATGAACAGGAGAGCTGGGAGGGGGAAGATAAGGCAGATTGGCTGGATCCCAGCCATCTGCTGATGTCTTGAAGGAGATATGCAAAGTGACAAGTACCTATTTTTGAGCTAAGTCACTGACTAAAATGCAACTTCAAGGCTACTGCAAGCCTCTTAACTTGGGGACGTATCTAACTATTCTTCCCCCTTCTCCCCTGTGACTGTCTAGATCAACATGGATGACCTCCAGCCCAATGAAAATGAGGATGAGAGCCCCTACCCCAACCCAGAAACTACAGGTACCAGTCCCACTGCCTAACCTGGGATTGGGAGATTGGGGGCAGAGATCTAAATTCTAAAGCCACGTGGGAGTGGCCATATATTAGGGACCATGGTTCCAGTGTCCCTCTGTAAGTACCTTCCACTGCTGAGTGTCTTCTATCTCTATATTTAAGCATCATCAGTCAGCATCTGGGAGGCAGGTTTGTTTCTGGTTTCCTCATAATGAGATCACATTTGAGCAGTGCTTTTGTGTCCTTTCCAAGTTGGATTCAGTGTACATTTAAATTTTTGTTACATTACATGTTGTAAAATCATCATTAATTTATATAATGTATTAGTATGGCATATGTTGCAACATTATGCTCACTTAATATTAATAGTCAATCCCAAGTCTGCCTTGCCCCTACTCAGGAGGCAGTGCCGAGTGCAGGGACAGCTGCCACCACAGATGTCCCACTTGTTGCTTTAGGCAATGATTTCAGGTCTCATTATAAAAGGCGCGCTTACTGACTCCATCTTTTTATGCTTCTATCTGATACCTAAATTGGCAGGCAGTCTGCTTCTCAAGAGCTTTAATGTCAGAGATCAGAGGTCCTCCCTCCAGGCTTCACTTCCCTGCTCCCTGAAATCCCATACCCTGTGCAAGGCCTGGGCTTGCCTTCCTCTGACCTAGGATTGCAGATATTATCGCCAGTTTCAAGCTTGAAGTCAATAACATGCTATCAAGGGACTGTTGATTTTACTGACATTTCCTTGTTCCTGTAGGTTAGGCTATATTTGGGTTGTTCACCAAGTTAGGTGGCTGAGAACCTCCTACATTTATGAGCAAAGCTCGGTTTCCCTTTTTGCTTTCCCTCCGCTGGTTCTCTGCTTAGAACACTCACAGGCATCCTTGGGAACCAGACTCCCTGTGGTCACACCATCCTCACTCCCCTCCTCCTGCAAGGGAATAGGATGTGGTTTCCTGGAGCTTGGATAGAAAGAACAGGAAGGGCGTTTTCATATGCCCGGCATTAAGGCTTTGAAGTTCTTAAAACCCCTTCTAGGGTGAAACCGTTAGGGAATTTCAACGACGTACTAGAATTATTGAACAAATGCAATGGGAGGATCTTGCCTTGATCCTGAAGCAACAAATACACTTTAAAATGACGTTTTAGAGGGAAATGGGGGAAATTGAATATGGACTGGGAACTAAATGATTGAAAGTAGTTTTGTTAATCTTGTTGGTATAATATTTTGTAGTTCTGTTTTTAAACTGCTGCAGTGTTTATGGCCAGAGTCTAAATGTTTACGAGTTGCTTTGCTTTTAAAATATTCCAACAAAAAAAAAATGGGGACAGAGAAGATAAATGGAACAAGATTAGCAAAATGTCCAAAGTTGTTGAAGCTGGTTATATATATGAGGTTTAGTATGTGAGACTGTACTCTTGTGTAAATCTTTAAGGTTTAAAATGAAAGACAGTAATAAAACAAATTCCTTAGAGCCCTGAGAAGAGCCCTCCCATGGGGCCAGCCTCCAGGATGGGCCTCCCTGCACACACAACAGGGCAGATCTAGCATGAGGGTCTTTTCACACAGGCACCCAGCTGCAGCCAGGCCTGTACGGCAGATACACCTCTTGCATCTTCAACAAAAATCTCAAATTCTATTAATCTATACTCTTGGCTTTTCTTTTCTTTGTTGCTCTAATGAAATCAAAGAGAAGAATGTTAATTTTAAAAAAAAAGGGCTAATGAGGATTTTGTCACCAGGTCGGCCATCCTAGAAATGCCTCTCACGTAGCTACCCAGTGGCTCTGAGGACTGGGGGATGCTTACGCTTTCCAGCTGAAAAGCTCTTCCCACCCTCTGCTGAGGCCTCAGGATTCTTGAGATTTTTGAGTGTACGGCCCGCTCCCCGTCATTTCTGTTGGTTACATGTGTCTCTTTACTTTCGTGTTGAGACCTCTGGTCCATACCCTGAGGCTGCCCTGACTGCCCCACCACGTACACCAGCCACCACTCCGGCCTCTGAAGCCAGCCCCAAGCATGCCCA
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Task1_train_16933
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Gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Long QT syndrome
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CTGTGCCAGGCATTTTTTTTTTCTTTGCAGTACCTGGCTTTGTTTGAACCAGAAGAGGGAGAACATGCAGAGGCACAGCTGTGTCCATGAGACGAGCATCCCATAACTATCTTTCTCCAGCCAGACTAGTATCCCCTTCACCTTCATCTTATACAGAGTCCCCTTCCTTCTGACCGGTGTGGAAGTTCAATCATCATCAAGAAATAAGGGCTTCTAGTGCCAGGCAAAGCTTTTCTTTCCAGGGTTTTCAGCACATAGGGAGAAGGGACAGACATTTAAAATCAGTCATCAAGGTACTGGAGGCAGAGGTTCTGCTGGGATCCATGGAAAGGTCATTCCCTGGAGCGTGAGTACTCAGGAAAGTTGGAAGGAGGATGCTATCTGGATTGGGGGTCCTTGTGTGCTCTGCAGAGAGGGAGATGAAGCGCAGCTCAAACAGAGAGAGAGAGAGCATGAGGAAGGACGGAGCACACAGTGAGCTTGTCAGCTCACTAGGGCTGCCATAACCAGTGACCACACACTGGGCAGCTTAAACAGCAGAAATGCATCCTTTTACAGTTCTAGAGGCTGGAAGTCCAAAATCAAGGGGTCTGCAGGGCCAAGCGCCTTCTGAAAGGCTCTTGGGAAGAATCCTCACTTGCCTCTCCTAACTTCTTGTGGTTGCCGGCAGTCCTTGGCTTGTAGATGCATCCCTCCAATCTCTGCCTCTGTCTTCACATGGCCTTCTTCCCTAAGTGTGTTTTTGTGTCTCTGTGCCTGTCTTGATGAGGATAACAGTCATTACATTTAGGGCCCATCCTAGCGCAGAATAACTTCTTCATAACCAATTACATCTGCAAAGGCCATATTTCCAAATAAGGTCACATTGCAAAGTTCTAGGTAGGCATGAGTTTGCGGGGGAAACTGTTCAACCCACTGTAGTGAAGTGCTCAGAAAATAGTTTCGTGTGAGTGGACAGTTTGTTAGGGAATAATAGGTGGTAAGGATCTGACTGAGAAAGATGTTGAGCATTAATTTACAGGCTTCGAGTCTGTCCCATAGGTAGAGGTTGTAATAAAAGCAGCAAACACTTACTTACAGAGCGGCTGCTATGTGCCAGGCACCGTTCTGAGGTATAGAGGTACTGTTATTATTATTCCACCTTAGATGGAGAAACTGAGGCACAGAGAGACTCAATAAAATGCCCACGGCTAGAAAGAAACAGAGCCAGGATTCTGGTCCAGGCGATTGGCTGGAGAGTCTGCTCTTCACTCCCATGTTGTTACTTTCCCCTCTGAGCATCTTCAACACATTTGAGCAGCCCAGGATGGGCAGTGCTTCCCGTCATGAGCGTTGTGCTGGCAAGCACAGGAATAAGCTGTCTGACTTTGGTCCACATTAAATGTGGCCACTGGCTGGGAGAACGAAGGCGCTTCTTTAATTGGTGTCAGTGTCTAAACCTTTGCATGAAGGGCCTGCTGTGGTCAGTAGTATTGCCCTGTTATCTCGACAGCACATGAATTTTTTTTTTTTTTTTTTTTTAGTTGCAGAAATTGGGAAAGTGTTGGTTTCTAATTCCTGGAACTTCCAAGAGTGAGGTTATTTGCAAGGGATTCCACAAGCCAACTCAGCCATACCCTTTCCCCAACCTGCGGCCTAGATAGATGAGTAACACCTGGCAGTGCCCTGTCCTACCTGGTCACCTTTTTTCATACCTTACAACTAGGATGACCAACGACCCCAGTTTGCCCAGAACTAGGGGGTTTCCTGGGATGTGGGAATTTTAGTTTTAAAACCAGAACAAGTTGGTCGCCCTACTTACAATCCCCCTTATTGTGCACTGCCAGATACGACTTCTCCAGCAGAGATGAGCTGCAGCAGCACCCACAGGGAGACAGCAGAATGTCTGTCTTGGTTGGTACCCTACATTTTCAGAGCCATAATCATGTCTGCCAGTAGGAAGGTCTCTGAAAGTGGTAAAATAAGTGGGAGTGCTGGAGTTATTTAGAATGGTGCTGTTCTTCTTACAGGAGAAGAGGATGAGGAGGAGCCAGAGATGCCTGTCGGCCCTCGCCCACGACCACTCTCTGAGCTTCACCTTAAGGAAAAGGCAGTGCCCATGCCAGAAGCCAGCGCGTTTTTCATCTTCAGCTCTAACAACAGGTGTGCAGCAATGGTGGGGAAGGTGGGGTCCTGCTCTCTCTAGTACCAGCCTGGCAGTTGCCTGTATTTTACCTGAACCTCTGGATGGAGACTGAGACTCTCCCAGCTCCTTGCAAATTGTATAAACAGGCACTCATTTAGGGAAGAGTCCTGGATTTTGAATCAGAAGACTTGTGTTTATTTTTCTCTCCACTTTTTGAAATGTTTAAACTCTATTTCTATTCTTTGGGTGATTACCCTTGATAATTTACTAATTCTATTTAACTTAACAAAATGTGATGTTAAACAATATCAAGAACCTCCTCCTGTATAATAGAGTGACCTTAGACTATTTTAACTCACTCATCTGCTCCTTACTTACATGGAATTGTCGTTAGTATTTTAGTCCAACTTTTATTTTTAATCCAACAAGTTAGTGAGTCTTACTGTTATATAGATACTGTGTGTTTGGATATATGTACACCTTACCATTTTATTTGTTCACCATTTTTTTACTCATTTCAGTCCATCCTTTAGCTAGCATTTTCTTTCTTCCTAAAGTACATTCTTTAGAGGCTCCTTTAGTTCCGTAATGGCAAATTCAGTGGGCCTCTACTTACCTATAACTGTTTCACTTCTTGCTCTTGAAAGATAGTTTTGCTGTGTACACGATTTTAGACAGACAATTTTTGTCCTGCAGCACAAGAAAGGTGTTATTCCACTGTAAAGTCAGCTGTCATTCCAACTATGGTTTCTTTGTGAGTAACCTAACGTTTATTTGTAGCTGCTTTTAACATATTCTGTTGCCTTTGTGGTTGTACAGATTTACTACCATGTGTCAAGGTGTGGATTTCTTTCCATTTGTCTTGCTTAGAATACATTCTGCTTCCTAAGCCTATGTATTTAGATTTTTATTCAGTTATTGAAAAAGTACAGCCATAATGTTTAAATATTGCTTCTTTTTAATTCTATATTTCTTCCTTCTGACACTCCAATTGGACATCTGTTAGACATTTTCATTCTGTCCTCCCTGTTTCTTAGAGGGTCTTACATATCTTTCATCTCCTTGTCTTTCTGTATTCTGGGAAATTTCTTCAACTGTATCTTCCAGTTTCTTAATTCTATTTTCAACTTAATCTATATTACTGTTTAAACCAATTTTTTATCTTGACCATTATATGTTTTTGTTTCAGTCAGTTCCATTTGTTGCTTGATTTTCCAGATCCATCTCTAAATCTAGTAGTTTCTATCAATTCCTCATCTTTGTGATTTAGTCCTTTATTTCATTAAATATTTCAAATATAGTTGTTTTATAGTCTATATCTAATATTTCCAATACCTCCAGTCTTTGGAATCTAAATCACTTATCCAGTGTTTCTTCAGATTTCCCATCTTAGGGGCTTGTCCTTTTGTGCATCTGATGATCTTTGATTGTGACCCCAACACTTCCTCTTCATTTGTGAGAGTCCTGAAGACCTAAAGTAGGTCTGGGGAGACTTTCTTCCAGATGCCCCTTGGAGGTGTTGGCTTGGCCTAAAATTCCCAGGCTTTCCTGCCCCACCTCAAGACTGGCTTAACCTGCAATTTCTTGACAGCACTGCTGTTATTGGCTTCCATCTTCAAGCAATTCTGCCCTCCTGGCTGGCTCTCTCTCCATACGTAGCCTCAGCTCAGTGGAGGTTGGTGGGAGGGGTTGTTGGTTTGAAGCAGATGATTCTTACAGCCATCTCCTAACTCTTATAAACCAGAATTGTCTGAGAGAGTTTGGCCCTTCGAGGGTTTGGTGCTTCTGCAGCAGGAGGGCTTCTCAGAGCATTTAGTCAACCATAATGCCAGGAGCAGAAGTCTGAAGGCCTGGGTTGAAGCCCTGACTCTCCCACACTAAGGCTGTGTTTCTGGGCAAGCCTCTCCTACTTGGGTTTCAGTGTTCTTACCTGTGAAATGAAGATGATGACACCCATCCCTTCCTTCCTAC
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CTGTGCCAGGCATTTTTTTTTTCTTTGCAGTACCTGGCTTTGTTTGAACCAGAAGAGGGAGAACATGCAGAGGCACAGCTGTGTCCATGAGACGAGCATCCCATAACTATCTTTCTCCAGCCAGACTAGTATCCCCTTCACCTTCATCTTATACAGAGTCCCCTTCCTTCTGACCGGTGTGGAAGTTCAATCATCATCAAGAAATAAGGGCTTCTAGTGCCAGGCAAAGCTTTTCTTTCCAGGGTTTTCAGCACATAGGGAGAAGGGACAGACATTTAAAATCAGTCATCAAGGTACTGGAGGCAGAGGTTCTGCTGGGATCCATGGAAAGGTCATTCCCTGGAGCGTGAGTACTCAGGAAAGTTGGAAGGAGGATGCTATCTGGATTGGGGGTCCTTGTGTGCTCTGCAGAGAGGGAGATGAAGCGCAGCTCAAACAGAGAGAGAGAGAGCATGAGGAAGGACGGAGCACACAGTGAGCTTGTCAGCTCACTAGGGCTGCCATAACCAGTGACCACACACTGGGCAGCTTAAACAGCAGAAATGCATCCTTTTACAGTTCTAGAGGCTGGAAGTCCAAAATCAAGGGGTCTGCAGGGCCAAGCGCCTTCTGAAAGGCTCTTGGGAAGAATCCTCACTTGCCTCTCCTAACTTCTTGTGGTTGCCGGCAGTCCTTGGCTTGTAGATGCATCCCTCCAATCTCTGCCTCTGTCTTCACATGGCCTTCTTCCCTAAGTGTGTTTTTGTGTCTCTGTGCCTGTCTTGATGAGGATAACAGTCATTACATTTAGGGCCCATCCTAGCGCAGAATAACTTCTTCATAACCAATTACATCTGCAAAGGCCATATTTCCAAATAAGGTCACATTGCAAAGTTCTAGGTAGGCATGAGTTTGCGGGGGAAACTGTTCAACCCACTGTAGTGAAGTGCTCAGAAAATAGTTTCGTGTGAGTGGACAGTTTGTTAGGGAATAATAGGTGGTAAGGATCTGACTGAGAAAGATGTTGAGCATTAATTTACAGGCTTCGAGTCTGTCCCATAGGTAGAGGTTGTAATAAAAGCAGCAAACACTTACTTACAGAGCGGCTGCTATGTGCCAGGCACCGTTCTGAGGTATAGAGGTACTGTTATTATTATTCCACCTTAGATGGAGAAACTGAGGCACAGAGAGACTCAATAAAATGCCCACGGCTAGAAAGAAACAGAGCCAGGATTCTGGTCCAGGCGATTGGCTGGAGAGTCTGCTCTTCACTCCCATGTTGTTACTTTCCCCTCTGAGCATCTTCAACACATTTGAGCAGCCCAGGATGGGCAGTGCTTCCCGTCATGAGCGTTGTGCTGGCAAGCACAGGAATAAGCTGTCTGACTTTGGTCCACATTAAATGTGGCCACTGGCTGGGAGAACGAAGGCGCTTCTTTAATTGGTGTCAGTGTCTAAACCTTTGCATGAAGGGCCTGCTGTGGTCAGTAGTATTGCCCTGTTATCTCGACAGCACATGAATTTTTTTTTTTTTTTTTTTTTAGTTGCAGAAATTGGGAAAGTGTTGGTTTCTAATTCCTGGAACTTCCAAGAGTGAGGTTATTTGCAAGGGATTCCACAAGCCAACTCAGCCATACCCTTTCCCCAACCTGCGGCCTAGATAGATGAGTAACACCTGGCAGTGCCCTGTCCTACCTGGTCACCTTTTTTCATACCTTACAACTAGGATGACCAACGACCCCAGTTTGCCCAGAACTAGGGGGTTTCCTGGGATGTGGGAATTTTAGTTTTAAAACCAGAACAAGTTGGTCGCCCTACTTACAATCCCCCTTATTGTGCACTGCCAGATACGACTTCTCCAGCAGAGATGAGCTGCAGCAGCACCCACAGGGAGACAGCAGAATGTCTGTCTTGGTTGGTACCCTACATTTTCAGAGCCATAATCATGTCTGCCAGTAGGAAGGTCTCTGAAAGTGGTAAAATAAGTGGGAGTGCTGGAGTTATTTAGAATGGTGCTGTTCTTCTTACAGGAGAAGAGGATGAGGAGGAGCCAGAGATGCCTGTCGGCCGTCGCCCACGACCACTCTCTGAGCTTCACCTTAAGGAAAAGGCAGTGCCCATGCCAGAAGCCAGCGCGTTTTTCATCTTCAGCTCTAACAACAGGTGTGCAGCAATGGTGGGGAAGGTGGGGTCCTGCTCTCTCTAGTACCAGCCTGGCAGTTGCCTGTATTTTACCTGAACCTCTGGATGGAGACTGAGACTCTCCCAGCTCCTTGCAAATTGTATAAACAGGCACTCATTTAGGGAAGAGTCCTGGATTTTGAATCAGAAGACTTGTGTTTATTTTTCTCTCCACTTTTTGAAATGTTTAAACTCTATTTCTATTCTTTGGGTGATTACCCTTGATAATTTACTAATTCTATTTAACTTAACAAAATGTGATGTTAAACAATATCAAGAACCTCCTCCTGTATAATAGAGTGACCTTAGACTATTTTAACTCACTCATCTGCTCCTTACTTACATGGAATTGTCGTTAGTATTTTAGTCCAACTTTTATTTTTAATCCAACAAGTTAGTGAGTCTTACTGTTATATAGATACTGTGTGTTTGGATATATGTACACCTTACCATTTTATTTGTTCACCATTTTTTTACTCATTTCAGTCCATCCTTTAGCTAGCATTTTCTTTCTTCCTAAAGTACATTCTTTAGAGGCTCCTTTAGTTCCGTAATGGCAAATTCAGTGGGCCTCTACTTACCTATAACTGTTTCACTTCTTGCTCTTGAAAGATAGTTTTGCTGTGTACACGATTTTAGACAGACAATTTTTGTCCTGCAGCACAAGAAAGGTGTTATTCCACTGTAAAGTCAGCTGTCATTCCAACTATGGTTTCTTTGTGAGTAACCTAACGTTTATTTGTAGCTGCTTTTAACATATTCTGTTGCCTTTGTGGTTGTACAGATTTACTACCATGTGTCAAGGTGTGGATTTCTTTCCATTTGTCTTGCTTAGAATACATTCTGCTTCCTAAGCCTATGTATTTAGATTTTTATTCAGTTATTGAAAAAGTACAGCCATAATGTTTAAATATTGCTTCTTTTTAATTCTATATTTCTTCCTTCTGACACTCCAATTGGACATCTGTTAGACATTTTCATTCTGTCCTCCCTGTTTCTTAGAGGGTCTTACATATCTTTCATCTCCTTGTCTTTCTGTATTCTGGGAAATTTCTTCAACTGTATCTTCCAGTTTCTTAATTCTATTTTCAACTTAATCTATATTACTGTTTAAACCAATTTTTTATCTTGACCATTATATGTTTTTGTTTCAGTCAGTTCCATTTGTTGCTTGATTTTCCAGATCCATCTCTAAATCTAGTAGTTTCTATCAATTCCTCATCTTTGTGATTTAGTCCTTTATTTCATTAAATATTTCAAATATAGTTGTTTTATAGTCTATATCTAATATTTCCAATACCTCCAGTCTTTGGAATCTAAATCACTTATCCAGTGTTTCTTCAGATTTCCCATCTTAGGGGCTTGTCCTTTTGTGCATCTGATGATCTTTGATTGTGACCCCAACACTTCCTCTTCATTTGTGAGAGTCCTGAAGACCTAAAGTAGGTCTGGGGAGACTTTCTTCCAGATGCCCCTTGGAGGTGTTGGCTTGGCCTAAAATTCCCAGGCTTTCCTGCCCCACCTCAAGACTGGCTTAACCTGCAATTTCTTGACAGCACTGCTGTTATTGGCTTCCATCTTCAAGCAATTCTGCCCTCCTGGCTGGCTCTCTCTCCATACGTAGCCTCAGCTCAGTGGAGGTTGGTGGGAGGGGTTGTTGGTTTGAAGCAGATGATTCTTACAGCCATCTCCTAACTCTTATAAACCAGAATTGTCTGAGAGAGTTTGGCCCTTCGAGGGTTTGGTGCTTCTGCAGCAGGAGGGCTTCTCAGAGCATTTAGTCAACCATAATGCCAGGAGCAGAAGTCTGAAGGCCTGGGTTGAAGCCCTGACTCTCCCACACTAAGGCTGTGTTTCTGGGCAAGCCTCTCCTACTTGGGTTTCAGTGTTCTTACCTGTGAAATGAAGATGATGACACCCATCCCTTCCTTCCTAC
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Task1_train_16934
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Given this context: Chromosome 12, gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Cardiovascular phenotype
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GGCATTTTTTTTTTCTTTGCAGTACCTGGCTTTGTTTGAACCAGAAGAGGGAGAACATGCAGAGGCACAGCTGTGTCCATGAGACGAGCATCCCATAACTATCTTTCTCCAGCCAGACTAGTATCCCCTTCACCTTCATCTTATACAGAGTCCCCTTCCTTCTGACCGGTGTGGAAGTTCAATCATCATCAAGAAATAAGGGCTTCTAGTGCCAGGCAAAGCTTTTCTTTCCAGGGTTTTCAGCACATAGGGAGAAGGGACAGACATTTAAAATCAGTCATCAAGGTACTGGAGGCAGAGGTTCTGCTGGGATCCATGGAAAGGTCATTCCCTGGAGCGTGAGTACTCAGGAAAGTTGGAAGGAGGATGCTATCTGGATTGGGGGTCCTTGTGTGCTCTGCAGAGAGGGAGATGAAGCGCAGCTCAAACAGAGAGAGAGAGAGCATGAGGAAGGACGGAGCACACAGTGAGCTTGTCAGCTCACTAGGGCTGCCATAACCAGTGACCACACACTGGGCAGCTTAAACAGCAGAAATGCATCCTTTTACAGTTCTAGAGGCTGGAAGTCCAAAATCAAGGGGTCTGCAGGGCCAAGCGCCTTCTGAAAGGCTCTTGGGAAGAATCCTCACTTGCCTCTCCTAACTTCTTGTGGTTGCCGGCAGTCCTTGGCTTGTAGATGCATCCCTCCAATCTCTGCCTCTGTCTTCACATGGCCTTCTTCCCTAAGTGTGTTTTTGTGTCTCTGTGCCTGTCTTGATGAGGATAACAGTCATTACATTTAGGGCCCATCCTAGCGCAGAATAACTTCTTCATAACCAATTACATCTGCAAAGGCCATATTTCCAAATAAGGTCACATTGCAAAGTTCTAGGTAGGCATGAGTTTGCGGGGGAAACTGTTCAACCCACTGTAGTGAAGTGCTCAGAAAATAGTTTCGTGTGAGTGGACAGTTTGTTAGGGAATAATAGGTGGTAAGGATCTGACTGAGAAAGATGTTGAGCATTAATTTACAGGCTTCGAGTCTGTCCCATAGGTAGAGGTTGTAATAAAAGCAGCAAACACTTACTTACAGAGCGGCTGCTATGTGCCAGGCACCGTTCTGAGGTATAGAGGTACTGTTATTATTATTCCACCTTAGATGGAGAAACTGAGGCACAGAGAGACTCAATAAAATGCCCACGGCTAGAAAGAAACAGAGCCAGGATTCTGGTCCAGGCGATTGGCTGGAGAGTCTGCTCTTCACTCCCATGTTGTTACTTTCCCCTCTGAGCATCTTCAACACATTTGAGCAGCCCAGGATGGGCAGTGCTTCCCGTCATGAGCGTTGTGCTGGCAAGCACAGGAATAAGCTGTCTGACTTTGGTCCACATTAAATGTGGCCACTGGCTGGGAGAACGAAGGCGCTTCTTTAATTGGTGTCAGTGTCTAAACCTTTGCATGAAGGGCCTGCTGTGGTCAGTAGTATTGCCCTGTTATCTCGACAGCACATGAATTTTTTTTTTTTTTTTTTTTTAGTTGCAGAAATTGGGAAAGTGTTGGTTTCTAATTCCTGGAACTTCCAAGAGTGAGGTTATTTGCAAGGGATTCCACAAGCCAACTCAGCCATACCCTTTCCCCAACCTGCGGCCTAGATAGATGAGTAACACCTGGCAGTGCCCTGTCCTACCTGGTCACCTTTTTTCATACCTTACAACTAGGATGACCAACGACCCCAGTTTGCCCAGAACTAGGGGGTTTCCTGGGATGTGGGAATTTTAGTTTTAAAACCAGAACAAGTTGGTCGCCCTACTTACAATCCCCCTTATTGTGCACTGCCAGATACGACTTCTCCAGCAGAGATGAGCTGCAGCAGCACCCACAGGGAGACAGCAGAATGTCTGTCTTGGTTGGTACCCTACATTTTCAGAGCCATAATCATGTCTGCCAGTAGGAAGGTCTCTGAAAGTGGTAAAATAAGTGGGAGTGCTGGAGTTATTTAGAATGGTGCTGTTCTTCTTACAGGAGAAGAGGATGAGGAGGAGCCAGAGATGCCTGTCGGCCCTCGCCCACGACCACTCTCTGAGCTTCACCTTAAGGAAAAGGCAGTGCCCATGCCAGAAGCCAGCGCGTTTTTCATCTTCAGCTCTAACAACAGGTGTGCAGCAATGGTGGGGAAGGTGGGGTCCTGCTCTCTCTAGTACCAGCCTGGCAGTTGCCTGTATTTTACCTGAACCTCTGGATGGAGACTGAGACTCTCCCAGCTCCTTGCAAATTGTATAAACAGGCACTCATTTAGGGAAGAGTCCTGGATTTTGAATCAGAAGACTTGTGTTTATTTTTCTCTCCACTTTTTGAAATGTTTAAACTCTATTTCTATTCTTTGGGTGATTACCCTTGATAATTTACTAATTCTATTTAACTTAACAAAATGTGATGTTAAACAATATCAAGAACCTCCTCCTGTATAATAGAGTGACCTTAGACTATTTTAACTCACTCATCTGCTCCTTACTTACATGGAATTGTCGTTAGTATTTTAGTCCAACTTTTATTTTTAATCCAACAAGTTAGTGAGTCTTACTGTTATATAGATACTGTGTGTTTGGATATATGTACACCTTACCATTTTATTTGTTCACCATTTTTTTACTCATTTCAGTCCATCCTTTAGCTAGCATTTTCTTTCTTCCTAAAGTACATTCTTTAGAGGCTCCTTTAGTTCCGTAATGGCAAATTCAGTGGGCCTCTACTTACCTATAACTGTTTCACTTCTTGCTCTTGAAAGATAGTTTTGCTGTGTACACGATTTTAGACAGACAATTTTTGTCCTGCAGCACAAGAAAGGTGTTATTCCACTGTAAAGTCAGCTGTCATTCCAACTATGGTTTCTTTGTGAGTAACCTAACGTTTATTTGTAGCTGCTTTTAACATATTCTGTTGCCTTTGTGGTTGTACAGATTTACTACCATGTGTCAAGGTGTGGATTTCTTTCCATTTGTCTTGCTTAGAATACATTCTGCTTCCTAAGCCTATGTATTTAGATTTTTATTCAGTTATTGAAAAAGTACAGCCATAATGTTTAAATATTGCTTCTTTTTAATTCTATATTTCTTCCTTCTGACACTCCAATTGGACATCTGTTAGACATTTTCATTCTGTCCTCCCTGTTTCTTAGAGGGTCTTACATATCTTTCATCTCCTTGTCTTTCTGTATTCTGGGAAATTTCTTCAACTGTATCTTCCAGTTTCTTAATTCTATTTTCAACTTAATCTATATTACTGTTTAAACCAATTTTTTATCTTGACCATTATATGTTTTTGTTTCAGTCAGTTCCATTTGTTGCTTGATTTTCCAGATCCATCTCTAAATCTAGTAGTTTCTATCAATTCCTCATCTTTGTGATTTAGTCCTTTATTTCATTAAATATTTCAAATATAGTTGTTTTATAGTCTATATCTAATATTTCCAATACCTCCAGTCTTTGGAATCTAAATCACTTATCCAGTGTTTCTTCAGATTTCCCATCTTAGGGGCTTGTCCTTTTGTGCATCTGATGATCTTTGATTGTGACCCCAACACTTCCTCTTCATTTGTGAGAGTCCTGAAGACCTAAAGTAGGTCTGGGGAGACTTTCTTCCAGATGCCCCTTGGAGGTGTTGGCTTGGCCTAAAATTCCCAGGCTTTCCTGCCCCACCTCAAGACTGGCTTAACCTGCAATTTCTTGACAGCACTGCTGTTATTGGCTTCCATCTTCAAGCAATTCTGCCCTCCTGGCTGGCTCTCTCTCCATACGTAGCCTCAGCTCAGTGGAGGTTGGTGGGAGGGGTTGTTGGTTTGAAGCAGATGATTCTTACAGCCATCTCCTAACTCTTATAAACCAGAATTGTCTGAGAGAGTTTGGCCCTTCGAGGGTTTGGTGCTTCTGCAGCAGGAGGGCTTCTCAGAGCATTTAGTCAACCATAATGCCAGGAGCAGAAGTCTGAAGGCCTGGGTTGAAGCCCTGACTCTCCCACACTAAGGCTGTGTTTCTGGGCAAGCCTCTCCTACTTGGGTTTCAGTGTTCTTACCTGTGAAATGAAGATGATGACACCCATCCCTTCCTTCCTACATTGCTGT
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GGCATTTTTTTTTTCTTTGCAGTACCTGGCTTTGTTTGAACCAGAAGAGGGAGAACATGCAGAGGCACAGCTGTGTCCATGAGACGAGCATCCCATAACTATCTTTCTCCAGCCAGACTAGTATCCCCTTCACCTTCATCTTATACAGAGTCCCCTTCCTTCTGACCGGTGTGGAAGTTCAATCATCATCAAGAAATAAGGGCTTCTAGTGCCAGGCAAAGCTTTTCTTTCCAGGGTTTTCAGCACATAGGGAGAAGGGACAGACATTTAAAATCAGTCATCAAGGTACTGGAGGCAGAGGTTCTGCTGGGATCCATGGAAAGGTCATTCCCTGGAGCGTGAGTACTCAGGAAAGTTGGAAGGAGGATGCTATCTGGATTGGGGGTCCTTGTGTGCTCTGCAGAGAGGGAGATGAAGCGCAGCTCAAACAGAGAGAGAGAGAGCATGAGGAAGGACGGAGCACACAGTGAGCTTGTCAGCTCACTAGGGCTGCCATAACCAGTGACCACACACTGGGCAGCTTAAACAGCAGAAATGCATCCTTTTACAGTTCTAGAGGCTGGAAGTCCAAAATCAAGGGGTCTGCAGGGCCAAGCGCCTTCTGAAAGGCTCTTGGGAAGAATCCTCACTTGCCTCTCCTAACTTCTTGTGGTTGCCGGCAGTCCTTGGCTTGTAGATGCATCCCTCCAATCTCTGCCTCTGTCTTCACATGGCCTTCTTCCCTAAGTGTGTTTTTGTGTCTCTGTGCCTGTCTTGATGAGGATAACAGTCATTACATTTAGGGCCCATCCTAGCGCAGAATAACTTCTTCATAACCAATTACATCTGCAAAGGCCATATTTCCAAATAAGGTCACATTGCAAAGTTCTAGGTAGGCATGAGTTTGCGGGGGAAACTGTTCAACCCACTGTAGTGAAGTGCTCAGAAAATAGTTTCGTGTGAGTGGACAGTTTGTTAGGGAATAATAGGTGGTAAGGATCTGACTGAGAAAGATGTTGAGCATTAATTTACAGGCTTCGAGTCTGTCCCATAGGTAGAGGTTGTAATAAAAGCAGCAAACACTTACTTACAGAGCGGCTGCTATGTGCCAGGCACCGTTCTGAGGTATAGAGGTACTGTTATTATTATTCCACCTTAGATGGAGAAACTGAGGCACAGAGAGACTCAATAAAATGCCCACGGCTAGAAAGAAACAGAGCCAGGATTCTGGTCCAGGCGATTGGCTGGAGAGTCTGCTCTTCACTCCCATGTTGTTACTTTCCCCTCTGAGCATCTTCAACACATTTGAGCAGCCCAGGATGGGCAGTGCTTCCCGTCATGAGCGTTGTGCTGGCAAGCACAGGAATAAGCTGTCTGACTTTGGTCCACATTAAATGTGGCCACTGGCTGGGAGAACGAAGGCGCTTCTTTAATTGGTGTCAGTGTCTAAACCTTTGCATGAAGGGCCTGCTGTGGTCAGTAGTATTGCCCTGTTATCTCGACAGCACATGAATTTTTTTTTTTTTTTTTTTTTAGTTGCAGAAATTGGGAAAGTGTTGGTTTCTAATTCCTGGAACTTCCAAGAGTGAGGTTATTTGCAAGGGATTCCACAAGCCAACTCAGCCATACCCTTTCCCCAACCTGCGGCCTAGATAGATGAGTAACACCTGGCAGTGCCCTGTCCTACCTGGTCACCTTTTTTCATACCTTACAACTAGGATGACCAACGACCCCAGTTTGCCCAGAACTAGGGGGTTTCCTGGGATGTGGGAATTTTAGTTTTAAAACCAGAACAAGTTGGTCGCCCTACTTACAATCCCCCTTATTGTGCACTGCCAGATACGACTTCTCCAGCAGAGATGAGCTGCAGCAGCACCCACAGGGAGACAGCAGAATGTCTGTCTTGGTTGGTACCCTACATTTTCAGAGCCATAATCATGTCTGCCAGTAGGAAGGTCTCTGAAAGTGGTAAAATAAGTGGGAGTGCTGGAGTTATTTAGAATGGTGCTGTTCTTCTTACAGGAGAAGAGGATGAGGAGGAGCCAGAGATGCCTGTCGGCCCTCGCCCAGGACCACTCTCTGAGCTTCACCTTAAGGAAAAGGCAGTGCCCATGCCAGAAGCCAGCGCGTTTTTCATCTTCAGCTCTAACAACAGGTGTGCAGCAATGGTGGGGAAGGTGGGGTCCTGCTCTCTCTAGTACCAGCCTGGCAGTTGCCTGTATTTTACCTGAACCTCTGGATGGAGACTGAGACTCTCCCAGCTCCTTGCAAATTGTATAAACAGGCACTCATTTAGGGAAGAGTCCTGGATTTTGAATCAGAAGACTTGTGTTTATTTTTCTCTCCACTTTTTGAAATGTTTAAACTCTATTTCTATTCTTTGGGTGATTACCCTTGATAATTTACTAATTCTATTTAACTTAACAAAATGTGATGTTAAACAATATCAAGAACCTCCTCCTGTATAATAGAGTGACCTTAGACTATTTTAACTCACTCATCTGCTCCTTACTTACATGGAATTGTCGTTAGTATTTTAGTCCAACTTTTATTTTTAATCCAACAAGTTAGTGAGTCTTACTGTTATATAGATACTGTGTGTTTGGATATATGTACACCTTACCATTTTATTTGTTCACCATTTTTTTACTCATTTCAGTCCATCCTTTAGCTAGCATTTTCTTTCTTCCTAAAGTACATTCTTTAGAGGCTCCTTTAGTTCCGTAATGGCAAATTCAGTGGGCCTCTACTTACCTATAACTGTTTCACTTCTTGCTCTTGAAAGATAGTTTTGCTGTGTACACGATTTTAGACAGACAATTTTTGTCCTGCAGCACAAGAAAGGTGTTATTCCACTGTAAAGTCAGCTGTCATTCCAACTATGGTTTCTTTGTGAGTAACCTAACGTTTATTTGTAGCTGCTTTTAACATATTCTGTTGCCTTTGTGGTTGTACAGATTTACTACCATGTGTCAAGGTGTGGATTTCTTTCCATTTGTCTTGCTTAGAATACATTCTGCTTCCTAAGCCTATGTATTTAGATTTTTATTCAGTTATTGAAAAAGTACAGCCATAATGTTTAAATATTGCTTCTTTTTAATTCTATATTTCTTCCTTCTGACACTCCAATTGGACATCTGTTAGACATTTTCATTCTGTCCTCCCTGTTTCTTAGAGGGTCTTACATATCTTTCATCTCCTTGTCTTTCTGTATTCTGGGAAATTTCTTCAACTGTATCTTCCAGTTTCTTAATTCTATTTTCAACTTAATCTATATTACTGTTTAAACCAATTTTTTATCTTGACCATTATATGTTTTTGTTTCAGTCAGTTCCATTTGTTGCTTGATTTTCCAGATCCATCTCTAAATCTAGTAGTTTCTATCAATTCCTCATCTTTGTGATTTAGTCCTTTATTTCATTAAATATTTCAAATATAGTTGTTTTATAGTCTATATCTAATATTTCCAATACCTCCAGTCTTTGGAATCTAAATCACTTATCCAGTGTTTCTTCAGATTTCCCATCTTAGGGGCTTGTCCTTTTGTGCATCTGATGATCTTTGATTGTGACCCCAACACTTCCTCTTCATTTGTGAGAGTCCTGAAGACCTAAAGTAGGTCTGGGGAGACTTTCTTCCAGATGCCCCTTGGAGGTGTTGGCTTGGCCTAAAATTCCCAGGCTTTCCTGCCCCACCTCAAGACTGGCTTAACCTGCAATTTCTTGACAGCACTGCTGTTATTGGCTTCCATCTTCAAGCAATTCTGCCCTCCTGGCTGGCTCTCTCTCCATACGTAGCCTCAGCTCAGTGGAGGTTGGTGGGAGGGGTTGTTGGTTTGAAGCAGATGATTCTTACAGCCATCTCCTAACTCTTATAAACCAGAATTGTCTGAGAGAGTTTGGCCCTTCGAGGGTTTGGTGCTTCTGCAGCAGGAGGGCTTCTCAGAGCATTTAGTCAACCATAATGCCAGGAGCAGAAGTCTGAAGGCCTGGGTTGAAGCCCTGACTCTCCCACACTAAGGCTGTGTTTCTGGGCAAGCCTCTCCTACTTGGGTTTCAGTGTTCTTACCTGTGAAATGAAGATGATGACACCCATCCCTTCCTTCCTACATTGCTGT
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Task1_train_16935
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Here is a genetic alteration in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Inborn genetic diseases
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CCTTCCAGGGAAAGCTGTACACCTGTTCAGACAGTTCCAAGCAGACAGAGGCGGAATGCAAGTGAGTAGAGGTGGGAGGGCAGCCAGGGCCACGGCCGGTCAGCCCCAGGAGGCTGGAGGCTTGACCAGAAAGGAGGGACAGCTCATTTTCTAAGACTGCAGTGGCACCTGCGCTCTGCCTGTGTGTCATCTGGCCTCACGGACACAATGTGTAGCATTTTTTGTTCCTGAAGTTTCTGCCCACTGAAGCTCCTCCCATGGCTAGAACGGTGAAGTTCAAGCCAGGCAGTCCCATCCCACCCAGCATTCAAGGTCACTGGCAGGCCAGGCGTGAAGGAAGATGGGAGATCCCAGAGTAAACTCCTTCTCCTCCTCTCTCAGGGGCAACTACATCACGTACAAAGACGGGGAGGTTGACCACCCCATCATCCAACCCCGCAGCTGGGAGAACAGCAAGTTTGACTTTGACAATGTTCTGGCAGCCATGATGGCCCTCTTCACCGTCTCCACCTTCGAAGGGTGGCCAGAGTGAGTATGCAAAGCAAGGCCCCACGAGCCCTGACATTCAAGGGCCAGTACTGACTTTCCAGCCCATCCCCAAGTTTTGTTAATGTCCCGCACTCCCTCTGGAGGTCATATTTACCTGGGTCCTCCCCAGGCAGTGAGGTGTATTTCTAGAACTTACAGTCCACTGTCACTGCTGAAACCGACTCTTCTTTCTCTAGAAGGTGTCAAGAAACTCCCACCAAAAGTGACCTTTTTTTAGCCCTCTTTCCAACCTCAGCATGAGCCACGATGTCAGAGATCTCTGTCATTACCCTTATGGCATCTGGGAGTTGGGTGTGGGGAGAGCTTCTCCAGGTGTGGGCCCTGTGGTCACCATAGGATTCAAGATTGCCACTCCCAGCATGCCCTTCATTGGGTAAAGATGGCTGAGATGTCTTTGTTTTATTTGACTGGATCCCGGTCTCCTTAGAAAAAGCCTTGCCTGTATTTACAGTGGAAAGTAGGAAAGGGATGGAAGCCCGGGCCCCACTTCCTCTGCAGAGGCAATGCGTTTGTGCGTAGAGCAGCCCGTGGGCCTTGCACGCTGCATCACCTCTACCAGGCAGCTTCCCATCAGATCCTTATATCTTTGTATAGATACCTGCTTTTCCCCCAATATGTATTCCAGTGAAATTAGAATCTGAAAGTCAGAAAATTCTAAATGTTTCTAAGTCAACAGCAATGCATGGATCTTAGGTAAGAGTCACATTATTATGTGGTAAGATATAGGTGATAGCTGGAGAATAACCAAGTGCTGTGCAGGGCTACAGAGGAAGGGGAAGAGATAATCCCTGTCCATGAAAAATAACAAGCTTCATGGGGCACACAGCCCAGGCTCAAATGAATGGCATATGTATGTAAACTGCTTATGTCTAAAACCAGGCCATTGGTGATGATCGGAGTAGCATGGGTCATGTGAGTGTTTTTATCTAAGTGGATATTTGCTCTCGGAGAGATTTATTTTACATTCCTTCTAACATTCTCTGAGCTCATGCCAGTTTGCAAAGCTGTCTCAATATTTACCAATATTTCCAGTGTTTTAAATCAATGTCCATGACTCATGTTACATTTAAATAGCTCTTCACAGTTTCAAAACACCTTCCTATACATTATTCTAACTACCCTGCAAGGTAGGAAAGTCAGGAATTATTGTCTCCAATTTACAGATGAAGAATCTGAGTCTCAGAGAGGTTAAACGCTTTGCCCAAGGTCACACAGCCAGTAAGAGGCCGAGCTGGGACTCCAGCCCAGAGCTGTCTCCTGCACCCTGATCCCTGGGATCCCTGGAGCAGTGGTGCCGTCCTTCCGCAGAGGGGACCCTGCTTCTCCAGTTCCCTCTGTGGGACCTGTCTCCTCCTGCAGGCTGCTGTACCGCTCCATCGACTCCCACACGGAAGACAAGGGCCCCATCTACAACTACCGTGTGGAGATCTCCATCTTCTTCATCATCTACATCATCATCATCGCCTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCGTCACCTTTCAGGAGCAGGGGGAGCAGGAGTACAAGAACTGTGAGCTGGACAAGAACCAGGTAGCTTCCTAGGAAGGAGCGGAGGGAAGCGGGGCCCACGGAGGGAATGGCAGCCTGCGGCCCACCCCGCAGAGGGGCTGCGACAGGGAGAGGCCGTGCAGATACTGAGATCGTCTCTCTATTCCTCAACCAGAGTGGGCTGTCAGTCTTTTTGAGGGACCTGTGCAAAAGAAATGCAAATTCCTGCAAACCCCAGATCTGGCAAATGTACTCAGCCAACAAATATCTATGAAGCTTCTACTTAAGGATACTCTATGATAGGTTTTGTCAAATCTCATGCCCTATATAGAAGTTAACAAGTTAGAGGGACCCAAGTGGGTCGGCACCATGATACGGAGGAGAGAAACTAGAACTGTGAGGGAGTGAGGGCTTTTGGGGTGGGGAACAGAACGGCTTCAGGAAACCACTCTTACATGGTTTCTTAAGTAAAACCCAGAGGCTTGTGTGGGAGGTGGGGGCAGGAAAGAGGCTTAAGTGGGAGTGAGATGGTGATGCCAAGTATCGTGACAGGTTCTGTTAGCCGTGAAGAGCTGGCAGTGCCGTGGCTGAGTCAGGAAGCTGTCGTGGTGGGAGGTAGATGTAGTGCCTCAGGTCTGTTCCCTAGCTCGGCTCCCACTGGGAGGAGTCCGTGGGGAAACACATCCCTGTCTGTGAATAAGGAGTGCCCACGGGCAGGAGCGCAGCGTGGTGTGCTCCTTGTGACCCTCGCCAGGCCAGCCAGTCCCCTGTGGGTTTTCAAGTCTACATCTCAGGCATAGACTCACTCTGCTGGCTGCTGTGTGGACCCTGGATTGAAAGAAGACAGGAAAGAGAGGAGGCCAGTTAGAAAGTGGAAATGAGAGAGGATTAGACCCCGATCTAGTATCCGGTTAATGATGGTAGCGATGGAAAGAATAGGAGGAGGTAAAAGCGTTAAGACTCAGGCGTTGGACACCGGGGCTGAGGGTTTGAGAAGAAGCTGGGGACATTCCCCAGTTCCTGATCTGGAAGCCTGGGCAAAGTACAGAGAAATGGACTGGCTCTTTGCCAGAGTCCCAAGAATCTAGTTAGCCCAGAATCTCCTTCCCTCTCAGTGAACTGTGTTTTTCCATCTTATGGACACTGGCAAATAAGAAAGATTGATTTAGTTGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTTGTGGCGTGTGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAGATGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGCTGGATTTAGGACAGGAAAGAAAAACTGAGGAGAGAAGTACCCAAGGAGGGTCTGTGGCATGGGAAGTAATCAGTGAGAAGCACAGCTGTCAGTCGGTCAGGAAGCACATTCTTAGCGATGCCGACTCCCTGCCGAGGCACATGCCAGGCATCACCAGGGTGAGGAAAGGAGGTGTATGGTCCCTGCCTAGGACCTTGTTACGGGGATTTGACAAGAAGGGGCTCTCTCCTTGATTAAGGGGGCCATGGAAAAATCAAGACATTTTCCAAATAACACCTCCCACCTGTAAGTGAGCCGGAGCGGCCAATGATTTCTCAGACTTCCGGAGAACCCCACCCCACAGTGTGTGGTCTCATCACATCCCACACTTCTCTGCCAGCTCCCCCCACACCCTCCAGTTAACTAACCCCACTCTCCCCATCCTCCACCACCCTCCCAGCGACAGTGCGTGGAATACGCCCTCAAGGCCCGGCCCCTGCGGAGGTACATCCCCAAGAACCAGCACCAGTACAAAGTGTGGTACGTGGTCAACTCCACCTACTTCGAGTACCTGATGTTCGTCCTCATCCTGCTCAACACCATCTGCCTGGCCATGCA
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CCTTCCAGGGAAAGCTGTACACCTGTTCAGACAGTTCCAAGCAGACAGAGGCGGAATGCAAGTGAGTAGAGGTGGGAGGGCAGCCAGGGCCACGGCCGGTCAGCCCCAGGAGGCTGGAGGCTTGACCAGAAAGGAGGGACAGCTCATTTTCTAAGACTGCAGTGGCACCTGCGCTCTGCCTGTGTGTCATCTGGCCTCACGGACACAATGTGTAGCATTTTTTGTTCCTGAAGTTTCTGCCCACTGAAGCTCCTCCCATGGCTAGAACGGTGAAGTTCAAGCCAGGCAGTCCCATCCCACCCAGCATTCAAGGTCACTGGCAGGCCAGGCGTGAAGGAAGATGGGAGATCCCAGAGTAAACTCCTTCTCCTCCTCTCTCAGGGGCAACTACATCACGTACAAAGACGGGGAGGTTGACCACCCCATCATCCAACCCCGCAGCTGGGAGAACAGCAAGTTTGACTTTGACAATGTTCTGGCAGCCATGATGGCCCTCTTCACCGTCTCCACCTTCGAAGGGTGGCCAGAGTGAGTATGCAAAGCAAGGCCCCACGAGCCCTGACATTCAAGGGCCAGTACTGACTTTCCAGCCCATCCCCAAGTTTTGTTAATGTCCCGCACTCCCTCTGGAGGTCATATTTACCTGGGTCCTCCCCAGGCAGTGAGGTGTATTTCTAGAACTTACAGTCCACTGTCACTGCTGAAACCGACTCTTCTTTCTCTAGAAGGTGTCAAGAAACTCCCACCAAAAGTGACCTTTTTTTAGCCCTCTTTCCAACCTCAGCATGAGCCACGATGTCAGAGATCTCTGTCATTACCCTTATGGCATCTGGGAGTTGGGTGTGGGGAGAGCTTCTCCAGGTGTGGGCCCTGTGGTCACCATAGGATTCAAGATTGCCACTCCCAGCATGCCCTTCATTGGGTAAAGATGGCTGAGATGTCTTTGTTTTATTTGACTGGATCCCGGTCTCCTTAGAAAAAGCCTTGCCTGTATTTACAGTGGAAAGTAGGAAAGGGATGGAAGCCCGGGCCCCACTTCCTCTGCAGAGGCAATGCGTTTGTGCGTAGAGCAGCCCGTGGGCCTTGCACGCTGCATCACCTCTACCAGGCAGCTTCCCATCAGATCCTTATATCTTTGTATAGATACCTGCTTTTCCCCCAATATGTATTCCAGTGAAATTAGAATCTGAAAGTCAGAAAATTCTAAATGTTTCTAAGTCAACAGCAATGCATGGATCTTAGGTAAGAGTCACATTATTATGTGGTAAGATATAGGTGATAGCTGGAGAATAACCAAGTGCTGTGCAGGGCTACAGAGGAAGGGGAAGAGATAATCCCTGTCCATGAAAAATAACAAGCTTCATGGGGCACACAGCCCAGGCTCAAATGAATGGCATATGTATGTAAACTGCTTATGTCTAAAACCAGGCCATTGGTGATGATCGGAGTAGCATGGGTCATGTGAGTGTTTTTATCTAAGTGGATATTTGCTCTCGGAGAGATTTATTTTACATTCCTTCTAACATTCTCTGAGCTCATGCCAGTTTGCAAAGCTGTCTCAATATTTACCAATATTTCCAGTGTTTTAAATCAATGTCCATGACTCATGTTACATTTAAATAGCTCTTCACAGTTTCAAAACACCTTCCTATACATTATTCTAACTACCCTGCAAGGTAGGAAAGTCAGGAATTATTGTCTCCAATTTACAGATGAAGAATCTGAGTCTCAGAGAGGTTAAACGCTTTGCCCAAGGTCACACAGCCAGTAAGAGGCCGAGCTGGGACTCCAGCCCAGAGCTGTCTCCTGCACCCTGATCCCTGGGATCCCTGGAGCAGTGGTGCCGTCCTTCCGCAGAGGGGACCCTGCTTCTCCAGTTCCCTCTGTGGGACCTGTCTCCTCCTGCAGGCTGCTGTACCGCTCCATCGACTCCCACACGGAAGACAAGGGCCCCATCTACAACTACCGTGTGGAGATCTCCATCTTCTTCATCATCTACATCATCATCATCGCCTTCTTCATGATGAACATCTTCGTGGGCTTCGTCACCGTCACCTTTCAGGAGCAGGGGGAGCAGGAGTACAAGAACTGTGAGCTGGACAAGAACCAGGTAGCTTCCTAGGAAGGAGCGGAGGGAAGCGGGGCCCACGGAGGGAATGGCAGCCTGCGGCCCACCCCGCAGAGGGGCTGCGACAGGGAGAGGCCGTGCAGATACTGAGATCGTCTCTCTATTCCTCAACCAGAGTGGGCTGTCAGTCTTTTTGAGGGACCTGTGCAAAAGAAATGCAAATTCCTGCAAACCCCAGATCTGGCAAATGTACTCAGCCAACAAATATCTATGAAGCTTCTACTTAAGGATACTCTATGATAGGTTTTGTCAAATCTCATGCCCTATATAGAAGTTAACAAGTTAGAGGGACCCAAGTGGGTCGGCACCATGATACGGAGGAGAGAAACTAGAACTGTGAGGGAGTGAGGGCTTTTGGGGTGGGGAACAGAACGGCTTCAGGAAACCACTCTTACATGGTTTCTTAAGTAAAACCCAGAGGCTTGTGTGGGAGGTGGGGGCAGGAAAGAGGCTTAAGTGGGAGTGAGATGGTGATGCCAAGTATCGTGACAGGTTCTGTTAGCCGTGAAGAGCTGGCAGTGCCGTGGCTGAGTCAGGAAGCTGTCGTGGTGGGAGGTAGATGTAGTGCCTCAGGTCTGTTCCCTAGCTCGGCTCCCACTGGGAGGAGTCCGTGGGGAAACACATCCCTGTCTGTGAATAAGGAGTGCCCACGGGCAGGAGCGCAGCGTGGTGTGCTCCTTGTGACCCTCGCCAGGCCAGCCAGTCCCCTGTGGGTTTTCAAGTCTACATCTCAGGCATAGACTCACTCTGCTGGCTGCTGTGTGGACCCTGGATTGAAAGAAGACAGGAAAGAGAGGAGGCCAGTTAGAAAGTGGAAATGAGAGAGGATTAGACCCCGATCTAGTATCCGGTTAATGATGGTAGCGATGGAAAGAATAGGAGGAGGTAAAAGCGTTAAGACTCAGGCGTTGGACACCGGGGCTGAGGGTTTGAGAAGAAGCTGGGGACATTCCCCAGTTCCTGATCTGGAAGCCTGGGCAAAGTACAGAGAAATGGACTGGCTCTTTGCCAGAGTCCCAAGAATCTAGTTAGCCCAGAATCTCCTTCCCTCTCAGTGAACTGTGTTTTTCCATCTTATGGACACTGGCAAATAAGAAAGATTGATTTAGTTGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTTGTGGCGTGTGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAGATGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGCTGGATTTAGGACAGGAAAGAAAAACTGAGGAGAGAAGTACCCAAGGAGGGTCTGTGGCATGGGAAGTAATCAGTGAGAAGCACAGCTGTCAGTCGGTCAGGAAGCACATTCTTAGCGATGCCGACTCCCTGCCGAGGCACATGCCAGGCATCACCAGGGTGAGGAAAGGAGGTGTATGGTCCCTGCCTAGGACCTTGTTACGGGGATTTGACAAGAAGGGGCTCTCTCCTTGATTAAGGGGGCCATGGAAAAATCAAGACATTTTCCAAATAACACCTCCCACCTGTAAGTGAGCCGGAGCGGCCAATGATTTCTCAGACTTCCGGAGAACCCCACCCCACAGTGTGTGGTCTCATCACATCCCACACTTCTCTGCCAGCTCCCCCCACACCCTCCAGTTAACTAACCCCACTCTCCCCATCCTCCACCACCCTCCCAGCGACAGTGCGTGGAATACGCCCTCAAGGCCCGGCCCCTGCGGAGGTACATCCCCAAGAACCAGCACCAGTACAAAGTGTGGTACGTGGTCAACTCCACCTACTTCGAGTACCTGATGTTCGTCCTCATCCTGCTCAACACCATCTGCCTGGCCATGCA
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Task1_train_16936
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A genomic change on Chromosome 12 affects CACNA1C (calcium voltage-gated channel subunit alpha1 C). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Timothy syndrome
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GAATCGCAGGGCTGCCGCGTGGCCCAGAACACAGCTGACACAAGGAGGAGCCCTCCACTCTGGGGCCCTGCTCCTTCCTCTGTGTGGCAGAACTCGGCCGCTCTGCCTGGCTCCCTGTTTCCGCACCGAGAGGCCTAGACGAAGCATGTGGTTTCCAAGGCAGGCTCAGAGCCCCAGAAGGCCAGGTGGTAAAGGAGGGATGGGAGCTAAGGGGAGGCAGAAAGGGTCTGCCTTACTTTTAACCATCGTTTATGTCTTTCTGCACAAGAATTTACTGGACAAAGGGGTTTTGTGGTAAGGAACAAACCTGAAAAACACGGGCCTGGACAACCTGGTGACCGCTATGGCCCTTCGAGTTCAGCATTTCCAGAATCTGGCCATCGCCCTCCTCCCCGTAGGCGTTTCAGCAGCATCTGCTGACAGCACCTGTCATGTCCTCGGCCAGAGTCGCAGGACCCTGGTGTCCTCCGCTCGGCTAGAGAGGCCCTTCGAATGGGCCCAGGACTGCCTGGCCATGTGATCAGTTCCTCCGCTCAGCCATTGTTTTCCCATTAAAACAGAGTGACAATCAGCCCCTGCCAGCTCGGAGGAGTCTTTGTAGGTTTGAAGTTAAGGAGAAGCAAAGCGCTTGGGTCACTTGACTTCCCCCAGATGAGCGCAGAACCCGTGAAGGCGGTTTCATGCTTCCCTGGGCTGGCGGAACGCAGGCTTCTCTCCCCCCATGGAGGGGCCGCTCTCAGCCTTTCCAAGACGAGAATCTGTCAGGGAAGATGGTCTTTGTGTGCCCCACCCTGGCCAGTCCCTGCCCGGGGACAGGGCATGCCTGGGCCTGGTCCAGGTGAGGAAAGATGCCCGTCCCCGCTCTGCCCCCAGCAGCCTCCTGCCAGGGACTGACCATCCAAGGCTCTCGAGGGAGCTCCCAATGGCCAGGCTGACCCCTGCCTAGTGATGAGCTGGGGCTCCTGCACTCTGAGCCCAGCTCAGCCCAGGCTCTGGGGATTCGGAATAGTAGACACCAGCGGAAGCAGGACTGCCGCTGACTCTGTACTTGGGTGCACGCGGAACCCACGGCTGTGAGTTGCCATACTCTCCCTGCCCCCCCGACATCTCCTGGGGCTGGGAAGAGGCACAGACCGGGTGACTGCGAGGGCCTGATGGCGGCGCAGGCGTTCGGGCCAGGCAGCTGGCGCCTGCTCTGACGGCACCCTCTAGTGACCGGTGGCCACGGCTGAAGCGGCGCCCGGGAACACGGGCTGGGCCTCCCATCCTGGGGACCATGGCCTGTCCCCAGAAGTCACGGGGGCTCTGGAAAATTAGTTGTCTGAGTTGCCAGGCAGATAATGCATGGAGCGAATAGAGCGTATGGAACCCAGCTCTGCAAGGCATTGCACTAAGCACTTTATAAGCCTTAAATCTTTTCAACCACAAAACCGCTGAGAGGTATTATTATTGTTTCCATTTTTCTGATGAGGAGACTGAAGTTCAGAGAAGTTAAGTGCCCCAACCCTCACAGATAGAAAGTGGCAGAAACAGGATTTGAACCCATGATCTTTCTTTTAAATTTTTCCTTATTAAATGTTTCCATTGCAATAGTAATACCCGCTCACTACAACTAGTGGGATGGAATTAAGCTGTGTAAAGAAAGGGTGTAACTTGCCACCACCCCACTCCTCCACAGGTAACCACAGTCAGCGGGGTGCTGTCCTCCACGATTTCTCCTGCCTCGTACAGACACACCGCACATGTGTAGTCGGAGGAGGTTTTGCTCGTTCTTGATTGTTTTGCCCAGGTAGTGTCGCACTATATCGTTACTCTGCGGCCTGCTTTGAAAACCAAGCTGAAATGGGAAGTCAGTTCCGGTTTCTCAGACCTTCTCGCAGGTTCCCCGTAGTCCTGTGGGACTCTTGGAAGTGTCCCCCGGCCCAAACCGGGCAATAGCTGATGGCTGCAGAGACAGGGATGCGGCGCTCCCTGGGAAGGGGCCCAGCTGGCCTCTGCACTCCAGCCTCATGGGAGTCTCCTGCACTTCCTTCCAGGCCCTGCCCTATGTGGCCCTCCTGATCGTGATGCTGTTCTTCATCTACGCGGTGATCGGGATGCAGGTAGGGAGGCTCCCACCACGGGGCTCCTGGCCTCCCGCTCTGTCTCTCCCCAGTTCCCAGCACCACATTCCCTAACGCCTTCCTCCCTCCCTTCTCCCTTTCATTCCTGACTGTCCCTCTCCCTCCTCTTCCATTTTCTGAGGCCCAAAAAGCCACAGGAATTGGAACTTTCCCCAAATGGATCTCCTGTAGGTAGCAGGAGAATGTCCCGGTACAGAATACACAGCCCAGAGAGCCTCCCTCCCCGAGGCCTGGGTTCTGCTCTTGGTAGAGGAAAGACACTCTCCAGTTATGCAAGGGGCCTCGGGACAGACACAGCCCCTTCTCAAGAAACAGCAGCAAGGTGTGTCTGTTTGTGTCCAGCACCCCTGTTTGTGTCCAGGTCTGATGGGCCTGAGAGTTACCCCAACCAGATTCATTTGAAGCTAATGGCTGAGAGGGAGGGAGGGAAGAAGGAAGCAAGGAAGGGCCAAATCAACACAAGGTTCACCGCATCAAATGTGCAGCAGTTTTCTGGGGCCTCCCCTCCCAGGTGCCCACTGCACCATTCACCGCAAACCTAGGGCTCTCCATTCCCGTCTTGGGGCTCCAGCTTGAGTCCCAAGGCCAAACTTGGCAGGGCGCCCACACTAGCCCAAAGCGCTTCCTCGGCCGCTCCTTCAGGAAGTCCCCTACTTGCTCATCGCAGAAAGACCCAAGATTCAGTTGCCAAAACCTTTTGAGACTAAAAGAGCTACCTTGATACCTGATAAAGGTGGCAGTTTCTAAGATAAGCACAGCTTTAAAAGACCAGGAAGAAAAGGGATTTCAGGAATGCATTAAGCTTGCCCTAGCCTCAGATCACTCACTCCACATCACTCCAAAATGCAAGAACTAAATTTGAAAGAGTGCTTGGACATGCAGAACTGAAATAGCAAAGAAAATAACGCAGTGCGTCCTGTGTCCTGTCAGAAGCAGGATCCCGGTCCCAGCATCCACCGCTCTCAGCCCCAGCTCCCACTGGGCTGCAGGGACCTTCCTGAGGCTGTGGGCACTTTGATTCTCATGCTTGTCCAGTGTAGGGATTTGGGCTCAGGGGCTGGGTGGGGCAGCAGGTGCCTGCCAGGTTGCATGGGAAGACTGTTCAGCTTGTGGCAGCCAGTTCCAGGGACACCTGAGACCCCTGAAGAGACCATTGAACAATGGTGGGAAATTAGGACCCTATCTGTCCACAAATCACTGAACACCTCTTCCTTCTCTCTCCTAGGTGTTTGGGAAAATTGCCCTGAATGATACCACAGAGATCAACCGGAACAACAACTTTCAGACCTTCCCCCAGGCCGTGCTGCTCCTCTTCAGGTGGGTCCCTGAAGACATAGGTGCACAGATACACACACACCTGCATGGTGCCACACTGTGGCCTGGTGGTAGAATGAAAGGGAACTGCTTCCCGGGGAGTAGGAAGGGAGAGGATGTGTTGCTTGCTCTCTGCCTGACAAGGAGGCCAGTGGGTCCATTGTCATTTATGATAACTTTCCACAGAGCAACCCACTATGCACTGGCACACCTGCTGGAAACCAGACAAAACCATTAGGGGAGCAAAAGTCACATGCTAAAAGCAGCCTGGCTTGGAATCTGAACAGGCCCAAAGCCAACCTGCCGACACGCTTTGTGACCTTGAGTGAGATATCTAACTTCTCTGAACCTCAGTTTTCTTGTCCAATAAGTACAGATATCTATCACTATACCAGCACCTGTGCCATTTGCCGTGCTGGGCGCTTATGTCCACATGCACTGGGCGTCATCCTCACTTAATCCTCAACACAATACTAGCAAACTGAATCCAATAGTACATGAGAAAGATGATACATCATGATCAAGTGGGTTTCATTCCAGGGGTGGTTCAACATATGCACATCAATAAATGTAAGACACCATATTAACAGAATGAAGGAAAAAAGACCCACATGATCATCTCAATAGATGCAGAAAAAGCATTTGACAAAATTCAACAT
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GAATCGCAGGGCTGCCGCGTGGCCCAGAACACAGCTGACACAAGGAGGAGCCCTCCACTCTGGGGCCCTGCTCCTTCCTCTGTGTGGCAGAACTCGGCCGCTCTGCCTGGCTCCCTGTTTCCGCACCGAGAGGCCTAGACGAAGCATGTGGTTTCCAAGGCAGGCTCAGAGCCCCAGAAGGCCAGGTGGTAAAGGAGGGATGGGAGCTAAGGGGAGGCAGAAAGGGTCTGCCTTACTTTTAACCATCGTTTATGTCTTTCTGCACAAGAATTTACTGGACAAAGGGGTTTTGTGGTAAGGAACAAACCTGAAAAACACGGGCCTGGACAACCTGGTGACCGCTATGGCCCTTCGAGTTCAGCATTTCCAGAATCTGGCCATCGCCCTCCTCCCCGTAGGCGTTTCAGCAGCATCTGCTGACAGCACCTGTCATGTCCTCGGCCAGAGTCGCAGGACCCTGGTGTCCTCCGCTCGGCTAGAGAGGCCCTTCGAATGGGCCCAGGACTGCCTGGCCATGTGATCAGTTCCTCCGCTCAGCCATTGTTTTCCCATTAAAACAGAGTGACAATCAGCCCCTGCCAGCTCGGAGGAGTCTTTGTAGGTTTGAAGTTAAGGAGAAGCAAAGCGCTTGGGTCACTTGACTTCCCCCAGATGAGCGCAGAACCCGTGAAGGCGGTTTCATGCTTCCCTGGGCTGGCGGAACGCAGGCTTCTCTCCCCCCATGGAGGGGCCGCTCTCAGCCTTTCCAAGACGAGAATCTGTCAGGGAAGATGGTCTTTGTGTGCCCCACCCTGGCCAGTCCCTGCCCGGGGACAGGGCATGCCTGGGCCTGGTCCAGGTGAGGAAAGATGCCCGTCCCCGCTCTGCCCCCAGCAGCCTCCTGCCAGGGACTGACCATCCAAGGCTCTCGAGGGAGCTCCCAATGGCCAGGCTGACCCCTGCCTAGTGATGAGCTGGGGCTCCTGCACTCTGAGCCCAGCTCAGCCCAGGCTCTGGGGATTCGGAATAGTAGACACCAGCGGAAGCAGGACTGCCGCTGACTCTGTACTTGGGTGCACGCGGAACCCACGGCTGTGAGTTGCCATACTCTCCCTGCCCCCCCGACATCTCCTGGGGCTGGGAAGAGGCACAGACCGGGTGACTGCGAGGGCCTGATGGCGGCGCAGGCGTTCGGGCCAGGCAGCTGGCGCCTGCTCTGACGGCACCCTCTAGTGACCGGTGGCCACGGCTGAAGCGGCGCCCGGGAACACGGGCTGGGCCTCCCATCCTGGGGACCATGGCCTGTCCCCAGAAGTCACGGGGGCTCTGGAAAATTAGTTGTCTGAGTTGCCAGGCAGATAATGCATGGAGCGAATAGAGCGTATGGAACCCAGCTCTGCAAGGCATTGCACTAAGCACTTTATAAGCCTTAAATCTTTTCAACCACAAAACCGCTGAGAGGTATTATTATTGTTTCCATTTTTCTGATGAGGAGACTGAAGTTCAGAGAAGTTAAGTGCCCCAACCCTCACAGATAGAAAGTGGCAGAAACAGGATTTGAACCCATGATCTTTCTTTTAAATTTTTCCTTATTAAATGTTTCCATTGCAATAGTAATACCCGCTCACTACAACTAGTGGGATGGAATTAAGCTGTGTAAAGAAAGGGTGTAACTTGCCACCACCCCACTCCTCCACAGGTAACCACAGTCAGCGGGGTGCTGTCCTCCACGATTTCTCCTGCCTCGTACAGACACACCGCACATGTGTAGTCGGAGGAGGTTTTGCTCGTTCTTGATTGTTTTGCCCAGGTAGTGTCGCACTATATCGTTACTCTGCGGCCTGCTTTGAAAACCAAGCTGAAATGGGAAGTCAGTTCCGGTTTCTCAGACCTTCTCGCAGGTTCCCCGTAGTCCTGTGGGACTCTTGGAAGTGTCCCCCGGCCCAAACCGGGCAATAGCTGATGGCTGCAGAGACAGGGATGCGGCGCTCCCTGGGAAGGGGCCCAGCTGGCCTCTGCACTCCAGCCTCATGGGAGTCTCCTGCACTTCCTTCCAGGCCCTGCCCTATTTGGCCCTCCTGATCGTGATGCTGTTCTTCATCTACGCGGTGATCGGGATGCAGGTAGGGAGGCTCCCACCACGGGGCTCCTGGCCTCCCGCTCTGTCTCTCCCCAGTTCCCAGCACCACATTCCCTAACGCCTTCCTCCCTCCCTTCTCCCTTTCATTCCTGACTGTCCCTCTCCCTCCTCTTCCATTTTCTGAGGCCCAAAAAGCCACAGGAATTGGAACTTTCCCCAAATGGATCTCCTGTAGGTAGCAGGAGAATGTCCCGGTACAGAATACACAGCCCAGAGAGCCTCCCTCCCCGAGGCCTGGGTTCTGCTCTTGGTAGAGGAAAGACACTCTCCAGTTATGCAAGGGGCCTCGGGACAGACACAGCCCCTTCTCAAGAAACAGCAGCAAGGTGTGTCTGTTTGTGTCCAGCACCCCTGTTTGTGTCCAGGTCTGATGGGCCTGAGAGTTACCCCAACCAGATTCATTTGAAGCTAATGGCTGAGAGGGAGGGAGGGAAGAAGGAAGCAAGGAAGGGCCAAATCAACACAAGGTTCACCGCATCAAATGTGCAGCAGTTTTCTGGGGCCTCCCCTCCCAGGTGCCCACTGCACCATTCACCGCAAACCTAGGGCTCTCCATTCCCGTCTTGGGGCTCCAGCTTGAGTCCCAAGGCCAAACTTGGCAGGGCGCCCACACTAGCCCAAAGCGCTTCCTCGGCCGCTCCTTCAGGAAGTCCCCTACTTGCTCATCGCAGAAAGACCCAAGATTCAGTTGCCAAAACCTTTTGAGACTAAAAGAGCTACCTTGATACCTGATAAAGGTGGCAGTTTCTAAGATAAGCACAGCTTTAAAAGACCAGGAAGAAAAGGGATTTCAGGAATGCATTAAGCTTGCCCTAGCCTCAGATCACTCACTCCACATCACTCCAAAATGCAAGAACTAAATTTGAAAGAGTGCTTGGACATGCAGAACTGAAATAGCAAAGAAAATAACGCAGTGCGTCCTGTGTCCTGTCAGAAGCAGGATCCCGGTCCCAGCATCCACCGCTCTCAGCCCCAGCTCCCACTGGGCTGCAGGGACCTTCCTGAGGCTGTGGGCACTTTGATTCTCATGCTTGTCCAGTGTAGGGATTTGGGCTCAGGGGCTGGGTGGGGCAGCAGGTGCCTGCCAGGTTGCATGGGAAGACTGTTCAGCTTGTGGCAGCCAGTTCCAGGGACACCTGAGACCCCTGAAGAGACCATTGAACAATGGTGGGAAATTAGGACCCTATCTGTCCACAAATCACTGAACACCTCTTCCTTCTCTCTCCTAGGTGTTTGGGAAAATTGCCCTGAATGATACCACAGAGATCAACCGGAACAACAACTTTCAGACCTTCCCCCAGGCCGTGCTGCTCCTCTTCAGGTGGGTCCCTGAAGACATAGGTGCACAGATACACACACACCTGCATGGTGCCACACTGTGGCCTGGTGGTAGAATGAAAGGGAACTGCTTCCCGGGGAGTAGGAAGGGAGAGGATGTGTTGCTTGCTCTCTGCCTGACAAGGAGGCCAGTGGGTCCATTGTCATTTATGATAACTTTCCACAGAGCAACCCACTATGCACTGGCACACCTGCTGGAAACCAGACAAAACCATTAGGGGAGCAAAAGTCACATGCTAAAAGCAGCCTGGCTTGGAATCTGAACAGGCCCAAAGCCAACCTGCCGACACGCTTTGTGACCTTGAGTGAGATATCTAACTTCTCTGAACCTCAGTTTTCTTGTCCAATAAGTACAGATATCTATCACTATACCAGCACCTGTGCCATTTGCCGTGCTGGGCGCTTATGTCCACATGCACTGGGCGTCATCCTCACTTAATCCTCAACACAATACTAGCAAACTGAATCCAATAGTACATGAGAAAGATGATACATCATGATCAAGTGGGTTTCATTCCAGGGGTGGTTCAACATATGCACATCAATAAATGTAAGACACCATATTAACAGAATGAAGGAAAAAAGACCCACATGATCATCTCAATAGATGCAGAAAAAGCATTTGACAAAATTCAACAT
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Task1_train_16937
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The gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
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GGCATTGCACTAAGCACTTTATAAGCCTTAAATCTTTTCAACCACAAAACCGCTGAGAGGTATTATTATTGTTTCCATTTTTCTGATGAGGAGACTGAAGTTCAGAGAAGTTAAGTGCCCCAACCCTCACAGATAGAAAGTGGCAGAAACAGGATTTGAACCCATGATCTTTCTTTTAAATTTTTCCTTATTAAATGTTTCCATTGCAATAGTAATACCCGCTCACTACAACTAGTGGGATGGAATTAAGCTGTGTAAAGAAAGGGTGTAACTTGCCACCACCCCACTCCTCCACAGGTAACCACAGTCAGCGGGGTGCTGTCCTCCACGATTTCTCCTGCCTCGTACAGACACACCGCACATGTGTAGTCGGAGGAGGTTTTGCTCGTTCTTGATTGTTTTGCCCAGGTAGTGTCGCACTATATCGTTACTCTGCGGCCTGCTTTGAAAACCAAGCTGAAATGGGAAGTCAGTTCCGGTTTCTCAGACCTTCTCGCAGGTTCCCCGTAGTCCTGTGGGACTCTTGGAAGTGTCCCCCGGCCCAAACCGGGCAATAGCTGATGGCTGCAGAGACAGGGATGCGGCGCTCCCTGGGAAGGGGCCCAGCTGGCCTCTGCACTCCAGCCTCATGGGAGTCTCCTGCACTTCCTTCCAGGCCCTGCCCTATGTGGCCCTCCTGATCGTGATGCTGTTCTTCATCTACGCGGTGATCGGGATGCAGGTAGGGAGGCTCCCACCACGGGGCTCCTGGCCTCCCGCTCTGTCTCTCCCCAGTTCCCAGCACCACATTCCCTAACGCCTTCCTCCCTCCCTTCTCCCTTTCATTCCTGACTGTCCCTCTCCCTCCTCTTCCATTTTCTGAGGCCCAAAAAGCCACAGGAATTGGAACTTTCCCCAAATGGATCTCCTGTAGGTAGCAGGAGAATGTCCCGGTACAGAATACACAGCCCAGAGAGCCTCCCTCCCCGAGGCCTGGGTTCTGCTCTTGGTAGAGGAAAGACACTCTCCAGTTATGCAAGGGGCCTCGGGACAGACACAGCCCCTTCTCAAGAAACAGCAGCAAGGTGTGTCTGTTTGTGTCCAGCACCCCTGTTTGTGTCCAGGTCTGATGGGCCTGAGAGTTACCCCAACCAGATTCATTTGAAGCTAATGGCTGAGAGGGAGGGAGGGAAGAAGGAAGCAAGGAAGGGCCAAATCAACACAAGGTTCACCGCATCAAATGTGCAGCAGTTTTCTGGGGCCTCCCCTCCCAGGTGCCCACTGCACCATTCACCGCAAACCTAGGGCTCTCCATTCCCGTCTTGGGGCTCCAGCTTGAGTCCCAAGGCCAAACTTGGCAGGGCGCCCACACTAGCCCAAAGCGCTTCCTCGGCCGCTCCTTCAGGAAGTCCCCTACTTGCTCATCGCAGAAAGACCCAAGATTCAGTTGCCAAAACCTTTTGAGACTAAAAGAGCTACCTTGATACCTGATAAAGGTGGCAGTTTCTAAGATAAGCACAGCTTTAAAAGACCAGGAAGAAAAGGGATTTCAGGAATGCATTAAGCTTGCCCTAGCCTCAGATCACTCACTCCACATCACTCCAAAATGCAAGAACTAAATTTGAAAGAGTGCTTGGACATGCAGAACTGAAATAGCAAAGAAAATAACGCAGTGCGTCCTGTGTCCTGTCAGAAGCAGGATCCCGGTCCCAGCATCCACCGCTCTCAGCCCCAGCTCCCACTGGGCTGCAGGGACCTTCCTGAGGCTGTGGGCACTTTGATTCTCATGCTTGTCCAGTGTAGGGATTTGGGCTCAGGGGCTGGGTGGGGCAGCAGGTGCCTGCCAGGTTGCATGGGAAGACTGTTCAGCTTGTGGCAGCCAGTTCCAGGGACACCTGAGACCCCTGAAGAGACCATTGAACAATGGTGGGAAATTAGGACCCTATCTGTCCACAAATCACTGAACACCTCTTCCTTCTCTCTCCTAGGTGTTTGGGAAAATTGCCCTGAATGATACCACAGAGATCAACCGGAACAACAACTTTCAGACCTTCCCCCAGGCCGTGCTGCTCCTCTTCAGGTGGGTCCCTGAAGACATAGGTGCACAGATACACACACACCTGCATGGTGCCACACTGTGGCCTGGTGGTAGAATGAAAGGGAACTGCTTCCCGGGGAGTAGGAAGGGAGAGGATGTGTTGCTTGCTCTCTGCCTGACAAGGAGGCCAGTGGGTCCATTGTCATTTATGATAACTTTCCACAGAGCAACCCACTATGCACTGGCACACCTGCTGGAAACCAGACAAAACCATTAGGGGAGCAAAAGTCACATGCTAAAAGCAGCCTGGCTTGGAATCTGAACAGGCCCAAAGCCAACCTGCCGACACGCTTTGTGACCTTGAGTGAGATATCTAACTTCTCTGAACCTCAGTTTTCTTGTCCAATAAGTACAGATATCTATCACTATACCAGCACCTGTGCCATTTGCCGTGCTGGGCGCTTATGTCCACATGCACTGGGCGTCATCCTCACTTAATCCTCAACACAATACTAGCAAACTGAATCCAATAGTACATGAGAAAGATGATACATCATGATCAAGTGGGTTTCATTCCAGGGGTGGTTCAACATATGCACATCAATAAATGTAAGACACCATATTAACAGAATGAAGGAAAAAAGACCCACATGATCATCTCAATAGATGCAGAAAAAGCATTTGACAAAATTCAACATCCTTTCATGATAAAAACTCTCAACAAATTAGGCATAGAAGGATGGTACTGCAACACAATAAAGGCCACGTATGACAAGGCCACAGCTAACATCATACTTAGTGGTGAAAAGTTGAAAGCTTTTCCTTTAAGATGAGGAACAAGACAAAGATGCCCACTCTCACCACTTCTATTCAACATAATAATACTGGAAGTCCTAGCCAGAGCAATTAAGCAAGTTTTAAAAAGTTATCCAAATAGGAAAGGAAGAAGTGAAATTTTCTCTGTTTGCTGATAACATGATCTTATATATAGAAAATCCTAAAGACCACCAAAATCTATTACAACTGATAAACTAATTCAGTAAAGTTGCAGGACACAAAATCAACCCACAAAAATGAGTAGCATTTATTTACACTAACAATGAACTATCTGAAAGAGAAATTAAGAAATCAGTCCCTTTTACAATAGCATCAAAAAACTAAAATAAAATACTTAGGAATAAATTTAATGATCTAAACTGAGAACTCATAAAACATTGATAAAAGAAATAGTTGGTGACACAAATAAATGGAAAGATATCTTGTGTTCATGGATTGGAATAATTAATATTGTTAAAATGACCATACTACCCAAAGCAATCTACAAATTCAATGCAATTGCTATCAAAATGCCAATGTCATTTTTTATGGAAATGGAAAAAACAATCCTAAAATTCATATGGAACCACAAAAGACCCTGAATAGCCAAAGCAATCTTGAGCAAGAAGAACAAAGCTGGAGGCACCACAATGCATGATATAAAAATCTGTTACAAAGCTACAGTAACCAAAACAGCATGGTACTGGCATAAAAACGGACACATAGAGCAATGGCTCAGGAGAGAAACCTGAGAAATAAACCCACTCATTTACAGCCAGTTGATTTTCGACAAAGGTGCCAAGAACACACAGTGGAGAAAGAACAGCCTTGTTAATAAATAGTGTTGCCAAAGAGGAAAAAGGGAATTACTTTCAAAATCATCATTAGCATTAGACTTCTCATTAACAAAAGTATATATGTAATAGAAGACAATGGAATAATATGTTCAAAATTATGAGGAAAAATGTATTTTTGAATCTGGCCCTCTAAATACAGTCTAATCAGCATTCCAGTAGTCAAGCAAAATAGAGACATTTCCAAGTGTTTAAGGACCCATAAAGTTTACTCCCCAACATAAGTCTTCCCTGGAGCAATTACTCAGGCTGTACTTCCACAGAATGAAAAATGAATCAAAGAAATAGAATGAGCAGAGTAATGATATGAGTAAAAAATAATGAAGTTTATAGTTATGAGTTATGAACAAGGACATTATAAAGTTTATATAAAGTCTAGATACTTGTTAAGGGGAAAATGTACAAAACC
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GGCATTGCACTAAGCACTTTATAAGCCTTAAATCTTTTCAACCACAAAACCGCTGAGAGGTATTATTATTGTTTCCATTTTTCTGATGAGGAGACTGAAGTTCAGAGAAGTTAAGTGCCCCAACCCTCACAGATAGAAAGTGGCAGAAACAGGATTTGAACCCATGATCTTTCTTTTAAATTTTTCCTTATTAAATGTTTCCATTGCAATAGTAATACCCGCTCACTACAACTAGTGGGATGGAATTAAGCTGTGTAAAGAAAGGGTGTAACTTGCCACCACCCCACTCCTCCACAGGTAACCACAGTCAGCGGGGTGCTGTCCTCCACGATTTCTCCTGCCTCGTACAGACACACCGCACATGTGTAGTCGGAGGAGGTTTTGCTCGTTCTTGATTGTTTTGCCCAGGTAGTGTCGCACTATATCGTTACTCTGCGGCCTGCTTTGAAAACCAAGCTGAAATGGGAAGTCAGTTCCGGTTTCTCAGACCTTCTCGCAGGTTCCCCGTAGTCCTGTGGGACTCTTGGAAGTGTCCCCCGGCCCAAACCGGGCAATAGCTGATGGCTGCAGAGACAGGGATGCGGCGCTCCCTGGGAAGGGGCCCAGCTGGCCTCTGCACTCCAGCCTCATGGGAGTCTCCTGCACTTCCTTCCAGGCCCTGCCCTATGTGGCCCTCCTGATCGTGATGCTGTTCTTCATCTACGCGGTGATCGGGATGCAGGTAGGGAGGCTCCCACCACGGGGCTCCTGGCCTCCCGCTCTGTCTCTCCCCAGTTCCCAGCACCACATTCCCTAACGCCTTCCTCCCTCCCTTCTCCCTTTCATTCCTGACTGTCCCTCTCCCTCCTCTTCCATTTTCTGAGGCCCAAAAAGCCACAGGAATTGGAACTTTCCCCAAATGGATCTCCTGTAGGTAGCAGGAGAATGTCCCGGTACAGAATACACAGCCCAGAGAGCCTCCCTCCCCGAGGCCTGGGTTCTGCTCTTGGTAGAGGAAAGACACTCTCCAGTTATGCAAGGGGCCTCGGGACAGACACAGCCCCTTCTCAAGAAACAGCAGCAAGGTGTGTCTGTTTGTGTCCAGCACCCCTGTTTGTGTCCAGGTCTGATGGGCCTGAGAGTTACCCCAACCAGATTCATTTGAAGCTAATGGCTGAGAGGGAGGGAGGGAAGAAGGAAGCAAGGAAGGGCCAAATCAACACAAGGTTCACCGCATCAAATGTGCAGCAGTTTTCTGGGGCCTCCCCTCCCAGGTGCCCACTGCACCATTCACCGCAAACCTAGGGCTCTCCATTCCCGTCTTGGGGCTCCAGCTTGAGTCCCAAGGCCAAACTTGGCAGGGCGCCCACACTAGCCCAAAGCGCTTCCTCGGCCGCTCCTTCAGGAAGTCCCCTACTTGCTCATCGCAGAAAGACCCAAGATTCAGTTGCCAAAACCTTTTGAGACTAAAAGAGCTACCTTGATACCTGATAAAGGTGGCAGTTTCTAAGATAAGCACAGCTTTAAAAGACCAGGAAGAAAAGGGATTTCAGGAATGCATTAAGCTTGCCCTAGCCTCAGATCACTCACTCCACATCACTCCAAAATGCAAGAACTAAATTTGAAAGAGTGCTTGGACATGCAGAACTGAAATAGCAAAGAAAATAACGCAGTGCGTCCTGTGTCCTGTCAGAAGCAGGATCCCGGTCCCAGCATCCACCGCTCTCAGCCCCAGCTCCCACTGGGCTGCAGGGACCTTCCTGAGGCTGTGGGCACTTTGATTCTCATGCTTGTCCAGTGTAGGGATTTGGGCTCAGGGGCTGGGTGGGGCAGCAGGTGCCTGCCAGGTTGCATGGGAAGACTGTTCAGCTTGTGGCAGCCAGTTCCAGGGACACCTGAGACCCCTGAAGAGACCATTGAACAATGGTGGGAAATTAGGACCCTATCTGTCCACAAATCACTGAACACCTCTTCCTTCTCTCTCCTAGGTGTTTGGGAAAATTGCCCTGAATGATACCACAGAGATCAACCGGAACAACAACTTTCAGACCTTCCCCCAGGCCGTGCTGGTCCTCTTCAGGTGGGTCCCTGAAGACATAGGTGCACAGATACACACACACCTGCATGGTGCCACACTGTGGCCTGGTGGTAGAATGAAAGGGAACTGCTTCCCGGGGAGTAGGAAGGGAGAGGATGTGTTGCTTGCTCTCTGCCTGACAAGGAGGCCAGTGGGTCCATTGTCATTTATGATAACTTTCCACAGAGCAACCCACTATGCACTGGCACACCTGCTGGAAACCAGACAAAACCATTAGGGGAGCAAAAGTCACATGCTAAAAGCAGCCTGGCTTGGAATCTGAACAGGCCCAAAGCCAACCTGCCGACACGCTTTGTGACCTTGAGTGAGATATCTAACTTCTCTGAACCTCAGTTTTCTTGTCCAATAAGTACAGATATCTATCACTATACCAGCACCTGTGCCATTTGCCGTGCTGGGCGCTTATGTCCACATGCACTGGGCGTCATCCTCACTTAATCCTCAACACAATACTAGCAAACTGAATCCAATAGTACATGAGAAAGATGATACATCATGATCAAGTGGGTTTCATTCCAGGGGTGGTTCAACATATGCACATCAATAAATGTAAGACACCATATTAACAGAATGAAGGAAAAAAGACCCACATGATCATCTCAATAGATGCAGAAAAAGCATTTGACAAAATTCAACATCCTTTCATGATAAAAACTCTCAACAAATTAGGCATAGAAGGATGGTACTGCAACACAATAAAGGCCACGTATGACAAGGCCACAGCTAACATCATACTTAGTGGTGAAAAGTTGAAAGCTTTTCCTTTAAGATGAGGAACAAGACAAAGATGCCCACTCTCACCACTTCTATTCAACATAATAATACTGGAAGTCCTAGCCAGAGCAATTAAGCAAGTTTTAAAAAGTTATCCAAATAGGAAAGGAAGAAGTGAAATTTTCTCTGTTTGCTGATAACATGATCTTATATATAGAAAATCCTAAAGACCACCAAAATCTATTACAACTGATAAACTAATTCAGTAAAGTTGCAGGACACAAAATCAACCCACAAAAATGAGTAGCATTTATTTACACTAACAATGAACTATCTGAAAGAGAAATTAAGAAATCAGTCCCTTTTACAATAGCATCAAAAAACTAAAATAAAATACTTAGGAATAAATTTAATGATCTAAACTGAGAACTCATAAAACATTGATAAAAGAAATAGTTGGTGACACAAATAAATGGAAAGATATCTTGTGTTCATGGATTGGAATAATTAATATTGTTAAAATGACCATACTACCCAAAGCAATCTACAAATTCAATGCAATTGCTATCAAAATGCCAATGTCATTTTTTATGGAAATGGAAAAAACAATCCTAAAATTCATATGGAACCACAAAAGACCCTGAATAGCCAAAGCAATCTTGAGCAAGAAGAACAAAGCTGGAGGCACCACAATGCATGATATAAAAATCTGTTACAAAGCTACAGTAACCAAAACAGCATGGTACTGGCATAAAAACGGACACATAGAGCAATGGCTCAGGAGAGAAACCTGAGAAATAAACCCACTCATTTACAGCCAGTTGATTTTCGACAAAGGTGCCAAGAACACACAGTGGAGAAAGAACAGCCTTGTTAATAAATAGTGTTGCCAAAGAGGAAAAAGGGAATTACTTTCAAAATCATCATTAGCATTAGACTTCTCATTAACAAAAGTATATATGTAATAGAAGACAATGGAATAATATGTTCAAAATTATGAGGAAAAATGTATTTTTGAATCTGGCCCTCTAAATACAGTCTAATCAGCATTCCAGTAGTCAAGCAAAATAGAGACATTTCCAAGTGTTTAAGGACCCATAAAGTTTACTCCCCAACATAAGTCTTCCCTGGAGCAATTACTCAGGCTGTACTTCCACAGAATGAAAAATGAATCAAAGAAATAGAATGAGCAGAGTAATGATATGAGTAAAAAATAATGAAGTTTATAGTTATGAGTTATGAACAAGGACATTATAAAGTTTATATAAAGTCTAGATACTTGTTAAGGGGAAAATGTACAAAACC
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Task1_train_16938
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Consider this mutation in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Long qt syndrome 8
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GGACTTTGGGGACTCGGAGAAGGGCAGGAGGATGGTAGGGATCAAAGACGACTGCTTGGGTGATGGGTGCAGCGAAATGTCAGAGATCACCACTGAAGGGCTTGTCCGTGTAAGCAAAAACCACCTGTTCCCAAAAAACTATTGGAAATTTTAAAAAAGAATAGAGAATAGAGTATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGGCTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAGAATAGAGTATCTTAAGCACCCTACAAACGAACAAGAAGACAACCTGAATCAAACAAGCAAAAACATGAACATGCAATTTAATGGAAGATAAAATTTAAGTTCTCAACCCACTAATCATTTTATAACCAAATTAAAACAGCAGTGACATATTATCTCACACAAATTATATGAGCAACATTTAAAACAATTCACTAATGAACTGATGAGTTTGTACAGTAGTGTTATTTCTCCTACACTGGTAATAGGAGTCTAAGTTGGACAAATCCTTGGAGGTCATGGAATATCTAGTAAAAATAAAGATGCATGTAGTTTAACTGGCAATTCCACTTCTAAGTGGATACCCAAGATATAAATCTGCATGTTTATTGCAGTGTTATTTGTACTAGTAAAAGAAAAAATGAAAAACCTAAATGTTCCTTAACAGGACAGTGGATTTTTTTACGGTAAGTTCATAGAGCATACTCCTGTACAGCAGTTAAGGTGAATGAACTGGAACTAAAATACATCCAAAGGGCTAAGTCTCAAAAACATCACATGGATTGCAAAAACAGCAAGTTTTCGGAAAAGGTGCAATTTGTTACTGTTTATATAAAATTTTAATAATGCTATGTGTTTCATATTTAGCAAATATATCAGAGCATTCAGGGAATGATGAACATCAAGTTCATTTTAGTAACTCCCTCTGGGGAAGGAGGAAAGGGACAGGTGGGGAGGGATGCAGAGGGCCCTCCTTGGCATCTGTAGGATGGGCTGCATGAACGTGGCTCTCCCTCCCCTCCAGGTGTGCCACCGGGGAGGCCTGGCAGGACATCATGCTGGCCTGCATGCCAGGCAAGAAGTGTGCCCCAGAGTCCGAGCCCAGCAACAGCACGGAGGGTGAAACACCCTGTGGTAGCAGCTTTGCTGTCTTCTACTTCATCAGCTTCTACATGCTCTGTGCCTTCCTGGTAAGCCAAGGGGGAACTCAACAGCCAGCAGCCATGACTGCCCAGTTCCAGGGCAGTCTGAACCGTCCATCTCTGCAGCTCATGGTCAGGGCAACCCTATCAGAGGAGCTGGCTTGGGAAGACTAAGTTGGCAGGAGTGTCCAGCCACATGGAGAGAAAGGCAGAAAGCCCTGGGCCAGAGTGAGCTCCACCAGCATCTTGCTTGTCTGTTCTTGGCTGTTGTCATGGTGGCATTGTCCCAGAGGACAACGGGGACATGTGGGGGCCTAGAAAGAACTGTACTTTTTTGGCATCTTGCTGAGGAGTGAGGAAAAGGGGATAAAGTCCCCCTCTGTCCTGCACAGCCCTGCCCAGCAGCTCGGTAGGAGGGAAGCTGTCCAGCCCACCTGTGGGTTCATCACACACAACTCTCAGGGAAACTGTGTCAAGTTTATGTCCAAGAGACCCAGGTTCTCAGGCTGGTAGGATGGATGACTGGTCTTTAGAAATGTTGGCTTCTGCCATCAGTAGGCCCCAGCTGGCAAGGGGGTTCCAGAGGCAGGTGTGTAGGAAGGTCTTCTCACAGCACCTCATTGTACTGTTCCCCACAGATCATCAACCTCTTTGTAGCTGTCATCATGGACAACTTTGACTACCTGACAAGGGACTGGTCCATCCTTGGTCCCCACCACCTGGATGAGTTTAAAAGAATCTGGGCAGAGTATGACCCTGAAGCCAAGTAAGTTCCCAGAGGGAAATCCTGATTCCCCAAGCTGAGAGAGGGTATAGCTGACCATACCTGCAGGAGGGGCTCAAGGTTGGCCAACACTGGGTGGATCAATTAGAAACACTGGATTGTATCACACCCTAGGGTGAAAGGTCAAGGGCCAGCAGGAGGAGGCCCGGCACCTTCAATTAAGTCAAGAATGTATCTACTAGGTTGGGTGGGGTGGCTCACACCTGTAATCCCAGCATTTTAGAAGGCAAAGGTGGTTGAATCACTCGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGACATGGTGGCACATGCCTATAATCCCAGCTACTCAGGAGGCCAAGGCATGAGAATTGCCTGAACCTGGGAGGTGGAGGTTGCAGCGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTAAAAAAGAAAAAGAAAATAATATATCTACTATATTCAGTTGAATGGAAGGATAGGAAATTCTAGTATCAGGAATAACTAGTAAGTGCTCAAGTTAGGATAGGTAGGGCCGGGGAAAATCTTGATTCCATTCCCGCTTCTGGTCTAAAGATCAATCACATTCGGCTGACCCTCAGTAAATACCTTTTGGTCAGAAGGTTAGTTCATTCAATCAGCAAGTATATATTGAGAATTTTGTTGCACTGCTAAAATCCCTTCCACCTTGAACATAGCATGGGCAGAAAATGATTCATTAAAATCTAAACACGTGTATATGTATATTGGTTTGGGGCTGTGTCATGCAATTCTGCAACTCTGTACTGAGTGTGACTAATAGGGCTACCACACTGTGCAGTGTTGCCCATATGAGTGGGCCCTACCCCTCAGGCGCATGCGTCCTGGGCTGCTGGCAGAGACCGTGGCTCTCTGATGCCCTGTCCCTCCTCTCCCTCCTCTTCTAGGGGTCGTATCAAACACCTGGATGTGGTGACCCTCCTCCGGCGGATTCAGCCGCCACTAGGTTTTGGGAAGCTGTGCCCTCACCGCGTGGCTTGCAAAGTAAGAGATAACGGGGTTCATGGGAGGGAGAGGGAAAATAGGGGAAGTGAAGTGCCCATTTCTTGTGATCCTTTAAGGGAATGAACATACTAGTTTATGTGCCTAAAGATTACATTTTAAGGGTCCTTCCAGCTCTAAATTCTCAGACTCTATGAGGGAATAACAGAGTGAATGCCTCCTGTCCTACTGAGCCAGGGACCCAGTCCTGGATAAAGGACTTGTTCAGTCCATCCCACTGCACCATCCGGGCATCCTGGGGTGGGAGACTTCCCAGCCTAGGCTAGAGGGGTTCGGCGTTCTTTTCCTGGAGTTGGAAGGCCATTAGAAAGCCCAGGCATTGACTTCAGGGGTCTTTGAGTCCTAAAATTTTTCATAAAATCACTAAAATACAAAGTTTACCAGGGAGAGGATTTCTCACTTTAATCAGATTCCTTAGTGAGACCATGACCCAAAAAAAAAGTGTCGTTTCCTTTTCTCCCTCCCCTCCACCATGGCCACTCCACGCTCCTTTTCTCCCTCCTCTCCACCGTGGCCATTCCGTGCTCCTTGTTGGGGCAATAATGAGCTGACAGAGAGCTGGGGGAAGGGAGACCAGAGGGCTGGAGAGAGGAGGAAACTCAGATGGCAGGAGGATTCGGCTCTGTGAGAATCCACTCATGGAAAACGCAGATTGAGGGAACATAGAACCTTCTACTTGTGCTCTGTTTACTGAGTTTCTTCTCATTTGTGCCTCCACTTTGCTCCAAAAACAAACAAACAACAACAACAACAAAAACAGATTTTAAGAGATTTCCAAGGGCATAGAAAATATCAGAAAAGAGCATAAAATAAATGCAAGGTACAAACACCATGCAAGGCAAGGGTGGGGAGGG
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GGACTTTGGGGACTCGGAGAAGGGCAGGAGGATGGTAGGGATCAAAGACGACTGCTTGGGTGATGGGTGCAGCGAAATGTCAGAGATCACCACTGAAGGGCTTGTCCGTGTAAGCAAAAACCACCTGTTCCCAAAAAACTATTGGAAATTTTAAAAAAGAATAGAGAATAGAGTATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGGCTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAGAATAGAGTATCTTAAGCACCCTACAAACGAACAAGAAGACAACCTGAATCAAACAAGCAAAAACATGAACATGCAATTTAATGGAAGATAAAATTTAAGTTCTCAACCCACTAATCATTTTATAACCAAATTAAAACAGCAGTGACATATTATCTCACACAAATTATATGAGCAACATTTAAAACAATTCACTAATGAACTGATGAGTTTGTACAGTAGTGTTATTTCTCCTACACTGGTAATAGGAGTCTAAGTTGGACAAATCCTTGGAGGTCATGGAATATCTAGTAAAAATAAAGATGCATGTAGTTTAACTGGCAATTCCACTTCTAAGTGGATACCCAAGATATAAATCTGCATGTTTATTGCAGTGTTATTTGTACTAGTAAAAGAAAAAATGAAAAACCTAAATGTTCCTTAACAGGACAGTGGATTTTTTTACGGTAAGTTCATAGAGCATACTCCTGTACAGCAGTTAAGGTGAATGAACTGGAACTAAAATACATCCAAAGGGCTAAGTCTCAAAAACATCACATGGATTGCAAAAACAGCAAGTTTTCGGAAAAGGTGCAATTTGTTACTGTTTATATAAAATTTTAATAATGCTATGTGTTTCATATTTAGCAAATATATCAGAGCATTCAGGGAATGATGAACATCAAGTTCATTTTAGTAACTCCCTCTGGGGAAGGAGGAAAGGGACAGGTGGGGAGGGATGCAGAGGGCCCTCCTTGGCATCTGTAGGATGGGCTGCATGAACGTGGCTCTCCCTCCCCTCCAGGTGTGCCACCGGGGAGGCCTGGCAGGACATCATGCTGGCCTGCATGCCAGGCAAGAAGTGTGCCCCAGAGTCCGAGCCCAGCAACAGCACGGAGGGTGAAACACCCTGTGGTAGCAGCTTTGCTGTCTTCTACTTCATCAGCTTCTACATGCTCTGTGCCTTCCTGGTAAGCCAAGGGGGAACTCAACAGCCAGCAGCCATGACTGCCCAGTTCCAGGGCAGTCTGAACCGTCCATCTCTGCAGCTCATGGTCAGGGCAACCCTATCAGAGGAGCTGGCTTGGGAAGACTAAGTTGGCAGGAGTGTCCAGCCACATGGAGAGAAAGGCAGAAAGCCCTGGGCCAGAGTGAGCTCCACCAGCATCTTGCTTGTCTGTTCTTGGCTGTTGTCATGGTGGCATTGTCCCAGAGGACAACGGGGACATGTGGGGGCCTAGAAAGAACTGTACTTTTTTGGCATCTTGCTGAGGAGTGAGGAAAAGGGGATAAAGTCCCCCTCTGTCCTGCACAGCCCTGCCCAGCAGCTCGGTAGGAGGGAAGCTGTCCAGCCCACCTGTGGGTTCATCACACACAACTCTCAGGGAAACTGTGTCAAGTTTATGTCCAAGAGACCCAGGTTCTCAGGCTGGTAGGATGGATGACTGGTCTTTAGAAATGTTGGCTTCTGCCATCAGTAGGCCCCAGCTGGCAAGGGGGTTCCAGAGGCAGGTGTGTAGGAAGGTCTTCTCACAGCACCTCATTGTACTGTTCCCCACAGATCATCAACCTCTTTGTAGCTGTCATGATGGACAACTTTGACTACCTGACAAGGGACTGGTCCATCCTTGGTCCCCACCACCTGGATGAGTTTAAAAGAATCTGGGCAGAGTATGACCCTGAAGCCAAGTAAGTTCCCAGAGGGAAATCCTGATTCCCCAAGCTGAGAGAGGGTATAGCTGACCATACCTGCAGGAGGGGCTCAAGGTTGGCCAACACTGGGTGGATCAATTAGAAACACTGGATTGTATCACACCCTAGGGTGAAAGGTCAAGGGCCAGCAGGAGGAGGCCCGGCACCTTCAATTAAGTCAAGAATGTATCTACTAGGTTGGGTGGGGTGGCTCACACCTGTAATCCCAGCATTTTAGAAGGCAAAGGTGGTTGAATCACTCGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGACATGGTGGCACATGCCTATAATCCCAGCTACTCAGGAGGCCAAGGCATGAGAATTGCCTGAACCTGGGAGGTGGAGGTTGCAGCGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTAAAAAAGAAAAAGAAAATAATATATCTACTATATTCAGTTGAATGGAAGGATAGGAAATTCTAGTATCAGGAATAACTAGTAAGTGCTCAAGTTAGGATAGGTAGGGCCGGGGAAAATCTTGATTCCATTCCCGCTTCTGGTCTAAAGATCAATCACATTCGGCTGACCCTCAGTAAATACCTTTTGGTCAGAAGGTTAGTTCATTCAATCAGCAAGTATATATTGAGAATTTTGTTGCACTGCTAAAATCCCTTCCACCTTGAACATAGCATGGGCAGAAAATGATTCATTAAAATCTAAACACGTGTATATGTATATTGGTTTGGGGCTGTGTCATGCAATTCTGCAACTCTGTACTGAGTGTGACTAATAGGGCTACCACACTGTGCAGTGTTGCCCATATGAGTGGGCCCTACCCCTCAGGCGCATGCGTCCTGGGCTGCTGGCAGAGACCGTGGCTCTCTGATGCCCTGTCCCTCCTCTCCCTCCTCTTCTAGGGGTCGTATCAAACACCTGGATGTGGTGACCCTCCTCCGGCGGATTCAGCCGCCACTAGGTTTTGGGAAGCTGTGCCCTCACCGCGTGGCTTGCAAAGTAAGAGATAACGGGGTTCATGGGAGGGAGAGGGAAAATAGGGGAAGTGAAGTGCCCATTTCTTGTGATCCTTTAAGGGAATGAACATACTAGTTTATGTGCCTAAAGATTACATTTTAAGGGTCCTTCCAGCTCTAAATTCTCAGACTCTATGAGGGAATAACAGAGTGAATGCCTCCTGTCCTACTGAGCCAGGGACCCAGTCCTGGATAAAGGACTTGTTCAGTCCATCCCACTGCACCATCCGGGCATCCTGGGGTGGGAGACTTCCCAGCCTAGGCTAGAGGGGTTCGGCGTTCTTTTCCTGGAGTTGGAAGGCCATTAGAAAGCCCAGGCATTGACTTCAGGGGTCTTTGAGTCCTAAAATTTTTCATAAAATCACTAAAATACAAAGTTTACCAGGGAGAGGATTTCTCACTTTAATCAGATTCCTTAGTGAGACCATGACCCAAAAAAAAAGTGTCGTTTCCTTTTCTCCCTCCCCTCCACCATGGCCACTCCACGCTCCTTTTCTCCCTCCTCTCCACCGTGGCCATTCCGTGCTCCTTGTTGGGGCAATAATGAGCTGACAGAGAGCTGGGGGAAGGGAGACCAGAGGGCTGGAGAGAGGAGGAAACTCAGATGGCAGGAGGATTCGGCTCTGTGAGAATCCACTCATGGAAAACGCAGATTGAGGGAACATAGAACCTTCTACTTGTGCTCTGTTTACTGAGTTTCTTCTCATTTGTGCCTCCACTTTGCTCCAAAAACAAACAAACAACAACAACAACAAAAACAGATTTTAAGAGATTTCCAAGGGCATAGAAAATATCAGAAAAGAGCATAAAATAAATGCAAGGTACAAACACCATGCAAGGCAAGGGTGGGGAGGG
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Task1_train_16939
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This mutation occurs in TULP3 (TUB like protein 3) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hepatorenocardiac degenerative fibrosis
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CTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACGCCATCTCAAAATAAAATAAGAATAATCTGCTTGGCTTGACAGGCATTTTTAATACCTAGTGCAGGCCTTATTTAACCACAACTAATTTTCACTGTATGTAATATAGTGCTATGCCCTCACTGGGAAATAAATATGTGTTGGTGCTGACAAAGTTGAACAGTTTGTTCACAGTTATCTCAAATCACATTTAAGACTCAAGAGTAAGAGGCCGGGCGTGGTGGCTCACTCCTGTAGTCACAGCACCTTGGGAGGCCAAGATGGGCGGATCACCTGAGGTCGGGAATTCGAGACCAACATGGAGAAACCCCGTCTCGACTAAAAAAAAAAAAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTATAATCCCAGCTACTCAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCTGAGATTGTGCCATTATACTCCAGCCTGGGCAACAAGAGTGAAACTCTGGTCCCAAAAAAAAAATAGTTAAGAGTAAACTCTCAAGCCAAGAGATTCTGTTTTAAATGTAGGTGTTTAAAGAAGGTATAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTAGCCAACTTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGGCTGAGGCACAGGAATCGCTTGAACCCAGGAGGTGGAGATTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGCGACAGAGCGTGACTCTGTCTCAAAAAAAAAAAGAGAAGTATAAAGAGATATAATATTACTTTCCTGTTTTTGATTCTGTTTACAGCAAAGTAATAAAATTATTTTTGGTACACCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAGGCAGAGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAACGGCGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGATCCACTGCCCCGGCTGATACAGCTGATATTGTCAGCATCTTACATTCCCAAGAAAGTCTCATGTTATAAAAGAATGTGGTCTCTATTTTTTTCCTGTTTCCAAGTTCTGCTTTGTTTTCCTATCTTCCAGGAAACAAACGTACTTGGATTTAAAGGTCCTAGGAAAATGTCTGTGATCATTCCTGGAATGACACTGAATCATAAGCAGATCCCCTATCAGCCACAAAACGTGAGTAAGAATGTATTTAAATCAGTGAAAGACTCTAAAAGACAGTAGTACAATACACAGAGATTAATACAAAAAAAAAAAAAAAGATTGAGCTTCCAGAGCCCCACACTGGAGATAGCTCCATACACTTCTTTAGGAAAGCTGCCCCTCCAAAACCTCAGGATAAGAGCAGTTGCAGAGTCATTGCCTTGAAACCATTTTTTCTACAAAGAGAAATGCTGGATGATGTAGAATAATTTTAAAAAAAACCTGTCTTCATTGTTGGCTTTCATTCTTCGCTTCTGGTTTACCCTTTCTGAAATGGAGAAAGTATTCTCCTACTCTACCTTCTACCTCGTAGAGTTGGAGTTCTCAGTACAAAGTAATGATTTTCCCTTTGGACAGAACCATGACAGTTTGCTCTCAAGGTGGCAGAACAGAACTATGGAAAATCTGGTTGAGCTGCACAACAAGGCCCCCGTCTGGAACAGTGACACTCAGTCCTATGTCCTCAACTTCCGTGGCCGGGTCACTCAGGCGTCTGTGAAGAACTTCCAGATAGTCCACAAAAATGACCGTAAGCCTCCAGGAGGGGTTGGGTGGGAAGAGGAGGACAGATGCTCTTACAGGATGGGAATGCACATTCCCTGTACATGATAGGAAGTGACAGTCAGCAGATAATCATGGAGGAGAGACAGGATTTCTTTGGAAAGATGAAACTACAGTTTTAGAGAAAACTTGTAAATCACTGTGTTGAGGAGGGGAGAGGAGTGTGAGAGAGATGCTATAGCAAATCAGAGAAGTTGGCTGGGCACCATGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTGAGACCAGCCTGGGCAACATGGTGTGAAACCCCATCTCTACAAAAAATAGAAAAATTAGCTGGGCGTGGTGGCAGGCACTTGTAGTCCCAGCTACCCGGGAGGCTGAGGTGGGAGCATCACTTGAGCCAGGAGGTCGAGGCTGCAGTGAGCTGAGATTGCATCACTGCTCTCCAGCCTGGGTGACAGCAAGAACCTGTCTCAGAAAAAAATAAAAAATCAGAGAAGTCATAGAGTAGGTTGTTTGGGAAACAAAGGCAAATGACCCCAATAAAGGTTCCTGGCAGCTCTAGCCTGCGGAGTTTATGACATTCCCAGCAAGCTGCTCTCTATTCTACAGAAACCTGGTGATTAACTGGCCTATTTGGAGGATTCTTTCTGTATCATAAATAGGATCCCAGCACTTTGGGAGGCCGAGGCAGGAGAATCACTTGAGCCTAGGTGTTTGAGACCAGCTTGAGCAACATAGTGAGACCCTATCTTCACAAAAAGTAAAATATTAGCCAGGCGTGGTGGCGCTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGACGGGAGGTCAAGGCTGCAGTGAGCTGTGGTCATTCCACTAGGCTCCAGCCAGGGCGACAGAGCAAAACCCCATCTAAGAAAAGGAAGAAAAAGAAAAAGATTTCCCTGAGTGCAACCACATTATATTCTAACATGTTGATTTCTTTCTGTTTCTAGCTGATTATATAGTCATGCAGTTTGGACGTGTGGCAGATGACGTGTTCACACTGGATTACAACTACCCACTTTGTGCAGTACAGGCCTTTGGCATCGGTCTTTCTAGCTTTGACAGTAAGCTGGCGTGTGAATGAGAGAACAGTCAGGCAGGGAGCCCTTCTCCCCACAGAGCTTTCAGGAGCAGACAGTGGCCTCCCCTTCCCCTCCCTGCCCCAGGACTTAAAGAGCAATAGTTTGCCCCTTTTGGAATGATCTCTGAATATATAAAACACACACACAAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACACCCCGCGCACTCTCACTCCTTTTCCAGGTTTCATAGACTTGGTGAGGGATCACAGCTTAGCATGGGTGAGAGATGATTTAAAGCACAGGGAGATTCTTGTCACATTGGGGTCTCCAAAGCTAGAATGGGATTTCATGTGCTTGGAAACTTGCAGTAGAATCAGGGACTGACATCGCAGTTCCTCTCCTCTCTTCATTCCCTCACAGCAGATTGGCCGGCACCAATCTTAGTCAAGAGTGGCTGTGATCACATTTGTGATCAATTATGTGAGAATTTTATATAATTGTCTTCATTTCAATTAAGGCTGAAAGCATAAACTCTAGAGGTGACTCAGTCAGGACTGACAGTAATGTGATAATTGCCTTCATTTTCAACCCAGGAGTGCCTCTCACAGCTATATGACTACGGATCCATTAGTGAGGAGCGACACACACACCTGTAGGCATCCTGTGCAAACACTTTGTCA
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CTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACGCCATCTCAAAATAAAATAAGAATAATCTGCTTGGCTTGACAGGCATTTTTAATACCTAGTGCAGGCCTTATTTAACCACAACTAATTTTCACTGTATGTAATATAGTGCTATGCCCTCACTGGGAAATAAATATGTGTTGGTGCTGACAAAGTTGAACAGTTTGTTCACAGTTATCTCAAATCACATTTAAGACTCAAGAGTAAGAGGCCGGGCGTGGTGGCTCACTCCTGTAGTCACAGCACCTTGGGAGGCCAAGATGGGCGGATCACCTGAGGTCGGGAATTCGAGACCAACATGGAGAAACCCCGTCTCGACTAAAAAAAAAAAAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTATAATCCCAGCTACTCAGGCTGAGGCAGGAAAATTGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCTGAGATTGTGCCATTATACTCCAGCCTGGGCAACAAGAGTGAAACTCTGGTCCCAAAAAAAAAATAGTTAAGAGTAAACTCTCAAGCCAAGAGATTCTGTTTTAAATGTAGGTGTTTAAAGAAGGTATAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTAGCCAACTTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATTAGCCAGGCGTGGTGGCATGCGCCTGTAGTCCCAGGCTGAGGCACAGGAATCGCTTGAACCCAGGAGGTGGAGATTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGCGACAGAGCGTGACTCTGTCTCAAAAAAAAAAAGAGAAGTATAAAGAGATATAATATTACTTTCCTGTTTTTGATTCTGTTTACAGCAAAGTAATAAAATTATTTTTGGTACACCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAGGCAGAGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAACGGCGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGATCCACTGCCCCGGCTGATACAGCTGATATTGTCAGCATCTTACATTCCCAAGAAAGTCTCATGTTATAAAAGAATGTGGTCTCTATTTTTTTCCTGTTTCCAAGTTCTGCTTTGTTTTCCTATCTTCCAGGAAACAAACGTACTTGGATTTAAAGGTCCTAGGAAAATGTCTGTGATCATTCCTGGAATGACACTGAATCATAAGCAGATCCCCTATCAGCCACAAAACGTGAGTAAGAATGTATTTAAATCAGTGAAAGACTCTAAAAGACAGTAGTACAATACACAGAGATTAATACAAAAAAAAAAAAAAAGATTGAGCTTCCAGAGCCCCACACTGGAGATAGCTCCATACACTTCTTTAGGAAAGCTGCCCCTCCAAAACCTCAGGATAAGAGCAGTTGCAGAGTCATTGCCTTGAAACCATTTTTTCTACAAAGAGAAATGCTGGATGATGTAGAATAATTTTAAAAAAAACCTGTCTTCATTGTTGGCTTTCATTCTTCGCTTCTGGTTTACCCTTTCTGAAATGGAGAAAGTATTCTCCTACTCTACCTTCTACCTCGTAGAGTTGGAGTTCTCAGTACAAAGTAATGATTTTCCCTTTGGACAGAACCATGACAGTTTGCTCTCAAGGTGGCAGAACAGAACTATGGAAAATCTGGTTGAGCTGCACAACAAGGCCCCCGTCTGGAACAGTGACACTCAGTCCTATGTCCTCAACTTCCGTGGCTGGGTCACTCAGGCGTCTGTGAAGAACTTCCAGATAGTCCACAAAAATGACCGTAAGCCTCCAGGAGGGGTTGGGTGGGAAGAGGAGGACAGATGCTCTTACAGGATGGGAATGCACATTCCCTGTACATGATAGGAAGTGACAGTCAGCAGATAATCATGGAGGAGAGACAGGATTTCTTTGGAAAGATGAAACTACAGTTTTAGAGAAAACTTGTAAATCACTGTGTTGAGGAGGGGAGAGGAGTGTGAGAGAGATGCTATAGCAAATCAGAGAAGTTGGCTGGGCACCATGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTGAGACCAGCCTGGGCAACATGGTGTGAAACCCCATCTCTACAAAAAATAGAAAAATTAGCTGGGCGTGGTGGCAGGCACTTGTAGTCCCAGCTACCCGGGAGGCTGAGGTGGGAGCATCACTTGAGCCAGGAGGTCGAGGCTGCAGTGAGCTGAGATTGCATCACTGCTCTCCAGCCTGGGTGACAGCAAGAACCTGTCTCAGAAAAAAATAAAAAATCAGAGAAGTCATAGAGTAGGTTGTTTGGGAAACAAAGGCAAATGACCCCAATAAAGGTTCCTGGCAGCTCTAGCCTGCGGAGTTTATGACATTCCCAGCAAGCTGCTCTCTATTCTACAGAAACCTGGTGATTAACTGGCCTATTTGGAGGATTCTTTCTGTATCATAAATAGGATCCCAGCACTTTGGGAGGCCGAGGCAGGAGAATCACTTGAGCCTAGGTGTTTGAGACCAGCTTGAGCAACATAGTGAGACCCTATCTTCACAAAAAGTAAAATATTAGCCAGGCGTGGTGGCGCTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGACGGGAGGTCAAGGCTGCAGTGAGCTGTGGTCATTCCACTAGGCTCCAGCCAGGGCGACAGAGCAAAACCCCATCTAAGAAAAGGAAGAAAAAGAAAAAGATTTCCCTGAGTGCAACCACATTATATTCTAACATGTTGATTTCTTTCTGTTTCTAGCTGATTATATAGTCATGCAGTTTGGACGTGTGGCAGATGACGTGTTCACACTGGATTACAACTACCCACTTTGTGCAGTACAGGCCTTTGGCATCGGTCTTTCTAGCTTTGACAGTAAGCTGGCGTGTGAATGAGAGAACAGTCAGGCAGGGAGCCCTTCTCCCCACAGAGCTTTCAGGAGCAGACAGTGGCCTCCCCTTCCCCTCCCTGCCCCAGGACTTAAAGAGCAATAGTTTGCCCCTTTTGGAATGATCTCTGAATATATAAAACACACACACAAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACACCCCGCGCACTCTCACTCCTTTTCCAGGTTTCATAGACTTGGTGAGGGATCACAGCTTAGCATGGGTGAGAGATGATTTAAAGCACAGGGAGATTCTTGTCACATTGGGGTCTCCAAAGCTAGAATGGGATTTCATGTGCTTGGAAACTTGCAGTAGAATCAGGGACTGACATCGCAGTTCCTCTCCTCTCTTCATTCCCTCACAGCAGATTGGCCGGCACCAATCTTAGTCAAGAGTGGCTGTGATCACATTTGTGATCAATTATGTGAGAATTTTATATAATTGTCTTCATTTCAATTAAGGCTGAAAGCATAAACTCTAGAGGTGACTCAGTCAGGACTGACAGTAATGTGATAATTGCCTTCATTTTCAACCCAGGAGTGCCTCTCACAGCTATATGACTACGGATCCATTAGTGAGGAGCGACACACACACCTGTAGGCATCCTGTGCAAACACTTTGTCA
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Task1_train_16940
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Here is a genetic alteration in TULP3 (TUB like protein 3) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Hepatorenocardiac degenerative fibrosis
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CACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGATCCACTGCCCCGGCTGATACAGCTGATATTGTCAGCATCTTACATTCCCAAGAAAGTCTCATGTTATAAAAGAATGTGGTCTCTATTTTTTTCCTGTTTCCAAGTTCTGCTTTGTTTTCCTATCTTCCAGGAAACAAACGTACTTGGATTTAAAGGTCCTAGGAAAATGTCTGTGATCATTCCTGGAATGACACTGAATCATAAGCAGATCCCCTATCAGCCACAAAACGTGAGTAAGAATGTATTTAAATCAGTGAAAGACTCTAAAAGACAGTAGTACAATACACAGAGATTAATACAAAAAAAAAAAAAAAGATTGAGCTTCCAGAGCCCCACACTGGAGATAGCTCCATACACTTCTTTAGGAAAGCTGCCCCTCCAAAACCTCAGGATAAGAGCAGTTGCAGAGTCATTGCCTTGAAACCATTTTTTCTACAAAGAGAAATGCTGGATGATGTAGAATAATTTTAAAAAAAACCTGTCTTCATTGTTGGCTTTCATTCTTCGCTTCTGGTTTACCCTTTCTGAAATGGAGAAAGTATTCTCCTACTCTACCTTCTACCTCGTAGAGTTGGAGTTCTCAGTACAAAGTAATGATTTTCCCTTTGGACAGAACCATGACAGTTTGCTCTCAAGGTGGCAGAACAGAACTATGGAAAATCTGGTTGAGCTGCACAACAAGGCCCCCGTCTGGAACAGTGACACTCAGTCCTATGTCCTCAACTTCCGTGGCCGGGTCACTCAGGCGTCTGTGAAGAACTTCCAGATAGTCCACAAAAATGACCGTAAGCCTCCAGGAGGGGTTGGGTGGGAAGAGGAGGACAGATGCTCTTACAGGATGGGAATGCACATTCCCTGTACATGATAGGAAGTGACAGTCAGCAGATAATCATGGAGGAGAGACAGGATTTCTTTGGAAAGATGAAACTACAGTTTTAGAGAAAACTTGTAAATCACTGTGTTGAGGAGGGGAGAGGAGTGTGAGAGAGATGCTATAGCAAATCAGAGAAGTTGGCTGGGCACCATGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTGAGACCAGCCTGGGCAACATGGTGTGAAACCCCATCTCTACAAAAAATAGAAAAATTAGCTGGGCGTGGTGGCAGGCACTTGTAGTCCCAGCTACCCGGGAGGCTGAGGTGGGAGCATCACTTGAGCCAGGAGGTCGAGGCTGCAGTGAGCTGAGATTGCATCACTGCTCTCCAGCCTGGGTGACAGCAAGAACCTGTCTCAGAAAAAAATAAAAAATCAGAGAAGTCATAGAGTAGGTTGTTTGGGAAACAAAGGCAAATGACCCCAATAAAGGTTCCTGGCAGCTCTAGCCTGCGGAGTTTATGACATTCCCAGCAAGCTGCTCTCTATTCTACAGAAACCTGGTGATTAACTGGCCTATTTGGAGGATTCTTTCTGTATCATAAATAGGATCCCAGCACTTTGGGAGGCCGAGGCAGGAGAATCACTTGAGCCTAGGTGTTTGAGACCAGCTTGAGCAACATAGTGAGACCCTATCTTCACAAAAAGTAAAATATTAGCCAGGCGTGGTGGCGCTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGACGGGAGGTCAAGGCTGCAGTGAGCTGTGGTCATTCCACTAGGCTCCAGCCAGGGCGACAGAGCAAAACCCCATCTAAGAAAAGGAAGAAAAAGAAAAAGATTTCCCTGAGTGCAACCACATTATATTCTAACATGTTGATTTCTTTCTGTTTCTAGCTGATTATATAGTCATGCAGTTTGGACGTGTGGCAGATGACGTGTTCACACTGGATTACAACTACCCACTTTGTGCAGTACAGGCCTTTGGCATCGGTCTTTCTAGCTTTGACAGTAAGCTGGCGTGTGAATGAGAGAACAGTCAGGCAGGGAGCCCTTCTCCCCACAGAGCTTTCAGGAGCAGACAGTGGCCTCCCCTTCCCCTCCCTGCCCCAGGACTTAAAGAGCAATAGTTTGCCCCTTTTGGAATGATCTCTGAATATATAAAACACACACACAAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACACCCCGCGCACTCTCACTCCTTTTCCAGGTTTCATAGACTTGGTGAGGGATCACAGCTTAGCATGGGTGAGAGATGATTTAAAGCACAGGGAGATTCTTGTCACATTGGGGTCTCCAAAGCTAGAATGGGATTTCATGTGCTTGGAAACTTGCAGTAGAATCAGGGACTGACATCGCAGTTCCTCTCCTCTCTTCATTCCCTCACAGCAGATTGGCCGGCACCAATCTTAGTCAAGAGTGGCTGTGATCACATTTGTGATCAATTATGTGAGAATTTTATATAATTGTCTTCATTTCAATTAAGGCTGAAAGCATAAACTCTAGAGGTGACTCAGTCAGGACTGACAGTAATGTGATAATTGCCTTCATTTTCAACCCAGGAGTGCCTCTCACAGCTATATGACTACGGATCCATTAGTGAGGAGCGACACACACACCTGTAGGCATCCTGTGCAAACACTTTGTCATTATCAAGAGAGATGGCAGTATTGACCATTTAGTTTAGTTAAAAAAAAAAAAAAAAAGGTGGCAGGAGAGGCTTTGGGGAGGATCAGCCAGCAGACATGAGCACTGCTGGCCCGTGTGGCAGAGCTGTGGACTTTCTTCTCGGCTCCCTCAACCCTGGCTCAGGCACAGAAGGTGTTTTGCTACGTTTTTTTGATTATTACACCCCTCCACGTATTATGTGACTCTTACACCAGTTCACCCTTCCCAGAATGTATCCAAACCTTGAGAATGCAGGAGCTCTGTGAGCTCCACCGTCAGCACCATTCAGCTGCATCCCTTGTGCACAGAACTGTTTGCCAGCGTTGGGTGGGACACCCGTGGCGGCTGCTCCCTCAGACCTCCCTTCTGTGGACTGACCTCTCACCTCCGCCTGTTGTTCCTGCACCACATCAGATAAGCATGTGAAGGAGGGCCAACTGGCAGCTGCGGGACCCTTGGCTTGTCCCCCACCGACAAGTCCCACCTGCTGGGTGAGGACGAGACTGTTTCCATCTCAGGCATGTATCCCACCAAGTGCCTCCCTCACAGCCATGCCCAGAAGCCTCACACCTCGTCACCACCACCACCCCCCACCCCATCCTGAGGCACTGCCTGGCAGATAACCCTGGTTGGCCACAGAAGCTATTAATACACGACAGCATGTGGGGAAGGACTTATGGTGGGCCAGGTGGACCTCATCCTGCTTCTTCCTCCCTCTGGTTTAAAGAGATATATAAACTAATTTCACATAATTTGTGTGTGCAGGTGATTGGTTTTTACATAAGTCCTATTTATACCTTTTATATGTTACAGAAATAAAAGTTAATTTATATAAAAATGTGTCACTGCCTTTGCAAGTCCTATGCCTCAGGAAGTTCCTACTGTCATGTTATATAATCATAATTGTCATCTTGGGCCACGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGTGGCAGGCGGATCACCTGAGGCCAGGAGTTGGAGACCAGCCTGGCCAACACGGCAAAACCCTATCTCTACTAAAAATACCAAAATTAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCT
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CACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGATCCACTGCCCCGGCTGATACAGCTGATATTGTCAGCATCTTACATTCCCAAGAAAGTCTCATGTTATAAAAGAATGTGGTCTCTATTTTTTTCCTGTTTCCAAGTTCTGCTTTGTTTTCCTATCTTCCAGGAAACAAACGTACTTGGATTTAAAGGTCCTAGGAAAATGTCTGTGATCATTCCTGGAATGACACTGAATCATAAGCAGATCCCCTATCAGCCACAAAACGTGAGTAAGAATGTATTTAAATCAGTGAAAGACTCTAAAAGACAGTAGTACAATACACAGAGATTAATACAAAAAAAAAAAAAAAGATTGAGCTTCCAGAGCCCCACACTGGAGATAGCTCCATACACTTCTTTAGGAAAGCTGCCCCTCCAAAACCTCAGGATAAGAGCAGTTGCAGAGTCATTGCCTTGAAACCATTTTTTCTACAAAGAGAAATGCTGGATGATGTAGAATAATTTTAAAAAAAACCTGTCTTCATTGTTGGCTTTCATTCTTCGCTTCTGGTTTACCCTTTCTGAAATGGAGAAAGTATTCTCCTACTCTACCTTCTACCTCGTAGAGTTGGAGTTCTCAGTACAAAGTAATGATTTTCCCTTTGGACAGAACCATGACAGTTTGCTCTCAAGGTGGCAGAACAGAACTATGGAAAATCTGGTTGAGCTGCACAACAAGGCCCCCGTCTGGAACAGTGACACTCAGTCCTATGTCCTCAACTTCCGTGGCCGGGTCACTCAGGCGTCTGTGAAGAACTTCCAGATAGTCCACAAAAATGACCGTAAGCCTCCAGGAGGGGTTGGGTGGGAAGAGGAGGACAGATGCTCTTACAGGATGGGAATGCACATTCCCTGTACATGATAGGAAGTGACAGTCAGCAGATAATCATGGAGGAGAGACAGGATTTCTTTGGAAAGATGAAACTACAGTTTTAGAGAAAACTTGTAAATCACTGTGTTGAGGAGGGGAGAGGAGTGTGAGAGAGATGCTATAGCAAATCAGAGAAGTTGGCTGGGCACCATGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTGAGACCAGCCTGGGCAACATGGTGTGAAACCCCATCTCTACAAAAAATAGAAAAATTAGCTGGGCGTGGTGGCAGGCACTTGTAGTCCCAGCTACCCGGGAGGCTGAGGTGGGAGCATCACTTGAGCCAGGAGGTCGAGGCTGCAGTGAGCTGAGATTGCATCACTGCTCTCCAGCCTGGGTGACAGCAAGAACCTGTCTCAGAAAAAAATAAAAAATCAGAGAAGTCATAGAGTAGGTTGTTTGGGAAACAAAGGCAAATGACCCCAATAAAGGTTCCTGGCAGCTCTAGCCTGCGGAGTTTATGACATTCCCAGCAAGCTGCTCTCTATTCTACAGAAACCTGGTGATTAACTGGCCTATTTGGAGGATTCTTTCTGTATCATAAATAGGATCCCAGCACTTTGGGAGGCCGAGGCAGGAGAATCACTTGAGCCTAGGTGTTTGAGACCAGCTTGAGCAACATAGTGAGACCCTATCTTCACAAAAAGTAAAATATTAGCCAGGCGTGGTGGCGCTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGACGGGAGGTCAAGGCTGCAGTGAGCTGTGGTCATTCCACTAGGCTCCAGCCAGGGCGACAGAGCAAAACCCCATCTAAGAAAAGGAAGAAAAAGAAAAAGATTTCCCTGAGTGCAACCACATTATATTCTAACATGTTGATTTCTTTCTGTTTCTAGCTGATTATATAGTCATGCAGTTTGGACATGTGGCAGATGACGTGTTCACACTGGATTACAACTACCCACTTTGTGCAGTACAGGCCTTTGGCATCGGTCTTTCTAGCTTTGACAGTAAGCTGGCGTGTGAATGAGAGAACAGTCAGGCAGGGAGCCCTTCTCCCCACAGAGCTTTCAGGAGCAGACAGTGGCCTCCCCTTCCCCTCCCTGCCCCAGGACTTAAAGAGCAATAGTTTGCCCCTTTTGGAATGATCTCTGAATATATAAAACACACACACAAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACGAAGAGCAATAGTTTGCCCCTTTTGGAACGACCCCTGAATATATAAAACACACACACACCCCGCGCACTCTCACTCCTTTTCCAGGTTTCATAGACTTGGTGAGGGATCACAGCTTAGCATGGGTGAGAGATGATTTAAAGCACAGGGAGATTCTTGTCACATTGGGGTCTCCAAAGCTAGAATGGGATTTCATGTGCTTGGAAACTTGCAGTAGAATCAGGGACTGACATCGCAGTTCCTCTCCTCTCTTCATTCCCTCACAGCAGATTGGCCGGCACCAATCTTAGTCAAGAGTGGCTGTGATCACATTTGTGATCAATTATGTGAGAATTTTATATAATTGTCTTCATTTCAATTAAGGCTGAAAGCATAAACTCTAGAGGTGACTCAGTCAGGACTGACAGTAATGTGATAATTGCCTTCATTTTCAACCCAGGAGTGCCTCTCACAGCTATATGACTACGGATCCATTAGTGAGGAGCGACACACACACCTGTAGGCATCCTGTGCAAACACTTTGTCATTATCAAGAGAGATGGCAGTATTGACCATTTAGTTTAGTTAAAAAAAAAAAAAAAAAGGTGGCAGGAGAGGCTTTGGGGAGGATCAGCCAGCAGACATGAGCACTGCTGGCCCGTGTGGCAGAGCTGTGGACTTTCTTCTCGGCTCCCTCAACCCTGGCTCAGGCACAGAAGGTGTTTTGCTACGTTTTTTTGATTATTACACCCCTCCACGTATTATGTGACTCTTACACCAGTTCACCCTTCCCAGAATGTATCCAAACCTTGAGAATGCAGGAGCTCTGTGAGCTCCACCGTCAGCACCATTCAGCTGCATCCCTTGTGCACAGAACTGTTTGCCAGCGTTGGGTGGGACACCCGTGGCGGCTGCTCCCTCAGACCTCCCTTCTGTGGACTGACCTCTCACCTCCGCCTGTTGTTCCTGCACCACATCAGATAAGCATGTGAAGGAGGGCCAACTGGCAGCTGCGGGACCCTTGGCTTGTCCCCCACCGACAAGTCCCACCTGCTGGGTGAGGACGAGACTGTTTCCATCTCAGGCATGTATCCCACCAAGTGCCTCCCTCACAGCCATGCCCAGAAGCCTCACACCTCGTCACCACCACCACCCCCCACCCCATCCTGAGGCACTGCCTGGCAGATAACCCTGGTTGGCCACAGAAGCTATTAATACACGACAGCATGTGGGGAAGGACTTATGGTGGGCCAGGTGGACCTCATCCTGCTTCTTCCTCCCTCTGGTTTAAAGAGATATATAAACTAATTTCACATAATTTGTGTGTGCAGGTGATTGGTTTTTACATAAGTCCTATTTATACCTTTTATATGTTACAGAAATAAAAGTTAATTTATATAAAAATGTGTCACTGCCTTTGCAAGTCCTATGCCTCAGGAAGTTCCTACTGTCATGTTATATAATCATAATTGTCATCTTGGGCCACGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGTGGCAGGCGGATCACCTGAGGCCAGGAGTTGGAGACCAGCCTGGCCAACACGGCAAAACCCTATCTCTACTAAAAATACCAAAATTAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCT
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Task1_train_16941
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The gene CCND2 (cyclin D2), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
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CCAGACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTA
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CCAGACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCGCCCCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTA
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Task1_train_16942
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A change on Chromosome 12 affects gene CCND2 (cyclin D2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Inborn genetic diseases
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CCAGACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTA
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CCAGACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCGCCCCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTA
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Task1_train_16943
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A mutation in CCND2 (cyclin D2), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Inborn genetic diseases
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GACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTACAA
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GACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCGCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTACAA
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Task1_train_16944
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A mutation found in CCND2 (cyclin D2) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
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GACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTACAA
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GACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCTCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTACAA
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Task1_train_16945
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This sequence change occurs on Chromosome 12, altering CCND2 (cyclin D2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; CCND2-related disorder
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ACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTACAAA
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ACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCCGTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTACAAA
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Task1_train_16946
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A genetic alteration is present in CCND2 (cyclin D2) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
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ACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTACAAA
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ACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATATTTCGTCTCTGCCTTTGGCCTTTAGTCTGTGGTTGTTCCTAATCTTAGTTTTCATTGAAAGCTGTAGTTTGAAATGTGGGATAGATGAGAGATAGGAAAGGAAAATTTAGGGGTATGGAAATTTTGTTCCTTAGTGGTTAGTTCCAGCTTTATTTTGTTTATTTATATGTTTGTTTTTAAAGATCGGGAGCTTGCTGTGTTGTCCAGGCTGGTATCGAACTCCTGGTTTCAGCTTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCAATATGCCTGGCCAGCTGTGTTTTAGATCTTTGGGAAATAAAGAGAATGCTTTTGGGCTTGGCAAAATAGAAACCTCTGGGTGGGGAGAATTGCACAGTAAAAGAAACAAAAGGGAAGTTTATATTAAACTATGAAAAGACACAGGGAGGTTCAATTTAACATATTTGCCTTATGTATGTGCTTCTTAAGAGAGTGCACAAAGGCACCTTTGCAGAGGAGAGAGGCTAGAAAATGCCCGTTAGAAGCAAGTCTACGGTTTGCACCCTCTTACTAGCACCAGCAACGGTCCCTGTCTAGTGATACCCATGACTTGTCATTGCATTGCATGTCATCTGCCTAAGAGAAGCTCCTGCCTGGGGCAGACACACTGTCAATTACCCCTACAATATAGACTGATACTAAAGCAAGGCTGCATATTCTTGCTTATTCCCAAATTGGATGGCTCAAGGTTCCAGAATGTTGTAGACATTCTGCATTATATCTTTATGAGAGTTAAGGAAATGGTAAAGAAGCAGAAAAAGTTGGGGATTTTTTTTTTTAAGTATTTACAGTGAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACAAGGTCAGGAGTTCGAGGCCAGCCTGGCCAATATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCAGTGCACTCCAGCCTGGGGGACAGAGTGAGAAAAAGTATTTACAGTTTATGTGAGGGTCAGTACGTTGGTTCATTGGCTTCCTTCTTATCTAGTTCTCGGGCTGAGTTTGCTAATGTCATAGCACTTCTAGTAGCCTTCCCCTTTTCTCTGCCACTTCCCAGCTTCCCCAGGCAGAAAGCATCTGGTCGGCCCCTTGATTACCAGGCATCCATAAGTGACCATCATTTAGGCCAGTGCTTCTCAGAATGCCAATCACCTGGGCTCCACTAAAAGGCAGGTTCTGAATAGCTCGGCCTGGGTTGACTGAGATTCTGCGGTTCCAACAAGCTCGCAGGTGATGCTGATGCTGCCAGCCCATGGACCCCACCTGGAGTAGTGAGGTTCCTTGGCACTTTAAGAACATCCCTCCTTTACTTCACATTTATTTCTACTGGAAACTAGCACAGACTTATGCAAGCTAAATTACGCATGTTTTCTCCGTAGGATGCTCTATGTCCTGTTCCTCTTACTAACAACTCTGGTCTGGACCATTGTTCTAGGATTGTCTCAAAGCTTGCCAGGAGCAGATTGAGGCGGTGCTCCTCAATAGCCTGCAGCAGTACCGTCAGGACCAACGTGACGGATCCAAGTCGGAGGATGAACTGGACCAAGCCAGCACCCTTACAGACGTGCGGGATATCGACCTGTGAGGATGCCAGTTGGGCCGAAAGAGAGAGACGCGTCCATAATCTGGTCTCTTCTTCTTTCTGGTTGTTTTTGTTCTTTGTGTTTTAGGGTGAAACTTAAAAAAAAAATTCTGCCCCCACCTAGATCATATTTAAAGATCTTTTAGAAGTGAGAGAAAAAGGTCCTACGAAAACGGAATAATAAAAAGCATTTGGTGCCTATTTGAAGTACAGCATAAGGGAATCCCTTGTATATGCGAACAGTTATTGTTTGATTATGTAAAAGTAATAGTAAAATGCTTACAGGAAAACCTGCAGAGTAGTTAGAGAATATGTATGCCTGCAATATGGGAACAAATTAGAGGAGACTTTTTTTTTTCATGTTATGAGCTAGCACATACACCCCCTTGTAGTATAATTTCAAGGAACTGTGTACGCCATTTATGGCATGATTAGATTGCAAAGCAATGAACTCAAGAAGGAATTGAAATAAGGAGGGACATGATGGGGAAGGAGTACAAAACAATCTCTCAACATGATTGAACCATTTGGGATGGAGAAGCACCTTTGCTCTCAGCCACCTGTTACTAAGTCAGGAGTGTAGTTGGATCTCTACATTAATGTCCTCTTGCTGTCTACAGTAGCTGCTACCTAAAAAAAGATGTTTTATTTTGCCAGTTGGACACAGGTGATTGGCTCCTGGGTTTCATGTTCTGTGACATCCTGCTTCTTCTTCCAAATGCAGTTCATTGCAGACACCACCATATTGCTATCTAATGGGGAAATGTAGCTATGGGCCATAACCAAAACTCACATGAAACGGAGGCAGATGGAGACCAAGGGTGGGATCCAGAATGGAGTCTTTTCTGTTATTGTATTTAAAAGGGTAATGTGGCCTTGGCATTTCTTCTTAGAAAAAAACTAATTTTTGGTGCTGATTGGCATGTCTGGTTCACAGTTTAGCATTGTTATAAACCATTCCATTCGAAAAGCACTTTGAAAAATTGTTCCCGAGCGATAGATGGGATGGTTTATGCAAGTCATGCTGAATACTCCTCCCCTCTTCTCTTTTGCCCCCTCCCTTCCTGCCCCCAGTCTGGGTTACTCTTCGCTTCTGGTATCTGGCGTTCTTTGGTACACAGTTCTGGTGTTCCTACCAGGACTCAAGAGACACCCCTTCCTGCTGACATTCCCATCACAACATTCCTCAGACAAGCCTGTAAACTAAAATCTGTTACCATTCTGATGGCACAGAAGGATCTTAATTCCCATCTCTATACTTCTCCTTTGGACATGGAAAGAAAAGTTATTGCTGGTGCAAAGATAGATGGCTGAACATCAGGGTGTGGCATTTTGTTCCCTTTTCCGTTTTTTTTTTTTTATTGTTGTTGTTAATTTTATTGCAAAGTTGTATTCAGCGTACTTGAATTTTTCTTCCTCTCCACTTCTTAGAGGCATTCAGTTAGCAAAGAGGTTGGAGCAACAACTTTTTTTTTTTTTTTTGCACAATTGTAATTGACAGGTAATGAAGCTATTTGTTAAAATATTTGCCTTTTTAAGTAAAAAAGAAAAATCAGAACAGGGCTATTTGAAGAATTATTTTATACACAGATTCTGCCTTGTTTCATAGTATGAGGGTTGAAGACGGAAAACAATCTAAGGGTCTCTCATTTTTTTAATTTTGTTTTGTTCAGTTTGGTTTTTTTTTTTTTTTGCGCTGCTAAGAAGCTAAAGTCATCCATCCTTATTCACGTTGACAGTACCTAGCTGTAATGTTTCACAGAGTGTGCTGCTATTTTATAAACATTTTTATAATATATTATTTTACTGCTTAAATTCCAAGTCCTGAAGTAGATGGTTGAGATATGAGTTCTTCGTACTGGAAAAGCCCTTCCGTAGTTTGTTTTCTTCTGGTAGCATATTCATGGTTGTTTTTTTTTTTCTTTTTTGGTTTTTTGGTTTTTTTTTTTTCCTCTGATCACATTCTTCAAAGACGGAGTATTCTTTACCTCAGGTTTACTGGACAAAATCAATAACTACAAA
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Task1_train_16947
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This sequence variant lies in FGF23 (fibroblast growth factor 23) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Hypophosphatemic rickets
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCTGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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Task1_train_16948
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A variant was discovered in gene FGF23 (fibroblast growth factor 23), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal dominant hypophosphatemic rickets
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCTGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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Task1_train_16949
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Here is a genetic alteration in FGF23 (fibroblast growth factor 23) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Short stature
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCTGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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Task1_train_16950
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A change on Chromosome 12 affects gene FGF23 (fibroblast growth factor 23). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal dominant hypophosphatemic rickets
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCTGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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Task1_train_16951
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This mutation is located in gene FGF23 (fibroblast growth factor 23) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 2
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCTGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGC
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Task1_train_16952
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A mutation on Chromosome 12 affecting FGF23 (fibroblast growth factor 23) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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TAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAAT
|
TAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCTGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAAT
|
Task1_train_16953
|
A sequence alteration has been identified in FGF23 (fibroblast growth factor 23) on Chromosome 12. Is it disease-inducing or harmless?
|
Pathogenic; not provided
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AAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAATC
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AAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCACCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAATC
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Task1_train_16954
|
Gene FGF23 (fibroblast growth factor 23) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 2
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CTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAATCCATGCAGAGGTATCTTCTGCTCATCACACCTGTAATCACCACAAAGCCAGCATCCTCTGATCTGATCATCAGGGCACCTATGGAGAAAAACAGGCAGGGCAAAGACTCATTGCCATCCAATTCCCACCTTCAAGCACCTC
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CTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAAAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAATCCATGCAGAGGTATCTTCTGCTCATCACACCTGTAATCACCACAAAGCCAGCATCCTCTGATCTGATCATCAGGGCACCTATGGAGAAAAACAGGCAGGGCAAAGACTCATTGCCATCCAATTCCCACCTTCAAGCACCTC
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Task1_train_16955
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Here is a mutation in FGF23 (fibroblast growth factor 23) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 1
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CTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAATCCATGCAGAGGTATCTTCTGCTCATCACACCTGTAATCACCACAAAGCCAGCATCCTCTGATCTGATCATCAGGGCACCTATGGAGAAAAACAGGCAGGGCAAAGACTCATTGCCATCCAATTCCCACCTTCAAGCACCTCCTGAAAACCTACCTTCATG
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CTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCTTTAGGTGGTCATTTAAAGAGAGGGAGGAAAATGGAGCCCCCTTACAGGAAGAACCGCAGTAATGGGGTAAGGCTTCATTTAATGCACCAAGAATTTCCAAGGGGATTGAGACCCAGATGTGTCAGCCTAGGAGAGTTTTAACTAATCGAAGAGCCACTGCTGCTGCAGAGCCCTAGAGACCACAGACAAGAGCCTGACCATGTGGTTGTCTTTTCATAACTTCTATAACATGTCCCCTGATTTCTTTCCCCCTGAGTCCTTGATGCCACTTCATTTAGAGAAAAGGACACGATTTTTCAGTCCACAGAAAACCTAACCCAGAGCAGTCCCAGTCTCTCAAAGCCCCCTTCCCAGTCACATTTTTGTAGTTTGTTCAGAATGGATTCCTACTCAACCTGGAAGTAGAGCCTTAATTAAATGCCTCTTAGGAGAGTTGGAATTTATTTCCATTTTGAAAAGCAAATTCTAGCAGGGCAGATTTTCGTGAGCCAGTGTAAAAGCTATTTATTCCTTAGACCAAATTTTCAAAAACCAGAGATGGGGCCAAAAGGTGAGGCTGTATCATGAACTGCTTGGGAACAGAGTGGGGCCATTCTGGGCCCTCTGGCTGTGGCTGCACAGAGGGAGACAGCGAGACAGAAGGTGCTCACCCTGTAGGGAGGCTGAGTTTTCTATTATGATTCCTGCCTCATTTCAGCAAGCATCAAGTCTAGCTGTCAAGTTTTCACCAGCCTACCACCAGTCTTTTGACAGCTCTTCCCCAGAGATGCTCAAGGAAGAACGAAGGCTTGAAAGTAGTGTTTTCATCAACTTGCCCCATTCAGCTGTTAATGTCAAGGTTTGCACACTCAAATGCCAGTGGGATCGGGGCATCTAACATAAATGCATAGGGCAGTGGAGAAGCTTCTGGGATCTCCGATTTCCTCTTCCCTACACCTTCAAAGTCTTGAGCTCAGGAACCCACTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGCTTAAAAGTGATAAAGAGGAGAGGCACAAGGAAGAGAAATATGTTGGGAGAGACCCCTTCTCTCTACCTTCATGAAGGGGAAATTTCTAGTTTACCTGTTGGGGTTTCCTATTGGGAAAGGTGTTCTATATGGAGTGAGGAAGGCGGTGAAACCCCATGACTTGGGCCTCAAAGGTTGGTTCTCACAGGACCTCCTGTGGAAGGGACCCCAGAGAAGCAGCAAATTCCATACATGCCCCTGTCACCTTTCCCATCCTCGGAACGTCAAGGGACCTGGTCCTTGGGAAGAGCTGCGTTTGCTGAGGGATGGGTTAAAGAGGGTGCCCTTCCAGCGACCCTAGATGAACTTGGCGAAGGGGCGGCAGCCTTCCGGGCCCGTTCCCCCAGCGTGCGTGTTCACTCGACCGCCCCTGACCACCCCTAATGGGTCACTGGCCATCGGGCTGTTGTCCTCGGCGCTCGGGAGCTCCTGTGAACAGGAGGCCGGGGCCGGGGTCATCCGGGCCCGGGGCTTCAGCACGTTCAGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCAGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAATCCATGCAGAGGTATCTTCTGCTCATCACACCTGTAATCACCACAAAGCCAGCATCCTCTGATCTGATCATCAGGGCACCTATGGAGAAAAACAGGCAGGGCAAAGACTCATTGCCATCCAATTCCCACCTTCAAGCACCTCCTGAAAACCTACCTTCATG
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Task1_train_16956
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A change on Chromosome 12 affects gene FGF23 (fibroblast growth factor 23). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 2
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CCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAATCCATGCAGAGGTATCTTCTGCTCATCACACCTGTAATCACCACAAAGCCAGCATCCTCTGATCTGATCATCAGGGCACCTATGGAGAAAAACAGGCAGGGCAAAGACTCATTGCCATCCAATTCCCACCTTCAAGCACCTCCTGAAAACCTACCTTCATGAAACCTCCCTGGATTGATTTTAAGGGTGGTGATAACTTCAGCACTCTTAAATTCAGCCTCATTTCTGCATATTCAGCGTTTCTTCTGACATCCTCTCTTGCCCCCAACACACATACAGTCATTCACCTCCTGCTTCATCTTGTTGCCTGTATGGGGCACTCTGAGCTCCTGGAATTCTTCTACCTGTGCTGAACACATGTTTCTCTCTCTCTACCTGGACCGTCTTTATTTTCCCTTTTGCCTTACTAATACCTTTGAATGTTTGTGGTGATAGTCACATTCTTCCATGCCTTCTACTTTGTGATTTTTAAATCTATGCTGAGATGTCTTTCAAGGATCCAGCTTGCCATAGAGTCTGATTCTCCTCCTGGATGTCTGTGTAATTGTCTAATACATCAGTCAACACCCAGTATGTGTACAGAATGGTAGTAGAGTTGATCTCCCTCTTCCTTCTCTACTTATTGAAGTCACTCACTCTTCAAGACCAGGCTCAGGCGTCACCATCTCTATGAAGACTTTCCTCATCTTTCCATTCAAAATCAGTTGTTCTTCCTTCTCAGCTCCTCAGGACAATGCCTTCACCTCTATTACAGCATGTATTCCATTTAACTTGCTTTAGCTGAGTTTACCTATCCAGTGCGTTCCTTAGAGTGAGCTGCTTAGGAGCAGAGGGTATAACTGTTTATGTTGAATCAATATAAGTGACGGATGGAATTTTCTTCTTGGCTCTTCTTGGGTTGGTTCTTTGTCATTTTCTCACTTGGTGGTGACCTCTCCAGGTGCAGCCCCTCATGGACTTTCAGTGTCCCCTCTCAAAAACTAGTCTCCGACAAGGGCCTGAAACCCATTCACACGACCTACCTCTTAAGTAATTGATAATGGCTTTAAATTACTGTTTTGTGGCAAAGGCACAATTAGATCATATACTGGTGTAACATGCGTGATAATTCAGCGAGATTTCTTCCCCACATGTTATTTAATTACCTGACATTTTCTGTTAAAAATCATTACTTTAGGTCTTTGGGGCTACTTCCAGTTGCCTATCACAGAATTTCTAGGTGCATCTCATCTGACCTCATAGCCTCCAGGGAGGCAGCTAGAATCCCATGCAGGGATTCTAATTCCTCTTCTGCAACTGTAGCTTGGAGAGGTTGTAAATGCCCAATGTTTGTGCCTAGCAAGTGATGGAGCCTTGTGGGGGTGATTTAAAGGCCAAAGCTCTTCTCCTATCCCATGCAGGCTCAATACAAGGACCTTTGAGGAAAATAAGCAGCAATAATTAGGTACTAGCTGAGTAGAAATCATGATAGGGACTGAAATTGGACTGACGCGGAACAGAGGGAATGAGGGTGGAGACAAGCCCCAGAAAGGTGAGAAAGGAAGAGGGCCAAAGAGAGAAGTTAATTTGTTTCAAAGTTTGGCTGAGGGGAACCTTGAGGAAAGCTTCCCAGAAAGTGGACTGGGGTATGACAGGCGCAAAGGATGCTTAAATTCCTCCACAGTGGTGTCTGCCTATGTGTCTCAAATGTATGGCTAGTTTTGTGGTAAACCTTTGGAGAAATATAAGGAACGTGTAAGAAATGGTTTCGACTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCTCTTCTCTACTAAAATACAAAAAAAATTAGCCAGGTGTGTTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTAGCAGTAAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAT
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CCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTTCTTAGGGCGTTGAGCCTTCACCCCTTTGTTCCCTGCTGGGGTAGAGTGGTTTTGATTAATGCTCAAGCCCTGACTATATAGTTCGCCCTTTCAGAGACTACGACTACTGGGGCCTCCGCTTACTGCCTGGAGGCCCGGGCTGGCCTGGCCTGTGGTTTTCCTGGAGTAGGCACCACCTTGTCCTTCCTGCCCTCTATCTTTTCCAAGCCTCTGCTGGCTGAAAATTGGCTTGGGTTTGTCTCTTTACTGGAGAAAGGAGAGGGGATGGAGTTTATAGGGTCAAACATGAATGAGAGCACTGACGGGATTGGAGACATGAACTTTGCTGACAGATGAGCTGGGTTTGAATCCTCTACCACTAGTACTGGGTTTTACTGAGTGCCCCACGAAGGCCTTTGCCTGTTATTTCTTTTAATCCTCAAGCTCCACAAAGTAAGCAGTTTACAGATCAGGACTATCTACATGCCTAGAGGGGTTAACGGATGTTTAGTTAGTTATCTATATTTCAATAGTGGTTCAACAGATTTTTTGTTTGTTTGTTTACCTACTCTAGCCAGACACTATTGTAGGGGCTGGGATGCAGCAGAAAGCAAAACAGAAAGTCTCTGTTCTTGTGGAGTTTCTAGTGGGCATGTGTGGTGGTCAGAGACTCCTGAGATAAGCAGTCCTACTATTTTACTATCTCAAAATCCTCCAAAAGAGGCCAGCAGCCTTTAGTTTGGGAAATCCTTTGCTTACCAATCCGAATGAATAGCTATCACAATTGGGGCAGGGGTTATTAATTAAAAATCTTTAACTGGAGGGAGCTCCACAGGTCACGTGGTCTATTCCACTTCGCTTTTTCCAAGTGAAAATGCTGAAGTTTGGAGAAGTGAGGAGATTTACCCAAAGTCACAGCTAGTCCCAGAATCAAGAAGACACCAATGGCTTTTCACCCTTTCTAATGTACTTTACAACGTGAATTGACATGACTTGAGGACCTACGACTACATACCAGGGCCTGTGCTAGATTCAAAAGTGGGTTCCACAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCGTAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACGTATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAAAAGTGGGTTCCAATGGGCAGTGCAGACTAGGGGCTGAGAGCCTGGGATCTGGAGCCAGATTGCCTGAGTTCAAACCCCAGCTATTAAACGTGAGCATTCACGTTTAATTCATACTTAGACTGCATGAAGTATCAGTGGAAACAGGTCACCAGGGTACACTGCAAATGGAATTGTTAAGCTAGAAAAGTCTATGTCGTGTCAAAGAAATTAGGTTAATTGTTTGCAAATGGTGACCAACACAAAAAAGAAACTCACTGATCCAAAAATGTTGCCTCTGAAATCCGTGCAGAGGTATCTTCTGCTCATCACACCTGTAATCACCACAAAGCCAGCATCCTCTGATCTGATCATCAGGGCACCTATGGAGAAAAACAGGCAGGGCAAAGACTCATTGCCATCCAATTCCCACCTTCAAGCACCTCCTGAAAACCTACCTTCATGAAACCTCCCTGGATTGATTTTAAGGGTGGTGATAACTTCAGCACTCTTAAATTCAGCCTCATTTCTGCATATTCAGCGTTTCTTCTGACATCCTCTCTTGCCCCCAACACACATACAGTCATTCACCTCCTGCTTCATCTTGTTGCCTGTATGGGGCACTCTGAGCTCCTGGAATTCTTCTACCTGTGCTGAACACATGTTTCTCTCTCTCTACCTGGACCGTCTTTATTTTCCCTTTTGCCTTACTAATACCTTTGAATGTTTGTGGTGATAGTCACATTCTTCCATGCCTTCTACTTTGTGATTTTTAAATCTATGCTGAGATGTCTTTCAAGGATCCAGCTTGCCATAGAGTCTGATTCTCCTCCTGGATGTCTGTGTAATTGTCTAATACATCAGTCAACACCCAGTATGTGTACAGAATGGTAGTAGAGTTGATCTCCCTCTTCCTTCTCTACTTATTGAAGTCACTCACTCTTCAAGACCAGGCTCAGGCGTCACCATCTCTATGAAGACTTTCCTCATCTTTCCATTCAAAATCAGTTGTTCTTCCTTCTCAGCTCCTCAGGACAATGCCTTCACCTCTATTACAGCATGTATTCCATTTAACTTGCTTTAGCTGAGTTTACCTATCCAGTGCGTTCCTTAGAGTGAGCTGCTTAGGAGCAGAGGGTATAACTGTTTATGTTGAATCAATATAAGTGACGGATGGAATTTTCTTCTTGGCTCTTCTTGGGTTGGTTCTTTGTCATTTTCTCACTTGGTGGTGACCTCTCCAGGTGCAGCCCCTCATGGACTTTCAGTGTCCCCTCTCAAAAACTAGTCTCCGACAAGGGCCTGAAACCCATTCACACGACCTACCTCTTAAGTAATTGATAATGGCTTTAAATTACTGTTTTGTGGCAAAGGCACAATTAGATCATATACTGGTGTAACATGCGTGATAATTCAGCGAGATTTCTTCCCCACATGTTATTTAATTACCTGACATTTTCTGTTAAAAATCATTACTTTAGGTCTTTGGGGCTACTTCCAGTTGCCTATCACAGAATTTCTAGGTGCATCTCATCTGACCTCATAGCCTCCAGGGAGGCAGCTAGAATCCCATGCAGGGATTCTAATTCCTCTTCTGCAACTGTAGCTTGGAGAGGTTGTAAATGCCCAATGTTTGTGCCTAGCAAGTGATGGAGCCTTGTGGGGGTGATTTAAAGGCCAAAGCTCTTCTCCTATCCCATGCAGGCTCAATACAAGGACCTTTGAGGAAAATAAGCAGCAATAATTAGGTACTAGCTGAGTAGAAATCATGATAGGGACTGAAATTGGACTGACGCGGAACAGAGGGAATGAGGGTGGAGACAAGCCCCAGAAAGGTGAGAAAGGAAGAGGGCCAAAGAGAGAAGTTAATTTGTTTCAAAGTTTGGCTGAGGGGAACCTTGAGGAAAGCTTCCCAGAAAGTGGACTGGGGTATGACAGGCGCAAAGGATGCTTAAATTCCTCCACAGTGGTGTCTGCCTATGTGTCTCAAATGTATGGCTAGTTTTGTGGTAAACCTTTGGAGAAATATAAGGAACGTGTAAGAAATGGTTTCGACTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCTCTTCTCTACTAAAATACAAAAAAAATTAGCCAGGTGTGTTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTAGCAGTAAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAT
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Task1_train_16957
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A mutation on Chromosome 12 affecting AKAP3 (A-kinase anchoring protein 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Spermatogenic failure 82
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GCATATTTTATTTCCAGTATTTGAGCCATAGGGTCTTGCTTGCGCCTCGATTAGCCATGTTCACATTTGAAATAAGTCCCTAATTTCAGACTCTTCAATGAACTTCCAGAATTCAAGCGGTCAATTTTCTTCTTTCTGGAGGTAAAGAAACCTCAGACGCGGCAAGCGGAGCTGTGGGCTGAAGCCCCAGGCATGGCCCGTAGGACGAGAGTGTGTCTATGGCGGTGGTGGTGGCCGTGGCATCTGCTCTTTGGGCTGCTACCCTCACCGACATTTCTACTTTGATATGTGTACTTTTTATTTTCCAAAATGAATGATAAGGTTCAGAGGGGCAGTAACTGTTATATACCTTTTTGTTTCTCACTTAGTAAAAAATCACTAAGTTCATTTGATTTAACATTGAAACTGATCTGCCTTTTGTTTCTCCAAATGAAAGGGCAGAAGTAAATCAAAGATCTAGTTGAAGCAGTTTTGGTTGGCCCTTACTCTATAGTAATTGAATATTTATTATCTTTATGTCTAATGTCTTATGTAGATTTGTTAATATTTTCTTTTTAAAACTTTATATAGATCGACCAGATTTGGACAAATAGAAGAAGATGGGTCATTTGCATTTGATTACATGCAAATAAATGTTTGATAAATGTTAACTTTTTTTTTATTTTGAGACAAGGTCTCACTGTTGCCCAGGCTGGAGCTCAGTGGCATGGTCACAGCTCACTACGACCTCAAACTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTTGCTGTGACTACAGACGTGTGCAACCACTCTGGCTAATTCTTTTTTTAGTAAAGACAGAGTTTTGCCGTGTTGCCTGGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAGGTGTTAGGATTACAGGTGTGAGCCACTGTGCCCAGTCTGATAAATGATGTAATAGGATAGAGTCTATTAATAATAGTGATTCCATTAGATTATGAGATCCTTAAAAGGAGAGAATTCTAATTTATTTTTATATCTCTGACCCTGACAGTCAGGACAGTGTCTGTGCCAGTTATTGACTTACTGTCTCTCACTCCAAATCCACCCTTCTTTGCCTTGCTTTGTGATACCAGAGCTAAACCCTAAACATTTCTCCTTTGCGGTTGGCATTGTCGACAGAGGGTACTGGGGGACACTGCATGGTCAGAGCAGGAGGAAAGGGCTTCCCTCTGGCAAGTTTCCTATGGCAGCCACATTCTCTCCAAAGAGATGGGAAGCAGCTTTGGTTGAGGGAGAGCGAGCTCTTGTGAGTATTTACTTAGTTTCTTCCTTGTTTATGTAATTCTCAGCCTGGGGGTAGTAGCTGCTTTCTGCATTTGTTATTTCTGGGATTCCTAGAGTCCTCTTTTATGCCTTTTAGTAGTTAACTACGTTTTATTAATAAATAATTTTTAAATGTTAAGTTACTGGTACGGTTTCTATCTTCTGACTAGACCCTGACGATACATTGCCTGATATTAAGTAAGCATTTAATACATGTTTGTTGAATGATGAAGGCAGGATGACAATGTTACTTAGATGAGAGTTTATAGTTCTGAGAATTTTAAGGCATCCTACACTTTAGAAAATATTTTCTATAAGCCTTGGAGACATTTATCTCCAATTCCTCTCTGTTTGAAAATTAAAATTTTATAGCTGTAATATACAGCTGACATATACATATATATTTATATATACATACATGATATATGTTATACAGCTTATATGTACATACATATTTCATTAGTTATAGCATATTAAATACCATAGGATGGGAATTTTTTCCAGAAAACTATAAATGGGAATGTTTTGTTCTATAAGGGCTGATTTCCCACCTGCCTCAAGAATCCCACCTTGAAAAATAAGAGGTTGGTGGTATGGTGGAGAGAATAAGGCTACTCTTAATGACAGCCCCCATATTCTTAACCTAGTGTTTATCAAGAGGTTGACCCTTACCATTTTCCAGTCCTGGGCTTGGTTGTCTCCAGGAGAATAGACATCAACTTTGCATACTCCATTTTGGCTTTGTAACCAGTCAACCTTTTCTGACATCTGGAAGCAGGGGAAAAAAATGAGAAAGGGTCATCACAAGGGCAGATTTTATGAAAGTAAGAAGAAATGTGGTAAAGGGCTAAAGCACGGGAAAGATGAACAATGCCTTCAATAGAGACCTTCCCCAACAGCCACTTCAGAACCACTCCACCCTGAATAGCTTCATCCTCAGCTCTCAATGGAAGGAATATTTCTTAAACATATTTGTAACTCTAAGGAAGAAGCTGGTGCCTGGTATCTGCGACAGGTGCTTAACACATCTTTGTTAAATGAATGAACCTAGGCAGCCATGTCCCGCCCCTTTATGTCCTTGCTTGACGACCCTCCCCCTGCACTCACAGGATTTTCAGTAGACACTCAAAACTCAAGGTGACCAAAATAGAATTAATTTACTGCTCCTTTGTCTGTTCTTGCCCCACCAACTTAGCTTTTAAGTAATTGTTTCATTTTTAATTAATTTCTAAAGCTGTTACTTACTCATACCAGCAGTAAGTCTGGTAGCTCTTTCTTAAGACCAATCCCTCCTCATTAGCCAAGGATCCTGGGGGAATTCTCAGCCTCTATGGTTCAGCTAAATTTCTGAGTATCAGTCAGGACAAAAGAGATGTCATGTGCGCCATTCAAAAGGCCTTTGTCTATGGACGCAGTGATTTCCTTGTTGATGTGAATTCGTTCACAACCTTCCCAATACTTTGCTCTATTCCCTAATCTCAGTAATGGCACCACCATTTACCTGGTCTTCTAAGCCAGAAAACTGAGATTCATTTTAATTGTCTTCTTCCACCCCAAGCTTCCCTCTAGCTACTATTTCTCTCTTTTTCCATTTGCAGTCATTTTTCTTAAACATATTGCTTATACCTGCTGCTTTCATTGATTCTCCTTGCAAATGAGTATTATATGTACATACCTATTATATGTACTCCTTTGGGCTTTGGCCTTAGTCTCACACACTTTCCACAACACCGAATCTTACTTGCTAGTCTTTGAAAACATGGCCAACTCTCATGATGACTGAGAGTTATCCACTGATCATCTAAAAGTATGAGAACCTTCTCTTTGCCCTCTTTTTCTATGCCAGACTTCCATTCCCAGGCTTTCACACTGAAGTTTCCCTTCTTATATTCTTTGCTCAGCTCACCCCTCCTTCCCTCTTCATCCCTTAGGCTCGGTTGGCGTTAAAAAATTTTTTTCTTTTGGGGGGTGCAGTAATATTTAATTTAATTTAATTTTTTCTTTTTTAAAATTATACTTTTAAGTTCTAGGGCACATGTGCACAACGTGCAGGTTTGTTACATATGTATACGTGTGCTGTCTTGGTTTGCTGCCCCCATTAGCTCATCATTTACATTAGGTATTTCTCCTAATGCTGTCCCTCCCCCATCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCGCCCTGTGTCTAAGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCAGTGTTTGGTTTTCTGTCCTTGCGATAGTTTGCTCAGAATGATGGTTTCCAGCTTCATCCCTGTCACTACAAAGGACATGAACTCATCTTTTTTTATGGCTGCATAGTATTCCATGATGGATATGTGCCACATTTTCTTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTTCGCCCAGGCCGAACTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACAACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTATGTGCCACATTTTCTTAATCCAGTCTATCATTGATGGACATTTGGGTTGGTGGCGTTAAAAAATTTAAAAACAAACAAAAAAA
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GCATATTTTATTTCCAGTATTTGAGCCATAGGGTCTTGCTTGCGCCTCGATTAGCCATGTTCACATTTGAAATAAGTCCCTAATTTCAGACTCTTCAATGAACTTCCAGAATTCAAGCGGTCAATTTTCTTCTTTCTGGAGGTAAAGAAACCTCAGACGCGGCAAGCGGAGCTGTGGGCTGAAGCCCCAGGCATGGCCCGTAGGACGAGAGTGTGTCTATGGCGGTGGTGGTGGCCGTGGCATCTGCTCTTTGGGCTGCTACCCTCACCGACATTTCTACTTTGATATGTGTACTTTTTATTTTCCAAAATGAATGATAAGGTTCAGAGGGGCAGTAACTGTTATATACCTTTTTGTTTCTCACTTAGTAAAAAATCACTAAGTTCATTTGATTTAACATTGAAACTGATCTGCCTTTTGTTTCTCCAAATGAAAGGGCAGAAGTAAATCAAAGATCTAGTTGAAGCAGTTTTGGTTGGCCCTTACTCTATAGTAATTGAATATTTATTATCTTTATGTCTAATGTCTTATGTAGATTTGTTAATATTTTCTTTTTAAAACTTTATATAGATCGACCAGATTTGGACAAATAGAAGAAGATGGGTCATTTGCATTTGATTACATGCAAATAAATGTTTGATAAATGTTAACTTTTTTTTTATTTTGAGACAAGGTCTCACTGTTGCCCAGGCTGGAGCTCAGTGGCATGGTCACAGCTCACTACGACCTCAAACTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTTGCTGTGACTACAGACGTGTGCAACCACTCTGGCTAATTCTTTTTTTAGTAAAGACAGAGTTTTGCCGTGTTGCCTGGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAGGTGTTAGGATTACAGGTGTGAGCCACTGTGCCCAGTCTGATAAATGATGTAATAGGATAGAGTCTATTAATAATAGTGATTCCATTAGATTATGAGATCCTTAAAAGGAGAGAATTCTAATTTATTTTTATATCTCTGACCCTGACAGTCAGGACAGTGTCTGTGCCAGTTATTGACTTACTGTCTCTCACTCCAAATCCACCCTTCTTTGCCTTGCTTTGTGATACCAGAGCTAAACCCTAAACATTTCTCCTTTGCGGTTGGCATTGTCGACAGAGGGTACTGGGGGACACTGCATGGTCAGAGCAGGAGGAAAGGGCTTCCCTCTGGCAAGTTTCCTATGGCAGCCACATTCTCTCCAAAGAGATGGGAAGCAGCTTTGGTTGAGGGAGAGCGAGCTCTTGTGAGTATTTACTTAGTTTCTTCCTTGTTTATGTAATTCTCAGCCTGGGGGTAGTAGCTGCTTTCTGCATTTGTTATTTCTGGGATTCCTAGAGTCCTCTTTTATGCCTTTTAGTAGTTAACTACGTTTTATTAATAAATAATTTTTAAATGTTAAGTTACTGGTACGGTTTCTATCTTCTGACTAGACCCTGACGATACATTGCCTGATATTAAGTAAGCATTTAATACATGTTTGTTGAATGATGAAGGCAGGATGACAATGTTACTTAGATGAGAGTTTATAGTTCTGAGAATTTTAAGGCATCCTACACTTTAGAAAATATTTTCTATAAGCCTTGGAGACATTTATCTCCAATTCCTCTCTGTTTGAAAATTAAAATTTTATAGCTGTAATATACAGCTGACATATACATATATATTTATATATACATACATGATATATGTTATACAGCTTATATGTACATACATATTTCATTAGTTATAGCATATTAAATACCATAGGATGGGAATTTTTTCCAGAAAACTATAAATGGGAATGTTTTGTTCTATAAGGGCTGATTTCCCACCTGCCTCAAGAATCCCACCTTGAAAAATAAGAGGTTGGTGGTATGGTGGAGAGAATAAGGCTACTCTTAATGACAGCCCCCATATTCTTAACCTAGTGTTTATCAAGAGGTTGACCCTTACCATTTTCCAGTCCTGGGCTTGGTTGTCTCCAGGAGAATAGACATCAACTTTGTATACTCCATTTTGGCTTTGTAACCAGTCAACCTTTTCTGACATCTGGAAGCAGGGGAAAAAAATGAGAAAGGGTCATCACAAGGGCAGATTTTATGAAAGTAAGAAGAAATGTGGTAAAGGGCTAAAGCACGGGAAAGATGAACAATGCCTTCAATAGAGACCTTCCCCAACAGCCACTTCAGAACCACTCCACCCTGAATAGCTTCATCCTCAGCTCTCAATGGAAGGAATATTTCTTAAACATATTTGTAACTCTAAGGAAGAAGCTGGTGCCTGGTATCTGCGACAGGTGCTTAACACATCTTTGTTAAATGAATGAACCTAGGCAGCCATGTCCCGCCCCTTTATGTCCTTGCTTGACGACCCTCCCCCTGCACTCACAGGATTTTCAGTAGACACTCAAAACTCAAGGTGACCAAAATAGAATTAATTTACTGCTCCTTTGTCTGTTCTTGCCCCACCAACTTAGCTTTTAAGTAATTGTTTCATTTTTAATTAATTTCTAAAGCTGTTACTTACTCATACCAGCAGTAAGTCTGGTAGCTCTTTCTTAAGACCAATCCCTCCTCATTAGCCAAGGATCCTGGGGGAATTCTCAGCCTCTATGGTTCAGCTAAATTTCTGAGTATCAGTCAGGACAAAAGAGATGTCATGTGCGCCATTCAAAAGGCCTTTGTCTATGGACGCAGTGATTTCCTTGTTGATGTGAATTCGTTCACAACCTTCCCAATACTTTGCTCTATTCCCTAATCTCAGTAATGGCACCACCATTTACCTGGTCTTCTAAGCCAGAAAACTGAGATTCATTTTAATTGTCTTCTTCCACCCCAAGCTTCCCTCTAGCTACTATTTCTCTCTTTTTCCATTTGCAGTCATTTTTCTTAAACATATTGCTTATACCTGCTGCTTTCATTGATTCTCCTTGCAAATGAGTATTATATGTACATACCTATTATATGTACTCCTTTGGGCTTTGGCCTTAGTCTCACACACTTTCCACAACACCGAATCTTACTTGCTAGTCTTTGAAAACATGGCCAACTCTCATGATGACTGAGAGTTATCCACTGATCATCTAAAAGTATGAGAACCTTCTCTTTGCCCTCTTTTTCTATGCCAGACTTCCATTCCCAGGCTTTCACACTGAAGTTTCCCTTCTTATATTCTTTGCTCAGCTCACCCCTCCTTCCCTCTTCATCCCTTAGGCTCGGTTGGCGTTAAAAAATTTTTTTCTTTTGGGGGGTGCAGTAATATTTAATTTAATTTAATTTTTTCTTTTTTAAAATTATACTTTTAAGTTCTAGGGCACATGTGCACAACGTGCAGGTTTGTTACATATGTATACGTGTGCTGTCTTGGTTTGCTGCCCCCATTAGCTCATCATTTACATTAGGTATTTCTCCTAATGCTGTCCCTCCCCCATCCCCCCACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCGCCCTGTGTCTAAGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCAGTGTTTGGTTTTCTGTCCTTGCGATAGTTTGCTCAGAATGATGGTTTCCAGCTTCATCCCTGTCACTACAAAGGACATGAACTCATCTTTTTTTATGGCTGCATAGTATTCCATGATGGATATGTGCCACATTTTCTTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTTCGCCCAGGCCGAACTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACAACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTATGTGCCACATTTTCTTAATCCAGTCTATCATTGATGGACATTTGGGTTGGTGGCGTTAAAAAATTTAAAAACAAACAAAAAAA
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Task1_train_16958
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A variant affecting Chromosome 12, within the gene NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 26
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TTGAACCAAATAAAATAAAATCTTGAACTTACCATGTCACACCCTAGTGGTCTGGTTAAGGAGACTGTCACATCCATTGTGCCACAAACTGATCTTCATTTGGGTTTTCATCCATTCATTCAACAAATGTTTATTGAATGCCTACTATGTCTTAGATAATGTACTAGGTACTCAGAAGGTTACAACAAACACTCAAAAATCTTATGGTCAGAATGTTACAACAAAAACTCAAAAATCTTATGGTCTAACAGGGGTACCAGAAAAATAGACCACTAGAATGCAGGGTGATAACGATATTTATTGAGTGTTACACCTTTCAGACTATTCACTTTGTCTCCTTTAATACTCAGTTATCTATAAAGTAAGTAAGGAGAGTATGTGGAGTGAGTGGAAGAGGAGGCCACAGAGTAAGAGAAACTTACAAGAAGGCCAAAAAGTGATCAGGCATTTAAGTGGGAAATGAGAGTTTGGAATTCTAGATACCAAAGGGAATGGAGTGTTTTCAGGAGAGAATCGATGTTTTAAGAAGGGGAACATTGCTGTTCATTCACATGTATCTCAAGCCCCTAGAACAATGCCTGGTACACATTAGGCACTCTGTTAATATTGGTAGAATGAAGTCTTACAGAAAAGTCAAATAAGATAAAGGACCAAAAAATGTCTACAAATGACCATTGTGACCGTGGCTTCAGTGCCGTGAAAGGGATATAAGCCAGATTGCAGTGAGGCACTTTCATGGTTGTATATAAAATTGAGTTAGAGTTGGCTTATGTATGCCCATGACATGGCCCACTGAGGACACTAGAATAGAGACCTGAAGTGATCTGTTAGCATAGAATGAGGGCACAGAGAGTTAGAGGTTTGTAATGAGTGTTTTTATTAAGCTATGTTAGCCCAATAAATTATTTTTTTCTGCCGTTGAGGAATCTGAGGCTTTATATGTTGCTGGAGAAATTCCAGCCAGCTTCCTTTTTCATTTATTTATACTATGCATTAGAATGTTGTTTTTCAAGCCTTTAAACGGCTGTGGAACCCTGTGCTCACTGAAGTTTTACGTCAAGTCCTGCTGGGTAAATCCAATAAAAGAGCTGGTCTGGTTGCAGTGATGGGTGATACTCAACGCATGTACTCCCAAACCCTTGGCCCCCCAGGACTCTGTGGGGCCCCAGCAAATTCCTAGTGTTCCTCAGATGCTAGTTGAAAACCCACTGCTACTGGGCACAGTGGTGTACACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAGGATCACTTGAGCCTGGGAGTGTGAGTCCGGCCTGGACAACATAGTGAGACCCTGTCTGTGGAACAAAAACAAGGAAAGAAAAGAAAAAGTCACTGCCCTGAGGTAACTGATGATGGGAGCTCAAGTGGCACGTAAGGAGCCCTTCAATTTTCATTAGCAGTGAAGAGATGGCAGTAATGAAGATAGGTGGCCTTTTCCGTTTTGGGTTTTATATTGTCGTCCTGATTTGAACCGTAGATTTTAGCCTTCTCCTTGCTTTTGGATTTTTTTTTTTTTCCTCAAGGGCCCCAGCTTTCAGGGGTTACGTTGTATATTTTACACACCATTCAGCTTGCCCTGCTTCTGTAAAGGCAGCATATTTGAATATCTGAGGTTTAGATTAAATTGAATTTCACAGACTTGATTAAATACTGGAGTTTTTCTGTTTGCTTTGTTGTTTGTTGGTTTTATTTCATTTTAAGTTTAAGATCTGTTGTTTCTTTGGAGGAGAACAAAGTGTACCAGCAGTTACAGCAGCCGACTGGGTTGGCTTGAGAGGAGATGGACCAAAAAGCAGAGGTAGCCTCACAGGTCGAGGTGGTTATTTTCTTAAAAAAAAAAAATCAGTTCAGACTGCTCTACAGCGGTCTGTCTTCCTGCAGTTCTCATAGGCTAGCTTACATCTTGGGCAGAGAGATGCTTATCACATGTGCTATATGTATTTCTCTTTCCAGATGGGTAGCAAGAGTCTTTGAAATAAGCCCATTTGAGCCCTGGATAACAAGGGATAAAGTGGAGCGGGTGAGTACATGTGTGGAAAGCGTCTGCCTGGGCAGATGATGAGGCGTTAGACTTATTTTGCTTTGCCTGCTTGCTTGTTTCCCGGCCCTTGTCTGTTTGCTGTTCTTGCTGTCTGCAGTCAGCCCCTCTACTAGCGCTGAAGCTCATCCACCTGCCCTGCTCCAGGGGGCGGCTCCTCCCTACTTTCTGTCCGTCATTATCAGTGTTTCTTTCTCTGCTTGATCACTCCTGTCAACACACAAAATTGCCTAATAGCTCCCCTGCCAAAGCCTCTCTTCCTCCCATCACTCTTCCAGCTACTTTCCTGTTGTGTCCCTTCACATCCTAACTCCTCCTAACTTCCTCCTAACGTCCTGAAGAAACTGTTGACAGTTTCTTCCTTCTTTCTTTAACCTACTCCAGTCAGGCTTTTATTCCCATTTCTCCCCTAAAATTGCTCTTTTCAAGGTTATCCACAATCTCCAGTCTCCTTGCTGCCACATCCAATGGTCAGTTCTCAGACCTCATGTCATGTGCCTGTGCATTTGCTTCTAGGGAGGATGCAAAATAAAATAAAAATACTATACCAATACCACATCTACCTTGGAAGACCTATGGACCATATATTGGCAAGAAGTAGCCAAATTGTCCCCTGAATGCTGCCTGAAAGCTAAAGTGTAGAGAAGATGAGAAAGTAGTGCTTAGGGAACATGTGGAAGTGGGCAACTCACATACTTTCTTCAGACATGGTCTATGAAAGATCAGGCAGGATCGCTGGTTGTCAGACACTTCAGTTTATCTTACACTAAAGTGTCTCTTACGTTTATACTTGAGAAAGTGTTGATACAGTGGCCTGAGTAGGTTTTGGATTTGGTTTGCAGACTGGCTTACAGCCCTCTGGTAAAAGAATTGCAGACTTTCAGGTGGGTAGGATGAGGGATTGCTGCTGCTCTAGGTGCAAATGGATTCTATTTATGTGGTTTTGAATAATAATCTGGGATGTTTGCAAACTTTACAGTTCATTATCTTTCCCTATAAACAAGATGGGTTTGGTTTTCTAGCTCTACAGTGAGCATTAGTCAACCAGGTTGAGTACAGCTGGAGCAAAAAAAGTTACTTGTTTTTTTTTTTTTTTAATGGGCAAGGAACAAATGTTGTGTTATCTCCTAAATTCAAAGTTAAAACTGAGTCAGAACGCCCGTGCTCAGAAAACAGGGGCGTGAGAGGACTGAGGAATGGACCAGCTCTGCTTAAGCCCTGATTTTATTCCTAAACCCTCCTGTTCAGCCTCCCCTGGCAAGTGTGGTGACTTGTGCTTCCCTGCCCTAGATTTATTTCTGTTGAAATCTGTATATAGAATGGCTCATGTAGTGCCAACATCCTGTGCTCGCGGCTGCCACTGGGGACCTCGATCTGATACTTGGTGATCTCGCCCTCTTTTGTCTTAAGCCCTCTTTGTGTGTTCTGCTTTTATAGTGATTTGCATGAATCGAAAATTGCCACATATTCTTTGAAAGCAATTAAGTCTCAATAATAGGACTCATGCCAGCTTGAATGTTTAAGTGCCTGCTAGGATAGCACTTTGTTCTCAGCCAGTTTTCAGCATTGTCTGTGGTCCTTTGTTTATCCAAAGATGCACATCACAGACATGAAATTGCCTCACCTGCCTGGCTTAGAAGACCTTGGTATTCAGGCAACACCACTGGAACTCAAGGCCATTGAGGTGCTGCGGCGTCATCGCACTTACCGCTGGCTGTCTGCTGAAATTGAGGATGTGAAGCCGGCCAAGACCGTCAACATTTAGTGCCTCCTGAGCAGCTCTTGGTTTTGGCGTCTTTTGGGTCGGCCCATGTGGTTTGAGCACCCAGCCAGGCGGTCTCTTTAGAGGATCCTGTACACAGTTCCACTATTAAAACATTTCAGGTTGAATTCTGCAGTATTTTCTTCCTTGATTTACAAAATGAGAAATGTAGTCACTTAGAACTTGAGCATGATTTTTGTTAAACATATTTAATAATGATATATATACTATTTATTCTCTGAAATGCCAGAGAGTTTGAATTTTCC
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TTGAACCAAATAAAATAAAATCTTGAACTTACCATGTCACACCCTAGTGGTCTGGTTAAGGAGACTGTCACATCCATTGTGCCACAAACTGATCTTCATTTGGGTTTTCATCCATTCATTCAACAAATGTTTATTGAATGCCTACTATGTCTTAGATAATGTACTAGGTACTCAGAAGGTTACAACAAACACTCAAAAATCTTATGGTCAGAATGTTACAACAAAAACTCAAAAATCTTATGGTCTAACAGGGGTACCAGAAAAATAGACCACTAGAATGCAGGGTGATAACGATATTTATTGAGTGTTACACCTTTCAGACTATTCACTTTGTCTCCTTTAATACTCAGTTATCTATAAAGTAAGTAAGGAGAGTATGTGGAGTGAGTGGAAGAGGAGGCCACAGAGTAAGAGAAACTTACAAGAAGGCCAAAAAGTGATCAGGCATTTAAGTGGGAAATGAGAGTTTGGAATTCTAGATACCAAAGGGAATGGAGTGTTTTCAGGAGAGAATCGATGTTTTAAGAAGGGGAACATTGCTGTTCATTCACATGTATCTCAAGCCCCTAGAACAATGCCTGGTACACATTAGGCACTCTGTTAATATTGGTAGAATGAAGTCTTACAGAAAAGTCAAATAAGATAAAGGACCAAAAAATGTCTACAAATGACCATTGTGACCGTGGCTTCAGTGCCGTGAAAGGGATATAAGCCAGATTGCAGTGAGGCACTTTCATGGTTGTATATAAAATTGAGTTAGAGTTGGCTTATGTATGCCCATGACATGGCCCACTGAGGACACTAGAATAGAGACCTGAAGTGATCTGTTAGCATAGAATGAGGGCACAGAGAGTTAGAGGTTTGTAATGAGTGTTTTTATTAAGCTATGTTAGCCCAATAAATTATTTTTTTCTGCCGTTGAGGAATCTGAGGCTTTATATGTTGCTGGAGAAATTCCAGCCAGCTTCCTTTTTCATTTATTTATACTATGCATTAGAATGTTGTTTTTCAAGCCTTTAAACGGCTGTGGAACCCTGTGCTCACTGAAGTTTTACGTCAAGTCCTGCTGGGTAAATCCAATAAAAGAGCTGGTCTGGTTGCAGTGATGGGTGATACTCAACGCATGTACTCCCAAACCCTTGGCCCCCCAGGACTCTGTGGGGCCCCAGCAAATTCCTAGTGTTCCTCAGATGCTAGTTGAAAACCCACTGCTACTGGGCACAGTGGTGTACACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAGGATCACTTGAGCCTGGGAGTGTGAGTCCGGCCTGGACAACATAGTGAGACCCTGTCTGTGGAACAAAAACAAGGAAAGAAAAGAAAAAGTCACTGCCCTGAGGTAACTGATGATGGGAGCTCAAGTGGCACGTAAGGAGCCCTTCAATTTTCATTAGCAGTGAAGAGATGGCAGTAATGAAGATAGGTGGCCTTTTCCGTTTTGGGTTTTATATTGTCGTCCTGATTTGAACCGTAGATTTTAGCCTTCTCCTTGCTTTTGGATTTTTTTTTTTTTCCTCAAGGGCCCCAGCTTTCAGGGGTTACGTTGTATATTTTACACACCATTCAGCTTGCCCTGCTTCTGTAAAGGCAGCATATTTGAATATCTGAGGTTTAGATTAAATTGAATTTCACAGACTTGATTAAATACTGGAGTTTTTCTGTTTGCTTTGTTGTTTGTTGGTTTTATTTCATTTTAAGTTTAAGATCTGTTGTTTCTTTGGAGGAGAACAAAGTGTACCAGCAGTTACAGCAGCCGACTGGGTTGGCTTGAGAGGAGATGGACCAAAAAGCAGAGGTAGCCTCACAGGTCGAGGTGGTTATTTTCTTAAAAAAAAAAAATCAGTTCAGACTGCTCTACAGCGGTCTGTCTTCCTGCAGTTCTCATAGGCTAGCTTACATCTTGGGCAGAGAGATGCTTATCACATGTGCTATATGTATTTCTCTTTCCAGATGGGTAGCAAGAGTCTTTGAAATAAGCCCATTTGAGCCCTGGATAACAAGGGATAAAGTGGAGCCGGTGAGTACATGTGTGGAAAGCGTCTGCCTGGGCAGATGATGAGGCGTTAGACTTATTTTGCTTTGCCTGCTTGCTTGTTTCCCGGCCCTTGTCTGTTTGCTGTTCTTGCTGTCTGCAGTCAGCCCCTCTACTAGCGCTGAAGCTCATCCACCTGCCCTGCTCCAGGGGGCGGCTCCTCCCTACTTTCTGTCCGTCATTATCAGTGTTTCTTTCTCTGCTTGATCACTCCTGTCAACACACAAAATTGCCTAATAGCTCCCCTGCCAAAGCCTCTCTTCCTCCCATCACTCTTCCAGCTACTTTCCTGTTGTGTCCCTTCACATCCTAACTCCTCCTAACTTCCTCCTAACGTCCTGAAGAAACTGTTGACAGTTTCTTCCTTCTTTCTTTAACCTACTCCAGTCAGGCTTTTATTCCCATTTCTCCCCTAAAATTGCTCTTTTCAAGGTTATCCACAATCTCCAGTCTCCTTGCTGCCACATCCAATGGTCAGTTCTCAGACCTCATGTCATGTGCCTGTGCATTTGCTTCTAGGGAGGATGCAAAATAAAATAAAAATACTATACCAATACCACATCTACCTTGGAAGACCTATGGACCATATATTGGCAAGAAGTAGCCAAATTGTCCCCTGAATGCTGCCTGAAAGCTAAAGTGTAGAGAAGATGAGAAAGTAGTGCTTAGGGAACATGTGGAAGTGGGCAACTCACATACTTTCTTCAGACATGGTCTATGAAAGATCAGGCAGGATCGCTGGTTGTCAGACACTTCAGTTTATCTTACACTAAAGTGTCTCTTACGTTTATACTTGAGAAAGTGTTGATACAGTGGCCTGAGTAGGTTTTGGATTTGGTTTGCAGACTGGCTTACAGCCCTCTGGTAAAAGAATTGCAGACTTTCAGGTGGGTAGGATGAGGGATTGCTGCTGCTCTAGGTGCAAATGGATTCTATTTATGTGGTTTTGAATAATAATCTGGGATGTTTGCAAACTTTACAGTTCATTATCTTTCCCTATAAACAAGATGGGTTTGGTTTTCTAGCTCTACAGTGAGCATTAGTCAACCAGGTTGAGTACAGCTGGAGCAAAAAAAGTTACTTGTTTTTTTTTTTTTTTAATGGGCAAGGAACAAATGTTGTGTTATCTCCTAAATTCAAAGTTAAAACTGAGTCAGAACGCCCGTGCTCAGAAAACAGGGGCGTGAGAGGACTGAGGAATGGACCAGCTCTGCTTAAGCCCTGATTTTATTCCTAAACCCTCCTGTTCAGCCTCCCCTGGCAAGTGTGGTGACTTGTGCTTCCCTGCCCTAGATTTATTTCTGTTGAAATCTGTATATAGAATGGCTCATGTAGTGCCAACATCCTGTGCTCGCGGCTGCCACTGGGGACCTCGATCTGATACTTGGTGATCTCGCCCTCTTTTGTCTTAAGCCCTCTTTGTGTGTTCTGCTTTTATAGTGATTTGCATGAATCGAAAATTGCCACATATTCTTTGAAAGCAATTAAGTCTCAATAATAGGACTCATGCCAGCTTGAATGTTTAAGTGCCTGCTAGGATAGCACTTTGTTCTCAGCCAGTTTTCAGCATTGTCTGTGGTCCTTTGTTTATCCAAAGATGCACATCACAGACATGAAATTGCCTCACCTGCCTGGCTTAGAAGACCTTGGTATTCAGGCAACACCACTGGAACTCAAGGCCATTGAGGTGCTGCGGCGTCATCGCACTTACCGCTGGCTGTCTGCTGAAATTGAGGATGTGAAGCCGGCCAAGACCGTCAACATTTAGTGCCTCCTGAGCAGCTCTTGGTTTTGGCGTCTTTTGGGTCGGCCCATGTGGTTTGAGCACCCAGCCAGGCGGTCTCTTTAGAGGATCCTGTACACAGTTCCACTATTAAAACATTTCAGGTTGAATTCTGCAGTATTTTCTTCCTTGATTTACAAAATGAGAAATGTAGTCACTTAGAACTTGAGCATGATTTTTGTTAAACATATTTAATAATGATATATATACTATTTATTCTCTGAAATGCCAGAGAGTTTGAATTTTCC
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Task1_train_16959
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This variant impacts the gene KCNA1 (potassium voltage-gated channel subfamily A member 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Inborn genetic diseases
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TCGCTGCTCGGTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTT
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TCGCTGCTCGGTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCTTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTT
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Task1_train_16960
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This alteration occurs within gene KCNA1 (potassium voltage-gated channel subfamily A member 1) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
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Pathogenic; Episodic ataxia type 1
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TCGCTGCTCGGTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTT
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TCGCTGCTCGGTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCTTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTT
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Task1_train_16961
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Assess the clinical impact of this variant on gene KCNA1 (potassium voltage-gated channel subfamily A member 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Episodic ataxia type 1
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GTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCA
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GTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCAACCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCA
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Task1_train_16962
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A genetic alteration is present in KCNA1 (potassium voltage-gated channel subfamily A member 1) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Episodic ataxia type 1
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GTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGC
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GTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTGTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGC
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Task1_train_16963
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Given this context: Chromosome 12, gene KCNA1 (potassium voltage-gated channel subfamily A member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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GGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGG
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GGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAGCGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGG
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Task1_train_16964
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The gene KCNA1 (potassium voltage-gated channel subfamily A member 1) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Myokymia 1
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GTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGT
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GTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAAAGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGT
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Task1_train_16965
|
A variant affecting Chromosome 12, within the gene KCNA1 (potassium voltage-gated channel subfamily A member 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Episodic ataxia type 1
|
GTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGT
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GTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAAGGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGT
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Task1_train_16966
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A variant on Chromosome 12 in gene KCNA1 (potassium voltage-gated channel subfamily A member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Episodic ataxia type 1
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CAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCT
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CAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGAGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCT
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Task1_train_16967
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A variant on Chromosome 12 in gene KCNA1 (potassium voltage-gated channel subfamily A member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; not provided
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GCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAAT
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GCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCCCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAAT
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Task1_train_16968
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A genetic alteration is present in KCNA1 (potassium voltage-gated channel subfamily A member 1) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Myokymia 1
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CGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGT
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CGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCACAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGT
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Task1_train_16969
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Chromosome 12 houses a mutation in gene KCNA1 (potassium voltage-gated channel subfamily A member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Episodic ataxia type 1
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TCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTAT
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TCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACATCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTAT
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Task1_train_16970
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A variant was discovered on Chromosome 12, affecting KCNA1 (potassium voltage-gated channel subfamily A member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Myokymia 1 with hypomagnesemia
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TAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAA
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TAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGGACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAA
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Task1_train_16971
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A variant affecting Chromosome 12, within the gene KCNA1 (potassium voltage-gated channel subfamily A member 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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AGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAG
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AGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGACCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAG
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Task1_train_16972
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With a mutation on Chromosome 12 in gene KCNA1 (potassium voltage-gated channel subfamily A member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Episodic ataxia type 1
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GGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTCAATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGACAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCATGTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCAT
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GGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGACCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTCAATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGACAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCATGTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCAT
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Task1_train_16973
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This variant affects the gene KCNA1 (potassium voltage-gated channel subfamily A member 1) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Episodic ataxia type 1
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GTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTCAATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGACAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCATGTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCATCCGAAGCAGAGCTGATTTTTTTTTCTTTGCAGTCATTCTTTGAAGTCTGTAGAGACTTCAGCCCTCCCCTTGAGGCTCCCTGAAGAAACTAAACCAATTGATTTAATAGTTGCTTAGTGCCTTTATCCTGTACCCACAGTGAACTGTAGAAAGTGCCTCCTTAACACAGCTGAGAAGTTAGGTAGCAAAAGTGGGGAAGGGTTGGGGCACAGACCTTTTGCTTTTTCTTTTTCCA
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GTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCATACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTCAATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGACAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCATGTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCATCCGAAGCAGAGCTGATTTTTTTTTCTTTGCAGTCATTCTTTGAAGTCTGTAGAGACTTCAGCCCTCCCCTTGAGGCTCCCTGAAGAAACTAAACCAATTGATTTAATAGTTGCTTAGTGCCTTTATCCTGTACCCACAGTGAACTGTAGAAAGTGCCTCCTTAACACAGCTGAGAAGTTAGGTAGCAAAAGTGGGGAAGGGTTGGGGCACAGACCTTTTGCTTTTTCTTTTTCCA
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Task1_train_16974
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This alteration in KCNA1 (potassium voltage-gated channel subfamily A member 1) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Episodic ataxia type 1
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GGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTCAATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGACAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCATGTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCATCCGAAGCAGAGCTGATTTTTTTTTCTTTGCAGTCATTCTTTGAAGTCTGTAGAGACTTCAGCCCTCCCCTTGAGGCTCCCTGAAGAAACTAAACCAATTGATTTAATAGTTGCTTAGTGCCTTTATCCTGTACCCACAGTGAACTGTAGAAAGTGCCTCCTTAACACAGCTGAGAAGTTAGGTAGCAAAAGTGGGGAAGGGTTGGGGCACAGACCTTTTGCTTTTTCTTTTTCCATTCT
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GGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACTTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTCAATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGACAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCATGTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCATCCGAAGCAGAGCTGATTTTTTTTTCTTTGCAGTCATTCTTTGAAGTCTGTAGAGACTTCAGCCCTCCCCTTGAGGCTCCCTGAAGAAACTAAACCAATTGATTTAATAGTTGCTTAGTGCCTTTATCCTGTACCCACAGTGAACTGTAGAAAGTGCCTCCTTAACACAGCTGAGAAGTTAGGTAGCAAAAGTGGGGAAGGGTTGGGGCACAGACCTTTTGCTTTTTCTTTTTCCATTCT
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Task1_train_16975
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Gene KCNA1 (potassium voltage-gated channel subfamily A member 1), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Episodic ataxia type 1
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GTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTCAATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGACAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCATGTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCATCCGAAGCAGAGCTGATTTTTTTTTCTTTGCAGTCATTCTTTGAAGTCTGTAGAGACTTCAGCCCTCCCCTTGAGGCTCCCTGAAGAAACTAAACCAATTGATTTAATAGTTGCTTAGTGCCTTTATCCTGTACCCACAGTGAACTGTAGAAAGTGCCTCCTTAACACAGCTGAGAAGTTAGGTAGCAAAAGTGGGGAAGGGTTGGGGCACAGACCTTTTGCTTTTTCTTTTTCCATTCTCGCTCTCTC
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GTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGTGGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGGGGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGTTAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCCCCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTCCAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCCCGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGGGGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTCCTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGCGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGCTCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATACTTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATTTTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTATTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACGAACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTTTGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTGAAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGTGCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATTTTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTAAGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCCCCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAATTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGGTCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTAGCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATACAATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGTTGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCCTCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTCAGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCTATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAAAGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGGGTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAGGTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTCAATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGACAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCATGTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCATCCGAAGCAGAGCTGATTTTTTTTTCTTTGCAGTCATTCTTTGAAGTCTGTAGAGACTTCAGCCCTCCCCTTGAGGCTCCCTGAAGAAACTAAACCAATTGATTTAATAGTTGCTTAGTGCCTTTATCCTGTACCCACAGTGAACTGTAGAAAGTGCCTCCTTAACACAGCTGAGAAGTTAGGTAGCAAAAGTGGGGAAGGGTTGGGGCACAGACCTTTTGCTTTTTCTTTTTCCATTCTCGCTCTCTC
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Task1_train_16976
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Consider this mutation in KCNA5 (potassium voltage-gated channel subfamily A member 5) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Atrial fibrillation, familial, 7
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CCTTCACATATAAACTCTTAAAAAGCCATATGCACACATACTTCTCAAACCTTGACCCAAGTTTGTGTGTCTATGCGCTGCTATTGCAACACACACTTGTGCACCCAGGACCAAGTTTCCAAATCACACCCTTTGGATAGAGACATTCATTGACAAGAGGTCCTAACTTCACGCATATAAATCTGAAGCAATATGCAGAAACAAAAATAGACAATGAAAACAGACATTCAAAAACACAGCCACTTTATGATAATTTAAAACCAAGAAACTTCTGGAGACTGTGTCTGGCAGTTCCAGACACACACCTTGAAACAGATTCCTCTTGGTTACCAATGCCTGCTAAAACCCTGCAGGGGTTGAGACAGGGCAGGGGAAGATTTCCTAGTGTCCCAACCTAGAAAGATTAATATGTTATATCAGCCATCATCCTGCCTTCTGCAGCAGGGAACTAAAGTTCTCAGGCCAGATGTTGGAGTGAGGGAGTGCTTGTATCAGGAAAAGGGATTATGCATTTCTATAGAGGAGTGAAATATAGGGGACAAGGGCCAAACTCTGATTGTTTGAGTTTGAGTTCCAGCATCATCAGTTTCCACCTGCATAAGCCTGGGTGAGTCTGTCAATCTCTCTGTGCCTCAGTTTCTTCATTTATAAAATGGTGATGATAATAGTACTTACAAAATAGGTTGCTGTAGGAATACACAGAGACAATATTTGTAAAGTGCTGAGAGTGGGCTGGTGCATAATGAGAGCCAAGTAAGTATTGGTTGTTATTATTCCATTCTTGGGAATGCTCCAGCCTTGGAGATTGGACAACCTCCCTGGCTCCCTCTCATAAGCCACCTCCACCCTCAGTCTCCTTCATGGACCTAGATGCAGTTGCTCGGTCCAAGATTCACCAGGCAGGATTAGCCCTCACCAGGATTGTAAAAATCGCTTCTCCCCTTCCCTGCTGTGGTTTTTGCAAATGGGATTCGTTGGAGCGGGTGGAGGGGTTCTGCTGGGTTGAGACCAGACAGCTCATCTCCTGACTAGGCTGCTTGCCTGGGCTGCCACCAGGTCTGTACTGGAAACAGGCTAGGGCATGGGAATCCTGCAGGGTTCCAACCCCCTTGTACATTTTTGTGGATCTGTAGGAAGACGGGAAGAGAGATGCTTCTCCATTGATACATGTATTTCAAGGTCCGTAACTACGTGGCCCCCCTCCCTTCTGTAATCCTTCCCAAAGAAATACCGTTATTTCTCCAAAATAAAAAGGACTGGTGTCTCCCGTCTCTGTCTCTCATACTCCGACTCAGCTCAAAGCCTCGTCCCTTTAGCCCAAGGCACTTCGTTCCTCCTGGAGTCCACTCGGCTTCCAGCGGGTTCCCAGGTGAACTGAAATCCAGAGCTATTCTCATCTGGTTGCCCTGGGAATTTCAGCGCTGTCGGTACAACCTGTTCCTCCATCCTCCCCACTCCTTCCCTCCCTCCGCTGGGCTGCACCCTTCTCAGCCCCTCCTTTCCCTTGCTAGGGGCCCCAGCTGCGCCCTCCGGGGAGACACCCGCTGCCACGAGACCCGGGAGGGGAAGCGGGAGGAGGGGGAGAGGAGGGGAAGGCGGGGGAGGCGCCGAGGGTGGAGGCCAAGCGCGGCGCAGCCAGAGAGGGGCGGCTGAAGGTTGCATCTGCTGGAAGGAGGCTTTTCGGCTGCTTGGTAACGGGCTGCCAGAAGAGAGAGAGGCAGAGAGCAGGGCAGCGGCTTCTTGACGTCAGGGCCAAGCGAGGGGATCGCGCCAGCAACCCCAGCTCTCCCCAGAGAGGGGCCGGCCGACCGCTGGAGCGGAGCCTGACGCCAGGCGCCCGCGGAGCGTGAGTAGGGGGCGCGGGAGCCGGTCAGCTGGGGCGCAGCATGCCCTCTGCTCCCGCGCCATGGAGATCGCCCTGGTGCCCCTGGAGAACGGCGGTGCCATGACCGTCAGAGGAGGCGATGAGGCCCGGGCAGGCTGCGGCCAGGCCACAGGGGGAGAGCTCCAGTGTCCCCCGACGGCTGGGCTCAGCGATGGGCCCAAGGAGCCGGCGCCAAAGGGGCGCGGCGCGCAGAGAGACGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCAGAGGAGCTGCCACGGCCTCGACGGCCGCCTCCCGAGGACGAGGAGGAAGAAGGCGATCCCGGCCTGGGCACGGTGGAGGACCAGGCTCTGGGCACGGCGTCCCTGCACCACCAGCGCGTCCACATCAACATCTCCGGGCTGCGCTTTGAGACGCAGCTGGGCACCCTGGCGCAGTTCCCCAACACACTCCTGGGGGACCCCGCCAAGCGCCTGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGGTATCCTCTACTACTACCAGTCCGGGGGCCGCCTGCGGAGGCCGGTCAACGTCTCCCTGGACGTGTTCGCGGACGAGATACGCTTCTACCAGCTGGGGGACGAGGCCATGGAGCGCTTCCGCGAGGATGAGGGCTTCATTAAAGAAGAGGAGAAGCCCCTGCCCCGCAACGAGTTCCAGCGCCAGGTGTGGCTTATCTTCGAGTATCCGGAGAGCTCTGGGTCCGCGCGGGCCATCGCCATCGTCTCGGTCTTGGTTATCCTCATCTCCATCATCACCTTCTGCTTGGAGACCCTGCCTGAGTTCAGGGATGAACGTGAGCTGCTCCGCCACCCTCCGGCGCCCCACCAGCCTCCCGCGCCCGCCCCTGGGGCCAACGGCAGCGGGGTCATGGCCCCGCCCTCTGGCCCTACGGTGGCACCGCTCCTGCCCAGGACCCTGGCCGACCCCTTCTTCATCGTGGAGACCACGTGCGTCATCTGGTTCACCTTCGAGCTGCTCGTGCGCTTCTTCGCCTGCCCCAGCAAGGCAGGGTTCTCCCGGAACATCATGAACATCATCGATGTGGTGGCCATCTTCCCCTACTTCATCACCCTGGGCACCGAACTGGCAGAGCAGCAGCCAGGGGGTGGAGGAGGCGGCCAGAATGGGCAGCAGGCCATGTCCCTGGCCATCCTCCGAGTCATCCGCCTGGTCCGGGTGTTCCGCATCTTCAAGCTCTCCCGCCACTCCAAGGGGCTGCAGATCCTGGGCAAGACCTTGCAGGCCTCCATGAGGGAGCTGGGGCTGCTCATCTTCTTCCTCTTCATCGGGGTCATCCTCTTCTCCAGTGCCGTCTACTTCGCAGAGGCTGACAACCAGGGAACCCATTTCTCTAGCATCCCTGACGCCTTCTGGTGGGCAGTGGTCACCATGACCACTGTGGGCTACGGGGACATGAGGCCCATCACTGTTGGGGGCAAGATCGTGGGCTCGCTGTGTGCCATCGCCGGGGTCCTCACCATTGCCCTGCCTGTGCCCGTCATCGTCTCCAACTTCAACTACTTCTACCACCGGGAAACGGATCACGAGGAGCCGGCAGTCCTTAAGGAAGAGCAGGGCACTCAGAGCCAGGGGCCGGGGCTGGACAGAGGAGTCCAGCGGAAGGTCAGCGGGAGCAGGGGATCCTTCTGCAAGGCTGGGGGGACCCTGGAGAATGCAGACAGTGCCCGAAGGGGCAGCTGCCCCCTAGAGAAGTGTAACGTCAAGGCCAAGAGCAACGTGGACTTGCGGAGGTCCCTTTATGCCCTCTGCCTGGACACCAGCCGGGAAACAGATTTGTGAAAGGAGATTCAGGCAGACTGGTGGCAGTGGAGTAGGGAATGGGAGGCTTGCTGAACATGGATATCTACATTATACCGCAGAGTATTTGAAGTCACACTGTAACCTCAGTCTACCCCTCTCCTTTCACTCCTTTCCTCCCTCCCTCGATCCCCCCATTTTCTCTATTCTTTCCATGACACCCAAGGGTCGCCTATTTTTAAAAAGTACCACATTCCATGACGCAGGAGCTGTGGAAATGGTGAGCGCTGTGAGATGGATGTATTTGTAGCCAGTCTCCTATACCCAGCAGAGGGATAACCCAAACAAAAATGACTCTAAATAGCCCAGATCCCAAGAGATTATGTAACT
|
CCTTCACATATAAACTCTTAAAAAGCCATATGCACACATACTTCTCAAACCTTGACCCAAGTTTGTGTGTCTATGCGCTGCTATTGCAACACACACTTGTGCACCCAGGACCAAGTTTCCAAATCACACCCTTTGGATAGAGACATTCATTGACAAGAGGTCCTAACTTCACGCATATAAATCTGAAGCAATATGCAGAAACAAAAATAGACAATGAAAACAGACATTCAAAAACACAGCCACTTTATGATAATTTAAAACCAAGAAACTTCTGGAGACTGTGTCTGGCAGTTCCAGACACACACCTTGAAACAGATTCCTCTTGGTTACCAATGCCTGCTAAAACCCTGCAGGGGTTGAGACAGGGCAGGGGAAGATTTCCTAGTGTCCCAACCTAGAAAGATTAATATGTTATATCAGCCATCATCCTGCCTTCTGCAGCAGGGAACTAAAGTTCTCAGGCCAGATGTTGGAGTGAGGGAGTGCTTGTATCAGGAAAAGGGATTATGCATTTCTATAGAGGAGTGAAATATAGGGGACAAGGGCCAAACTCTGATTGTTTGAGTTTGAGTTCCAGCATCATCAGTTTCCACCTGCATAAGCCTGGGTGAGTCTGTCAATCTCTCTGTGCCTCAGTTTCTTCATTTATAAAATGGTGATGATAATAGTACTTACAAAATAGGTTGCTGTAGGAATACACAGAGACAATATTTGTAAAGTGCTGAGAGTGGGCTGGTGCATAATGAGAGCCAAGTAAGTATTGGTTGTTATTATTCCATTCTTGGGAATGCTCCAGCCTTGGAGATTGGACAACCTCCCTGGCTCCCTCTCATAAGCCACCTCCACCCTCAGTCTCCTTCATGGACCTAGATGCAGTTGCTCGGTCCAAGATTCACCAGGCAGGATTAGCCCTCACCAGGATTGTAAAAATCGCTTCTCCCCTTCCCTGCTGTGGTTTTTGCAAATGGGATTCGTTGGAGCGGGTGGAGGGGTTCTGCTGGGTTGAGACCAGACAGCTCATCTCCTGACTAGGCTGCTTGCCTGGGCTGCCACCAGGTCTGTACTGGAAACAGGCTAGGGCATGGGAATCCTGCAGGGTTCCAACCCCCTTGTACATTTTTGTGGATCTGTAGGAAGACGGGAAGAGAGATGCTTCTCCATTGATACATGTATTTCAAGGTCCGTAACTACGTGGCCCCCCTCCCTTCTGTAATCCTTCCCAAAGAAATACCGTTATTTCTCCAAAATAAAAAGGACTGGTGTCTCCCGTCTCTGTCTCTCATACTCCGACTCAGCTCAAAGCCTCGTCCCTTTAGCCCAAGGCACTTCGTTCCTCCTGGAGTCCACTCGGCTTCCAGCGGGTTCCCAGGTGAACTGAAATCCAGAGCTATTCTCATCTGGTTGCCCTGGGAATTTCAGCGCTGTCGGTACAACCTGTTCCTCCATCCTCCCCACTCCTTCCCTCCCTCCGCTGGGCTGCACCCTTCTCAGCCCCTCCTTTCCCTTGCTAGGGGCCCCAGCTGCGCCCTCCGGGGAGACACCCGCTGCCACGAGACCCGGGAGGGGAAGCGGGAGGAGGGGGAGAGGAGGGGAAGGCGGGGGAGGCGCCGAGGGTGGAGGCCAAGCGCGGCGCAGCCAGAGAGGGGCGGCTGAAGGTTGCATCTGCTGGAAGGAGGCTTTTCGGCTGCTTGGTAACGGGCTGCCAGAAGAGAGAGAGGCAGAGAGCAGGGCAGCGGCTTCTTGACGTCAGGGCCAAGCGAGGGGATCGCGCCAGCAACCCCAGCTCTCCCCAGAGAGGGGCCGGCCGACCGCTGGAGCGGAGCCTGACGCCAGGCGCCCGCGGAGCGTGAGTAGGGGGCGCGGGAGCCGGTCAGCTGGGGCGCAGCATGCCCTCTGCTCCCGCGCCATGGAGATCGCCCTGGTGCCCCTGGAGAACGGCGGTGCCATGACCGTCAGAGGAGGCGATGAGGCCCGGGCAGGCTGCGGCCAGGCCACAGGGGGAGAGCTCCAGTGTCCCCCGACGGCTGGGCTCAGCGATGGGCCCAAGGGGCCGGCGCCAAAGGGGCGCGGCGCGCAGAGAGACGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCAGAGGAGCTGCCACGGCCTCGACGGCCGCCTCCCGAGGACGAGGAGGAAGAAGGCGATCCCGGCCTGGGCACGGTGGAGGACCAGGCTCTGGGCACGGCGTCCCTGCACCACCAGCGCGTCCACATCAACATCTCCGGGCTGCGCTTTGAGACGCAGCTGGGCACCCTGGCGCAGTTCCCCAACACACTCCTGGGGGACCCCGCCAAGCGCCTGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGGTATCCTCTACTACTACCAGTCCGGGGGCCGCCTGCGGAGGCCGGTCAACGTCTCCCTGGACGTGTTCGCGGACGAGATACGCTTCTACCAGCTGGGGGACGAGGCCATGGAGCGCTTCCGCGAGGATGAGGGCTTCATTAAAGAAGAGGAGAAGCCCCTGCCCCGCAACGAGTTCCAGCGCCAGGTGTGGCTTATCTTCGAGTATCCGGAGAGCTCTGGGTCCGCGCGGGCCATCGCCATCGTCTCGGTCTTGGTTATCCTCATCTCCATCATCACCTTCTGCTTGGAGACCCTGCCTGAGTTCAGGGATGAACGTGAGCTGCTCCGCCACCCTCCGGCGCCCCACCAGCCTCCCGCGCCCGCCCCTGGGGCCAACGGCAGCGGGGTCATGGCCCCGCCCTCTGGCCCTACGGTGGCACCGCTCCTGCCCAGGACCCTGGCCGACCCCTTCTTCATCGTGGAGACCACGTGCGTCATCTGGTTCACCTTCGAGCTGCTCGTGCGCTTCTTCGCCTGCCCCAGCAAGGCAGGGTTCTCCCGGAACATCATGAACATCATCGATGTGGTGGCCATCTTCCCCTACTTCATCACCCTGGGCACCGAACTGGCAGAGCAGCAGCCAGGGGGTGGAGGAGGCGGCCAGAATGGGCAGCAGGCCATGTCCCTGGCCATCCTCCGAGTCATCCGCCTGGTCCGGGTGTTCCGCATCTTCAAGCTCTCCCGCCACTCCAAGGGGCTGCAGATCCTGGGCAAGACCTTGCAGGCCTCCATGAGGGAGCTGGGGCTGCTCATCTTCTTCCTCTTCATCGGGGTCATCCTCTTCTCCAGTGCCGTCTACTTCGCAGAGGCTGACAACCAGGGAACCCATTTCTCTAGCATCCCTGACGCCTTCTGGTGGGCAGTGGTCACCATGACCACTGTGGGCTACGGGGACATGAGGCCCATCACTGTTGGGGGCAAGATCGTGGGCTCGCTGTGTGCCATCGCCGGGGTCCTCACCATTGCCCTGCCTGTGCCCGTCATCGTCTCCAACTTCAACTACTTCTACCACCGGGAAACGGATCACGAGGAGCCGGCAGTCCTTAAGGAAGAGCAGGGCACTCAGAGCCAGGGGCCGGGGCTGGACAGAGGAGTCCAGCGGAAGGTCAGCGGGAGCAGGGGATCCTTCTGCAAGGCTGGGGGGACCCTGGAGAATGCAGACAGTGCCCGAAGGGGCAGCTGCCCCCTAGAGAAGTGTAACGTCAAGGCCAAGAGCAACGTGGACTTGCGGAGGTCCCTTTATGCCCTCTGCCTGGACACCAGCCGGGAAACAGATTTGTGAAAGGAGATTCAGGCAGACTGGTGGCAGTGGAGTAGGGAATGGGAGGCTTGCTGAACATGGATATCTACATTATACCGCAGAGTATTTGAAGTCACACTGTAACCTCAGTCTACCCCTCTCCTTTCACTCCTTTCCTCCCTCCCTCGATCCCCCCATTTTCTCTATTCTTTCCATGACACCCAAGGGTCGCCTATTTTTAAAAAGTACCACATTCCATGACGCAGGAGCTGTGGAAATGGTGAGCGCTGTGAGATGGATGTATTTGTAGCCAGTCTCCTATACCCAGCAGAGGGATAACCCAAACAAAAATGACTCTAAATAGCCCAGATCCCAAGAGATTATGTAACT
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Task1_train_16977
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The gene KCNA5 (potassium voltage-gated channel subfamily A member 5) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Atrial fibrillation, familial, 7
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TGCTTGGTAACGGGCTGCCAGAAGAGAGAGAGGCAGAGAGCAGGGCAGCGGCTTCTTGACGTCAGGGCCAAGCGAGGGGATCGCGCCAGCAACCCCAGCTCTCCCCAGAGAGGGGCCGGCCGACCGCTGGAGCGGAGCCTGACGCCAGGCGCCCGCGGAGCGTGAGTAGGGGGCGCGGGAGCCGGTCAGCTGGGGCGCAGCATGCCCTCTGCTCCCGCGCCATGGAGATCGCCCTGGTGCCCCTGGAGAACGGCGGTGCCATGACCGTCAGAGGAGGCGATGAGGCCCGGGCAGGCTGCGGCCAGGCCACAGGGGGAGAGCTCCAGTGTCCCCCGACGGCTGGGCTCAGCGATGGGCCCAAGGAGCCGGCGCCAAAGGGGCGCGGCGCGCAGAGAGACGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCAGAGGAGCTGCCACGGCCTCGACGGCCGCCTCCCGAGGACGAGGAGGAAGAAGGCGATCCCGGCCTGGGCACGGTGGAGGACCAGGCTCTGGGCACGGCGTCCCTGCACCACCAGCGCGTCCACATCAACATCTCCGGGCTGCGCTTTGAGACGCAGCTGGGCACCCTGGCGCAGTTCCCCAACACACTCCTGGGGGACCCCGCCAAGCGCCTGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGGTATCCTCTACTACTACCAGTCCGGGGGCCGCCTGCGGAGGCCGGTCAACGTCTCCCTGGACGTGTTCGCGGACGAGATACGCTTCTACCAGCTGGGGGACGAGGCCATGGAGCGCTTCCGCGAGGATGAGGGCTTCATTAAAGAAGAGGAGAAGCCCCTGCCCCGCAACGAGTTCCAGCGCCAGGTGTGGCTTATCTTCGAGTATCCGGAGAGCTCTGGGTCCGCGCGGGCCATCGCCATCGTCTCGGTCTTGGTTATCCTCATCTCCATCATCACCTTCTGCTTGGAGACCCTGCCTGAGTTCAGGGATGAACGTGAGCTGCTCCGCCACCCTCCGGCGCCCCACCAGCCTCCCGCGCCCGCCCCTGGGGCCAACGGCAGCGGGGTCATGGCCCCGCCCTCTGGCCCTACGGTGGCACCGCTCCTGCCCAGGACCCTGGCCGACCCCTTCTTCATCGTGGAGACCACGTGCGTCATCTGGTTCACCTTCGAGCTGCTCGTGCGCTTCTTCGCCTGCCCCAGCAAGGCAGGGTTCTCCCGGAACATCATGAACATCATCGATGTGGTGGCCATCTTCCCCTACTTCATCACCCTGGGCACCGAACTGGCAGAGCAGCAGCCAGGGGGTGGAGGAGGCGGCCAGAATGGGCAGCAGGCCATGTCCCTGGCCATCCTCCGAGTCATCCGCCTGGTCCGGGTGTTCCGCATCTTCAAGCTCTCCCGCCACTCCAAGGGGCTGCAGATCCTGGGCAAGACCTTGCAGGCCTCCATGAGGGAGCTGGGGCTGCTCATCTTCTTCCTCTTCATCGGGGTCATCCTCTTCTCCAGTGCCGTCTACTTCGCAGAGGCTGACAACCAGGGAACCCATTTCTCTAGCATCCCTGACGCCTTCTGGTGGGCAGTGGTCACCATGACCACTGTGGGCTACGGGGACATGAGGCCCATCACTGTTGGGGGCAAGATCGTGGGCTCGCTGTGTGCCATCGCCGGGGTCCTCACCATTGCCCTGCCTGTGCCCGTCATCGTCTCCAACTTCAACTACTTCTACCACCGGGAAACGGATCACGAGGAGCCGGCAGTCCTTAAGGAAGAGCAGGGCACTCAGAGCCAGGGGCCGGGGCTGGACAGAGGAGTCCAGCGGAAGGTCAGCGGGAGCAGGGGATCCTTCTGCAAGGCTGGGGGGACCCTGGAGAATGCAGACAGTGCCCGAAGGGGCAGCTGCCCCCTAGAGAAGTGTAACGTCAAGGCCAAGAGCAACGTGGACTTGCGGAGGTCCCTTTATGCCCTCTGCCTGGACACCAGCCGGGAAACAGATTTGTGAAAGGAGATTCAGGCAGACTGGTGGCAGTGGAGTAGGGAATGGGAGGCTTGCTGAACATGGATATCTACATTATACCGCAGAGTATTTGAAGTCACACTGTAACCTCAGTCTACCCCTCTCCTTTCACTCCTTTCCTCCCTCCCTCGATCCCCCCATTTTCTCTATTCTTTCCATGACACCCAAGGGTCGCCTATTTTTAAAAAGTACCACATTCCATGACGCAGGAGCTGTGGAAATGGTGAGCGCTGTGAGATGGATGTATTTGTAGCCAGTCTCCTATACCCAGCAGAGGGATAACCCAAACAAAAATGACTCTAAATAGCCCAGATCCCAAGAGATTATGTAACTCCTCCATCCATGTGTTCCAAATTTGCTTTACATATGATTGTATTTGTGTATAGGGGAAAATATTATTTTTATGCCTGGTAAGTGGCTTTTTGTACTGTAGTTCAGATAGAGATATTTTGGGTATATTTTCAAGATACATGTTGTATTTATGGAAGAAAGAGTTGTCCTGATGTTTTTCTGTGTTACTTATATTAGAGTCAGAGATCTTGGTATGGGCTGTTCTGTTTCCTGTGTCTCCAAGCCTCTGTCTTTTCTGGGATGTGGTATTGGTGCTTTGTGTCTAGGGCAGAGTATGTTCTTGAAGAAAGGCAAATCTGACTTTTTCTGTGCGCCTTAAACAATTCTTGTAACTTTCTTCAAAAAGCATTTTAATGATATTGGAGGAATACTTCTGATAATTTATTGTCTTTATTTTTATCCCAGGAAATAAAAGGTTACCTTGTTGAGGCAAGTGTTAGTTTTTCTGCAGCTGATACATTTTCTGAAATTTTTAAAAATAGTCTGTCACTGGCTGTTTCTGGTTTTGACATCAGAGCAAACGCATTGACTGGGGTTAGAGGAAATCTGAAAAGCTCATGATTTGCTTGGCGACGTCTTTTCAGTGCACCCCTTGGTGCCTCATAGACAATGGTGGGTGAATTTTGTCCAGGCTGTTTATGGCACGGACGCCCCTGTGAGATGCTCTCTGAAGCAGTAGTATCAGCCCTTATGGTCAGCCTGGAGTAGGGAGGGCACTTAAAGGAAAAAGGGGATCAGACCCCTGACAGTCTTATTGGGTCTCCCGGCACTGGCTTTCATTCCTTTGTTTGCAGGTTTTCAGCCCTCCTCAGGGTGGCTCTCAGCAGCTCTGAGAAAAGCAAGCCTGATTCTCACAGACATGAAGCAGTCCTGGCAGCCCCAGTGTGCGAGTCACAGAGGGACCTGCACCGGTTGTTCACTGCCCTCTTGGCATGGCAGAGGAGCACGTAATGTCTTTATGGCAACAGCAACAGTGAGAGGCCAAATGGAAGGATTTGCTTGTTCACATTAAGAGCTGTTTTCTGCAGATTGTGGCCTTGCCCCCAAGTAATCCCTAAACTCAGAACAAATCTCCTTGTTCCCTTGTCACTGGAAGGCTGCGGCAAAACATTGCAGTTGGCATAACACTAGCTAGCATTTCTCTCTGGGATTAGCTATCTGCTGATAGGAATCCGGAGCCCCACGGATTCCTGCTGTTGCTTTTTCTGCTGAATGATCCAAAGCTGGGGCTGTTTTACATCCTCACCAGGGTGGGCTGGTGGGCTGGAATCACACCTCCCCCAGGACAACAGTGGGCTTCACGGCTAGTTCTCAGGGTGTGGTCAGGTCTCCCTGTGGGTGAGAGGAGATCTATAAGTCAATGCCTGGGAATTGTGGGTTTAAATAAAATGGCCAGCACGGTAAGGAAAGCCGGGGTCTGCGAGTGCCCAAAGTCATTTCTAGCCAGAAGCTTTTAACACCAAATCTGAGGAGGAAACAGAAGGATTGTGCAGACAGGGCTCTGTTGATTTTCATTGCATGCTAAGGCAAAGGAAGAAGAACAGAGACACTTTATTTATTTATAATTTACAATCTGCCTAAAAGCAGGGCATCTTGCCAGAGCTCAACTGTACACGGTCTCACCTCCAAGCCCTCTCTGCCTTTAAAGCTAATGTTTGCAGTTTAGC
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TGCTTGGTAACGGGCTGCCAGAAGAGAGAGAGGCAGAGAGCAGGGCAGCGGCTTCTTGACGTCAGGGCCAAGCGAGGGGATCGCGCCAGCAACCCCAGCTCTCCCCAGAGAGGGGCCGGCCGACCGCTGGAGCGGAGCCTGACGCCAGGCGCCCGCGGAGCGTGAGTAGGGGGCGCGGGAGCCGGTCAGCTGGGGCGCAGCATGCCCTCTGCTCCCGCGCCATGGAGATCGCCCTGGTGCCCCTGGAGAACGGCGGTGCCATGACCGTCAGAGGAGGCGATGAGGCCCGGGCAGGCTGCGGCCAGGCCACAGGGGGAGAGCTCCAGTGTCCCCCGACGGCTGGGCTCAGCGATGGGCCCAAGGAGCCGGCGCCAAAGGGGCGCGGCGCGCAGAGAGACGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCAGAGGAGCTGCCACGGCCTCGACGGCCGCCTCCCGAGGACGAGGAGGAAGAAGGCGATCCCGGCCTGGGCACGGTGGAGGACCAGGCTCTGGGCACGGCGTCCCTGCACCACCAGCGCGTCCACATCAACATCTCCGGGCTGCGCTTTGAGACGCAGCTGGGCACCCTGGCGCAGTTCCCCAACACACTCCTGGGGGACCCCGCCAAGCGCCTGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCGACGGTATCCTCTACTACTACCAGTCCGGGGGCCGCCTGCGGAGGCCGGTCAACGTCTCCCTGGACGTGTTCGCGGACGAGATACGCTTCTACCAGCTGGGGGACGAGGCCATGGAGCGCTTCCGCGAGGATGAGGGCTTCATTAAAGAAGAGGAGAAGCCCCTGCCCCGCAACGAGTTCCAGCGCCAGGTGTGGCTTATCTTCGAGTATCCGGAGAGCTCTGGGTCCGCGCGGGCCATCGCCATCGTCTCGGTCTTGGTTATCCTCATCTCCATCATCACCTTCTGCTTGGAGACCCTGCCTGAGTTCAGGGATGAACGTGAGCTGCTCCGCCACCCTCCGGCGCCCCACCAGCCTCCCGCGCCCGCCCCTGGGGCCAACGGCAGCGGGGTCATGGCCCCGCCCTCTGGCCCTACGGTGGCACCGCTCCTGCCCAGGACCCTGGCCGACCCCTTCTTCATCGTGGAGACCACGTGCGTCATCTGGTTCACCTTCGAGCTGCTCGTGCGCTTCTTCGCCTGCCCCAGCAAGGCAGGGTTCTCCCGGAACATCATGAACATCATCGATGTGGTGGCCATCTTCCCCTACTTCATCACCCTGGGCACCGAACTGGCAGAGCAGCAGCCAGGGGGTGGAGGAGGCGGCCAGAATGGGCAGCAGGCCATGTCCCTGGCCATCCTCCGAGTCATCCGCCTGGTCCGGGTGTTCCGCATCTTCAAGCTCTCCCGCCACTCCAAGGGGCTGCAGATCCTGGGCAAGACCTTGCAGGCCTCCATGAGGGAGCTGGGGCTGCTCATCTTCTTCCTCTTCATCGGGGTCATCCTCTTCTCCAGTGCCGTCTACTTCGCAGAGGCTGACAACCAGGGAACCCATTTCTCTAGCATCCCTGACGCCTTCTGGTGGGCAGTGGTCACCATGACCACTGTGGGCTACGGGGACATGAGGCCCATCACTGTTGGGGGCAAGATCGTGGGCTCGCTGTGTGCCATCGCCGGGGTCCTCACCATTGCCCTGCCTGTGCCCGTCATCGTCTCCAACTTCAACTACTTCTACCACCGGGAAACGGATCACGAGGAGCCGGCAGTCCTTAAGGAAGAGCAGGGCACTCAGAGCCAGGGGCCGGGGCTGGACAGAGGAGTCCAGCGGAAGGTCAGCGGGAGCAGGGGATCCTTCTGCAAGGCTGGGGGGACCCTGGAGAATGCAGACAGTGCCCGAAGGGGCAGCTGCCCCCTAGAGAAGTGTAACGTCAAGGCCAAGAGCAACGTGGACTTGCGGAGGTCCCTTTATGCCCTCTGCCTGGACACCAGCCGGAAAACAGATTTGTGAAAGGAGATTCAGGCAGACTGGTGGCAGTGGAGTAGGGAATGGGAGGCTTGCTGAACATGGATATCTACATTATACCGCAGAGTATTTGAAGTCACACTGTAACCTCAGTCTACCCCTCTCCTTTCACTCCTTTCCTCCCTCCCTCGATCCCCCCATTTTCTCTATTCTTTCCATGACACCCAAGGGTCGCCTATTTTTAAAAAGTACCACATTCCATGACGCAGGAGCTGTGGAAATGGTGAGCGCTGTGAGATGGATGTATTTGTAGCCAGTCTCCTATACCCAGCAGAGGGATAACCCAAACAAAAATGACTCTAAATAGCCCAGATCCCAAGAGATTATGTAACTCCTCCATCCATGTGTTCCAAATTTGCTTTACATATGATTGTATTTGTGTATAGGGGAAAATATTATTTTTATGCCTGGTAAGTGGCTTTTTGTACTGTAGTTCAGATAGAGATATTTTGGGTATATTTTCAAGATACATGTTGTATTTATGGAAGAAAGAGTTGTCCTGATGTTTTTCTGTGTTACTTATATTAGAGTCAGAGATCTTGGTATGGGCTGTTCTGTTTCCTGTGTCTCCAAGCCTCTGTCTTTTCTGGGATGTGGTATTGGTGCTTTGTGTCTAGGGCAGAGTATGTTCTTGAAGAAAGGCAAATCTGACTTTTTCTGTGCGCCTTAAACAATTCTTGTAACTTTCTTCAAAAAGCATTTTAATGATATTGGAGGAATACTTCTGATAATTTATTGTCTTTATTTTTATCCCAGGAAATAAAAGGTTACCTTGTTGAGGCAAGTGTTAGTTTTTCTGCAGCTGATACATTTTCTGAAATTTTTAAAAATAGTCTGTCACTGGCTGTTTCTGGTTTTGACATCAGAGCAAACGCATTGACTGGGGTTAGAGGAAATCTGAAAAGCTCATGATTTGCTTGGCGACGTCTTTTCAGTGCACCCCTTGGTGCCTCATAGACAATGGTGGGTGAATTTTGTCCAGGCTGTTTATGGCACGGACGCCCCTGTGAGATGCTCTCTGAAGCAGTAGTATCAGCCCTTATGGTCAGCCTGGAGTAGGGAGGGCACTTAAAGGAAAAAGGGGATCAGACCCCTGACAGTCTTATTGGGTCTCCCGGCACTGGCTTTCATTCCTTTGTTTGCAGGTTTTCAGCCCTCCTCAGGGTGGCTCTCAGCAGCTCTGAGAAAAGCAAGCCTGATTCTCACAGACATGAAGCAGTCCTGGCAGCCCCAGTGTGCGAGTCACAGAGGGACCTGCACCGGTTGTTCACTGCCCTCTTGGCATGGCAGAGGAGCACGTAATGTCTTTATGGCAACAGCAACAGTGAGAGGCCAAATGGAAGGATTTGCTTGTTCACATTAAGAGCTGTTTTCTGCAGATTGTGGCCTTGCCCCCAAGTAATCCCTAAACTCAGAACAAATCTCCTTGTTCCCTTGTCACTGGAAGGCTGCGGCAAAACATTGCAGTTGGCATAACACTAGCTAGCATTTCTCTCTGGGATTAGCTATCTGCTGATAGGAATCCGGAGCCCCACGGATTCCTGCTGTTGCTTTTTCTGCTGAATGATCCAAAGCTGGGGCTGTTTTACATCCTCACCAGGGTGGGCTGGTGGGCTGGAATCACACCTCCCCCAGGACAACAGTGGGCTTCACGGCTAGTTCTCAGGGTGTGGTCAGGTCTCCCTGTGGGTGAGAGGAGATCTATAAGTCAATGCCTGGGAATTGTGGGTTTAAATAAAATGGCCAGCACGGTAAGGAAAGCCGGGGTCTGCGAGTGCCCAAAGTCATTTCTAGCCAGAAGCTTTTAACACCAAATCTGAGGAGGAAACAGAAGGATTGTGCAGACAGGGCTCTGTTGATTTTCATTGCATGCTAAGGCAAAGGAAGAAGAACAGAGACACTTTATTTATTTATAATTTACAATCTGCCTAAAAGCAGGGCATCTTGCCAGAGCTCAACTGTACACGGTCTCACCTCCAAGCCCTCTCTGCCTTTAAAGCTAATGTTTGCAGTTTAGC
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Task1_train_16978
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This alteration occurs within gene VWF (von Willebrand factor) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
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Pathogenic; Von Willebrand disease type 2A
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CCTAGCCTTCCTGCTGAATTTCTCCAGAGCTGATGCCTCCAATAACACCTTGTCCCCAGCTAGAGTGTTAGGCGATCAGTCAGAAGAGTGACAGTTAATTCCCTGTCCCTGGATCTGGTTTCCTACCAAGAGAGACCTTAGAGGCTACCCAAAGTTGGGAGTGGGGTGATGGATGGAGAGACAGTAACCTTTGAATTACTGAGTAGTTACATAAAACTTCTATCCATTCTTCCTTCCTTCTGCCCCACTAAACTCCCCACCAAGCCTACTCAGCATAATCTATGCCATTTTCCTGTAATGTGGCTTCTCTTAAGGTTAAGCTCAGGCAGTAACAGAAGTGGTGGGAACTTAAGGGTGCAGCAGTCACTGGTCCCCATGTCAGCACGGGAGGAGTGTAAGCAACAGGGATGGTGTGGCTCTGATGGGGTGGCCTGGGAGTTCTTATGCAGGTGTCAAGTCACCTGGGTTCTGAACCTGGCCCTGCCACCCAGCAGTTATGACCTTTGGCAAGTCACTTGAATTCTCTGAGCTGCTTTCATCACTTGTAAAGGAGTGGAGGAGGGACAGTGGACTAGATGATGTCTAAGTCCCTTTTGATTCCATTATCCAGTACTTTCAATGAGCTGAGTCTCTCCTGTGTCAAAAGTATTTGGAATGAAAATCAATTCTTCATCAAATTCTTGTAATCCAGGACATCCCCTTCTTTCTCATGGGTATTCTCCCCAGCAAGAGTCCCCACCATCTTGCCAGCATGTACATGAAAATTCTTCCATACATTTTAAGGAAGGACCATCTCTAACTGCAAGTGACAGTACCAGTTAGTGATTTGGGGACTGGATGATGTTTGGTGTTATCTACACCACTTCCTCTTCCACTGAAGGATGTCTGGAGTATGTAGGACCTTGGCATCAAGCATAAAGCCTGATAGAAACCCAGCCGGTCCAGCCCTCACCACAAAGGAAATCTCTAATGCTCTGCTGTTAACATTAGAGTCTCTTATTCCCTACCGAAAGCCTTGATCTCCCCATTGTTATTCTCGCCACTTCTTACATGATTACAGAGCAATTTACAGTTACCTAAGGACTTGCAGGCCCTATTTTAGGCTGAGGTTGTTTATCCTTACCACCTTATGAGTGAGAACAACACTCCTGTTTTCCAGATGAGGAAACTGAGTCTGAGAACCACCAAGGGGCTTGTTTGAGGCCACACAGCTGAGCGAGGGCCATGTGTGGAGCCCAGGTCTGCCTCCAAATCTGGGGCTCATGGCCTCAGGCTGAGTTGGGTGACCACACTACTGCACCTGCCAGCACCCTGTTTCCAGGTCCCCATCAGTCGTCAGCACCTCTCCCTCCCACAGGGGCCACTATGGGTACACAGGAACCCTGTGAGCCACGGGCTCAGAGAAATCCTTGCACACCTGGTCAGACACCTTCTCCACACTGCCAGCCATGTGACAACAATAGTATCTATCTCAGCAGGAGCCTGGCTCCAGGACCCACCCCTCTGCTATGTTCAGAAGCCCCTCCATTCAGAGACTGGAGAATCCAGTGTTGCTGGGAAAATCCCTTTTACTTTGTGCTGAGTTTCAGAAGAGGCCTACCCCATGCTATGCCTTTCCCACCCCTGGAGGCAAAGACATCACTCTTCCCCAGAAGTTGGCAGTATCTCACACTGACACTGAGGCTTGCAGATGGGGCCTGTGCTTCCTTCCTCAGAACCGGTCTCAGAACTCAGCCCCTGCCCACCGTTGCCATCTCAGCCCTACGACACAGTGCACCAGCAGCCTTTTGCAAGATAAGAGCTCAGCCTTTATTGTGGGCTCAGAAGGGCACAAGAGCAGAACATGCAGAGGACTGGCAGCACTCTGGCCTGGCCATCAGGCCAAGGCAGGCAGCAGCAGGCACCCATGCAGCTGCAGCAGCCTCACTTGCTGCACTTCCTGGGGGAGCATTTGCACTCCATGGCATTGAGAACCTCATGGTACACAACAGAGCCATTGGTGCAGTGCAGGGCCACCTGCATGGGCTCCGTCCGTGTCGGAGAGCAGCAGGAGCACTGGTCCTGCACATCGTTGATGTCAATGGAGTACATGGCTTTGCTGGCACATTTGCCCTGCAAGAAAGCAGAGGAAGATGGGAGCTTCACAATGGTGGGAAGTCCTGGCTTAGGCAGGGCTCTGGGGCAGCCTGCTTTCTCCCTGACCCCCTCCAAGCAAGGCAGGTCTGATCTCACCCAGAAGCACCCAGGACAGCTAGGCAATTTGTAAAGGAAGATCATAGGTCTGACATGTCCTCTTCTCTATGGTAATAATATCATACCCACACCCCTCTAGCTGCAATTTTTATGCATGTTAATGCATAAAATGTTTTATGCCTGATTATGCATGTTTTATGCAGGAAAATTTTATATATGTTTGACTGATCTTCAAGAATTGTGGCCCCCATCTTGCATAAATAACTCTCCATTTTCTGTAAAGGATTTGCTGAGTCTTTCCTCCATTTTTGTTTTTTTCCTGGAGTCAAAAATTTCCAGTTACTTCAATAAAACATTTGCTTAAAAAAAAATGCTTCCAGTTTATTTCCCTTCTCTTCCCTGCGAATTTTCCAGATCCTTCTAGAATGTAACTAAGGATAGGTATCCGAACACGGAGGCTCAGCCCTCCACACCCAGCCCTTATTGAAGCAGAGCCCTTACCTGGCAGTAGTGGATATCCACCTCTACTTCAGACTTACAGCTTCCCACCTTGACATACTGCAGCCTGGCAGTGATGTCGTTGCACTCAGGCTCCTCACCTACAGGACAGGTGAGAGATGAAACTTGAGGACTGGCTGGGGTTCTAGAGAACACTCTTCAGCCCCAGTGCCCTCACTGGGCTGGAAATAGGTCCCTTTCACAGTAACCAAATAAAGCCAGCCACAGGGAGGGAATTCAGTTATCCTGGTTCACCTCAGCTGTTCCTGGCCCGAAATATGCAGAGATATAGTTATTGCTGGACTTAACTCACTTAATGGTACAATTTTAATTGCAGGAAGAGCCTAAATTCACTGTGCTATGGTGATGTAAAATGAGGAAGACTTGCCTTTGTATCATTGTAGACTCTAAAAACCACATGGCTAAAGCAACCCTCTTGTGCTTGTAACTACATTCAGAAGCTAATGGGCAATGAAGTAGTCAATAAGTATAATTACTATCTCTTCATTCCTGCCTTGGGGTAAGAGGAAAGGCGAAGTCATGGTGATGTAAGGGCATACCCTGCCTCTCTGGGGACCGAGAAGATCCCTAGGCACCTTTGTGAAGGCCTCTCTTCGGGTACTGCTGACTCCAGGTTGCTGACATGGGGGTTTCCTTTCACACAGGGGTTAGTGGCATTCAGATCTGAATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTTGTGGTGGTTTTGTAGGTAACAGTCTCCTAATCAAATTCCACGTGCAGTGTGCCTAGAGAGAATTCTTCTTCTCTGATGGTTTCCTGACTTCACATTCTTAAACCATTCAAATGGGAATCATAGAAAGACATGCTTTCAGAGTGCTTCCTCGATCTGAGATTTGGTTACAGCAATTGCAGGGGCTGTCAAGAATGAATGATTGAACACTGAAAGTATTCATGTTTTCACTCTTCCTTTCTCTATCTGTAAACAAGCATGGACCTGTGAACCCAGGGCAGAAAAGAAATACCCTAATCTAAAACAAAAAATCTTAGTCCAGGCAAGTAATTCTATATTCAGAAATTATGGCATTAGCATTGGGATCCTGAAAGTTATTTGTGCTCACAAACACAAGCAT
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CCTAGCCTTCCTGCTGAATTTCTCCAGAGCTGATGCCTCCAATAACACCTTGTCCCCAGCTAGAGTGTTAGGCGATCAGTCAGAAGAGTGACAGTTAATTCCCTGTCCCTGGATCTGGTTTCCTACCAAGAGAGACCTTAGAGGCTACCCAAAGTTGGGAGTGGGGTGATGGATGGAGAGACAGTAACCTTTGAATTACTGAGTAGTTACATAAAACTTCTATCCATTCTTCCTTCCTTCTGCCCCACTAAACTCCCCACCAAGCCTACTCAGCATAATCTATGCCATTTTCCTGTAATGTGGCTTCTCTTAAGGTTAAGCTCAGGCAGTAACAGAAGTGGTGGGAACTTAAGGGTGCAGCAGTCACTGGTCCCCATGTCAGCACGGGAGGAGTGTAAGCAACAGGGATGGTGTGGCTCTGATGGGGTGGCCTGGGAGTTCTTATGCAGGTGTCAAGTCACCTGGGTTCTGAACCTGGCCCTGCCACCCAGCAGTTATGACCTTTGGCAAGTCACTTGAATTCTCTGAGCTGCTTTCATCACTTGTAAAGGAGTGGAGGAGGGACAGTGGACTAGATGATGTCTAAGTCCCTTTTGATTCCATTATCCAGTACTTTCAATGAGCTGAGTCTCTCCTGTGTCAAAAGTATTTGGAATGAAAATCAATTCTTCATCAAATTCTTGTAATCCAGGACATCCCCTTCTTTCTCATGGGTATTCTCCCCAGCAAGAGTCCCCACCATCTTGCCAGCATGTACATGAAAATTCTTCCATACATTTTAAGGAAGGACCATCTCTAACTGCAAGTGACAGTACCAGTTAGTGATTTGGGGACTGGATGATGTTTGGTGTTATCTACACCACTTCCTCTTCCACTGAAGGATGTCTGGAGTATGTAGGACCTTGGCATCAAGCATAAAGCCTGATAGAAACCCAGCCGGTCCAGCCCTCACCACAAAGGAAATCTCTAATGCTCTGCTGTTAACATTAGAGTCTCTTATTCCCTACCGAAAGCCTTGATCTCCCCATTGTTATTCTCGCCACTTCTTACATGATTACAGAGCAATTTACAGTTACCTAAGGACTTGCAGGCCCTATTTTAGGCTGAGGTTGTTTATCCTTACCACCTTATGAGTGAGAACAACACTCCTGTTTTCCAGATGAGGAAACTGAGTCTGAGAACCACCAAGGGGCTTGTTTGAGGCCACACAGCTGAGCGAGGGCCATGTGTGGAGCCCAGGTCTGCCTCCAAATCTGGGGCTCATGGCCTCAGGCTGAGTTGGGTGACCACACTACTGCACCTGCCAGCACCCTGTTTCCAGGTCCCCATCAGTCGTCAGCACCTCTCCCTCCCACAGGGGCCACTATGGGTACACAGGAACCCTGTGAGCCACGGGCTCAGAGAAATCCTTGCACACCTGGTCAGACACCTTCTCCACACTGCCAGCCATGTGACAACAATAGTATCTATCTCAGCAGGAGCCTGGCTCCAGGACCCACCCCTCTGCTATGTTCAGAAGCCCCTCCATTCAGAGACTGGAGAATCCAGTGTTGCTGGGAAAATCCCTTTTACTTTGTGCTGAGTTTCAGAAGAGGCCTACCCCATGCTATGCCTTTCCCACCCCTGGAGGCAAAGACATCACTCTTCCCCAGAAGTTGGCAGTATCTCACACTGACACTGAGGCTTGCAGATGGGGCCTGTGCTTCCTTCCTCAGAACCGGTCTCAGAACTCAGCCCCTGCCCACCGTTGCCATCTCAGCCCTACGACACAGTGCACCAGCAGCCTTTTGCAAGATAAGAGCTCAGCCTTTATTGTGGGCTCAGAAGGGCACAAGAGCAGAACATGCAGAGGACTGGCAGCACTCTGGCCTGGCCATCAGGCCAAGGCAGGCAGCAGCAGGCACCCATGCAGCTGCAGCAGCCTCACTTGCTGCACTTCCTGGGGGAGCATTTGCACTCCATGGCATTGAGAACCTCATGGTACACAACAGAGCCATTGGTGCAGTGCAGGGCCACCTGCATGGGCTCCGTCCGTGTCGGAGAGCAGCGGGAGCACTGGTCCTGCACATCGTTGATGTCAATGGAGTACATGGCTTTGCTGGCACATTTGCCCTGCAAGAAAGCAGAGGAAGATGGGAGCTTCACAATGGTGGGAAGTCCTGGCTTAGGCAGGGCTCTGGGGCAGCCTGCTTTCTCCCTGACCCCCTCCAAGCAAGGCAGGTCTGATCTCACCCAGAAGCACCCAGGACAGCTAGGCAATTTGTAAAGGAAGATCATAGGTCTGACATGTCCTCTTCTCTATGGTAATAATATCATACCCACACCCCTCTAGCTGCAATTTTTATGCATGTTAATGCATAAAATGTTTTATGCCTGATTATGCATGTTTTATGCAGGAAAATTTTATATATGTTTGACTGATCTTCAAGAATTGTGGCCCCCATCTTGCATAAATAACTCTCCATTTTCTGTAAAGGATTTGCTGAGTCTTTCCTCCATTTTTGTTTTTTTCCTGGAGTCAAAAATTTCCAGTTACTTCAATAAAACATTTGCTTAAAAAAAAATGCTTCCAGTTTATTTCCCTTCTCTTCCCTGCGAATTTTCCAGATCCTTCTAGAATGTAACTAAGGATAGGTATCCGAACACGGAGGCTCAGCCCTCCACACCCAGCCCTTATTGAAGCAGAGCCCTTACCTGGCAGTAGTGGATATCCACCTCTACTTCAGACTTACAGCTTCCCACCTTGACATACTGCAGCCTGGCAGTGATGTCGTTGCACTCAGGCTCCTCACCTACAGGACAGGTGAGAGATGAAACTTGAGGACTGGCTGGGGTTCTAGAGAACACTCTTCAGCCCCAGTGCCCTCACTGGGCTGGAAATAGGTCCCTTTCACAGTAACCAAATAAAGCCAGCCACAGGGAGGGAATTCAGTTATCCTGGTTCACCTCAGCTGTTCCTGGCCCGAAATATGCAGAGATATAGTTATTGCTGGACTTAACTCACTTAATGGTACAATTTTAATTGCAGGAAGAGCCTAAATTCACTGTGCTATGGTGATGTAAAATGAGGAAGACTTGCCTTTGTATCATTGTAGACTCTAAAAACCACATGGCTAAAGCAACCCTCTTGTGCTTGTAACTACATTCAGAAGCTAATGGGCAATGAAGTAGTCAATAAGTATAATTACTATCTCTTCATTCCTGCCTTGGGGTAAGAGGAAAGGCGAAGTCATGGTGATGTAAGGGCATACCCTGCCTCTCTGGGGACCGAGAAGATCCCTAGGCACCTTTGTGAAGGCCTCTCTTCGGGTACTGCTGACTCCAGGTTGCTGACATGGGGGTTTCCTTTCACACAGGGGTTAGTGGCATTCAGATCTGAATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTTGTGGTGGTTTTGTAGGTAACAGTCTCCTAATCAAATTCCACGTGCAGTGTGCCTAGAGAGAATTCTTCTTCTCTGATGGTTTCCTGACTTCACATTCTTAAACCATTCAAATGGGAATCATAGAAAGACATGCTTTCAGAGTGCTTCCTCGATCTGAGATTTGGTTACAGCAATTGCAGGGGCTGTCAAGAATGAATGATTGAACACTGAAAGTATTCATGTTTTCACTCTTCCTTTCTCTATCTGTAAACAAGCATGGACCTGTGAACCCAGGGCAGAAAAGAAATACCCTAATCTAAAACAAAAAATCTTAGTCCAGGCAAGTAATTCTATATTCAGAAATTATGGCATTAGCATTGGGATCCTGAAAGTTATTTGTGCTCACAAACACAAGCAT
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Task1_train_16979
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This is a variant in VWF (von Willebrand factor), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Von Willebrand disease type 2B
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ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTTGTGGTGGTTTTGTAGGTAACAGTCTCCTAATCAAATTCCACGTGCAGTGTGCCTAGAGAGAATTCTTCTTCTCTGATGGTTTCCTGACTTCACATTCTTAAACCATTCAAATGGGAATCATAGAAAGACATGCTTTCAGAGTGCTTCCTCGATCTGAGATTTGGTTACAGCAATTGCAGGGGCTGTCAAGAATGAATGATTGAACACTGAAAGTATTCATGTTTTCACTCTTCCTTTCTCTATCTGTAAACAAGCATGGACCTGTGAACCCAGGGCAGAAAAGAAATACCCTAATCTAAAACAAAAAATCTTAGTCCAGGCAAGTAATTCTATATTCAGAAATTATGGCATTAGCATTGGGATCCTGAAAGTTATTTGTGCTCACAAACACAAGCATGTATGGGAAGAACACTGTCTGATGTGCAGATTTGTGTCTCGTCTCCAAAGCTGCTGCTGTGAGCAATGAGAACCAATCAGTAGGACATAACTACGAGGTAAAGAGGAGCTCAGAGTGAAGAAGAGGGGGTGATAAACTTAGACCAGCCCCCACAGCACATGTGGGCTGTTGTCAGCCAGCTGGTGGCTTCGCTTTCTCTTTGAGATAGCTTTAGCACACTCATGAATAGATATGTGTTGAGAGTCTACTCTGTCAGGATCATAGATCCAAGGTGCCTGTCTTCAAGAAGCTTTGGTTAGAGAGGGAACATATCGTCCCAGGATAGGACTATGAGCAATCAAAGATCCTATGAGGGAAAAGGCACATAAGAAGCTGGAGACAGGAGGGAGTTTGCAGGAAAAGGGGAAAGAGATTGCTCCATGGGATCTAAAAGGGAGTTCAAGAGGGCAGTCTGATGACATCCAAGGAGGGGAGGCTGCTCCCTGCAAGACTGAACATAATGACTGACCAGTGGTCACGAAATATCTTTCTGAAATAAAGCTTACTCCAAAGAACAGTCATGCGGCTTGCTAATGGGTTTCAAGGAGCAAGCTGCAAAGAGCCCCTGGACTTGCTCTGATGGGTTTCAAGGGACAAGATATTAGTAACGCACTCACATGTGTCACAGCAGGTGCCTGGAATTTTCATAATTTTACCCTAAGAAAACAGCAAAATTTCAGGTTAGGCACAAACAGTACAGAGTAGACAGCTTTCAGGTCACTCCGGGCCAATTTTTAGCTCCGAACTCACAGCCCTGTGCTTAAGTGCCCAGATGTAAACTATGCTTTCCTATCATAAATGTGAGCAGCTTGACCACCCTACCTGACCAGGCTGAAACAATTTTGATGATTCTGAATTCTCTTCCAGTTGAGTCATCAGGATCTTCATTCCCAGGGAGACTAAAAATCAGTTTGATCTCACATTTTATTCAAGAATCACACACTCAGCCTCCCTTAAGGAAAATATTTTTTTAAAACATCCTATATTGCAGAGAATTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACTGATTCTTCAACTAGGCCAGAGATGTGCCTCAGACACTGAGAAATTATGCCGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTCCCTCAGCCAGACACTTGTGTTCATCAAAGGGTGGGCAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAGTGAGTATCACAGCCATCCTGGAGCGTCTCATCACGCTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAGCCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAGAACCATGAAACAAGAAGACAGTGTATAATAAAGCCCCCACACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTTGTATCCTATGAACAGGGCTGCTATGTAGACTCTTCCGACCAGTTAAATGCTTGAAGGATTGAGATATAGCAACAGTAAACTGGCTAGCTGATAACTGAACTAGAGATGAACGAAGGGAACTACCTCCCAGCCCCACCAGCTAGTCCGGACTTCATAGACCAGAGTTTGTTTCACGCTGATGGCCTGTCCAGTCTTACAGACGCCCAAGGGTAGAGAAAATCTTAAAGATCAACCACCTCCAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATGAAATCCCATCTCTACTAAAACTACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGACAGGGAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGACATTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAGAAAGAAAAAAAAAAGATCAATCAACTCCAAATTGTGAGGCCCTACACCAAGTACACTCTTGTCAAGAAGAGCAACAAAATAACTAAATAAAAGAGAAAATTCTGTGCCTGCAATAAGTCATCTATCTTTTCTTTATATAATCAGAAAGAAATAGAAAAAGAAGCCAATACTGAACCAAACTTAGCCCCTCTTCCTTGAAGAAAAATTTCCAAAAAAGGAAGCAAGATGGTGATATGTGAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCTTAAAACATCCCAATTGTAAGTAGGCTGATTTTGCTGGCCTCTCATCTCTCTCATCCAGTAGTTTCACCTAGAATTCGGAAAGTCAACATCCAACTCCAACCAGCTTTTGTCAGTTCTCAGTCCCCTAGGTAGCATTCCTTCACTCTGCATGTGCACATCTCACTCAAGTTGTAGCAGCCAGTCCTATTAAATGAGACCTTTTCCCTGAGCTTCAGACTTACAAATTCAATTGTTTACTGGACAATTATTCTATTGTCATCTTGAGACTTGCATCCAAAAGGAAATTTGATTTTTGTCCCAAATCTCATCTTTCTCTGGTATTCCCTATTTTGGTAAGTGGCGTTAATCACCCAGTCTTTCAAACAAGAAATCTGAGAGTTATCCTTGACTTCCCCTTTTTTCTCATCCCCTGCTTATCACCAAATCTTGCCAAAAATGTATCTCAAACTCATCCATTGCTTGTCATGACCAGTCTCCTCTTTCATCATTGAGTCTAAATAACCATCATCTACCAGGGACTCTGGTAATAGTCTTATTTTGTCTTCCTACCTTCATTCTTGCTCCCCTGCTACAGGTTACCACACATCTGCCAGAATGACCTTCTTAAAGCCTACGTCTACTCTTGTGACTCCTCAGCTTAGAAACTTTTGATGAGGTTCTGGCTGTAGTTACGGCACAGTGGCTTGTATTGGACTAACCTTCCTGCAGATGATGATTATAAACAATTAACGAAATATTTAAAGCCAACTGTTCAAAAGCACTGGAAGAAGACCAAAATCAAGAATAAAGTCTAGATTATTTGATCCTTGAAAAAAGGAACCATAATGGACAAGATTCATGTTTAAATGGCTTTTCCCATGAGGGCCGTCTGTATGGCACTGGACAGCCAGAACTCAAGCAGAAAACTGTAGTTGTATCTGCCTGAGGACTC
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ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTTGTGGTGGTTTTGTAGGTAACAGTCTCCTAATCAAATTCCACGTGCAGTGTGCCTAGAGAGAATTCTTCTTCTCTGATGGTTTCCTGACTTCACATTCTTAAACCATTCAAATGGGAATCATAGAAAGACATGCTTTCAGAGTGCTTCCTCGATCTGAGATTTGGTTACAGCAATTGCAGGGGCTGTCAAGAATGAATGATTGAACACTGAAAGTATTCATGTTTTCACTCTTCCTTTCTCTATCTGTAAACAAGCATGGACCTGTGAACCCAGGGCAGAAAAGAAATACCCTAATCTAAAACAAAAAATCTTAGTCCAGGCAAGTAATTCTATATTCAGAAATTATGGCATTAGCATTGGGATCCTGAAAGTTATTTGTGCTCACAAACACAAGCATGTATGGGAAGAACACTGTCTGATGTGCAGATTTGTGTCTCGTCTCCAAAGCTGCTGCTGTGAGCAATGAGAACCAATCAGTAGGACATAACTACGAGGTAAAGAGGAGCTCAGAGTGAAGAAGAGGGGGTGATAAACTTAGACCAGCCCCCACAGCACATGTGGGCTGTTGTCAGCCAGCTGGTGGCTTCGCTTTCTCTTTGAGATAGCTTTAGCACACTCATGAATAGATATGTGTTGAGAGTCTACTCTGTCAGGATCATAGATCCAAGGTGCCTGTCTTCAAGAAGCTTTGGTTAGAGAGGGAACATATCGTCCCAGGATAGGACTATGAGCAATCAAAGATCCTATGAGGGAAAAGGCACATAAGAAGCTGGAGACAGGAGGGAGTTTGCAGGAAAAGGGGAAAGAGATTGCTCCATGGGATCTAAAAGGGAGTTCAAGAGGGCAGTCTGATGACATCCAAGGAGGGGAGGCTGCTCCCTGCAAGACTGAACATAATGACTGACCAGTGGTCACGAAATATCTTTCTGAAATAAAGCTTACTCCAAAGAACAGTCATGCGGCTTGCTAATGGGTTTCAAGGAGCAAGCTGCAAAGAGCCCCTGGACTTGCTCTGATGGGTTTCAAGGGACAAGATATTAGTAACGCACTCACATGTGTCACAGCAGGTGCCTGGAATTTTCATAATTTTACCCTAAGAAAACAGCAAAATTTCAGGTTAGGCACAAACAGTACAGAGTAGACAGCTTTCAGGTCACTCCGGGCCAATTTTTAGCTCCGAACTCACAGCCCTGTGCTTAAGTGCCCAGATGTAAACTATGCTTTCCTATCATAAATGTGAGCAGCTTGACCACCCTACCTGACCAGGCTGAAACAATTTTGATGATTCTGAATTCTCTTCCAGTTGAGTCATCAGGATCTTCATTCCCAGGGAGACTAAAAATCAGTTTGATCTCACATTTTATTCAAGAATCACACACTCAGCCTCCCTTAAGGAAAATATTTTTTTAAAACATCCTATATTGCAGAGAATTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACTGATTCTTCAACTAGGCCAGAGATGTGCCTCAGACACTGAGAAATTATGCCGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTCCCTCAGCCAGACACTTGTGTTCATCAAAGGGTGGGCAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAGTGAGTATCACAGCCATCCTGGAGCGTCTCATCACACTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAGCCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAGAACCATGAAACAAGAAGACAGTGTATAATAAAGCCCCCACACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTTGTATCCTATGAACAGGGCTGCTATGTAGACTCTTCCGACCAGTTAAATGCTTGAAGGATTGAGATATAGCAACAGTAAACTGGCTAGCTGATAACTGAACTAGAGATGAACGAAGGGAACTACCTCCCAGCCCCACCAGCTAGTCCGGACTTCATAGACCAGAGTTTGTTTCACGCTGATGGCCTGTCCAGTCTTACAGACGCCCAAGGGTAGAGAAAATCTTAAAGATCAACCACCTCCAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATGAAATCCCATCTCTACTAAAACTACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGACAGGGAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGACATTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAGAAAGAAAAAAAAAAGATCAATCAACTCCAAATTGTGAGGCCCTACACCAAGTACACTCTTGTCAAGAAGAGCAACAAAATAACTAAATAAAAGAGAAAATTCTGTGCCTGCAATAAGTCATCTATCTTTTCTTTATATAATCAGAAAGAAATAGAAAAAGAAGCCAATACTGAACCAAACTTAGCCCCTCTTCCTTGAAGAAAAATTTCCAAAAAAGGAAGCAAGATGGTGATATGTGAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCTTAAAACATCCCAATTGTAAGTAGGCTGATTTTGCTGGCCTCTCATCTCTCTCATCCAGTAGTTTCACCTAGAATTCGGAAAGTCAACATCCAACTCCAACCAGCTTTTGTCAGTTCTCAGTCCCCTAGGTAGCATTCCTTCACTCTGCATGTGCACATCTCACTCAAGTTGTAGCAGCCAGTCCTATTAAATGAGACCTTTTCCCTGAGCTTCAGACTTACAAATTCAATTGTTTACTGGACAATTATTCTATTGTCATCTTGAGACTTGCATCCAAAAGGAAATTTGATTTTTGTCCCAAATCTCATCTTTCTCTGGTATTCCCTATTTTGGTAAGTGGCGTTAATCACCCAGTCTTTCAAACAAGAAATCTGAGAGTTATCCTTGACTTCCCCTTTTTTCTCATCCCCTGCTTATCACCAAATCTTGCCAAAAATGTATCTCAAACTCATCCATTGCTTGTCATGACCAGTCTCCTCTTTCATCATTGAGTCTAAATAACCATCATCTACCAGGGACTCTGGTAATAGTCTTATTTTGTCTTCCTACCTTCATTCTTGCTCCCCTGCTACAGGTTACCACACATCTGCCAGAATGACCTTCTTAAAGCCTACGTCTACTCTTGTGACTCCTCAGCTTAGAAACTTTTGATGAGGTTCTGGCTGTAGTTACGGCACAGTGGCTTGTATTGGACTAACCTTCCTGCAGATGATGATTATAAACAATTAACGAAATATTTAAAGCCAACTGTTCAAAAGCACTGGAAGAAGACCAAAATCAAGAATAAAGTCTAGATTATTTGATCCTTGAAAAAAGGAACCATAATGGACAAGATTCATGTTTAAATGGCTTTTCCCATGAGGGCCGTCTGTATGGCACTGGACAGCCAGAACTCAAGCAGAAAACTGTAGTTGTATCTGCCTGAGGACTC
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Task1_train_16980
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A change on Chromosome 12 affects gene VWF (von Willebrand factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; von Willebrand disease type 1
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ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTTGTGGTGGTTTTGTAGGTAACAGTCTCCTAATCAAATTCCACGTGCAGTGTGCCTAGAGAGAATTCTTCTTCTCTGATGGTTTCCTGACTTCACATTCTTAAACCATTCAAATGGGAATCATAGAAAGACATGCTTTCAGAGTGCTTCCTCGATCTGAGATTTGGTTACAGCAATTGCAGGGGCTGTCAAGAATGAATGATTGAACACTGAAAGTATTCATGTTTTCACTCTTCCTTTCTCTATCTGTAAACAAGCATGGACCTGTGAACCCAGGGCAGAAAAGAAATACCCTAATCTAAAACAAAAAATCTTAGTCCAGGCAAGTAATTCTATATTCAGAAATTATGGCATTAGCATTGGGATCCTGAAAGTTATTTGTGCTCACAAACACAAGCATGTATGGGAAGAACACTGTCTGATGTGCAGATTTGTGTCTCGTCTCCAAAGCTGCTGCTGTGAGCAATGAGAACCAATCAGTAGGACATAACTACGAGGTAAAGAGGAGCTCAGAGTGAAGAAGAGGGGGTGATAAACTTAGACCAGCCCCCACAGCACATGTGGGCTGTTGTCAGCCAGCTGGTGGCTTCGCTTTCTCTTTGAGATAGCTTTAGCACACTCATGAATAGATATGTGTTGAGAGTCTACTCTGTCAGGATCATAGATCCAAGGTGCCTGTCTTCAAGAAGCTTTGGTTAGAGAGGGAACATATCGTCCCAGGATAGGACTATGAGCAATCAAAGATCCTATGAGGGAAAAGGCACATAAGAAGCTGGAGACAGGAGGGAGTTTGCAGGAAAAGGGGAAAGAGATTGCTCCATGGGATCTAAAAGGGAGTTCAAGAGGGCAGTCTGATGACATCCAAGGAGGGGAGGCTGCTCCCTGCAAGACTGAACATAATGACTGACCAGTGGTCACGAAATATCTTTCTGAAATAAAGCTTACTCCAAAGAACAGTCATGCGGCTTGCTAATGGGTTTCAAGGAGCAAGCTGCAAAGAGCCCCTGGACTTGCTCTGATGGGTTTCAAGGGACAAGATATTAGTAACGCACTCACATGTGTCACAGCAGGTGCCTGGAATTTTCATAATTTTACCCTAAGAAAACAGCAAAATTTCAGGTTAGGCACAAACAGTACAGAGTAGACAGCTTTCAGGTCACTCCGGGCCAATTTTTAGCTCCGAACTCACAGCCCTGTGCTTAAGTGCCCAGATGTAAACTATGCTTTCCTATCATAAATGTGAGCAGCTTGACCACCCTACCTGACCAGGCTGAAACAATTTTGATGATTCTGAATTCTCTTCCAGTTGAGTCATCAGGATCTTCATTCCCAGGGAGACTAAAAATCAGTTTGATCTCACATTTTATTCAAGAATCACACACTCAGCCTCCCTTAAGGAAAATATTTTTTTAAAACATCCTATATTGCAGAGAATTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACTGATTCTTCAACTAGGCCAGAGATGTGCCTCAGACACTGAGAAATTATGCCGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTCCCTCAGCCAGACACTTGTGTTCATCAAAGGGTGGGCAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAGTGAGTATCACAGCCATCCTGGAGCGTCTCATCACGCTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAGCCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAGAACCATGAAACAAGAAGACAGTGTATAATAAAGCCCCCACACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTTGTATCCTATGAACAGGGCTGCTATGTAGACTCTTCCGACCAGTTAAATGCTTGAAGGATTGAGATATAGCAACAGTAAACTGGCTAGCTGATAACTGAACTAGAGATGAACGAAGGGAACTACCTCCCAGCCCCACCAGCTAGTCCGGACTTCATAGACCAGAGTTTGTTTCACGCTGATGGCCTGTCCAGTCTTACAGACGCCCAAGGGTAGAGAAAATCTTAAAGATCAACCACCTCCAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATGAAATCCCATCTCTACTAAAACTACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGACAGGGAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGACATTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAGAAAGAAAAAAAAAAGATCAATCAACTCCAAATTGTGAGGCCCTACACCAAGTACACTCTTGTCAAGAAGAGCAACAAAATAACTAAATAAAAGAGAAAATTCTGTGCCTGCAATAAGTCATCTATCTTTTCTTTATATAATCAGAAAGAAATAGAAAAAGAAGCCAATACTGAACCAAACTTAGCCCCTCTTCCTTGAAGAAAAATTTCCAAAAAAGGAAGCAAGATGGTGATATGTGAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCTTAAAACATCCCAATTGTAAGTAGGCTGATTTTGCTGGCCTCTCATCTCTCTCATCCAGTAGTTTCACCTAGAATTCGGAAAGTCAACATCCAACTCCAACCAGCTTTTGTCAGTTCTCAGTCCCCTAGGTAGCATTCCTTCACTCTGCATGTGCACATCTCACTCAAGTTGTAGCAGCCAGTCCTATTAAATGAGACCTTTTCCCTGAGCTTCAGACTTACAAATTCAATTGTTTACTGGACAATTATTCTATTGTCATCTTGAGACTTGCATCCAAAAGGAAATTTGATTTTTGTCCCAAATCTCATCTTTCTCTGGTATTCCCTATTTTGGTAAGTGGCGTTAATCACCCAGTCTTTCAAACAAGAAATCTGAGAGTTATCCTTGACTTCCCCTTTTTTCTCATCCCCTGCTTATCACCAAATCTTGCCAAAAATGTATCTCAAACTCATCCATTGCTTGTCATGACCAGTCTCCTCTTTCATCATTGAGTCTAAATAACCATCATCTACCAGGGACTCTGGTAATAGTCTTATTTTGTCTTCCTACCTTCATTCTTGCTCCCCTGCTACAGGTTACCACACATCTGCCAGAATGACCTTCTTAAAGCCTACGTCTACTCTTGTGACTCCTCAGCTTAGAAACTTTTGATGAGGTTCTGGCTGTAGTTACGGCACAGTGGCTTGTATTGGACTAACCTTCCTGCAGATGATGATTATAAACAATTAACGAAATATTTAAAGCCAACTGTTCAAAAGCACTGGAAGAAGACCAAAATCAAGAATAAAGTCTAGATTATTTGATCCTTGAAAAAAGGAACCATAATGGACAAGATTCATGTTTAAATGGCTTTTCCCATGAGGGCCGTCTGTATGGCACTGGACAGCCAGAACTCAAGCAGAAAACTGTAGTTGTATCTGCCTGAGGACTC
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ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTTGTGGTGGTTTTGTAGGTAACAGTCTCCTAATCAAATTCCACGTGCAGTGTGCCTAGAGAGAATTCTTCTTCTCTGATGGTTTCCTGACTTCACATTCTTAAACCATTCAAATGGGAATCATAGAAAGACATGCTTTCAGAGTGCTTCCTCGATCTGAGATTTGGTTACAGCAATTGCAGGGGCTGTCAAGAATGAATGATTGAACACTGAAAGTATTCATGTTTTCACTCTTCCTTTCTCTATCTGTAAACAAGCATGGACCTGTGAACCCAGGGCAGAAAAGAAATACCCTAATCTAAAACAAAAAATCTTAGTCCAGGCAAGTAATTCTATATTCAGAAATTATGGCATTAGCATTGGGATCCTGAAAGTTATTTGTGCTCACAAACACAAGCATGTATGGGAAGAACACTGTCTGATGTGCAGATTTGTGTCTCGTCTCCAAAGCTGCTGCTGTGAGCAATGAGAACCAATCAGTAGGACATAACTACGAGGTAAAGAGGAGCTCAGAGTGAAGAAGAGGGGGTGATAAACTTAGACCAGCCCCCACAGCACATGTGGGCTGTTGTCAGCCAGCTGGTGGCTTCGCTTTCTCTTTGAGATAGCTTTAGCACACTCATGAATAGATATGTGTTGAGAGTCTACTCTGTCAGGATCATAGATCCAAGGTGCCTGTCTTCAAGAAGCTTTGGTTAGAGAGGGAACATATCGTCCCAGGATAGGACTATGAGCAATCAAAGATCCTATGAGGGAAAAGGCACATAAGAAGCTGGAGACAGGAGGGAGTTTGCAGGAAAAGGGGAAAGAGATTGCTCCATGGGATCTAAAAGGGAGTTCAAGAGGGCAGTCTGATGACATCCAAGGAGGGGAGGCTGCTCCCTGCAAGACTGAACATAATGACTGACCAGTGGTCACGAAATATCTTTCTGAAATAAAGCTTACTCCAAAGAACAGTCATGCGGCTTGCTAATGGGTTTCAAGGAGCAAGCTGCAAAGAGCCCCTGGACTTGCTCTGATGGGTTTCAAGGGACAAGATATTAGTAACGCACTCACATGTGTCACAGCAGGTGCCTGGAATTTTCATAATTTTACCCTAAGAAAACAGCAAAATTTCAGGTTAGGCACAAACAGTACAGAGTAGACAGCTTTCAGGTCACTCCGGGCCAATTTTTAGCTCCGAACTCACAGCCCTGTGCTTAAGTGCCCAGATGTAAACTATGCTTTCCTATCATAAATGTGAGCAGCTTGACCACCCTACCTGACCAGGCTGAAACAATTTTGATGATTCTGAATTCTCTTCCAGTTGAGTCATCAGGATCTTCATTCCCAGGGAGACTAAAAATCAGTTTGATCTCACATTTTATTCAAGAATCACACACTCAGCCTCCCTTAAGGAAAATATTTTTTTAAAACATCCTATATTGCAGAGAATTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACTGATTCTTCAACTAGGCCAGAGATGTGCCTCAGACACTGAGAAATTATGCCGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTCCCTCAGCCAGACACTTGTGTTCATCAAAGGGTGGGCAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAGTGAGTATCACAGCCATCCTGGAGCGTCTCATCACACTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAGCCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAGAACCATGAAACAAGAAGACAGTGTATAATAAAGCCCCCACACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTTGTATCCTATGAACAGGGCTGCTATGTAGACTCTTCCGACCAGTTAAATGCTTGAAGGATTGAGATATAGCAACAGTAAACTGGCTAGCTGATAACTGAACTAGAGATGAACGAAGGGAACTACCTCCCAGCCCCACCAGCTAGTCCGGACTTCATAGACCAGAGTTTGTTTCACGCTGATGGCCTGTCCAGTCTTACAGACGCCCAAGGGTAGAGAAAATCTTAAAGATCAACCACCTCCAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATGAAATCCCATCTCTACTAAAACTACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGACAGGGAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGACATTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAGAAAGAAAAAAAAAAGATCAATCAACTCCAAATTGTGAGGCCCTACACCAAGTACACTCTTGTCAAGAAGAGCAACAAAATAACTAAATAAAAGAGAAAATTCTGTGCCTGCAATAAGTCATCTATCTTTTCTTTATATAATCAGAAAGAAATAGAAAAAGAAGCCAATACTGAACCAAACTTAGCCCCTCTTCCTTGAAGAAAAATTTCCAAAAAAGGAAGCAAGATGGTGATATGTGAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCTTAAAACATCCCAATTGTAAGTAGGCTGATTTTGCTGGCCTCTCATCTCTCTCATCCAGTAGTTTCACCTAGAATTCGGAAAGTCAACATCCAACTCCAACCAGCTTTTGTCAGTTCTCAGTCCCCTAGGTAGCATTCCTTCACTCTGCATGTGCACATCTCACTCAAGTTGTAGCAGCCAGTCCTATTAAATGAGACCTTTTCCCTGAGCTTCAGACTTACAAATTCAATTGTTTACTGGACAATTATTCTATTGTCATCTTGAGACTTGCATCCAAAAGGAAATTTGATTTTTGTCCCAAATCTCATCTTTCTCTGGTATTCCCTATTTTGGTAAGTGGCGTTAATCACCCAGTCTTTCAAACAAGAAATCTGAGAGTTATCCTTGACTTCCCCTTTTTTCTCATCCCCTGCTTATCACCAAATCTTGCCAAAAATGTATCTCAAACTCATCCATTGCTTGTCATGACCAGTCTCCTCTTTCATCATTGAGTCTAAATAACCATCATCTACCAGGGACTCTGGTAATAGTCTTATTTTGTCTTCCTACCTTCATTCTTGCTCCCCTGCTACAGGTTACCACACATCTGCCAGAATGACCTTCTTAAAGCCTACGTCTACTCTTGTGACTCCTCAGCTTAGAAACTTTTGATGAGGTTCTGGCTGTAGTTACGGCACAGTGGCTTGTATTGGACTAACCTTCCTGCAGATGATGATTATAAACAATTAACGAAATATTTAAAGCCAACTGTTCAAAAGCACTGGAAGAAGACCAAAATCAAGAATAAAGTCTAGATTATTTGATCCTTGAAAAAAGGAACCATAATGGACAAGATTCATGTTTAAATGGCTTTTCCCATGAGGGCCGTCTGTATGGCACTGGACAGCCAGAACTCAAGCAGAAAACTGTAGTTGTATCTGCCTGAGGACTC
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Task1_train_16981
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This genomic variant is located on Chromosome 12, within the VWF (von Willebrand factor) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not specified
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ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTTGTGGTGGTTTTGTAGGTAACAGTCTCCTAATCAAATTCCACGTGCAGTGTGCCTAGAGAGAATTCTTCTTCTCTGATGGTTTCCTGACTTCACATTCTTAAACCATTCAAATGGGAATCATAGAAAGACATGCTTTCAGAGTGCTTCCTCGATCTGAGATTTGGTTACAGCAATTGCAGGGGCTGTCAAGAATGAATGATTGAACACTGAAAGTATTCATGTTTTCACTCTTCCTTTCTCTATCTGTAAACAAGCATGGACCTGTGAACCCAGGGCAGAAAAGAAATACCCTAATCTAAAACAAAAAATCTTAGTCCAGGCAAGTAATTCTATATTCAGAAATTATGGCATTAGCATTGGGATCCTGAAAGTTATTTGTGCTCACAAACACAAGCATGTATGGGAAGAACACTGTCTGATGTGCAGATTTGTGTCTCGTCTCCAAAGCTGCTGCTGTGAGCAATGAGAACCAATCAGTAGGACATAACTACGAGGTAAAGAGGAGCTCAGAGTGAAGAAGAGGGGGTGATAAACTTAGACCAGCCCCCACAGCACATGTGGGCTGTTGTCAGCCAGCTGGTGGCTTCGCTTTCTCTTTGAGATAGCTTTAGCACACTCATGAATAGATATGTGTTGAGAGTCTACTCTGTCAGGATCATAGATCCAAGGTGCCTGTCTTCAAGAAGCTTTGGTTAGAGAGGGAACATATCGTCCCAGGATAGGACTATGAGCAATCAAAGATCCTATGAGGGAAAAGGCACATAAGAAGCTGGAGACAGGAGGGAGTTTGCAGGAAAAGGGGAAAGAGATTGCTCCATGGGATCTAAAAGGGAGTTCAAGAGGGCAGTCTGATGACATCCAAGGAGGGGAGGCTGCTCCCTGCAAGACTGAACATAATGACTGACCAGTGGTCACGAAATATCTTTCTGAAATAAAGCTTACTCCAAAGAACAGTCATGCGGCTTGCTAATGGGTTTCAAGGAGCAAGCTGCAAAGAGCCCCTGGACTTGCTCTGATGGGTTTCAAGGGACAAGATATTAGTAACGCACTCACATGTGTCACAGCAGGTGCCTGGAATTTTCATAATTTTACCCTAAGAAAACAGCAAAATTTCAGGTTAGGCACAAACAGTACAGAGTAGACAGCTTTCAGGTCACTCCGGGCCAATTTTTAGCTCCGAACTCACAGCCCTGTGCTTAAGTGCCCAGATGTAAACTATGCTTTCCTATCATAAATGTGAGCAGCTTGACCACCCTACCTGACCAGGCTGAAACAATTTTGATGATTCTGAATTCTCTTCCAGTTGAGTCATCAGGATCTTCATTCCCAGGGAGACTAAAAATCAGTTTGATCTCACATTTTATTCAAGAATCACACACTCAGCCTCCCTTAAGGAAAATATTTTTTTAAAACATCCTATATTGCAGAGAATTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACTGATTCTTCAACTAGGCCAGAGATGTGCCTCAGACACTGAGAAATTATGCCGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTCCCTCAGCCAGACACTTGTGTTCATCAAAGGGTGGGCAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAGTGAGTATCACAGCCATCCTGGAGCGTCTCATCACGCTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAGCCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAGAACCATGAAACAAGAAGACAGTGTATAATAAAGCCCCCACACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTTGTATCCTATGAACAGGGCTGCTATGTAGACTCTTCCGACCAGTTAAATGCTTGAAGGATTGAGATATAGCAACAGTAAACTGGCTAGCTGATAACTGAACTAGAGATGAACGAAGGGAACTACCTCCCAGCCCCACCAGCTAGTCCGGACTTCATAGACCAGAGTTTGTTTCACGCTGATGGCCTGTCCAGTCTTACAGACGCCCAAGGGTAGAGAAAATCTTAAAGATCAACCACCTCCAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATGAAATCCCATCTCTACTAAAACTACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGACAGGGAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGACATTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAGAAAGAAAAAAAAAAGATCAATCAACTCCAAATTGTGAGGCCCTACACCAAGTACACTCTTGTCAAGAAGAGCAACAAAATAACTAAATAAAAGAGAAAATTCTGTGCCTGCAATAAGTCATCTATCTTTTCTTTATATAATCAGAAAGAAATAGAAAAAGAAGCCAATACTGAACCAAACTTAGCCCCTCTTCCTTGAAGAAAAATTTCCAAAAAAGGAAGCAAGATGGTGATATGTGAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCTTAAAACATCCCAATTGTAAGTAGGCTGATTTTGCTGGCCTCTCATCTCTCTCATCCAGTAGTTTCACCTAGAATTCGGAAAGTCAACATCCAACTCCAACCAGCTTTTGTCAGTTCTCAGTCCCCTAGGTAGCATTCCTTCACTCTGCATGTGCACATCTCACTCAAGTTGTAGCAGCCAGTCCTATTAAATGAGACCTTTTCCCTGAGCTTCAGACTTACAAATTCAATTGTTTACTGGACAATTATTCTATTGTCATCTTGAGACTTGCATCCAAAAGGAAATTTGATTTTTGTCCCAAATCTCATCTTTCTCTGGTATTCCCTATTTTGGTAAGTGGCGTTAATCACCCAGTCTTTCAAACAAGAAATCTGAGAGTTATCCTTGACTTCCCCTTTTTTCTCATCCCCTGCTTATCACCAAATCTTGCCAAAAATGTATCTCAAACTCATCCATTGCTTGTCATGACCAGTCTCCTCTTTCATCATTGAGTCTAAATAACCATCATCTACCAGGGACTCTGGTAATAGTCTTATTTTGTCTTCCTACCTTCATTCTTGCTCCCCTGCTACAGGTTACCACACATCTGCCAGAATGACCTTCTTAAAGCCTACGTCTACTCTTGTGACTCCTCAGCTTAGAAACTTTTGATGAGGTTCTGGCTGTAGTTACGGCACAGTGGCTTGTATTGGACTAACCTTCCTGCAGATGATGATTATAAACAATTAACGAAATATTTAAAGCCAACTGTTCAAAAGCACTGGAAGAAGACCAAAATCAAGAATAAAGTCTAGATTATTTGATCCTTGAAAAAAGGAACCATAATGGACAAGATTCATGTTTAAATGGCTTTTCCCATGAGGGCCGTCTGTATGGCACTGGACAGCCAGAACTCAAGCAGAAAACTGTAGTTGTATCTGCCTGAGGACTC
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ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTTGTGGTGGTTTTGTAGGTAACAGTCTCCTAATCAAATTCCACGTGCAGTGTGCCTAGAGAGAATTCTTCTTCTCTGATGGTTTCCTGACTTCACATTCTTAAACCATTCAAATGGGAATCATAGAAAGACATGCTTTCAGAGTGCTTCCTCGATCTGAGATTTGGTTACAGCAATTGCAGGGGCTGTCAAGAATGAATGATTGAACACTGAAAGTATTCATGTTTTCACTCTTCCTTTCTCTATCTGTAAACAAGCATGGACCTGTGAACCCAGGGCAGAAAAGAAATACCCTAATCTAAAACAAAAAATCTTAGTCCAGGCAAGTAATTCTATATTCAGAAATTATGGCATTAGCATTGGGATCCTGAAAGTTATTTGTGCTCACAAACACAAGCATGTATGGGAAGAACACTGTCTGATGTGCAGATTTGTGTCTCGTCTCCAAAGCTGCTGCTGTGAGCAATGAGAACCAATCAGTAGGACATAACTACGAGGTAAAGAGGAGCTCAGAGTGAAGAAGAGGGGGTGATAAACTTAGACCAGCCCCCACAGCACATGTGGGCTGTTGTCAGCCAGCTGGTGGCTTCGCTTTCTCTTTGAGATAGCTTTAGCACACTCATGAATAGATATGTGTTGAGAGTCTACTCTGTCAGGATCATAGATCCAAGGTGCCTGTCTTCAAGAAGCTTTGGTTAGAGAGGGAACATATCGTCCCAGGATAGGACTATGAGCAATCAAAGATCCTATGAGGGAAAAGGCACATAAGAAGCTGGAGACAGGAGGGAGTTTGCAGGAAAAGGGGAAAGAGATTGCTCCATGGGATCTAAAAGGGAGTTCAAGAGGGCAGTCTGATGACATCCAAGGAGGGGAGGCTGCTCCCTGCAAGACTGAACATAATGACTGACCAGTGGTCACGAAATATCTTTCTGAAATAAAGCTTACTCCAAAGAACAGTCATGCGGCTTGCTAATGGGTTTCAAGGAGCAAGCTGCAAAGAGCCCCTGGACTTGCTCTGATGGGTTTCAAGGGACAAGATATTAGTAACGCACTCACATGTGTCACAGCAGGTGCCTGGAATTTTCATAATTTTACCCTAAGAAAACAGCAAAATTTCAGGTTAGGCACAAACAGTACAGAGTAGACAGCTTTCAGGTCACTCCGGGCCAATTTTTAGCTCCGAACTCACAGCCCTGTGCTTAAGTGCCCAGATGTAAACTATGCTTTCCTATCATAAATGTGAGCAGCTTGACCACCCTACCTGACCAGGCTGAAACAATTTTGATGATTCTGAATTCTCTTCCAGTTGAGTCATCAGGATCTTCATTCCCAGGGAGACTAAAAATCAGTTTGATCTCACATTTTATTCAAGAATCACACACTCAGCCTCCCTTAAGGAAAATATTTTTTTAAAACATCCTATATTGCAGAGAATTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACTGATTCTTCAACTAGGCCAGAGATGTGCCTCAGACACTGAGAAATTATGCCGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTCCCTCAGCCAGACACTTGTGTTCATCAAAGGGTGGGCAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAGTGAGTATCACAGCCATCCTGGAGCGTCTCATCACACTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAGCCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAGAACCATGAAACAAGAAGACAGTGTATAATAAAGCCCCCACACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTTGTATCCTATGAACAGGGCTGCTATGTAGACTCTTCCGACCAGTTAAATGCTTGAAGGATTGAGATATAGCAACAGTAAACTGGCTAGCTGATAACTGAACTAGAGATGAACGAAGGGAACTACCTCCCAGCCCCACCAGCTAGTCCGGACTTCATAGACCAGAGTTTGTTTCACGCTGATGGCCTGTCCAGTCTTACAGACGCCCAAGGGTAGAGAAAATCTTAAAGATCAACCACCTCCAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGATGAAATCCCATCTCTACTAAAACTACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGACAGGGAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGACATTGCACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAGAAAGAAAAAAAAAAGATCAATCAACTCCAAATTGTGAGGCCCTACACCAAGTACACTCTTGTCAAGAAGAGCAACAAAATAACTAAATAAAAGAGAAAATTCTGTGCCTGCAATAAGTCATCTATCTTTTCTTTATATAATCAGAAAGAAATAGAAAAAGAAGCCAATACTGAACCAAACTTAGCCCCTCTTCCTTGAAGAAAAATTTCCAAAAAAGGAAGCAAGATGGTGATATGTGAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCTTAAAACATCCCAATTGTAAGTAGGCTGATTTTGCTGGCCTCTCATCTCTCTCATCCAGTAGTTTCACCTAGAATTCGGAAAGTCAACATCCAACTCCAACCAGCTTTTGTCAGTTCTCAGTCCCCTAGGTAGCATTCCTTCACTCTGCATGTGCACATCTCACTCAAGTTGTAGCAGCCAGTCCTATTAAATGAGACCTTTTCCCTGAGCTTCAGACTTACAAATTCAATTGTTTACTGGACAATTATTCTATTGTCATCTTGAGACTTGCATCCAAAAGGAAATTTGATTTTTGTCCCAAATCTCATCTTTCTCTGGTATTCCCTATTTTGGTAAGTGGCGTTAATCACCCAGTCTTTCAAACAAGAAATCTGAGAGTTATCCTTGACTTCCCCTTTTTTCTCATCCCCTGCTTATCACCAAATCTTGCCAAAAATGTATCTCAAACTCATCCATTGCTTGTCATGACCAGTCTCCTCTTTCATCATTGAGTCTAAATAACCATCATCTACCAGGGACTCTGGTAATAGTCTTATTTTGTCTTCCTACCTTCATTCTTGCTCCCCTGCTACAGGTTACCACACATCTGCCAGAATGACCTTCTTAAAGCCTACGTCTACTCTTGTGACTCCTCAGCTTAGAAACTTTTGATGAGGTTCTGGCTGTAGTTACGGCACAGTGGCTTGTATTGGACTAACCTTCCTGCAGATGATGATTATAAACAATTAACGAAATATTTAAAGCCAACTGTTCAAAAGCACTGGAAGAAGACCAAAATCAAGAATAAAGTCTAGATTATTTGATCCTTGAAAAAAGGAACCATAATGGACAAGATTCATGTTTAAATGGCTTTTCCCATGAGGGCCGTCTGTATGGCACTGGACAGCCAGAACTCAAGCAGAAAACTGTAGTTGTATCTGCCTGAGGACTC
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Task1_train_16982
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This sequence variant lies in VWF (von Willebrand factor) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; von Willebrand disease type 3
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CTGAGGTAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGAAGAACGAATGAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAGTGAGGGAGGGAGTGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGTGACGTAGGTAGGTAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGTGACGTAGGGAGGGAGGGAGGAGGACAGCTGGACATTATGTGCCTCTGGGTGTGATGCACATGGCACCCTTGATCAGGTATTCTTGCCTCCCTACTGCATTGACCTTGAATGTAATGAATCCCCTGGGTCTAACTTCTAGTCTACTGGAAATACAGGGGATAGAGGAACACATTATGCAATACCATAAGGTGGCTGCTAGTCAAATCCAGAATTCATGACATTCTACAGGACAAATGACCCAGCTTCCCCAACAAATCAAAGGCATAAAAATGGGGAGTGGCATTACTATAGATTAAAGACACACAAGAAACATTAATAGAAAAACAGCAAGGCAGGAGGGGTGGGCAGGAAGACGAGAAGGAGAACAGAGATATAAGAAAGCAGCAGCAGCAACTGTAGCCTCCTAGACTTGTTCCCGCTTCTCCAAAACTGCGTGCTTAGAATCCCTGAGCTGGAAGAGCGTCCAGAGGGGAAGAGAGGTCTTAAGCATTCCAGACAAATAAAGATCTGTTCCAGCCCTAACAGGCTCCAAGGAGAGATGACTGCAGCTTGTCTGTCATTCATGTCAGGACTCCCCTCAATGCAGCAGCTATAACTATGCTCAGGTCTTCCTGCTGCAGTTCTGGCTCATTTCAGTTCTCACTCCGCCACTTTCGCGCCCTTCACTTTCCCACTCCATCAATTAAATCTTTAATGATAGCTAATCTTGGTGGCTCTTTCACCTATAAGACTGCTGTTTGTAATGAAAATCTGTACCATTCGTTGACACTTTATTATATTCAGTTTATAGACTATTGTCATATATACTAACAAGGGCATACATAGGAACTTCATCTTAACATTTCTCCCATAGCACCTAGCACAGTGCCAATTCTGTTAGAACATAGTAGTTGCTTAGTAAATATTGGATGGGCAGATGGATGGATGAATGGATGGGTGGATAGATGGATAAACTGACAGCAATAAATAAATGAGTAAACTATTAACTGCTCGTAGCCAGGTGTGGTGGTGTGCACTTGTAATCTCACCTACTCGTGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGTCCAAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCAACATGTATGTATAACTATTAACTGATCTCTAAATAATCCATGCAATCATGTTATTTCCTTAGCTAACCTAAAATAAGCTTATAAAGGTAAAGACCATGTCCTGCACATTATTTGTAACCTCAGCACCTAGCCATGCTTAGTACATAGTAGGCTCACAAGAAATGCCTCCTGAGTTAACTAAATTTCCACTCAGGCTGAGCTGGAATGCTGACTGCCCCCCAACCAAGCCTTGTAGCACTTGGTTTGGGCAAGAAGGGAATGCTGGGTAGGATGCAAATCTTCCATGAGGAGCACATGTTGCTTAGCAAATATTGGATGGGTAGGTGGATGGATGAATGGATGGGTGGATAGAAGGATAAACTGACAGCAATAAATAAATGAGTAAACTATTAACTGATAGTTAATAGCCAAGCAGTCCTTACCTTGTCGGGAAGGCAGGTGGTTGTGGTACAGCCACAGTCATTGGTGGCAGTTGAGGCCAAGTACCCAAGGGGACAGCTCACTGTGGAGTTGACACAGTTGCAGGCACACTCATACTCATCACAGCACTGGGTCTTCCGAAGGGTGGGCAAACGGTGCGGGGGGCAGGAGGGTGGGGACACTCTTTTGCACTCCTCCTTCCTGCAGGCTGAGGGTAGGACAAGGCCACACTGAGCACTGCGCCCAGCCAGGGCTCGTAAGTATTCAGCTATGCTATAGGGTGCCAGGGAGCTTTAGACTCAGAAGATTAAGTCAGAAATGTGTGAGGGCCAAGCTCACGGGCTGGGAGTTATTCAATGTTACCAAAAGCAGTCCATCTGCAGAAAAATATGAACATTAATCAAAAAGGGAAATGTGAAGCTAGGAACTCTAATGGAGGAGAAGTGAAGGCTGCTCAATCCCTGCTCTATCACTTTCCCACATACATCTGGAAGGGGCGGGTTCCTTCATTCTCAGAGGTGTCAGATGTAGAATCTCTAAGTCCAGTAGGTCTGGGTACACCACGCCCTGCTAAGCACTGTTCTATGCCAGGAGCTTCTGTGATCCTATCCCCACCTCAGTACCTAGAACAATACCCTACACTTTAGGTCCGCCAGCAATCAGTGTGGAATGAAAGATTGCCAGCAATCTTGTCAAAGCCACAATGTCACTTTTAAAAGACCAAATCCTGTCCCTGTGTCCTTTGCCTGTTTCCAGCTCCCTTCAAACACAATGTGCTCTCCTCCCACCTTGAAGTCTCACATCTAGGAAGTCGGGTGAGTGTCCACATCAGCAGGACAAGAACGCCAACGGAGTTAGAGTGGGGATTCTCGGGAGGTAAATACAGAATTTGGTTTCTTGTCGTGTCTTATTTTAGTCCATCGCTATGTTTAAGTTACAGTATATAGTGATTACATATATACACCTTCAGAGGCGAAAAACTATAAATTTGTTTGGGAATAAGATCCAATGATGAGGGGAAGTCAAGGAAACATTCCCTCCCCTTGATGACATACAGGAGGATGGGCAGAAATAAAGATTAGATTCGGAGGCCTCCTCATCTCAGCCCCAGCTGCTTCTTCATAAACCCAAGACGGAGGTGCCTGTGGCTGTGCCCACACCTGGTATCCTTCAGCAGCGTGCAGCCGGAAGGATTCCGTGCAGGTGTGACCCTAACCCCTCTGTTCCAGATGTACTCCCAACCCAGATTCAGCTAGGTAGAAAACAGGAAATGACGTGATCTTGGAAGAGGTCCCTGAGGAGGATGGCCTCCCTCACACCAGCAGAGAGAGGCCACACCACCCCTCCTCATCCACAGAGGCCTTACCGCAGGTGAAGTTGGGTCTGCACTCGCCAGGGTTGGTCAGTGTGGGCTGGAGGCCACGTTCACAGTGAGGCACTGGGGGCAGGTCACAGCTCACTGGGTCACACACTGAGGGCCAGAAAGAGAGACGTCCATGCAGAGTTCAGAAAGGTTACTCTTTTATTACCTGTGAGTGGGATGCTACATTCCTATTCATGCAGACTTCTACTGTTTTAGGTAAGTGATGATGATGGAGACAGAGATTACATGGGTTAGGATAGATAGATAGATAGATAGATAGATAGATAGAATGATAACTAGATACATGAGATAGATTTGATAGATAGATAGATACATACATACATACATACATACAGGATAGATAACTAGGTACATTAGATAGATAGATAGATAGATGGATGATAGATAGAGGATAGATGATAGATACACAGCTTAGAGAGAGATAGGATAGATGATAAAACATAGGGTAGATAGACAGATAGATATAGAATAGATGATAGATACATATGTTAGACAGAGATAGGATAGATGATAGATACATAGGTTAGATAGAGATAGGATAGATTATAAATAGATACACAGGTTAGATAGATTAGACAGACAGATAGATACATACATAGATATAGGATAGATAACTAGATACAATAGAGATAGATAGATAGATAGATAGATGATAGAGGATAGATGATAAATAGATATATAGCTTAGATAGAGATAGGATAGATGATAGATACATAGGATAGATAGAGACAGGATAGATGATAAATAGATACATAGGTTAGATAGAGATAGGACAGATGATAAATACATAGGATGGATGGATAGATGGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAG
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CTGAGGTAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGAAGAACGAATGAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAGTGAGGGAGGGAGTGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGTGACGTAGGTAGGTAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGTGACGTAGGGAGGGAGGGAGGAGGACAGCTGGACATTATGTGCCTCTGGGTGTGATGCACATGGCACCCTTGATCAGGTATTCTTGCCTCCCTACTGCATTGACCTTGAATGTAATGAATCCCCTGGGTCTAACTTCTAGTCTACTGGAAATACAGGGGATAGAGGAACACATTATGCAATACCATAAGGTGGCTGCTAGTCAAATCCAGAATTCATGACATTCTACAGGACAAATGACCCAGCTTCCCCAACAAATCAAAGGCATAAAAATGGGGAGTGGCATTACTATAGATTAAAGACACACAAGAAACATTAATAGAAAAACAGCAAGGCAGGAGGGGTGGGCAGGAAGACGAGAAGGAGAACAGAGATATAAGAAAGCAGCAGCAGCAACTGTAGCCTCCTAGACTTGTTCCCGCTTCTCCAAAACTGCGTGCTTAGAATCCCTGAGCTGGAAGAGCGTCCAGAGGGGAAGAGAGGTCTTAAGCATTCCAGACAAATAAAGATCTGTTCCAGCCCTAACAGGCTCCAAGGAGAGATGACTGCAGCTTGTCTGTCATTCATGTCAGGACTCCCCTCAATGCAGCAGCTATAACTATGCTCAGGTCTTCCTGCTGCAGTTCTGGCTCATTTCAGTTCTCACTCCGCCACTTTCGCGCCCTTCACTTTCCCACTCCATCAATTAAATCTTTAATGATAGCTAATCTTGGTGGCTCTTTCACCTATAAGACTGCTGTTTGTAATGAAAATCTGTACCATTCGTTGACACTTTATTATATTCAGTTTATAGACTATTGTCATATATACTAACAAGGGCATACATAGGAACTTCATCTTAACATTTCTCCCATAGCACCTAGCACAGTGCCAATTCTGTTAGAACATAGTAGTTGCTTAGTAAATATTGGATGGGCAGATGGATGGATGAATGGATGGGTGGATAGATGGATAAACTGACAGCAATAAATAAATGAGTAAACTATTAACTGCTCGTAGCCAGGTGTGGTGGTGTGCACTTGTAATCTCACCTACTCGTGAGGCAGAGGTGGGAGGATCACTTGAGCCCAGGAGTCCAAGACCAGCCTAGGCAACATAGCAAGACCTCATCTCAACATGTATGTATAACTATTAACTGATCTCTAAATAATCCATGCAATCATGTTATTTCCTTAGCTAACCTAAAATAAGCTTATAAAGGTAAAGACCATGTCCTGCACATTATTTGTAACCTCAGCACCTAGCCATGCTTAGTACATAGTAGGCTCACAAGAAATGCCTCCTGAGTTAACTAAATTTCCACTCAGGCTGAGCTGGAATGCTGACTGCCCCCCAACCAAGCCTTGTAGCACTTGGTTTGGGCAAGAAGGGAATGCTGGGTAGGATGCAAATCTTCCATGAGGAGCACATGTTGCTTAGCAAATATTGGATGGGTAGGTGGATGGATGAATGGATGGGTGGATAGAAGGATAAACTGACAGCAATAAATAAATGAGTAAACTATTAACTGATAGTTAATAGCCAAGCAGTCCTTACCTTGTCGGGAAGGCAGGTGGTTGTGGTACAGCCACAGTCATTGGTGGCAGTTGAGGCCAAGTACCCAAGGGGACAGCTCACTGTGGAGTTGACACAGTTGCAGGCACACTCATACTCATCACAGCACTGGGTCTTCCGAAGGGTGGGCAAACGGTGCGGGGGGCAGGAGGGTGGGGACACTCTTTTGCACTCCTCCTTCCTGAAGGCTGAGGGTAGGACAAGGCCACACTGAGCACTGCGCCCAGCCAGGGCTCGTAAGTATTCAGCTATGCTATAGGGTGCCAGGGAGCTTTAGACTCAGAAGATTAAGTCAGAAATGTGTGAGGGCCAAGCTCACGGGCTGGGAGTTATTCAATGTTACCAAAAGCAGTCCATCTGCAGAAAAATATGAACATTAATCAAAAAGGGAAATGTGAAGCTAGGAACTCTAATGGAGGAGAAGTGAAGGCTGCTCAATCCCTGCTCTATCACTTTCCCACATACATCTGGAAGGGGCGGGTTCCTTCATTCTCAGAGGTGTCAGATGTAGAATCTCTAAGTCCAGTAGGTCTGGGTACACCACGCCCTGCTAAGCACTGTTCTATGCCAGGAGCTTCTGTGATCCTATCCCCACCTCAGTACCTAGAACAATACCCTACACTTTAGGTCCGCCAGCAATCAGTGTGGAATGAAAGATTGCCAGCAATCTTGTCAAAGCCACAATGTCACTTTTAAAAGACCAAATCCTGTCCCTGTGTCCTTTGCCTGTTTCCAGCTCCCTTCAAACACAATGTGCTCTCCTCCCACCTTGAAGTCTCACATCTAGGAAGTCGGGTGAGTGTCCACATCAGCAGGACAAGAACGCCAACGGAGTTAGAGTGGGGATTCTCGGGAGGTAAATACAGAATTTGGTTTCTTGTCGTGTCTTATTTTAGTCCATCGCTATGTTTAAGTTACAGTATATAGTGATTACATATATACACCTTCAGAGGCGAAAAACTATAAATTTGTTTGGGAATAAGATCCAATGATGAGGGGAAGTCAAGGAAACATTCCCTCCCCTTGATGACATACAGGAGGATGGGCAGAAATAAAGATTAGATTCGGAGGCCTCCTCATCTCAGCCCCAGCTGCTTCTTCATAAACCCAAGACGGAGGTGCCTGTGGCTGTGCCCACACCTGGTATCCTTCAGCAGCGTGCAGCCGGAAGGATTCCGTGCAGGTGTGACCCTAACCCCTCTGTTCCAGATGTACTCCCAACCCAGATTCAGCTAGGTAGAAAACAGGAAATGACGTGATCTTGGAAGAGGTCCCTGAGGAGGATGGCCTCCCTCACACCAGCAGAGAGAGGCCACACCACCCCTCCTCATCCACAGAGGCCTTACCGCAGGTGAAGTTGGGTCTGCACTCGCCAGGGTTGGTCAGTGTGGGCTGGAGGCCACGTTCACAGTGAGGCACTGGGGGCAGGTCACAGCTCACTGGGTCACACACTGAGGGCCAGAAAGAGAGACGTCCATGCAGAGTTCAGAAAGGTTACTCTTTTATTACCTGTGAGTGGGATGCTACATTCCTATTCATGCAGACTTCTACTGTTTTAGGTAAGTGATGATGATGGAGACAGAGATTACATGGGTTAGGATAGATAGATAGATAGATAGATAGATAGATAGAATGATAACTAGATACATGAGATAGATTTGATAGATAGATAGATACATACATACATACATACATACAGGATAGATAACTAGGTACATTAGATAGATAGATAGATAGATGGATGATAGATAGAGGATAGATGATAGATACACAGCTTAGAGAGAGATAGGATAGATGATAAAACATAGGGTAGATAGACAGATAGATATAGAATAGATGATAGATACATATGTTAGACAGAGATAGGATAGATGATAGATACATAGGTTAGATAGAGATAGGATAGATTATAAATAGATACACAGGTTAGATAGATTAGACAGACAGATAGATACATACATAGATATAGGATAGATAACTAGATACAATAGAGATAGATAGATAGATAGATAGATGATAGAGGATAGATGATAAATAGATATATAGCTTAGATAGAGATAGGATAGATGATAGATACATAGGATAGATAGAGACAGGATAGATGATAAATAGATACATAGGTTAGATAGAGATAGGACAGATGATAAATACATAGGATGGATGGATAGATGGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAG
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Task1_train_16983
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An alteration has been detected in VWF (von Willebrand factor) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; von Willebrand disease type 1
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ATCTTGGAAGAGGTCCCTGAGGAGGATGGCCTCCCTCACACCAGCAGAGAGAGGCCACACCACCCCTCCTCATCCACAGAGGCCTTACCGCAGGTGAAGTTGGGTCTGCACTCGCCAGGGTTGGTCAGTGTGGGCTGGAGGCCACGTTCACAGTGAGGCACTGGGGGCAGGTCACAGCTCACTGGGTCACACACTGAGGGCCAGAAAGAGAGACGTCCATGCAGAGTTCAGAAAGGTTACTCTTTTATTACCTGTGAGTGGGATGCTACATTCCTATTCATGCAGACTTCTACTGTTTTAGGTAAGTGATGATGATGGAGACAGAGATTACATGGGTTAGGATAGATAGATAGATAGATAGATAGATAGATAGAATGATAACTAGATACATGAGATAGATTTGATAGATAGATAGATACATACATACATACATACATACAGGATAGATAACTAGGTACATTAGATAGATAGATAGATAGATGGATGATAGATAGAGGATAGATGATAGATACACAGCTTAGAGAGAGATAGGATAGATGATAAAACATAGGGTAGATAGACAGATAGATATAGAATAGATGATAGATACATATGTTAGACAGAGATAGGATAGATGATAGATACATAGGTTAGATAGAGATAGGATAGATTATAAATAGATACACAGGTTAGATAGATTAGACAGACAGATAGATACATACATAGATATAGGATAGATAACTAGATACAATAGAGATAGATAGATAGATAGATAGATGATAGAGGATAGATGATAAATAGATATATAGCTTAGATAGAGATAGGATAGATGATAGATACATAGGATAGATAGAGACAGGATAGATGATAAATAGATACATAGGTTAGATAGAGATAGGACAGATGATAAATACATAGGATGGATGGATAGATGGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAGACAGATAGATCAATCCAAGTCACATACTGATTATTCTTATCATCCACTAGGGCTTTCACATCTCAGCCAAGTCAACTTGGATCCTCTAGACCTGTTTCTTCTTCTGGAAGGTGGGAACTCTACCTTATAGGATCAGTCTGAGGAGTTCACAAAATAATAAGGGCAAAGTGCCCGGCACATTGTAGGAGACTAGTAATGTCTATAAAATGAGGGGCTTGAAGTAAATGATCCCTCTAGTTCTCTCTACTGCTAACATTCTAAGACCTCCTTTACATTAATTGTTCTCAAGCCACATCTCCCTCCCCTACAGGACTTCTATTTATTTCTGATCAATTTCATGAGTACAAATAAGTTTCTCCGATTATATGATTTTCTTTTAGTTCCTTGGACTGTCCCCTGATCTATCTGCTCTCCCTTCAATATCTGCATCACTGCAAATTGTACAAGCCTGTGCTTTAGGTCTTCATCTGTACAAGCAATAAACACACTGGACAGGACTGGGACAAAGGCACTAATGATTTCCTGCCATGCTAACCGTAATTCCATCAGCTCTGAATTCACGGACTTATACCATTATTCAGCCCACTATTCACAGAGCAGCCTGCAAGGCTAGCATGAAAACCTCTAGCAAACAACCTGCTGAACTCAAGGTGCCCAGTGTGTGGTCTTCTCTATATCTAGCAGCCTCAAAATCTTATTGAAAATGAAAATGGGTTGCTTTGGCATGACCTTTTCTTCAGTATATCTCCATAGTCCCCAGTAATCACCCCATTCTTGTATTAATCCTGTCAAACCTGTGTTTAGTAATTTACAGTAGATTCTTCTAGGAAGCAAATCCTATTCTCCAGAGGTAACCCTTTCCACTTTTTTGGAGTATCCAGTCGGTCCTTACCCACCTCCTTTCACACACCCTGTGCCTGAGAACAGAGACACCTTTCAGCACCTTCAACGTGGTGCCCCCTGGGGCTAGGGTTGGGCCCTGGAGACATCCCCCTGGTGGGACACATACCACACTCATACTCGGGGCAGCACTGGTCTGCATTCTGGCGGAGGCGGGCTACTTCACACAGGCCACACGTGGGAGCTAGAGGAGAGGAACGGCCACAAAAGTCAGAGAAATTAGTGGTGGGACAGCCTCAGAGGGATTTGAAATGTTCTTGCTCACTGAAAACTAGTAGGAGTTCTGTACGGTCATCCCACAAGGATCCAGGCCACGGGACCTCTGACAGATGAGTGTCCCCATGTTCCTGTTGACACCCTCACATTTACCCTCCAGGGGACTCTTAAGTCTGACCGTTGCTGGGGACCAGAGGCGAGGGTTAATCTGAGAATGTCGACCCCAGGTGCAGAATGGGGCTCCCAGGCCCAGTGATGGGAAATGCAGGCTGGGCAAGGAAGCCCACCCACTCTAGGACTCTAGGTGCCAGTGTTTGAGTCTGCTCTGCCAGAGGTGAAGATGGGTGGCTGGGGGGCCTTGCAGGGGCCCTTGTTCCTCCATGAAGGCACCAGGGAGGGGAGGACTCTCACCTTTGGCCGTGGGGCAGGGCTGCGTTGTGCAGTTGACCTTCCGCCCGCTGAGGCATGTGCAGATCTGACAGGGCTGGTGGTCCGGGACCCAGGCTTCCAGGAACTGAGGGCAAAGCGAGGTTCAGAAAGGGCACAGGACATTCTAGGTACGAAGCCCAGAATTCACAGAGGTCAGCTCTCCCTGCCTCCGGCAAGGGCCAGTCCCTGACCCAGCCCTCTGACAGAGCCTCACAGGCAAACAAAAGCAGGCTGAAAGGAGGTTGTGAGGTTCTAATGGCTTTCAGAAAGGTGGTTGCCACATTGCTTTGTAAACTAACATGCGGAAATTTTCACTACAGCCTTCTCTGTTGGCAGTGCTAAAACCAAGCAAAGAAAGAAAAATGAGAGTTCTTGGATCGCACTGCTAGTCATTTCTCAAGCCAAAGGAGAAATTGGGTTGTTGCTTGGGGAAAAAAATCCATTTATTTCTGAAATTGACTTCAGACAATAGGGTAGGAAGAGCGGTGGGGAGGACAGCAAAACTCTTGAAAGCATCACATTCTTGATGCCCGCAGTGACTTTAGAGGCCTGAGTGCAGTTCTCTGATTTTTCAAATGGGAGACGGCCCAGGGCAGAGAGCAGCCTTCTCGAAGGTACACACAGCCCCACAGCACAAGGCTTTGAAGTCAGGAACTCCTGAACTCTAACAAAGGCTGCATTCCGCTGTGCCTCAGTTTCCTCACCTGTAAAATGAGCGTACTCAAGCCTGCCTTGCAGGACTGTTGTAAGGAGTGAGAAACTGTGATTAGCACAGGGTACACAGCAAAGAGCTCCACTAATAAGAAGCAGAGCCAGGACTCAGTCTCCCTCTGGATTCAGCCATAAAGTTAAATTTAAACTTAAAATTAAATTCAAGTGAAATTGCCCCTGAAGAAACACATTCTTATCCAGTAGCTCAAAGGCCTCTAAGAAGTTCCCAGGTCAAGAAGGTCTTACTTATTACTTCCACAGTCAGCAATCAGTCAGCTAAGAAGGAAGATCAAATACCCACAAGTAAGGCCCCCTTCCCCCAAAGTGCCCTGCCCTCCTTCAGGATTAACCCCTCTGGTCCTGCCCTTGACACCTTTCACTCACTCAATAAATGATAGCAGCTAACATTCAGATGCCACCTGCTGTGTGCCACTGTGTTGAGGACTTTATTTAAATCACTCATGTAATCCTCACTGCAGTCCTACGGTGAGGATATGTTTTACCACTGCCCTCACTTTTCCAATGAGAAAGCTAAGGCACCTGCTAGGTTCCCACAGGCACAGCGACAGAGTGAGGATTTGAATCCAAATCCATGGTTTGTTTCTTTGTTATTTTATGTTTTGGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCGCACTCTCTCGCCTAGACTGCAGTGCAGTGGCATGATCTCGGCTCATTGCAACCTCTGCCTCCCGAGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGTTGGGACTATAGGCATGTGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGGTCTCGAATTCCTGA
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ATCTTGGAAGAGGTCCCTGAGGAGGATGGCCTCCCTCACACCAGCAGAGAGAGGCCACACCACCCCTCCTCATCCACAGAGGCCTTACCGCAGGTGAAGTTGGGTCTGCACTCGCCAGGGTTGGTCAGTGTGGGCTGGAGGCCACGTTCACAGTGAGGCACTGGGGGCAGGTCACAGCTCACTGGGTCACACACTGAGGGCCAGAAAGAGAGACGTCCATGCAGAGTTCAGAAAGGTTACTCTTTTATTACCTGTGAGTGGGATGCTACATTCCTATTCATGCAGACTTCTACTGTTTTAGGTAAGTGATGATGATGGAGACAGAGATTACATGGGTTAGGATAGATAGATAGATAGATAGATAGATAGATAGAATGATAACTAGATACATGAGATAGATTTGATAGATAGATAGATACATACATACATACATACATACAGGATAGATAACTAGGTACATTAGATAGATAGATAGATAGATGGATGATAGATAGAGGATAGATGATAGATACACAGCTTAGAGAGAGATAGGATAGATGATAAAACATAGGGTAGATAGACAGATAGATATAGAATAGATGATAGATACATATGTTAGACAGAGATAGGATAGATGATAGATACATAGGTTAGATAGAGATAGGATAGATTATAAATAGATACACAGGTTAGATAGATTAGACAGACAGATAGATACATACATAGATATAGGATAGATAACTAGATACAATAGAGATAGATAGATAGATAGATAGATGATAGAGGATAGATGATAAATAGATATATAGCTTAGATAGAGATAGGATAGATGATAGATACATAGGATAGATAGAGACAGGATAGATGATAAATAGATACATAGGTTAGATAGAGATAGGACAGATGATAAATACATAGGATGGATGGATAGATGGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAGACAGATAGATCAATCCAAGTCACATACTGATTATTCTTATCATCCACTAGGGCTTTCACATCTCAGCCAAGTCAACTTGGATCCTCTAGACCTGTTTCTTCTTCTGGAAGGTGGGAACTCTACCTTATAGGATCAGTCTGAGGAGTTCACAAAATAATAAGGGCAAAGTGCCCGGCACATTGTAGGAGACTAGTAATGTCTATAAAATGAGGGGCTTGAAGTAAATGATCCCTCTAGTTCTCTCTACTGCTAACATTCTAAGACCTCCTTTACATTAATTGTTCTCAAGCCACATCTCCCTCCCCTACAGGACTTCTATTTATTTCTGATCAATTTCATGAGTACAAATAAGTTTCTCCGATTATATGATTTTCTTTTAGTTCCTTGGACTGTCCCCTGATCTATCTGCTCTCCCTTCAATATCTGCATCACTGCAAATTGTACAAGCCTGTGCTTTAGGTCTTCATCTGTACAAGCAATAAACACACTGGACAGGACTGGGACAAAGGCACTAATGATTTCCTGCCATGCTAACCGTAATTCCATCAGCTCTGAATTCACGGACTTATACCATTATTCAGCCCACTATTCACAGAGCAGCCTGCAAGGCTAGCATGAAAACCTCTAGCAAACAACCTGCTGAACTCAAGGTGCCCAGTGTGTGGTCTTCTCTATATCTAGCAGCCTCAAAATCTTATTGAAAATGAAAATGGGTTGCTTTGGCATGACCTTTTCTTCAGTATATCTCCATAGTCCCCAGTAATCACCCCATTCTTGTATTAATCCTGTCAAACCTGTGTTTAGTAATTTACAGTAGATTCTTCTAGGAAGCAAATCCTATTCTCCAGAGGTAACCCTTTCCACTTTTTTGGAGTATCCAGTCGGTCCTTACCCACCTCCTTTCACACACCCTGTGCCTGAGAACAGAGACACCTTTCAGCACCTTCAACGTGGTGCCCCCTGGGGCTAGGGTTGGGCCCTGGAGACATCCCCCTGGTGGGACACATACCACACTCATACTCGGGGCAGCACTGGTCTGCATTCTGGCGGAGGCGGGCTACTTCACACAGGCCATACGTGGGAGCTAGAGGAGAGGAACGGCCACAAAAGTCAGAGAAATTAGTGGTGGGACAGCCTCAGAGGGATTTGAAATGTTCTTGCTCACTGAAAACTAGTAGGAGTTCTGTACGGTCATCCCACAAGGATCCAGGCCACGGGACCTCTGACAGATGAGTGTCCCCATGTTCCTGTTGACACCCTCACATTTACCCTCCAGGGGACTCTTAAGTCTGACCGTTGCTGGGGACCAGAGGCGAGGGTTAATCTGAGAATGTCGACCCCAGGTGCAGAATGGGGCTCCCAGGCCCAGTGATGGGAAATGCAGGCTGGGCAAGGAAGCCCACCCACTCTAGGACTCTAGGTGCCAGTGTTTGAGTCTGCTCTGCCAGAGGTGAAGATGGGTGGCTGGGGGGCCTTGCAGGGGCCCTTGTTCCTCCATGAAGGCACCAGGGAGGGGAGGACTCTCACCTTTGGCCGTGGGGCAGGGCTGCGTTGTGCAGTTGACCTTCCGCCCGCTGAGGCATGTGCAGATCTGACAGGGCTGGTGGTCCGGGACCCAGGCTTCCAGGAACTGAGGGCAAAGCGAGGTTCAGAAAGGGCACAGGACATTCTAGGTACGAAGCCCAGAATTCACAGAGGTCAGCTCTCCCTGCCTCCGGCAAGGGCCAGTCCCTGACCCAGCCCTCTGACAGAGCCTCACAGGCAAACAAAAGCAGGCTGAAAGGAGGTTGTGAGGTTCTAATGGCTTTCAGAAAGGTGGTTGCCACATTGCTTTGTAAACTAACATGCGGAAATTTTCACTACAGCCTTCTCTGTTGGCAGTGCTAAAACCAAGCAAAGAAAGAAAAATGAGAGTTCTTGGATCGCACTGCTAGTCATTTCTCAAGCCAAAGGAGAAATTGGGTTGTTGCTTGGGGAAAAAAATCCATTTATTTCTGAAATTGACTTCAGACAATAGGGTAGGAAGAGCGGTGGGGAGGACAGCAAAACTCTTGAAAGCATCACATTCTTGATGCCCGCAGTGACTTTAGAGGCCTGAGTGCAGTTCTCTGATTTTTCAAATGGGAGACGGCCCAGGGCAGAGAGCAGCCTTCTCGAAGGTACACACAGCCCCACAGCACAAGGCTTTGAAGTCAGGAACTCCTGAACTCTAACAAAGGCTGCATTCCGCTGTGCCTCAGTTTCCTCACCTGTAAAATGAGCGTACTCAAGCCTGCCTTGCAGGACTGTTGTAAGGAGTGAGAAACTGTGATTAGCACAGGGTACACAGCAAAGAGCTCCACTAATAAGAAGCAGAGCCAGGACTCAGTCTCCCTCTGGATTCAGCCATAAAGTTAAATTTAAACTTAAAATTAAATTCAAGTGAAATTGCCCCTGAAGAAACACATTCTTATCCAGTAGCTCAAAGGCCTCTAAGAAGTTCCCAGGTCAAGAAGGTCTTACTTATTACTTCCACAGTCAGCAATCAGTCAGCTAAGAAGGAAGATCAAATACCCACAAGTAAGGCCCCCTTCCCCCAAAGTGCCCTGCCCTCCTTCAGGATTAACCCCTCTGGTCCTGCCCTTGACACCTTTCACTCACTCAATAAATGATAGCAGCTAACATTCAGATGCCACCTGCTGTGTGCCACTGTGTTGAGGACTTTATTTAAATCACTCATGTAATCCTCACTGCAGTCCTACGGTGAGGATATGTTTTACCACTGCCCTCACTTTTCCAATGAGAAAGCTAAGGCACCTGCTAGGTTCCCACAGGCACAGCGACAGAGTGAGGATTTGAATCCAAATCCATGGTTTGTTTCTTTGTTATTTTATGTTTTGGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCGCACTCTCTCGCCTAGACTGCAGTGCAGTGGCATGATCTCGGCTCATTGCAACCTCTGCCTCCCGAGTTTAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGTTGGGACTATAGGCATGTGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGGTCTCGAATTCCTGA
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Task1_train_16984
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Gene VWF (von Willebrand factor), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; von Willebrand disease type 1
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GCCAAGGAAAAGATCATTTCTGTCTCCTTCTGAGAGCAAGCATTTTGCCACTACTAGTAAAACCGGTCTGAAATTACCACAGGTTTCTAGCCCCATATGTAAATTGGTCCACATCATTCAAGCCCTGCAGGAGCTCAGGAGCTATACAAATCAAGGAGAGGAATATAAGGTTTTGTCAACTCATTTAGGGAATATCACAGAACAGGCAATTACTTAACTTGGCAAGTTGAAATATGGCAGTAGAGTAGGACTTTAGCTCATCTATTCCACGGTGAGGACAAATTGGATCCACTAGGACAAAGCCCAACAACTAAACTAGAGCAGATGAGATCACTATAAGTGACTATAAGTAATAGCCCTAATGGATACCCATGCTCCAATGAACATGAGTTAGCCCAGAGTTCAGCTCACAGTTCCAGTGAGGTCAATGGCAGGGCTAGGACACTATAGGATGACTGATGTTATGAATATAAATCCCAGCTTTATCACCTCATGCCATTGAGCCTCAGTCTCATCCATTCAATAGGATGTGCGATTATGACCCTATAGAGCTTTGGGGAGAATCATATAAAATGGTCCCTATCCTGGCTTATAACATCAGGGACAGAATAGTGTAGTTACTGAAATGTTGTTTTCACTATTCTGCAGGCTGGTTAGCTACATTTACCATGAGTTCTCCTATTCGTGGTTGAACATAGTGGTAAGTCACTCTACTTGGTCCACTTAGCAAGAATGGTCCTCCTTGGCGATGAAGACATTAGGTCTTGAGTGCAGTCCATGATCACAAAACACATTCTCCTTTCCTAGAAGCCAAATATGCTTCTATCTCTACCACGGTCTGTAGTATCACTGTCAAGCATGAAGGACAGGGCCACTGCACACATTCACATGTACACGTTCACATGTGCACAGACACACACTGCCCCAGATCCTACAAATATACACGGGGTCAACTTTGAAGAGAGATGACAGCCATTTTAGGCCAAGACGGAGGAGTCTGGTAAATATGCTTTCAAAATACACTCAATAACTCCCATAGAGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTGATGACTCAGTGACTCCCAAGCAAATCAGCCCAAAAAAGATGCAGCAAAAGGGCCATTTCATATAGTGGAAAGAGCCAGATCTTTGGAGTCACATAGAGCTTCAAATTCTGAGATCAACTCCATTACTTATAAATTGTTTCCATGGGTAACTTACTGAGCTCTTTAGGTCTTAGTTTCTTCATAGGATTTTTGTATTTATGAGTGACACAGGATACAATAATGTATTCTGTGGAATCCCAGTCCCAAGGGATTCTCACACACACACACACACACACACACACACACACACACACGCATGCACACACACGCTCCATGATCAAATAAGTTTGAGAAACAAAAACTCTCTTAAATATCTGCAAGGTACAGTAGTATATTAAAAAGACTAAAGAGTTCTGCAATAAAGAAACCTGTTTAACTATGGTTAGCTGGTGTTCTTTAAACTCACTTGACCACAAGTAACTGTTAATACCCTGCAAAATACACCTTTGAAAAACACTAAGATAATGAATATATTGGGTTTAGCACAATCAAGGTACATAATCTCTCTTAACAATGGCAGACATTATGACACAAAATATTCTTTTCCCTTTCCCTCCTGGATTTCTGTATCATTCTGCTTAAATGACTATAATCATAAAGACAATAGTAATAACAATCATAATAATAATGTGGTAACAACACTTTGATGTTTAATCCCACAGATAATACATGACAGACGCAGGATTTGAACCAAGAGCTATCTGAATGCAAGGCCATTACACAATACTGCCTCCCTATCCCTAATGATCCCCGTAAGAGTCAACCCTGCTGCCACAGTTGGAAGAGGCCAATCACTGGTGAACATATCTCCCTTTTGACCCAAGAGGGAAGCAGCCCCATGGGAAGTGAAAGGCCCAGGCTCCTACCTGGTGCTGGACTCCATCCTCACCAATGCACTGAGTGCAGGCCTCTTCAGGGACACAGCTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGACCACCAGAATGAGGACTATATTTCCCAACCTTTCTTGCAGCTAAGTGTAGTCACATGACTAGTTCTGCCCAATGAACTGTAAAAGAAAGTATAGTATCCCATGGCAGCTTCCAGGAGTCCATTTTAAAAGACAGCTATGCATGCTCCTTGTCCCTCTTCCCTCCTTCCCTCAGCTTCCTCCTTGGAGCATGAATGTGATGGCTAGAACTCCATCTTAGACCATGAAGAAAAAGACCACACCCAACTGAGGGCAGAGCAAGGAACTAGAATCCAGTTTGAGGCCCAGAATCAGCTGGAGCCACCGCCTCCGATCAGTTGTATGACAGAAAATTTTAATTCTCTGCTACTAGCAGCCAAATCTAGTCCTAACAAATGTTGTGAACCTGTGTGTCCTTAGTAGGTTTTGTTGTCCTTTTTTGAATACATATGTCTTTTATGCTTGAAAAGCATCTTTAAATTAGGAATACACAGCTTAGAACTGCCTTGGGAGAGAAGCTACAAGGTGATTCATTTCCCTCGTTCTGATTCGCTCAACAACTTCCTCACATCCTCAAGGCACCAAGGCAGGCAGGTGATGGACGAAGTTTCCAAGGATTTGGAGCACCAAAGATTTCCCTCTGTGTGCACAGTAAATAACCAGGAGGTACACAAAGAAATCAGTATGCAGAGAAAGTGCTTCCAGTAACTTAGAAACTAACATTTGCCCCTTGATTTGCAGGCTGATTGGGAGGAGGCAGTATCATCCACATGGCCTCAGAAAATCAGAGCCCTAAGGAACCTACAGGTTATCTAGGCCAACTATCTCATTCTAGGATGCAGAAACTGAGGTCCAGAAAGACTAAGAGAACAGTCCATCCACCAGCTGAGCTGGGACTAGGATGCCCAAGTCCTCCAGACCCAGCTCAGAGCTGCTGACAGTTCCATGATGATAAACTCTGAGGCTCTAACAGGCATGTACATATTGATTTCCCTCAAAAAAATAGTCGAGGATTATATTTGATGACTGAGGGTTTCAAGTTCAGTATTCTTTTCACTCCAGCACCCCTGAGGGACAGGAGCCATATCTGATTCATTTCAGTTTCCCCTGTACTTTAAATAAATGCCAAGTCCAGGTAGGGAAGCTGACCTTGGGGAGGGGCTGTCTGCACTAGCAATCCTGCAGTGTTTATAACTGAGAAGACTCTTGGCAACCAATGATTCTACTTGCACTTCAAAATCCTGCTCAGGCATGGACTACACTGTAAGTGTGTGCTAAAGCTTGGTGGAATTTCAAATTCAATGTGACTGGTTACACAGCCCTTTACAGATGCCTATATGTGTCTAACACATTAAAATCGCATTTGTCTGAACTATAGAAATACTAATGGAAAGGACCATGCATTAATTTACATAAAAATTCTACGTGCAGAGTGTATGTGTGTATATATATACATATATATGTGTGTGTGTGTGTGTATATATATATATATACACACACACACATATACATATATGTATATGTATATATATATCTTCCATCTTATTTGATCCTAACTGGAATCCCAGGTCATACGAAATACAGGGATTTTCATCCTTATTAGCCAGATAAAGAATCTGGGGCACAGAGAGGCTGAGCAAGCCCAGTTAGCTGGTCTCCAGGATTTTCAGAGGTAACTTGGAGACTCACCACAGAAATCAGGTGTCCTCCAGTCAACGCAGACCCCGTTGGTCCGACAGAGGTGGGCAT
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GCCAAGGAAAAGATCATTTCTGTCTCCTTCTGAGAGCAAGCATTTTGCCACTACTAGTAAAACCGGTCTGAAATTACCACAGGTTTCTAGCCCCATATGTAAATTGGTCCACATCATTCAAGCCCTGCAGGAGCTCAGGAGCTATACAAATCAAGGAGAGGAATATAAGGTTTTGTCAACTCATTTAGGGAATATCACAGAACAGGCAATTACTTAACTTGGCAAGTTGAAATATGGCAGTAGAGTAGGACTTTAGCTCATCTATTCCACGGTGAGGACAAATTGGATCCACTAGGACAAAGCCCAACAACTAAACTAGAGCAGATGAGATCACTATAAGTGACTATAAGTAATAGCCCTAATGGATACCCATGCTCCAATGAACATGAGTTAGCCCAGAGTTCAGCTCACAGTTCCAGTGAGGTCAATGGCAGGGCTAGGACACTATAGGATGACTGATGTTATGAATATAAATCCCAGCTTTATCACCTCATGCCATTGAGCCTCAGTCTCATCCATTCAATAGGATGTGCGATTATGACCCTATAGAGCTTTGGGGAGAATCATATAAAATGGTCCCTATCCTGGCTTATAACATCAGGGACAGAATAGTGTAGTTACTGAAATGTTGTTTTCACTATTCTGCAGGCTGGTTAGCTACATTTACCATGAGTTCTCCTATTCGTGGTTGAACATAGTGGTAAGTCACTCTACTTGGTCCACTTAGCAAGAATGGTCCTCCTTGGCGATGAAGACATTAGGTCTTGAGTGCAGTCCATGATCACAAAACACATTCTCCTTTCCTAGAAGCCAAATATGCTTCTATCTCTACCACGGTCTGTAGTATCACTGTCAAGCATGAAGGACAGGGCCACTGCACACATTCACATGTACACGTTCACATGTGCACAGACACACACTGCCCCAGATCCTACAAATATACACGGGGTCAACTTTGAAGAGAGATGACAGCCATTTTAGGCCAAGACGGAGGAGTCTGGTAAATATGCTTTCAAAATACACTCAATAACTCCCATAGAGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTGATGACTCAGTGACTCCCAAGCAAATCAGCCCAAAAAAGATGCAGCAAAAGGGCCATTTCATATAGTGGAAAGAGCCAGATCTTTGGAGTCACATAGAGCTTCAAATTCTGAGATCAACTCCATTACTTATAAATTGTTTCCATGGGTAACTTACTGAGCTCTTTAGGTCTTAGTTTCTTCATAGGATTTTTGTATTTATGAGTGACACAGGATACAATAATGTATTCTGTGGAATCCCAGTCCCAAGGGATTCTCACACACACACACACACACACACACACACACACACACACGCATGCACACACACGCTCCATGATCAAATAAGTTTGAGAAACAAAAACTCTCTTAAATATCTGCAAGGTACAGTAGTATATTAAAAAGACTAAAGAGTTCTGCAATAAAGAAACCTGTTTAACTATGGTTAGCTGGTGTTCTTTAAACTCACTTGACCACAAGTAACTGTTAATACCCTGCAAAATACACCTTTGAAAAACACTAAGATAATGAATATATTGGGTTTAGCACAATCAAGGTACATAATCTCTCTTAACAATGGCAGACATTATGACACAAAATATTCTTTTCCCTTTCCCTCCTGGATTTCTGTATCATTCTGCTTAAATGACTATAATCATAAAGACAATAGTAATAACAATCATAATAATAATGTGGTAACAACACTTTGATGTTTAATCCCACAGATAATACATGACAGACGCAGGATTTGAACCAAGAGCTATCTGAATGCAAGGCCATTACACAATACTGCCTCCCTATCCCTAATGATCCCCGTAAGAGTCAACCCTGCTGCCACAGTTGGAAGAGGCCAATCACTGGTGAACATATCTCCCTTTTGACCCAAGAGGGAAGCAGCCCCATGGGAAGTGAAAGGCCCAGGCTCCTACCTGGTGCTGGACTCCATCCTCACCAATGCACTGAGTGCAGGCCTCTTCAGGGACATAGCTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGACCACCAGAATGAGGACTATATTTCCCAACCTTTCTTGCAGCTAAGTGTAGTCACATGACTAGTTCTGCCCAATGAACTGTAAAAGAAAGTATAGTATCCCATGGCAGCTTCCAGGAGTCCATTTTAAAAGACAGCTATGCATGCTCCTTGTCCCTCTTCCCTCCTTCCCTCAGCTTCCTCCTTGGAGCATGAATGTGATGGCTAGAACTCCATCTTAGACCATGAAGAAAAAGACCACACCCAACTGAGGGCAGAGCAAGGAACTAGAATCCAGTTTGAGGCCCAGAATCAGCTGGAGCCACCGCCTCCGATCAGTTGTATGACAGAAAATTTTAATTCTCTGCTACTAGCAGCCAAATCTAGTCCTAACAAATGTTGTGAACCTGTGTGTCCTTAGTAGGTTTTGTTGTCCTTTTTTGAATACATATGTCTTTTATGCTTGAAAAGCATCTTTAAATTAGGAATACACAGCTTAGAACTGCCTTGGGAGAGAAGCTACAAGGTGATTCATTTCCCTCGTTCTGATTCGCTCAACAACTTCCTCACATCCTCAAGGCACCAAGGCAGGCAGGTGATGGACGAAGTTTCCAAGGATTTGGAGCACCAAAGATTTCCCTCTGTGTGCACAGTAAATAACCAGGAGGTACACAAAGAAATCAGTATGCAGAGAAAGTGCTTCCAGTAACTTAGAAACTAACATTTGCCCCTTGATTTGCAGGCTGATTGGGAGGAGGCAGTATCATCCACATGGCCTCAGAAAATCAGAGCCCTAAGGAACCTACAGGTTATCTAGGCCAACTATCTCATTCTAGGATGCAGAAACTGAGGTCCAGAAAGACTAAGAGAACAGTCCATCCACCAGCTGAGCTGGGACTAGGATGCCCAAGTCCTCCAGACCCAGCTCAGAGCTGCTGACAGTTCCATGATGATAAACTCTGAGGCTCTAACAGGCATGTACATATTGATTTCCCTCAAAAAAATAGTCGAGGATTATATTTGATGACTGAGGGTTTCAAGTTCAGTATTCTTTTCACTCCAGCACCCCTGAGGGACAGGAGCCATATCTGATTCATTTCAGTTTCCCCTGTACTTTAAATAAATGCCAAGTCCAGGTAGGGAAGCTGACCTTGGGGAGGGGCTGTCTGCACTAGCAATCCTGCAGTGTTTATAACTGAGAAGACTCTTGGCAACCAATGATTCTACTTGCACTTCAAAATCCTGCTCAGGCATGGACTACACTGTAAGTGTGTGCTAAAGCTTGGTGGAATTTCAAATTCAATGTGACTGGTTACACAGCCCTTTACAGATGCCTATATGTGTCTAACACATTAAAATCGCATTTGTCTGAACTATAGAAATACTAATGGAAAGGACCATGCATTAATTTACATAAAAATTCTACGTGCAGAGTGTATGTGTGTATATATATACATATATATGTGTGTGTGTGTGTGTATATATATATATATACACACACACACATATACATATATGTATATGTATATATATATCTTCCATCTTATTTGATCCTAACTGGAATCCCAGGTCATACGAAATACAGGGATTTTCATCCTTATTAGCCAGATAAAGAATCTGGGGCACAGAGAGGCTGAGCAAGCCCAGTTAGCTGGTCTCCAGGATTTTCAGAGGTAACTTGGAGACTCACCACAGAAATCAGGTGTCCTCCAGTCAACGCAGACCCCGTTGGTCCGACAGAGGTGGGCAT
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Task1_train_16985
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The gene VWF (von Willebrand factor) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; von Willebrand disease type 1
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CTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGACCACCAGAATGAGGACTATATTTCCCAACCTTTCTTGCAGCTAAGTGTAGTCACATGACTAGTTCTGCCCAATGAACTGTAAAAGAAAGTATAGTATCCCATGGCAGCTTCCAGGAGTCCATTTTAAAAGACAGCTATGCATGCTCCTTGTCCCTCTTCCCTCCTTCCCTCAGCTTCCTCCTTGGAGCATGAATGTGATGGCTAGAACTCCATCTTAGACCATGAAGAAAAAGACCACACCCAACTGAGGGCAGAGCAAGGAACTAGAATCCAGTTTGAGGCCCAGAATCAGCTGGAGCCACCGCCTCCGATCAGTTGTATGACAGAAAATTTTAATTCTCTGCTACTAGCAGCCAAATCTAGTCCTAACAAATGTTGTGAACCTGTGTGTCCTTAGTAGGTTTTGTTGTCCTTTTTTGAATACATATGTCTTTTATGCTTGAAAAGCATCTTTAAATTAGGAATACACAGCTTAGAACTGCCTTGGGAGAGAAGCTACAAGGTGATTCATTTCCCTCGTTCTGATTCGCTCAACAACTTCCTCACATCCTCAAGGCACCAAGGCAGGCAGGTGATGGACGAAGTTTCCAAGGATTTGGAGCACCAAAGATTTCCCTCTGTGTGCACAGTAAATAACCAGGAGGTACACAAAGAAATCAGTATGCAGAGAAAGTGCTTCCAGTAACTTAGAAACTAACATTTGCCCCTTGATTTGCAGGCTGATTGGGAGGAGGCAGTATCATCCACATGGCCTCAGAAAATCAGAGCCCTAAGGAACCTACAGGTTATCTAGGCCAACTATCTCATTCTAGGATGCAGAAACTGAGGTCCAGAAAGACTAAGAGAACAGTCCATCCACCAGCTGAGCTGGGACTAGGATGCCCAAGTCCTCCAGACCCAGCTCAGAGCTGCTGACAGTTCCATGATGATAAACTCTGAGGCTCTAACAGGCATGTACATATTGATTTCCCTCAAAAAAATAGTCGAGGATTATATTTGATGACTGAGGGTTTCAAGTTCAGTATTCTTTTCACTCCAGCACCCCTGAGGGACAGGAGCCATATCTGATTCATTTCAGTTTCCCCTGTACTTTAAATAAATGCCAAGTCCAGGTAGGGAAGCTGACCTTGGGGAGGGGCTGTCTGCACTAGCAATCCTGCAGTGTTTATAACTGAGAAGACTCTTGGCAACCAATGATTCTACTTGCACTTCAAAATCCTGCTCAGGCATGGACTACACTGTAAGTGTGTGCTAAAGCTTGGTGGAATTTCAAATTCAATGTGACTGGTTACACAGCCCTTTACAGATGCCTATATGTGTCTAACACATTAAAATCGCATTTGTCTGAACTATAGAAATACTAATGGAAAGGACCATGCATTAATTTACATAAAAATTCTACGTGCAGAGTGTATGTGTGTATATATATACATATATATGTGTGTGTGTGTGTGTATATATATATATATACACACACACACATATACATATATGTATATGTATATATATATCTTCCATCTTATTTGATCCTAACTGGAATCCCAGGTCATACGAAATACAGGGATTTTCATCCTTATTAGCCAGATAAAGAATCTGGGGCACAGAGAGGCTGAGCAAGCCCAGTTAGCTGGTCTCCAGGATTTTCAGAGGTAACTTGGAGACTCACCACAGAAATCAGGTGTCCTCCAGTCAACGCAGACCCCGTTGGTCCGACAGAGGTGGGCATAAGAGGCGATCACCTCACACACTTGCTCCTGGTGGCAACTGTCCTGCTGGCAGATGGCATAGAATGTGGCTGGAGCCAGGACCTTGTGGCATTCAGCAAACAGTGGTAAGAGGAGGACCTGGCAGTGGGAGCTGTCGGGGACAAGACACTGCTCCTCCAGGATGGGCTGGCACGTCTGCCCTGGCCGCTGCACAGTCCATTCCTGAACAAGTGTTTTCCAGTCTGTGGTGACTGTGCCATCCCTCAGCATGAAGTCATTGGCTCCGTTCTCATCACAGATCCCTAGAGAAACAAACAAACAAAAAAAAGATAAACTGAGTGGCCCTGGGTACAAAAACATTGATGCCAGAGACAGGCCATTCTTGATCCTCACCAGAATCTGACCCTCGCTACTAGACCCTGAAATATAAGCATCCAAGAGCCTCAGAGTAGAGCAAGTAAGGTTTATAAATGTATAGCAGGGGGAGAAGAGGAGTTGAGAAAATGTTCTTACCACACAGACCATACGTCTTTGAAGCAAAAGTCTTGGGGCTGAGCTGCAGTTGGAACTCATTGTTTTGTGGAGTGAATGTGAAGATGTGACCAAGGTGATTGAATCTGACCTCATGCATGATGGCACCATAAACGTTGACTTCCATGTTCCCACCCACGTAAGGAACAGAGACCAGTCTCCCATTCACCGTCACCTGCACAAAGAAGAAAGAGCTCATCCGTAGTCCTAGCAATGAGGAATCCTAGGTTTTTAGGGAAGTTACCGAGAGTTCCTGCACATTCATCACACTCAACTGCAACATCAGCCACAAACCTTGATATTTGTCGGCAGCTCTTCTAAGATAAAGAAGAGCTTGACTAGAAAACAGAGCTTGACTTTACAGAGCTTGACCAGAAAACAGGCTGTTGTAATACTGTACGGGTGGCCATGCACCAAGAACCTAAAAGCCTGGAGATTAAAAGGAACCTTGAGTCTATGTGACTCAACAGGGAAGGGCAATGCCTTTAAGACAGGCTGGGAAAGTCGCCTTATTGCCAACTCATCAGAGCAGTGTCTCCAAGAGCATCTAGCAGCTGTGTCCAACCCTTTGAATGCAAGGACATTTTTGCTTCTCTGTGGTGGTGGATATCAGAAAATTATGCCCAGACCTTTTTTTTAGCTCATCAGCTATCGTTAGTGTTAATGCATTGTATGTGTGGCCCAAGACAATTCCTCTTCCAGTGTGGCCCAGGGAAGCCAAAAGGTTGGACACTGGTGTTTTAATGGGACCACTTTAAGTCTTCTTTGTGTGTATGTGTGCCACTAGACGCTCTTTCTTGGGCAGCCCCACCATATATCATATCAAACACATTAAAATGTACTCACATTCCACAATGAATATAATTTTGCTGTAAAATTTTTGGAAGGATTTTTTATCATTTTGATTTTTTAATTTTTGGCTATGAGTTACTCACTTGATATATGACTAAGATTTTTCTGCAATTATTGTTCAAATTCAGGAATTCTTGCGAAGTGAGAAAATCTAGCTTACAAGTTGTTTTCACACAATGAAATATTTATGATTTCTACACGAACAAGTAAAGAAGTTGGCATAGTGTAACCTTTTGTAAGCATTTAATCAATCATTTATATATATATATATCAGTTTTGCAGTTTTCTTTTCAAATTTTGGAGCCTGACGTTTTATGTAGGCCTTAAATATTTTCAAAAGACCTAATTTAGGCCATAAATGTTTCCCTTTGGAAAGCTTACAGGGTTTAGGCATTGGACTCATAATACCTTCCGAGTGAACAATCCTGATGCCAATCCCAATTCTCCACCAGTGCCAGAAACTGGCACTAAATTCACAATTTTATGCTATCTAAAAGTGATTCCATCTTGCAAATCTGAGCCCGGAACAACATGAAATCACGCCAAGACAAGGGGATGGCAATAAACCCCTCTAAGAAAGTGGTACTCCTCTCCTCCACTTAAGCAGAAGGCAGAGCTCCTAACAAGAGCATCAACTAAAAGCAACTGCCACCAGGTCCAGGTGGTTTTCCTGACATTCTATTGCCTT
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CTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGACCACCAGAATGAGGACTATATTTCCCAACCTTTCTTGCAGCTAAGTGTAGTCACATGACTAGTTCTGCCCAATGAACTGTAAAAGAAAGTATAGTATCCCATGGCAGCTTCCAGGAGTCCATTTTAAAAGACAGCTATGCATGCTCCTTGTCCCTCTTCCCTCCTTCCCTCAGCTTCCTCCTTGGAGCATGAATGTGATGGCTAGAACTCCATCTTAGACCATGAAGAAAAAGACCACACCCAACTGAGGGCAGAGCAAGGAACTAGAATCCAGTTTGAGGCCCAGAATCAGCTGGAGCCACCGCCTCCGATCAGTTGTATGACAGAAAATTTTAATTCTCTGCTACTAGCAGCCAAATCTAGTCCTAACAAATGTTGTGAACCTGTGTGTCCTTAGTAGGTTTTGTTGTCCTTTTTTGAATACATATGTCTTTTATGCTTGAAAAGCATCTTTAAATTAGGAATACACAGCTTAGAACTGCCTTGGGAGAGAAGCTACAAGGTGATTCATTTCCCTCGTTCTGATTCGCTCAACAACTTCCTCACATCCTCAAGGCACCAAGGCAGGCAGGTGATGGACGAAGTTTCCAAGGATTTGGAGCACCAAAGATTTCCCTCTGTGTGCACAGTAAATAACCAGGAGGTACACAAAGAAATCAGTATGCAGAGAAAGTGCTTCCAGTAACTTAGAAACTAACATTTGCCCCTTGATTTGCAGGCTGATTGGGAGGAGGCAGTATCATCCACATGGCCTCAGAAAATCAGAGCCCTAAGGAACCTACAGGTTATCTAGGCCAACTATCTCATTCTAGGATGCAGAAACTGAGGTCCAGAAAGACTAAGAGAACAGTCCATCCACCAGCTGAGCTGGGACTAGGATGCCCAAGTCCTCCAGACCCAGCTCAGAGCTGCTGACAGTTCCATGATGATAAACTCTGAGGCTCTAACAGGCATGTACATATTGATTTCCCTCAAAAAAATAGTCGAGGATTATATTTGATGACTGAGGGTTTCAAGTTCAGTATTCTTTTCACTCCAGCACCCCTGAGGGACAGGAGCCATATCTGATTCATTTCAGTTTCCCCTGTACTTTAAATAAATGCCAAGTCCAGGTAGGGAAGCTGACCTTGGGGAGGGGCTGTCTGCACTAGCAATCCTGCAGTGTTTATAACTGAGAAGACTCTTGGCAACCAATGATTCTACTTGCACTTCAAAATCCTGCTCAGGCATGGACTACACTGTAAGTGTGTGCTAAAGCTTGGTGGAATTTCAAATTCAATGTGACTGGTTACACAGCCCTTTACAGATGCCTATATGTGTCTAACACATTAAAATCGCATTTGTCTGAACTATAGAAATACTAATGGAAAGGACCATGCATTAATTTACATAAAAATTCTACGTGCAGAGTGTATGTGTGTATATATATACATATATATGTGTGTGTGTGTGTGTATATATATATATATACACACACACACATATACATATATGTATATGTATATATATATCTTCCATCTTATTTGATCCTAACTGGAATCCCAGGTCATACGAAATACAGGGATTTTCATCCTTATTAGCCAGATAAAGAATCTGGGGCACAGAGAGGCTGAGCAAGCCCAGTTAGCTGGTCTCCAGGATTTTCAGAGGTAACTTGGAGACTCACCACAGAAATCAGGTGTCCTCCAGTCAACGCAGACCCCGTTGGTCCGACAGAGGTGGGCATAAGGGGCGATCACCTCACACACTTGCTCCTGGTGGCAACTGTCCTGCTGGCAGATGGCATAGAATGTGGCTGGAGCCAGGACCTTGTGGCATTCAGCAAACAGTGGTAAGAGGAGGACCTGGCAGTGGGAGCTGTCGGGGACAAGACACTGCTCCTCCAGGATGGGCTGGCACGTCTGCCCTGGCCGCTGCACAGTCCATTCCTGAACAAGTGTTTTCCAGTCTGTGGTGACTGTGCCATCCCTCAGCATGAAGTCATTGGCTCCGTTCTCATCACAGATCCCTAGAGAAACAAACAAACAAAAAAAAGATAAACTGAGTGGCCCTGGGTACAAAAACATTGATGCCAGAGACAGGCCATTCTTGATCCTCACCAGAATCTGACCCTCGCTACTAGACCCTGAAATATAAGCATCCAAGAGCCTCAGAGTAGAGCAAGTAAGGTTTATAAATGTATAGCAGGGGGAGAAGAGGAGTTGAGAAAATGTTCTTACCACACAGACCATACGTCTTTGAAGCAAAAGTCTTGGGGCTGAGCTGCAGTTGGAACTCATTGTTTTGTGGAGTGAATGTGAAGATGTGACCAAGGTGATTGAATCTGACCTCATGCATGATGGCACCATAAACGTTGACTTCCATGTTCCCACCCACGTAAGGAACAGAGACCAGTCTCCCATTCACCGTCACCTGCACAAAGAAGAAAGAGCTCATCCGTAGTCCTAGCAATGAGGAATCCTAGGTTTTTAGGGAAGTTACCGAGAGTTCCTGCACATTCATCACACTCAACTGCAACATCAGCCACAAACCTTGATATTTGTCGGCAGCTCTTCTAAGATAAAGAAGAGCTTGACTAGAAAACAGAGCTTGACTTTACAGAGCTTGACCAGAAAACAGGCTGTTGTAATACTGTACGGGTGGCCATGCACCAAGAACCTAAAAGCCTGGAGATTAAAAGGAACCTTGAGTCTATGTGACTCAACAGGGAAGGGCAATGCCTTTAAGACAGGCTGGGAAAGTCGCCTTATTGCCAACTCATCAGAGCAGTGTCTCCAAGAGCATCTAGCAGCTGTGTCCAACCCTTTGAATGCAAGGACATTTTTGCTTCTCTGTGGTGGTGGATATCAGAAAATTATGCCCAGACCTTTTTTTTAGCTCATCAGCTATCGTTAGTGTTAATGCATTGTATGTGTGGCCCAAGACAATTCCTCTTCCAGTGTGGCCCAGGGAAGCCAAAAGGTTGGACACTGGTGTTTTAATGGGACCACTTTAAGTCTTCTTTGTGTGTATGTGTGCCACTAGACGCTCTTTCTTGGGCAGCCCCACCATATATCATATCAAACACATTAAAATGTACTCACATTCCACAATGAATATAATTTTGCTGTAAAATTTTTGGAAGGATTTTTTATCATTTTGATTTTTTAATTTTTGGCTATGAGTTACTCACTTGATATATGACTAAGATTTTTCTGCAATTATTGTTCAAATTCAGGAATTCTTGCGAAGTGAGAAAATCTAGCTTACAAGTTGTTTTCACACAATGAAATATTTATGATTTCTACACGAACAAGTAAAGAAGTTGGCATAGTGTAACCTTTTGTAAGCATTTAATCAATCATTTATATATATATATATCAGTTTTGCAGTTTTCTTTTCAAATTTTGGAGCCTGACGTTTTATGTAGGCCTTAAATATTTTCAAAAGACCTAATTTAGGCCATAAATGTTTCCCTTTGGAAAGCTTACAGGGTTTAGGCATTGGACTCATAATACCTTCCGAGTGAACAATCCTGATGCCAATCCCAATTCTCCACCAGTGCCAGAAACTGGCACTAAATTCACAATTTTATGCTATCTAAAAGTGATTCCATCTTGCAAATCTGAGCCCGGAACAACATGAAATCACGCCAAGACAAGGGGATGGCAATAAACCCCTCTAAGAAAGTGGTACTCCTCTCCTCCACTTAAGCAGAAGGCAGAGCTCCTAACAAGAGCATCAACTAAAAGCAACTGCCACCAGGTCCAGGTGGTTTTCCTGACATTCTATTGCCTT
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Task1_train_16986
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A sequence alteration has been identified in VWF (von Willebrand factor) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; von Willebrand disease type 3
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CTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGACCACCAGAATGAGGACTATATTTCCCAACCTTTCTTGCAGCTAAGTGTAGTCACATGACTAGTTCTGCCCAATGAACTGTAAAAGAAAGTATAGTATCCCATGGCAGCTTCCAGGAGTCCATTTTAAAAGACAGCTATGCATGCTCCTTGTCCCTCTTCCCTCCTTCCCTCAGCTTCCTCCTTGGAGCATGAATGTGATGGCTAGAACTCCATCTTAGACCATGAAGAAAAAGACCACACCCAACTGAGGGCAGAGCAAGGAACTAGAATCCAGTTTGAGGCCCAGAATCAGCTGGAGCCACCGCCTCCGATCAGTTGTATGACAGAAAATTTTAATTCTCTGCTACTAGCAGCCAAATCTAGTCCTAACAAATGTTGTGAACCTGTGTGTCCTTAGTAGGTTTTGTTGTCCTTTTTTGAATACATATGTCTTTTATGCTTGAAAAGCATCTTTAAATTAGGAATACACAGCTTAGAACTGCCTTGGGAGAGAAGCTACAAGGTGATTCATTTCCCTCGTTCTGATTCGCTCAACAACTTCCTCACATCCTCAAGGCACCAAGGCAGGCAGGTGATGGACGAAGTTTCCAAGGATTTGGAGCACCAAAGATTTCCCTCTGTGTGCACAGTAAATAACCAGGAGGTACACAAAGAAATCAGTATGCAGAGAAAGTGCTTCCAGTAACTTAGAAACTAACATTTGCCCCTTGATTTGCAGGCTGATTGGGAGGAGGCAGTATCATCCACATGGCCTCAGAAAATCAGAGCCCTAAGGAACCTACAGGTTATCTAGGCCAACTATCTCATTCTAGGATGCAGAAACTGAGGTCCAGAAAGACTAAGAGAACAGTCCATCCACCAGCTGAGCTGGGACTAGGATGCCCAAGTCCTCCAGACCCAGCTCAGAGCTGCTGACAGTTCCATGATGATAAACTCTGAGGCTCTAACAGGCATGTACATATTGATTTCCCTCAAAAAAATAGTCGAGGATTATATTTGATGACTGAGGGTTTCAAGTTCAGTATTCTTTTCACTCCAGCACCCCTGAGGGACAGGAGCCATATCTGATTCATTTCAGTTTCCCCTGTACTTTAAATAAATGCCAAGTCCAGGTAGGGAAGCTGACCTTGGGGAGGGGCTGTCTGCACTAGCAATCCTGCAGTGTTTATAACTGAGAAGACTCTTGGCAACCAATGATTCTACTTGCACTTCAAAATCCTGCTCAGGCATGGACTACACTGTAAGTGTGTGCTAAAGCTTGGTGGAATTTCAAATTCAATGTGACTGGTTACACAGCCCTTTACAGATGCCTATATGTGTCTAACACATTAAAATCGCATTTGTCTGAACTATAGAAATACTAATGGAAAGGACCATGCATTAATTTACATAAAAATTCTACGTGCAGAGTGTATGTGTGTATATATATACATATATATGTGTGTGTGTGTGTGTATATATATATATATACACACACACACATATACATATATGTATATGTATATATATATCTTCCATCTTATTTGATCCTAACTGGAATCCCAGGTCATACGAAATACAGGGATTTTCATCCTTATTAGCCAGATAAAGAATCTGGGGCACAGAGAGGCTGAGCAAGCCCAGTTAGCTGGTCTCCAGGATTTTCAGAGGTAACTTGGAGACTCACCACAGAAATCAGGTGTCCTCCAGTCAACGCAGACCCCGTTGGTCCGACAGAGGTGGGCATAAGAGGCGATCACCTCACACACTTGCTCCTGGTGGCAACTGTCCTGCTGGCAGATGGCATAGAATGTGGCTGGAGCCAGGACCTTGTGGCATTCAGCAAACAGTGGTAAGAGGAGGACCTGGCAGTGGGAGCTGTCGGGGACAAGACACTGCTCCTCCAGGATGGGCTGGCACGTCTGCCCTGGCCGCTGCACAGTCCATTCCTGAACAAGTGTTTTCCAGTCTGTGGTGACTGTGCCATCCCTCAGCATGAAGTCATTGGCTCCGTTCTCATCACAGATCCCTAGAGAAACAAACAAACAAAAAAAAGATAAACTGAGTGGCCCTGGGTACAAAAACATTGATGCCAGAGACAGGCCATTCTTGATCCTCACCAGAATCTGACCCTCGCTACTAGACCCTGAAATATAAGCATCCAAGAGCCTCAGAGTAGAGCAAGTAAGGTTTATAAATGTATAGCAGGGGGAGAAGAGGAGTTGAGAAAATGTTCTTACCACACAGACCATACGTCTTTGAAGCAAAAGTCTTGGGGCTGAGCTGCAGTTGGAACTCATTGTTTTGTGGAGTGAATGTGAAGATGTGACCAAGGTGATTGAATCTGACCTCATGCATGATGGCACCATAAACGTTGACTTCCATGTTCCCACCCACGTAAGGAACAGAGACCAGTCTCCCATTCACCGTCACCTGCACAAAGAAGAAAGAGCTCATCCGTAGTCCTAGCAATGAGGAATCCTAGGTTTTTAGGGAAGTTACCGAGAGTTCCTGCACATTCATCACACTCAACTGCAACATCAGCCACAAACCTTGATATTTGTCGGCAGCTCTTCTAAGATAAAGAAGAGCTTGACTAGAAAACAGAGCTTGACTTTACAGAGCTTGACCAGAAAACAGGCTGTTGTAATACTGTACGGGTGGCCATGCACCAAGAACCTAAAAGCCTGGAGATTAAAAGGAACCTTGAGTCTATGTGACTCAACAGGGAAGGGCAATGCCTTTAAGACAGGCTGGGAAAGTCGCCTTATTGCCAACTCATCAGAGCAGTGTCTCCAAGAGCATCTAGCAGCTGTGTCCAACCCTTTGAATGCAAGGACATTTTTGCTTCTCTGTGGTGGTGGATATCAGAAAATTATGCCCAGACCTTTTTTTTAGCTCATCAGCTATCGTTAGTGTTAATGCATTGTATGTGTGGCCCAAGACAATTCCTCTTCCAGTGTGGCCCAGGGAAGCCAAAAGGTTGGACACTGGTGTTTTAATGGGACCACTTTAAGTCTTCTTTGTGTGTATGTGTGCCACTAGACGCTCTTTCTTGGGCAGCCCCACCATATATCATATCAAACACATTAAAATGTACTCACATTCCACAATGAATATAATTTTGCTGTAAAATTTTTGGAAGGATTTTTTATCATTTTGATTTTTTAATTTTTGGCTATGAGTTACTCACTTGATATATGACTAAGATTTTTCTGCAATTATTGTTCAAATTCAGGAATTCTTGCGAAGTGAGAAAATCTAGCTTACAAGTTGTTTTCACACAATGAAATATTTATGATTTCTACACGAACAAGTAAAGAAGTTGGCATAGTGTAACCTTTTGTAAGCATTTAATCAATCATTTATATATATATATATCAGTTTTGCAGTTTTCTTTTCAAATTTTGGAGCCTGACGTTTTATGTAGGCCTTAAATATTTTCAAAAGACCTAATTTAGGCCATAAATGTTTCCCTTTGGAAAGCTTACAGGGTTTAGGCATTGGACTCATAATACCTTCCGAGTGAACAATCCTGATGCCAATCCCAATTCTCCACCAGTGCCAGAAACTGGCACTAAATTCACAATTTTATGCTATCTAAAAGTGATTCCATCTTGCAAATCTGAGCCCGGAACAACATGAAATCACGCCAAGACAAGGGGATGGCAATAAACCCCTCTAAGAAAGTGGTACTCCTCTCCTCCACTTAAGCAGAAGGCAGAGCTCCTAACAAGAGCATCAACTAAAAGCAACTGCCACCAGGTCCAGGTGGTTTTCCTGACATTCTATTGCCTT
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CTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGACCACCAGAATGAGGACTATATTTCCCAACCTTTCTTGCAGCTAAGTGTAGTCACATGACTAGTTCTGCCCAATGAACTGTAAAAGAAAGTATAGTATCCCATGGCAGCTTCCAGGAGTCCATTTTAAAAGACAGCTATGCATGCTCCTTGTCCCTCTTCCCTCCTTCCCTCAGCTTCCTCCTTGGAGCATGAATGTGATGGCTAGAACTCCATCTTAGACCATGAAGAAAAAGACCACACCCAACTGAGGGCAGAGCAAGGAACTAGAATCCAGTTTGAGGCCCAGAATCAGCTGGAGCCACCGCCTCCGATCAGTTGTATGACAGAAAATTTTAATTCTCTGCTACTAGCAGCCAAATCTAGTCCTAACAAATGTTGTGAACCTGTGTGTCCTTAGTAGGTTTTGTTGTCCTTTTTTGAATACATATGTCTTTTATGCTTGAAAAGCATCTTTAAATTAGGAATACACAGCTTAGAACTGCCTTGGGAGAGAAGCTACAAGGTGATTCATTTCCCTCGTTCTGATTCGCTCAACAACTTCCTCACATCCTCAAGGCACCAAGGCAGGCAGGTGATGGACGAAGTTTCCAAGGATTTGGAGCACCAAAGATTTCCCTCTGTGTGCACAGTAAATAACCAGGAGGTACACAAAGAAATCAGTATGCAGAGAAAGTGCTTCCAGTAACTTAGAAACTAACATTTGCCCCTTGATTTGCAGGCTGATTGGGAGGAGGCAGTATCATCCACATGGCCTCAGAAAATCAGAGCCCTAAGGAACCTACAGGTTATCTAGGCCAACTATCTCATTCTAGGATGCAGAAACTGAGGTCCAGAAAGACTAAGAGAACAGTCCATCCACCAGCTGAGCTGGGACTAGGATGCCCAAGTCCTCCAGACCCAGCTCAGAGCTGCTGACAGTTCCATGATGATAAACTCTGAGGCTCTAACAGGCATGTACATATTGATTTCCCTCAAAAAAATAGTCGAGGATTATATTTGATGACTGAGGGTTTCAAGTTCAGTATTCTTTTCACTCCAGCACCCCTGAGGGACAGGAGCCATATCTGATTCATTTCAGTTTCCCCTGTACTTTAAATAAATGCCAAGTCCAGGTAGGGAAGCTGACCTTGGGGAGGGGCTGTCTGCACTAGCAATCCTGCAGTGTTTATAACTGAGAAGACTCTTGGCAACCAATGATTCTACTTGCACTTCAAAATCCTGCTCAGGCATGGACTACACTGTAAGTGTGTGCTAAAGCTTGGTGGAATTTCAAATTCAATGTGACTGGTTACACAGCCCTTTACAGATGCCTATATGTGTCTAACACATTAAAATCGCATTTGTCTGAACTATAGAAATACTAATGGAAAGGACCATGCATTAATTTACATAAAAATTCTACGTGCAGAGTGTATGTGTGTATATATATACATATATATGTGTGTGTGTGTGTGTATATATATATATATACACACACACACATATACATATATGTATATGTATATATATATCTTCCATCTTATTTGATCCTAACTGGAATCCCAGGTCATACGAAATACAGGGATTTTCATCCTTATTAGCCAGATAAAGAATCTGGGGCACAGAGAGGCTGAGCAAGCCCAGTTAGCTGGTCTCCAGGATTTTCAGAGGTAACTTGGAGACTCACCACAGAAATCAGGTGTCCTCCAGTCAACGCAGACCCCGTTGGTCCGACAGAGGTGGGCATAAGGGGCGATCACCTCACACACTTGCTCCTGGTGGCAACTGTCCTGCTGGCAGATGGCATAGAATGTGGCTGGAGCCAGGACCTTGTGGCATTCAGCAAACAGTGGTAAGAGGAGGACCTGGCAGTGGGAGCTGTCGGGGACAAGACACTGCTCCTCCAGGATGGGCTGGCACGTCTGCCCTGGCCGCTGCACAGTCCATTCCTGAACAAGTGTTTTCCAGTCTGTGGTGACTGTGCCATCCCTCAGCATGAAGTCATTGGCTCCGTTCTCATCACAGATCCCTAGAGAAACAAACAAACAAAAAAAAGATAAACTGAGTGGCCCTGGGTACAAAAACATTGATGCCAGAGACAGGCCATTCTTGATCCTCACCAGAATCTGACCCTCGCTACTAGACCCTGAAATATAAGCATCCAAGAGCCTCAGAGTAGAGCAAGTAAGGTTTATAAATGTATAGCAGGGGGAGAAGAGGAGTTGAGAAAATGTTCTTACCACACAGACCATACGTCTTTGAAGCAAAAGTCTTGGGGCTGAGCTGCAGTTGGAACTCATTGTTTTGTGGAGTGAATGTGAAGATGTGACCAAGGTGATTGAATCTGACCTCATGCATGATGGCACCATAAACGTTGACTTCCATGTTCCCACCCACGTAAGGAACAGAGACCAGTCTCCCATTCACCGTCACCTGCACAAAGAAGAAAGAGCTCATCCGTAGTCCTAGCAATGAGGAATCCTAGGTTTTTAGGGAAGTTACCGAGAGTTCCTGCACATTCATCACACTCAACTGCAACATCAGCCACAAACCTTGATATTTGTCGGCAGCTCTTCTAAGATAAAGAAGAGCTTGACTAGAAAACAGAGCTTGACTTTACAGAGCTTGACCAGAAAACAGGCTGTTGTAATACTGTACGGGTGGCCATGCACCAAGAACCTAAAAGCCTGGAGATTAAAAGGAACCTTGAGTCTATGTGACTCAACAGGGAAGGGCAATGCCTTTAAGACAGGCTGGGAAAGTCGCCTTATTGCCAACTCATCAGAGCAGTGTCTCCAAGAGCATCTAGCAGCTGTGTCCAACCCTTTGAATGCAAGGACATTTTTGCTTCTCTGTGGTGGTGGATATCAGAAAATTATGCCCAGACCTTTTTTTTAGCTCATCAGCTATCGTTAGTGTTAATGCATTGTATGTGTGGCCCAAGACAATTCCTCTTCCAGTGTGGCCCAGGGAAGCCAAAAGGTTGGACACTGGTGTTTTAATGGGACCACTTTAAGTCTTCTTTGTGTGTATGTGTGCCACTAGACGCTCTTTCTTGGGCAGCCCCACCATATATCATATCAAACACATTAAAATGTACTCACATTCCACAATGAATATAATTTTGCTGTAAAATTTTTGGAAGGATTTTTTATCATTTTGATTTTTTAATTTTTGGCTATGAGTTACTCACTTGATATATGACTAAGATTTTTCTGCAATTATTGTTCAAATTCAGGAATTCTTGCGAAGTGAGAAAATCTAGCTTACAAGTTGTTTTCACACAATGAAATATTTATGATTTCTACACGAACAAGTAAAGAAGTTGGCATAGTGTAACCTTTTGTAAGCATTTAATCAATCATTTATATATATATATATCAGTTTTGCAGTTTTCTTTTCAAATTTTGGAGCCTGACGTTTTATGTAGGCCTTAAATATTTTCAAAAGACCTAATTTAGGCCATAAATGTTTCCCTTTGGAAAGCTTACAGGGTTTAGGCATTGGACTCATAATACCTTCCGAGTGAACAATCCTGATGCCAATCCCAATTCTCCACCAGTGCCAGAAACTGGCACTAAATTCACAATTTTATGCTATCTAAAAGTGATTCCATCTTGCAAATCTGAGCCCGGAACAACATGAAATCACGCCAAGACAAGGGGATGGCAATAAACCCCTCTAAGAAAGTGGTACTCCTCTCCTCCACTTAAGCAGAAGGCAGAGCTCCTAACAAGAGCATCAACTAAAAGCAACTGCCACCAGGTCCAGGTGGTTTTCCTGACATTCTATTGCCTT
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Task1_train_16987
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A genetic alteration is present in VWF (von Willebrand factor) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; von Willebrand disease type 1
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TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATAGAAGCAAAAAGCAGAATGGTGGTTGCGGGGGCTAGGGGAAGGGGAAAATGGGAAGTTGCTGTTCAGTGGGCATAGTTTCAGTCACACAAAACAAAAACTTCTAGAGATCTGCTGTACAACAACTTGCAAATAGCTAACAATATGGTATTGTACACTGGAAAATTTATTAATAGGGTAGATCTCATGTGTTTCTTATCACAACTTTTCTAATGGGAAAATGGGGAAAGGCATGAGCAGAAAATTCACAAAATTAGACCAAAAAATGGCAATTAAACATATGATAAAATGTTTAACCTCACTCATCATTAGAGAAATGAATTTCAAGTACACTGAGATACTATTTCTTTCCTGAAAAGTAAGAAATTTGCAAAAAAAATAAATAAAAACTGTAACAACACACTCAGCAAGGCCGTGGAGATGCATGCACTCTCATACCTCGCTGATCGAAAACCAAACTGATGGACATTCCAGTTTTGCACAACCACATCTCACCTGTTAGAGGAGAATCTGGGAATGTCTAAGGGGAACTTCATATGCACTTATCTTTTGACCCAAGAATCTCACTTCTAGGAATCTACCCTGAAGACACACCTCCAACCATATGAAAATTCGTTCGTATGTTCAGGTTTACTCATTGCAGCATTGCTTGTCATTACAAAACACTGGAAACAGCCTAAACGCACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTCTTTGAAATGACATCGAGTAATTTCCAGGATATGCTTTTAATCACAAAAGGCAAAGCTCTTTGTACAGAGGAAAGCTGACCATACCCTCCTTCCCAGAGGCAGGCAGCCTAAATTGGAACTGGGAGGTGTTTTAACTCTAATCAAATTCAAAGTTTTGATTATTACGCAAGAGTGGGTATCTAGTTATCAACTGAGACTTTGTCTTCTGACAAAGTAACTATAGAATTCTTTATGAATAAACAGAAGAAACCTAAAGTCTGGTGGAGTTTTCACCTAGACCAAGAGGGAAATTTATCTCACTAAATAAATTCTAAAGGGGGAATGAGCTATAAATACAGTTTTGATTGCATCCCACCAGTTATGCCTGTTCAGCATAAAGGTTACAATCCACTGCTGAGTCATGGTCACCATAAGCAGTCATTGCTCCCAAACATGAGACAGAAGGCTAACCCAGCCCATGGATGACATGCTCTCCACAAGTGTACATGAGATGGACTTTAAATATTTCCTCCTCTTAATCCAGGCCGCCTTGGTGATGTACTGTTGCTATAGGTGTGGTTGGAGAGTTTTCTGGAAGCGTCTCTCTCACTGCTATACTTCCACTGCTATACCCTGAATACACAGATTCCTAAAGGTTGACTTGCCAACAGCCAAGCTGAGCATTGACCTCAGAAAAGCAATTCTTCCTTCCAGTTATGCATAATCTGGGGAAGTGCCTTCCAAAGACAGAGAAAGAGGGCAGTGATCCCTGAGACTGGCTGCATGCATGTCCAAAGAGCACAGGAGGAAAGGAAGGTGAGTGAAGGTAGCACTGTGCATGTGGTGATGAGGGAAAGGGTACTTCTGGGCTGGTGGGTGCCTGCTCTACTTTTCTGCACAGCCAAGCTAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAAATTCTGAACCATTCACAATGTCTGCTTAAGCAACCTGGTCTAGTTTTTGAAGTCAACTCAACTCTGAAAAGAATCTGAACAAGGTTAACAGTGGAGACATAGGGACATGAGGCTGAGGTGGTCATCCTGTGGTTCTTCAGACATGCTCTGCAGTTATTAATAATTATGATGCCAACAACAGCGATAATATGGCAATAACTACAGCTTACGCTGTCATTATCTTGGTTCACATGTAGATCACGCCAGGGATGGGGAAGGTGGGGAGATGAAGCAAGATCCTGGAAACCTGAAAGAGATCTACTTGAAGATTCCTACCAGGAGAGCTGCCATCTCTCTGTACAGCTAATGTTATTAGCTATAAGTCAAAACTTGCATAGAGTTATTGCCCTTTAAGGGCAAACTTGCATTGACTTATTCCCCCGAAGGACAGTAGCTTTATGCAGGTTTTGACTTACATCTAGTAACGGGAAAATATACAAACCCAGGCCCCCGCCACAAAAAAAGCGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGTACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCTGGCCAAAAGCATATTTTTTAAGTTTCTAACCTAAAATCAACTTAAACTATGGTACTTTGATATGAGTCTCCGTGTTATCGTATTTCTAAAGCCCTTTATACCCATGTTGAGAGTTAGTCTAGGCCCATGGGGAAGAAGACTATACCTACGGAACGCTGGGGTTCCTTGCTTATGTCTTCTGATTCTTTTGTCCAAGATCCCTCTACACAAATAAGCTTAGGCTCTCTCTGCCAAGTTCACATGGACAATTAGAGTGGAAATAGGACCATACACAGAAAGCTTTCTGCTGGCCCCATGGGGGCTTGTGGTATACACCTCCCATGAACAGAAACTTAAAGGTCCTGGTCTATATAATAATCTTCATTCAAGGCCAAATCTTATGCATGGGCACCCTGGGGTCTCTTGAATACTATTTTTGTTTCTTTGGCGGGTTTATTTTGGAACTTTTTTTTGAGGGAAGTAAGAAAGGTATTATAAGACTCACCAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGATTCGCTGGAGCTTCACCACGTTGGAGTCGCCTGCTGGGCCTGCCAAGATCCGTAGCTGGGCTGCATCGTAGCGATCTCCAATTCCAATAGGGAACACTGTCACTCCTAGAGTTAGCAAAGAGACAAGAAAGGATCTGTGGGCAAGAAGGCTCAAAATGGACTGGCCTGACGTT
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TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATAGAAGCAAAAAGCAGAATGGTGGTTGCGGGGGCTAGGGGAAGGGGAAAATGGGAAGTTGCTGTTCAGTGGGCATAGTTTCAGTCACACAAAACAAAAACTTCTAGAGATCTGCTGTACAACAACTTGCAAATAGCTAACAATATGGTATTGTACACTGGAAAATTTATTAATAGGGTAGATCTCATGTGTTTCTTATCACAACTTTTCTAATGGGAAAATGGGGAAAGGCATGAGCAGAAAATTCACAAAATTAGACCAAAAAATGGCAATTAAACATATGATAAAATGTTTAACCTCACTCATCATTAGAGAAATGAATTTCAAGTACACTGAGATACTATTTCTTTCCTGAAAAGTAAGAAATTTGCAAAAAAAATAAATAAAAACTGTAACAACACACTCAGCAAGGCCGTGGAGATGCATGCACTCTCATACCTCGCTGATCGAAAACCAAACTGATGGACATTCCAGTTTTGCACAACCACATCTCACCTGTTAGAGGAGAATCTGGGAATGTCTAAGGGGAACTTCATATGCACTTATCTTTTGACCCAAGAATCTCACTTCTAGGAATCTACCCTGAAGACACACCTCCAACCATATGAAAATTCGTTCGTATGTTCAGGTTTACTCATTGCAGCATTGCTTGTCATTACAAAACACTGGAAACAGCCTAAACGCACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTCTTTGAAATGACATCGAGTAATTTCCAGGATATGCTTTTAATCACAAAAGGCAAAGCTCTTTGTACAGAGGAAAGCTGACCATACCCTCCTTCCCAGAGGCAGGCAGCCTAAATTGGAACTGGGAGGTGTTTTAACTCTAATCAAATTCAAAGTTTTGATTATTACGCAAGAGTGGGTATCTAGTTATCAACTGAGACTTTGTCTTCTGACAAAGTAACTATAGAATTCTTTATGAATAAACAGAAGAAACCTAAAGTCTGGTGGAGTTTTCACCTAGACCAAGAGGGAAATTTATCTCACTAAATAAATTCTAAAGGGGGAATGAGCTATAAATACAGTTTTGATTGCATCCCACCAGTTATGCCTGTTCAGCATAAAGGTTACAATCCACTGCTGAGTCATGGTCACCATAAGCAGTCATTGCTCCCAAACATGAGACAGAAGGCTAACCCAGCCCATGGATGACATGCTCTCCACAAGTGTACATGAGATGGACTTTAAATATTTCCTCCTCTTAATCCAGGCCGCCTTGGTGATGTACTGTTGCTATAGGTGTGGTTGGAGAGTTTTCTGGAAGCGTCTCTCTCACTGCTATACTTCCACTGCTATACCCTGAATACACAGATTCCTAAAGGTTGACTTGCCAACAGCCAAGCTGAGCATTGACCTCAGAAAAGCAATTCTTCCTTCCAGTTATGCATAATCTGGGGAAGTGCCTTCCAAAGACAGAGAAAGAGGGCAGTGATCCCTGAGACTGGCTGCATGCATGTCCAAAGAGCACAGGAGGAAAGGAAGGTGAGTGAAGGTAGCACTGTGCATGTGGTGATGAGGGAAAGGGTACTTCTGGGCTGGTGGGTGCCTGCTCTACTTTTCTGCACAGCCAAGCTAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGAGTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAAATTCTGAACCATTCACAATGTCTGCTTAAGCAACCTGGTCTAGTTTTTGAAGTCAACTCAACTCTGAAAAGAATCTGAACAAGGTTAACAGTGGAGACATAGGGACATGAGGCTGAGGTGGTCATCCTGTGGTTCTTCAGACATGCTCTGCAGTTATTAATAATTATGATGCCAACAACAGCGATAATATGGCAATAACTACAGCTTACGCTGTCATTATCTTGGTTCACATGTAGATCACGCCAGGGATGGGGAAGGTGGGGAGATGAAGCAAGATCCTGGAAACCTGAAAGAGATCTACTTGAAGATTCCTACCAGGAGAGCTGCCATCTCTCTGTACAGCTAATGTTATTAGCTATAAGTCAAAACTTGCATAGAGTTATTGCCCTTTAAGGGCAAACTTGCATTGACTTATTCCCCCGAAGGACAGTAGCTTTATGCAGGTTTTGACTTACATCTAGTAACGGGAAAATATACAAACCCAGGCCCCCGCCACAAAAAAAGCGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGTACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCTGGCCAAAAGCATATTTTTTAAGTTTCTAACCTAAAATCAACTTAAACTATGGTACTTTGATATGAGTCTCCGTGTTATCGTATTTCTAAAGCCCTTTATACCCATGTTGAGAGTTAGTCTAGGCCCATGGGGAAGAAGACTATACCTACGGAACGCTGGGGTTCCTTGCTTATGTCTTCTGATTCTTTTGTCCAAGATCCCTCTACACAAATAAGCTTAGGCTCTCTCTGCCAAGTTCACATGGACAATTAGAGTGGAAATAGGACCATACACAGAAAGCTTTCTGCTGGCCCCATGGGGGCTTGTGGTATACACCTCCCATGAACAGAAACTTAAAGGTCCTGGTCTATATAATAATCTTCATTCAAGGCCAAATCTTATGCATGGGCACCCTGGGGTCTCTTGAATACTATTTTTGTTTCTTTGGCGGGTTTATTTTGGAACTTTTTTTTGAGGGAAGTAAGAAAGGTATTATAAGACTCACCAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGATTCGCTGGAGCTTCACCACGTTGGAGTCGCCTGCTGGGCCTGCCAAGATCCGTAGCTGGGCTGCATCGTAGCGATCTCCAATTCCAATAGGGAACACTGTCACTCCTAGAGTTAGCAAAGAGACAAGAAAGGATCTGTGGGCAAGAAGGCTCAAAATGGACTGGCCTGACGTT
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Task1_train_16988
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A variant has been detected on Chromosome 12 in VWF (von Willebrand factor). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; von Willebrand disease type 1
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TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATAGAAGCAAAAAGCAGAATGGTGGTTGCGGGGGCTAGGGGAAGGGGAAAATGGGAAGTTGCTGTTCAGTGGGCATAGTTTCAGTCACACAAAACAAAAACTTCTAGAGATCTGCTGTACAACAACTTGCAAATAGCTAACAATATGGTATTGTACACTGGAAAATTTATTAATAGGGTAGATCTCATGTGTTTCTTATCACAACTTTTCTAATGGGAAAATGGGGAAAGGCATGAGCAGAAAATTCACAAAATTAGACCAAAAAATGGCAATTAAACATATGATAAAATGTTTAACCTCACTCATCATTAGAGAAATGAATTTCAAGTACACTGAGATACTATTTCTTTCCTGAAAAGTAAGAAATTTGCAAAAAAAATAAATAAAAACTGTAACAACACACTCAGCAAGGCCGTGGAGATGCATGCACTCTCATACCTCGCTGATCGAAAACCAAACTGATGGACATTCCAGTTTTGCACAACCACATCTCACCTGTTAGAGGAGAATCTGGGAATGTCTAAGGGGAACTTCATATGCACTTATCTTTTGACCCAAGAATCTCACTTCTAGGAATCTACCCTGAAGACACACCTCCAACCATATGAAAATTCGTTCGTATGTTCAGGTTTACTCATTGCAGCATTGCTTGTCATTACAAAACACTGGAAACAGCCTAAACGCACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTCTTTGAAATGACATCGAGTAATTTCCAGGATATGCTTTTAATCACAAAAGGCAAAGCTCTTTGTACAGAGGAAAGCTGACCATACCCTCCTTCCCAGAGGCAGGCAGCCTAAATTGGAACTGGGAGGTGTTTTAACTCTAATCAAATTCAAAGTTTTGATTATTACGCAAGAGTGGGTATCTAGTTATCAACTGAGACTTTGTCTTCTGACAAAGTAACTATAGAATTCTTTATGAATAAACAGAAGAAACCTAAAGTCTGGTGGAGTTTTCACCTAGACCAAGAGGGAAATTTATCTCACTAAATAAATTCTAAAGGGGGAATGAGCTATAAATACAGTTTTGATTGCATCCCACCAGTTATGCCTGTTCAGCATAAAGGTTACAATCCACTGCTGAGTCATGGTCACCATAAGCAGTCATTGCTCCCAAACATGAGACAGAAGGCTAACCCAGCCCATGGATGACATGCTCTCCACAAGTGTACATGAGATGGACTTTAAATATTTCCTCCTCTTAATCCAGGCCGCCTTGGTGATGTACTGTTGCTATAGGTGTGGTTGGAGAGTTTTCTGGAAGCGTCTCTCTCACTGCTATACTTCCACTGCTATACCCTGAATACACAGATTCCTAAAGGTTGACTTGCCAACAGCCAAGCTGAGCATTGACCTCAGAAAAGCAATTCTTCCTTCCAGTTATGCATAATCTGGGGAAGTGCCTTCCAAAGACAGAGAAAGAGGGCAGTGATCCCTGAGACTGGCTGCATGCATGTCCAAAGAGCACAGGAGGAAAGGAAGGTGAGTGAAGGTAGCACTGTGCATGTGGTGATGAGGGAAAGGGTACTTCTGGGCTGGTGGGTGCCTGCTCTACTTTTCTGCACAGCCAAGCTAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAAATTCTGAACCATTCACAATGTCTGCTTAAGCAACCTGGTCTAGTTTTTGAAGTCAACTCAACTCTGAAAAGAATCTGAACAAGGTTAACAGTGGAGACATAGGGACATGAGGCTGAGGTGGTCATCCTGTGGTTCTTCAGACATGCTCTGCAGTTATTAATAATTATGATGCCAACAACAGCGATAATATGGCAATAACTACAGCTTACGCTGTCATTATCTTGGTTCACATGTAGATCACGCCAGGGATGGGGAAGGTGGGGAGATGAAGCAAGATCCTGGAAACCTGAAAGAGATCTACTTGAAGATTCCTACCAGGAGAGCTGCCATCTCTCTGTACAGCTAATGTTATTAGCTATAAGTCAAAACTTGCATAGAGTTATTGCCCTTTAAGGGCAAACTTGCATTGACTTATTCCCCCGAAGGACAGTAGCTTTATGCAGGTTTTGACTTACATCTAGTAACGGGAAAATATACAAACCCAGGCCCCCGCCACAAAAAAAGCGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGTACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCTGGCCAAAAGCATATTTTTTAAGTTTCTAACCTAAAATCAACTTAAACTATGGTACTTTGATATGAGTCTCCGTGTTATCGTATTTCTAAAGCCCTTTATACCCATGTTGAGAGTTAGTCTAGGCCCATGGGGAAGAAGACTATACCTACGGAACGCTGGGGTTCCTTGCTTATGTCTTCTGATTCTTTTGTCCAAGATCCCTCTACACAAATAAGCTTAGGCTCTCTCTGCCAAGTTCACATGGACAATTAGAGTGGAAATAGGACCATACACAGAAAGCTTTCTGCTGGCCCCATGGGGGCTTGTGGTATACACCTCCCATGAACAGAAACTTAAAGGTCCTGGTCTATATAATAATCTTCATTCAAGGCCAAATCTTATGCATGGGCACCCTGGGGTCTCTTGAATACTATTTTTGTTTCTTTGGCGGGTTTATTTTGGAACTTTTTTTTGAGGGAAGTAAGAAAGGTATTATAAGACTCACCAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGATTCGCTGGAGCTTCACCACGTTGGAGTCGCCTGCTGGGCCTGCCAAGATCCGTAGCTGGGCTGCATCGTAGCGATCTCCAATTCCAATAGGGAACACTGTCACTCCTAGAGTTAGCAAAGAGACAAGAAAGGATCTGTGGGCAAGAAGGCTCAAAATGGACTGGCCTGACGTT
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TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATAGAAGCAAAAAGCAGAATGGTGGTTGCGGGGGCTAGGGGAAGGGGAAAATGGGAAGTTGCTGTTCAGTGGGCATAGTTTCAGTCACACAAAACAAAAACTTCTAGAGATCTGCTGTACAACAACTTGCAAATAGCTAACAATATGGTATTGTACACTGGAAAATTTATTAATAGGGTAGATCTCATGTGTTTCTTATCACAACTTTTCTAATGGGAAAATGGGGAAAGGCATGAGCAGAAAATTCACAAAATTAGACCAAAAAATGGCAATTAAACATATGATAAAATGTTTAACCTCACTCATCATTAGAGAAATGAATTTCAAGTACACTGAGATACTATTTCTTTCCTGAAAAGTAAGAAATTTGCAAAAAAAATAAATAAAAACTGTAACAACACACTCAGCAAGGCCGTGGAGATGCATGCACTCTCATACCTCGCTGATCGAAAACCAAACTGATGGACATTCCAGTTTTGCACAACCACATCTCACCTGTTAGAGGAGAATCTGGGAATGTCTAAGGGGAACTTCATATGCACTTATCTTTTGACCCAAGAATCTCACTTCTAGGAATCTACCCTGAAGACACACCTCCAACCATATGAAAATTCGTTCGTATGTTCAGGTTTACTCATTGCAGCATTGCTTGTCATTACAAAACACTGGAAACAGCCTAAACGCACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTCTTTGAAATGACATCGAGTAATTTCCAGGATATGCTTTTAATCACAAAAGGCAAAGCTCTTTGTACAGAGGAAAGCTGACCATACCCTCCTTCCCAGAGGCAGGCAGCCTAAATTGGAACTGGGAGGTGTTTTAACTCTAATCAAATTCAAAGTTTTGATTATTACGCAAGAGTGGGTATCTAGTTATCAACTGAGACTTTGTCTTCTGACAAAGTAACTATAGAATTCTTTATGAATAAACAGAAGAAACCTAAAGTCTGGTGGAGTTTTCACCTAGACCAAGAGGGAAATTTATCTCACTAAATAAATTCTAAAGGGGGAATGAGCTATAAATACAGTTTTGATTGCATCCCACCAGTTATGCCTGTTCAGCATAAAGGTTACAATCCACTGCTGAGTCATGGTCACCATAAGCAGTCATTGCTCCCAAACATGAGACAGAAGGCTAACCCAGCCCATGGATGACATGCTCTCCACAAGTGTACATGAGATGGACTTTAAATATTTCCTCCTCTTAATCCAGGCCGCCTTGGTGATGTACTGTTGCTATAGGTGTGGTTGGAGAGTTTTCTGGAAGCGTCTCTCTCACTGCTATACTTCCACTGCTATACCCTGAATACACAGATTCCTAAAGGTTGACTTGCCAACAGCCAAGCTGAGCATTGACCTCAGAAAAGCAATTCTTCCTTCCAGTTATGCATAATCTGGGGAAGTGCCTTCCAAAGACAGAGAAAGAGGGCAGTGATCCCTGAGACTGGCTGCATGCATGTCCAAAGAGCACAGGAGGAAAGGAAGGTGAGTGAAGGTAGCACTGTGCATGTGGTGATGAGGGAAAGGGTACTTCTGGGCTGGTGGGTGCCTGCTCTACTTTTCTGCACAGCCAAGCTAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGAGTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAAATTCTGAACCATTCACAATGTCTGCTTAAGCAACCTGGTCTAGTTTTTGAAGTCAACTCAACTCTGAAAAGAATCTGAACAAGGTTAACAGTGGAGACATAGGGACATGAGGCTGAGGTGGTCATCCTGTGGTTCTTCAGACATGCTCTGCAGTTATTAATAATTATGATGCCAACAACAGCGATAATATGGCAATAACTACAGCTTACGCTGTCATTATCTTGGTTCACATGTAGATCACGCCAGGGATGGGGAAGGTGGGGAGATGAAGCAAGATCCTGGAAACCTGAAAGAGATCTACTTGAAGATTCCTACCAGGAGAGCTGCCATCTCTCTGTACAGCTAATGTTATTAGCTATAAGTCAAAACTTGCATAGAGTTATTGCCCTTTAAGGGCAAACTTGCATTGACTTATTCCCCCGAAGGACAGTAGCTTTATGCAGGTTTTGACTTACATCTAGTAACGGGAAAATATACAAACCCAGGCCCCCGCCACAAAAAAAGCGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGTACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCTGGCCAAAAGCATATTTTTTAAGTTTCTAACCTAAAATCAACTTAAACTATGGTACTTTGATATGAGTCTCCGTGTTATCGTATTTCTAAAGCCCTTTATACCCATGTTGAGAGTTAGTCTAGGCCCATGGGGAAGAAGACTATACCTACGGAACGCTGGGGTTCCTTGCTTATGTCTTCTGATTCTTTTGTCCAAGATCCCTCTACACAAATAAGCTTAGGCTCTCTCTGCCAAGTTCACATGGACAATTAGAGTGGAAATAGGACCATACACAGAAAGCTTTCTGCTGGCCCCATGGGGGCTTGTGGTATACACCTCCCATGAACAGAAACTTAAAGGTCCTGGTCTATATAATAATCTTCATTCAAGGCCAAATCTTATGCATGGGCACCCTGGGGTCTCTTGAATACTATTTTTGTTTCTTTGGCGGGTTTATTTTGGAACTTTTTTTTGAGGGAAGTAAGAAAGGTATTATAAGACTCACCAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGATTCGCTGGAGCTTCACCACGTTGGAGTCGCCTGCTGGGCCTGCCAAGATCCGTAGCTGGGCTGCATCGTAGCGATCTCCAATTCCAATAGGGAACACTGTCACTCCTAGAGTTAGCAAAGAGACAAGAAAGGATCTGTGGGCAAGAAGGCTCAAAATGGACTGGCCTGACGTT
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Task1_train_16989
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A change on Chromosome 12 affects gene VWF (von Willebrand factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; von Willebrand disease type 3
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TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATAGAAGCAAAAAGCAGAATGGTGGTTGCGGGGGCTAGGGGAAGGGGAAAATGGGAAGTTGCTGTTCAGTGGGCATAGTTTCAGTCACACAAAACAAAAACTTCTAGAGATCTGCTGTACAACAACTTGCAAATAGCTAACAATATGGTATTGTACACTGGAAAATTTATTAATAGGGTAGATCTCATGTGTTTCTTATCACAACTTTTCTAATGGGAAAATGGGGAAAGGCATGAGCAGAAAATTCACAAAATTAGACCAAAAAATGGCAATTAAACATATGATAAAATGTTTAACCTCACTCATCATTAGAGAAATGAATTTCAAGTACACTGAGATACTATTTCTTTCCTGAAAAGTAAGAAATTTGCAAAAAAAATAAATAAAAACTGTAACAACACACTCAGCAAGGCCGTGGAGATGCATGCACTCTCATACCTCGCTGATCGAAAACCAAACTGATGGACATTCCAGTTTTGCACAACCACATCTCACCTGTTAGAGGAGAATCTGGGAATGTCTAAGGGGAACTTCATATGCACTTATCTTTTGACCCAAGAATCTCACTTCTAGGAATCTACCCTGAAGACACACCTCCAACCATATGAAAATTCGTTCGTATGTTCAGGTTTACTCATTGCAGCATTGCTTGTCATTACAAAACACTGGAAACAGCCTAAACGCACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTCTTTGAAATGACATCGAGTAATTTCCAGGATATGCTTTTAATCACAAAAGGCAAAGCTCTTTGTACAGAGGAAAGCTGACCATACCCTCCTTCCCAGAGGCAGGCAGCCTAAATTGGAACTGGGAGGTGTTTTAACTCTAATCAAATTCAAAGTTTTGATTATTACGCAAGAGTGGGTATCTAGTTATCAACTGAGACTTTGTCTTCTGACAAAGTAACTATAGAATTCTTTATGAATAAACAGAAGAAACCTAAAGTCTGGTGGAGTTTTCACCTAGACCAAGAGGGAAATTTATCTCACTAAATAAATTCTAAAGGGGGAATGAGCTATAAATACAGTTTTGATTGCATCCCACCAGTTATGCCTGTTCAGCATAAAGGTTACAATCCACTGCTGAGTCATGGTCACCATAAGCAGTCATTGCTCCCAAACATGAGACAGAAGGCTAACCCAGCCCATGGATGACATGCTCTCCACAAGTGTACATGAGATGGACTTTAAATATTTCCTCCTCTTAATCCAGGCCGCCTTGGTGATGTACTGTTGCTATAGGTGTGGTTGGAGAGTTTTCTGGAAGCGTCTCTCTCACTGCTATACTTCCACTGCTATACCCTGAATACACAGATTCCTAAAGGTTGACTTGCCAACAGCCAAGCTGAGCATTGACCTCAGAAAAGCAATTCTTCCTTCCAGTTATGCATAATCTGGGGAAGTGCCTTCCAAAGACAGAGAAAGAGGGCAGTGATCCCTGAGACTGGCTGCATGCATGTCCAAAGAGCACAGGAGGAAAGGAAGGTGAGTGAAGGTAGCACTGTGCATGTGGTGATGAGGGAAAGGGTACTTCTGGGCTGGTGGGTGCCTGCTCTACTTTTCTGCACAGCCAAGCTAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAAATTCTGAACCATTCACAATGTCTGCTTAAGCAACCTGGTCTAGTTTTTGAAGTCAACTCAACTCTGAAAAGAATCTGAACAAGGTTAACAGTGGAGACATAGGGACATGAGGCTGAGGTGGTCATCCTGTGGTTCTTCAGACATGCTCTGCAGTTATTAATAATTATGATGCCAACAACAGCGATAATATGGCAATAACTACAGCTTACGCTGTCATTATCTTGGTTCACATGTAGATCACGCCAGGGATGGGGAAGGTGGGGAGATGAAGCAAGATCCTGGAAACCTGAAAGAGATCTACTTGAAGATTCCTACCAGGAGAGCTGCCATCTCTCTGTACAGCTAATGTTATTAGCTATAAGTCAAAACTTGCATAGAGTTATTGCCCTTTAAGGGCAAACTTGCATTGACTTATTCCCCCGAAGGACAGTAGCTTTATGCAGGTTTTGACTTACATCTAGTAACGGGAAAATATACAAACCCAGGCCCCCGCCACAAAAAAAGCGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGTACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCTGGCCAAAAGCATATTTTTTAAGTTTCTAACCTAAAATCAACTTAAACTATGGTACTTTGATATGAGTCTCCGTGTTATCGTATTTCTAAAGCCCTTTATACCCATGTTGAGAGTTAGTCTAGGCCCATGGGGAAGAAGACTATACCTACGGAACGCTGGGGTTCCTTGCTTATGTCTTCTGATTCTTTTGTCCAAGATCCCTCTACACAAATAAGCTTAGGCTCTCTCTGCCAAGTTCACATGGACAATTAGAGTGGAAATAGGACCATACACAGAAAGCTTTCTGCTGGCCCCATGGGGGCTTGTGGTATACACCTCCCATGAACAGAAACTTAAAGGTCCTGGTCTATATAATAATCTTCATTCAAGGCCAAATCTTATGCATGGGCACCCTGGGGTCTCTTGAATACTATTTTTGTTTCTTTGGCGGGTTTATTTTGGAACTTTTTTTTGAGGGAAGTAAGAAAGGTATTATAAGACTCACCAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGATTCGCTGGAGCTTCACCACGTTGGAGTCGCCTGCTGGGCCTGCCAAGATCCGTAGCTGGGCTGCATCGTAGCGATCTCCAATTCCAATAGGGAACACTGTCACTCCTAGAGTTAGCAAAGAGACAAGAAAGGATCTGTGGGCAAGAAGGCTCAAAATGGACTGGCCTGACGTT
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TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATAGAAGCAAAAAGCAGAATGGTGGTTGCGGGGGCTAGGGGAAGGGGAAAATGGGAAGTTGCTGTTCAGTGGGCATAGTTTCAGTCACACAAAACAAAAACTTCTAGAGATCTGCTGTACAACAACTTGCAAATAGCTAACAATATGGTATTGTACACTGGAAAATTTATTAATAGGGTAGATCTCATGTGTTTCTTATCACAACTTTTCTAATGGGAAAATGGGGAAAGGCATGAGCAGAAAATTCACAAAATTAGACCAAAAAATGGCAATTAAACATATGATAAAATGTTTAACCTCACTCATCATTAGAGAAATGAATTTCAAGTACACTGAGATACTATTTCTTTCCTGAAAAGTAAGAAATTTGCAAAAAAAATAAATAAAAACTGTAACAACACACTCAGCAAGGCCGTGGAGATGCATGCACTCTCATACCTCGCTGATCGAAAACCAAACTGATGGACATTCCAGTTTTGCACAACCACATCTCACCTGTTAGAGGAGAATCTGGGAATGTCTAAGGGGAACTTCATATGCACTTATCTTTTGACCCAAGAATCTCACTTCTAGGAATCTACCCTGAAGACACACCTCCAACCATATGAAAATTCGTTCGTATGTTCAGGTTTACTCATTGCAGCATTGCTTGTCATTACAAAACACTGGAAACAGCCTAAACGCACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTCTTTGAAATGACATCGAGTAATTTCCAGGATATGCTTTTAATCACAAAAGGCAAAGCTCTTTGTACAGAGGAAAGCTGACCATACCCTCCTTCCCAGAGGCAGGCAGCCTAAATTGGAACTGGGAGGTGTTTTAACTCTAATCAAATTCAAAGTTTTGATTATTACGCAAGAGTGGGTATCTAGTTATCAACTGAGACTTTGTCTTCTGACAAAGTAACTATAGAATTCTTTATGAATAAACAGAAGAAACCTAAAGTCTGGTGGAGTTTTCACCTAGACCAAGAGGGAAATTTATCTCACTAAATAAATTCTAAAGGGGGAATGAGCTATAAATACAGTTTTGATTGCATCCCACCAGTTATGCCTGTTCAGCATAAAGGTTACAATCCACTGCTGAGTCATGGTCACCATAAGCAGTCATTGCTCCCAAACATGAGACAGAAGGCTAACCCAGCCCATGGATGACATGCTCTCCACAAGTGTACATGAGATGGACTTTAAATATTTCCTCCTCTTAATCCAGGCCGCCTTGGTGATGTACTGTTGCTATAGGTGTGGTTGGAGAGTTTTCTGGAAGCGTCTCTCTCACTGCTATACTTCCACTGCTATACCCTGAATACACAGATTCCTAAAGGTTGACTTGCCAACAGCCAAGCTGAGCATTGACCTCAGAAAAGCAATTCTTCCTTCCAGTTATGCATAATCTGGGGAAGTGCCTTCCAAAGACAGAGAAAGAGGGCAGTGATCCCTGAGACTGGCTGCATGCATGTCCAAAGAGCACAGGAGGAAAGGAAGGTGAGTGAAGGTAGCACTGTGCATGTGGTGATGAGGGAAAGGGTACTTCTGGGCTGGTGGGTGCCTGCTCTACTTTTCTGCACAGCCAAGCTAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGAGTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAAATTCTGAACCATTCACAATGTCTGCTTAAGCAACCTGGTCTAGTTTTTGAAGTCAACTCAACTCTGAAAAGAATCTGAACAAGGTTAACAGTGGAGACATAGGGACATGAGGCTGAGGTGGTCATCCTGTGGTTCTTCAGACATGCTCTGCAGTTATTAATAATTATGATGCCAACAACAGCGATAATATGGCAATAACTACAGCTTACGCTGTCATTATCTTGGTTCACATGTAGATCACGCCAGGGATGGGGAAGGTGGGGAGATGAAGCAAGATCCTGGAAACCTGAAAGAGATCTACTTGAAGATTCCTACCAGGAGAGCTGCCATCTCTCTGTACAGCTAATGTTATTAGCTATAAGTCAAAACTTGCATAGAGTTATTGCCCTTTAAGGGCAAACTTGCATTGACTTATTCCCCCGAAGGACAGTAGCTTTATGCAGGTTTTGACTTACATCTAGTAACGGGAAAATATACAAACCCAGGCCCCCGCCACAAAAAAAGCGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGTACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCTGGCCAAAAGCATATTTTTTAAGTTTCTAACCTAAAATCAACTTAAACTATGGTACTTTGATATGAGTCTCCGTGTTATCGTATTTCTAAAGCCCTTTATACCCATGTTGAGAGTTAGTCTAGGCCCATGGGGAAGAAGACTATACCTACGGAACGCTGGGGTTCCTTGCTTATGTCTTCTGATTCTTTTGTCCAAGATCCCTCTACACAAATAAGCTTAGGCTCTCTCTGCCAAGTTCACATGGACAATTAGAGTGGAAATAGGACCATACACAGAAAGCTTTCTGCTGGCCCCATGGGGGCTTGTGGTATACACCTCCCATGAACAGAAACTTAAAGGTCCTGGTCTATATAATAATCTTCATTCAAGGCCAAATCTTATGCATGGGCACCCTGGGGTCTCTTGAATACTATTTTTGTTTCTTTGGCGGGTTTATTTTGGAACTTTTTTTTGAGGGAAGTAAGAAAGGTATTATAAGACTCACCAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGATTCGCTGGAGCTTCACCACGTTGGAGTCGCCTGCTGGGCCTGCCAAGATCCGTAGCTGGGCTGCATCGTAGCGATCTCCAATTCCAATAGGGAACACTGTCACTCCTAGAGTTAGCAAAGAGACAAGAAAGGATCTGTGGGCAAGAAGGCTCAAAATGGACTGGCCTGACGTT
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Task1_train_16990
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A variant found in Chromosome 12 affects VWF (von Willebrand factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; von Willebrand disease type 1
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GAGGGAGGGACATCCCAAGCAGAGAGAAGAGTGAGTGCAAAGGCCCCAGAGCAGAAATGTGACTGCATGCTCCCGGGGGCTGGGGAGAGAGGGACAAGCAAGAGAGGGAAAGGGCATGGATCAGGCAATGCTCCATTGGCCACAGTAAGGGCTCACCATGTTCTGTGAATGAAACAAAGCCAGCCAAGACTACAGAGCAGAGGGACAGGAGCTGATTTTGATATTAAAGGGCCACTGCAGCTGCTGTGCTGAGAATGATCTGCAGGGGACAAAGGTGGAAGCTGGGGTTCCAGTTAGACAGCTATTTCAATAGTCCAGGTGAGAGATGATGGGGACTCGGATTGAGGTGACCCTAGTGGACATGGTGTGGGGAGGTGTGACTCTCGAAGTATTTTGAAGATGGAGCTATAGTTTGTTCGTGGCTTGCATGGAGGTATCAGGGAAAAGGAAGAAGAATCAAGGATGCTGAGCTTTTTGAACTGAACAACTGGAAGGTTGGAATTGCCATTTTCTAAGATAAGAAAGACAGATGTGAAAATCAGGAGTTTAGTTTTGCCTATTAGAGCATGCAAACTGAGTTGAGGTGAGGCTGGAGATACGAATTTCAAAGTCAAAGATGTATAAATGTATTTAGACCCATGACACTGAACTAGACCACCAAGGGGGTATATGTAAGAAGAGAAGAGAAAATATCACAGGGCTGAGCCCAGAGAATGTGCATGCTCATTTACACATGAGAAACCGAGGCTTTGGACGGTTAAATGACTTGCTCTGGATCATATCTGCTTCAAGACCACAACTGCTTTCTTTCCCAGTGAAAATCTTTCTTTGGATTCTTGATACTGAAGGAGAAAAAATCTCCATCCTGAAATTCCTCAATTCAGCTCTCCAGAAAGTTCTAGGAATTTGCAATGTGCTTCAGGTTGGAACGGATTTTCTATTAGCAGCTTTTCAGCTCTTGTAAGTTCGTTATATTATCCAAATATATATCCTTTCCCTTTTAGTGTCCTTTACCCTAAAATCATAGATTTCATAAACATGTCACATTCATTCACTCAACAAACGTTAAATGGTCACCTATTTTGTGCATCATACACAGATGATACAAAAATAAGCAAGATCTTCCCTTGCCTTCAAAGAACTCCCAGTTTTTTGCAAGGAATAGATATGTTACAAATACAATACAATACAATACGATTTGCACATTTTGAGTAGCTCATATGTGACATAGAGAACGGAGCAAATAACTTCCTCAGGAAGAACATCAGGAAGACAGCAGAGAAAAGACAGGGTTCTGACAGCACTCCTAGGCAGGGTTCTGAAAGATGAACAGTTCTCCAGGTGGCCACGAGGGGACTCAATGTCACTCCACTCACCCAGACCTTCTTCAGCTGGGAGGTGGTCCCTAGACTCTACCACCTGTCCCAGCTCACATCCTGTTGATATTAAGAACATGATAAGCACATGTTCTTATGGAGCACAAGGCTGGACATCTGGATCCTTCCCTTTCCTACAGCATGATCCTTTGTCTCTCATCCATCAACCCTGCCAAGCCCATTACCTGGTACCAGGAAAGGACTCTAAATACATGAAAGCCCCCATTGGTTCTCAAGGCCCTACAATGAATCACTCTGGCCTCAGACATGACATTTTAGTAAGAGACCACGAATCCTACTTTAGAAAGAAAGGGCATAGAGGTATGATCACTCCTGGACACAAAGGGAAAATGTGGAGAAATTAAAGATTATAATTAGTTATAAAGATATAGGATCAATACACACTTTTTATTGTTTGGTTTCCTAATCACATCGTGGTTGGATAATTTCCTGCTGTTTGAAACCAGGACAGAGGTTGGTATTGAGCATATTTAATATCAGCCACAACATCCAAAAGTAACCCCAGCCCACTTTTAATCCTCTATCATTTCTGAAGTCTCGCTCTCCTGAATTGAGGACTGTACACCAGATTCTTACTGTTGGACCTGGCGGCATCAGCTGCTGCATCCACTGAATCCACAGAGACGTCCGTGACCAGGATGACCACCGCCTTTGAGGCTCCCGGCCTGGCACCATGCATTTCTGAAGTCAAGTATCGCACAGCAAAGCCCAAGGCATCCCCTGAGGATGGAGAACAGATCACGCCAAGTCAGTACTGACTGCGGCTCGACACCCTGTCTTAACGGTGGATCCTTAAGTCACTTAAAAGCTGAATGATTCAGAAACTCCAAGGAACACCCAGTTGAGATCTGGAGAGACGTGGAAGAGCATCTAGCCCCTCACTTTCCAGGAGAAGAAACTAAGGCCAAGGAGCAAAGTGACTGGCCGAGGTCACACAGTCACTTATGCCAAAAATAAGAACCAGAATGCAGCTTCTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAA
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GAGGGAGGGACATCCCAAGCAGAGAGAAGAGTGAGTGCAAAGGCCCCAGAGCAGAAATGTGACTGCATGCTCCCGGGGGCTGGGGAGAGAGGGACAAGCAAGAGAGGGAAAGGGCATGGATCAGGCAATGCTCCATTGGCCACAGTAAGGGCTCACCATGTTCTGTGAATGAAACAAAGCCAGCCAAGACTACAGAGCAGAGGGACAGGAGCTGATTTTGATATTAAAGGGCCACTGCAGCTGCTGTGCTGAGAATGATCTGCAGGGGACAAAGGTGGAAGCTGGGGTTCCAGTTAGACAGCTATTTCAATAGTCCAGGTGAGAGATGATGGGGACTCGGATTGAGGTGACCCTAGTGGACATGGTGTGGGGAGGTGTGACTCTCGAAGTATTTTGAAGATGGAGCTATAGTTTGTTCGTGGCTTGCATGGAGGTATCAGGGAAAAGGAAGAAGAATCAAGGATGCTGAGCTTTTTGAACTGAACAACTGGAAGGTTGGAATTGCCATTTTCTAAGATAAGAAAGACAGATGTGAAAATCAGGAGTTTAGTTTTGCCTATTAGAGCATGCAAACTGAGTTGAGGTGAGGCTGGAGATACGAATTTCAAAGTCAAAGATGTATAAATGTATTTAGACCCATGACACTGAACTAGACCACCAAGGGGGTATATGTAAGAAGAGAAGAGAAAATATCACAGGGCTGAGCCCAGAGAATGTGCATGCTCATTTACACATGAGAAACCGAGGCTTTGGACGGTTAAATGACTTGCTCTGGATCATATCTGCTTCAAGACCACAACTGCTTTCTTTCCCAGTGAAAATCTTTCTTTGGATTCTTGATACTGAAGGAGAAAAAATCTCCATCCTGAAATTCCTCAATTCAGCTCTCCAGAAAGTTCTAGGAATTTGCAATGTGCTTCAGGTTGGAACGGATTTTCTATTAGCAGCTTTTCAGCTCTTGTAAGTTCGTTATATTATCCAAATATATATCCTTTCCCTTTTAGTGTCCTTTACCCTAAAATCATAGATTTCATAAACATGTCACATTCATTCACTCAACAAACGTTAAATGGTCACCTATTTTGTGCATCATACACAGATGATACAAAAATAAGCAAGATCTTCCCTTGCCTTCAAAGAACTCCCAGTTTTTTGCAAGGAATAGATATGTTACAAATACAATACAATACAATACGATTTGCACATTTTGAGTAGCTCATATGTGACATAGAGAACGGAGCAAATAACTTCCTCAGGAAGAACATCAGGAAGACAGCAGAGAAAAGACAGGGTTCTGACAGCACTCCTAGGCAGGGTTCTGAAAGATGAACAGTTCTCCAGGTGGCCACGAGGGGACTCAATGTCACTCCACTCACCCAGACCTTCTTCAGCTGGGAGGTGGTCCCTAGACTCTACCACCTGTCCCAGCTCACATCCTGTTGATATTAAGAACATGATAAGCACATGTTCTTATGGAGCACAAGGCTGGACATCTGGATCCTTCCCTTTCCTACAGCATGATCCTTTGTCTCTCATCCATCAACCCTGCCAAGCCCATTACCTGGTACCAGGAAAGGACTCTAAATACATGAAAGCCCCCATTGGTTCTCAAGGCCCTACAATGAATCACTCTGGCCTCAGACATGACATTTTAGTAAGAGACCACGAATCCTACTTTAGAAAGAAAGGGCATAGAGGTATGATCACTCCTGGACACAAAGGGAAAATGTGGAGAAATTAAAGATTATAATTAGTTATAAAGATATAGGATCAATACACACTTTTTATTGTTTGGTTTCCTAATCACATCGTGGTTGGATAATTTCCTGCTGTTTGAAACCAGGACAGAGGTTGGTATTGAGCATATTTAATATCAGCCACAACATCCAAAAGTAACCCCAGCCCACTTTTAATCCTCTATCATTTCTGAAGTCTCGCTCTCCTGAATTGAGGACTGTACACCAGATTCTTACTGTTGGACCTGGCGGCATCAGCTGCTGCATCCACTGAATCCACAGAGACGTCCGTGACCAGGATGACCACCGCCTCTGAGGCTCCCGGCCTGGCACCATGCATTTCTGAAGTCAAGTATCGCACAGCAAAGCCCAAGGCATCCCCTGAGGATGGAGAACAGATCACGCCAAGTCAGTACTGACTGCGGCTCGACACCCTGTCTTAACGGTGGATCCTTAAGTCACTTAAAAGCTGAATGATTCAGAAACTCCAAGGAACACCCAGTTGAGATCTGGAGAGACGTGGAAGAGCATCTAGCCCCTCACTTTCCAGGAGAAGAAACTAAGGCCAAGGAGCAAAGTGACTGGCCGAGGTCACACAGTCACTTATGCCAAAAATAAGAACCAGAATGCAGCTTCTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAA
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Task1_train_16991
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This mutation is located in gene VWF (von Willebrand factor) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; von Willebrand disease type 2M
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TGGAGGTATCAGGGAAAAGGAAGAAGAATCAAGGATGCTGAGCTTTTTGAACTGAACAACTGGAAGGTTGGAATTGCCATTTTCTAAGATAAGAAAGACAGATGTGAAAATCAGGAGTTTAGTTTTGCCTATTAGAGCATGCAAACTGAGTTGAGGTGAGGCTGGAGATACGAATTTCAAAGTCAAAGATGTATAAATGTATTTAGACCCATGACACTGAACTAGACCACCAAGGGGGTATATGTAAGAAGAGAAGAGAAAATATCACAGGGCTGAGCCCAGAGAATGTGCATGCTCATTTACACATGAGAAACCGAGGCTTTGGACGGTTAAATGACTTGCTCTGGATCATATCTGCTTCAAGACCACAACTGCTTTCTTTCCCAGTGAAAATCTTTCTTTGGATTCTTGATACTGAAGGAGAAAAAATCTCCATCCTGAAATTCCTCAATTCAGCTCTCCAGAAAGTTCTAGGAATTTGCAATGTGCTTCAGGTTGGAACGGATTTTCTATTAGCAGCTTTTCAGCTCTTGTAAGTTCGTTATATTATCCAAATATATATCCTTTCCCTTTTAGTGTCCTTTACCCTAAAATCATAGATTTCATAAACATGTCACATTCATTCACTCAACAAACGTTAAATGGTCACCTATTTTGTGCATCATACACAGATGATACAAAAATAAGCAAGATCTTCCCTTGCCTTCAAAGAACTCCCAGTTTTTTGCAAGGAATAGATATGTTACAAATACAATACAATACAATACGATTTGCACATTTTGAGTAGCTCATATGTGACATAGAGAACGGAGCAAATAACTTCCTCAGGAAGAACATCAGGAAGACAGCAGAGAAAAGACAGGGTTCTGACAGCACTCCTAGGCAGGGTTCTGAAAGATGAACAGTTCTCCAGGTGGCCACGAGGGGACTCAATGTCACTCCACTCACCCAGACCTTCTTCAGCTGGGAGGTGGTCCCTAGACTCTACCACCTGTCCCAGCTCACATCCTGTTGATATTAAGAACATGATAAGCACATGTTCTTATGGAGCACAAGGCTGGACATCTGGATCCTTCCCTTTCCTACAGCATGATCCTTTGTCTCTCATCCATCAACCCTGCCAAGCCCATTACCTGGTACCAGGAAAGGACTCTAAATACATGAAAGCCCCCATTGGTTCTCAAGGCCCTACAATGAATCACTCTGGCCTCAGACATGACATTTTAGTAAGAGACCACGAATCCTACTTTAGAAAGAAAGGGCATAGAGGTATGATCACTCCTGGACACAAAGGGAAAATGTGGAGAAATTAAAGATTATAATTAGTTATAAAGATATAGGATCAATACACACTTTTTATTGTTTGGTTTCCTAATCACATCGTGGTTGGATAATTTCCTGCTGTTTGAAACCAGGACAGAGGTTGGTATTGAGCATATTTAATATCAGCCACAACATCCAAAAGTAACCCCAGCCCACTTTTAATCCTCTATCATTTCTGAAGTCTCGCTCTCCTGAATTGAGGACTGTACACCAGATTCTTACTGTTGGACCTGGCGGCATCAGCTGCTGCATCCACTGAATCCACAGAGACGTCCGTGACCAGGATGACCACCGCCTTTGAGGCTCCCGGCCTGGCACCATGCATTTCTGAAGTCAAGTATCGCACAGCAAAGCCCAAGGCATCCCCTGAGGATGGAGAACAGATCACGCCAAGTCAGTACTGACTGCGGCTCGACACCCTGTCTTAACGGTGGATCCTTAAGTCACTTAAAAGCTGAATGATTCAGAAACTCCAAGGAACACCCAGTTGAGATCTGGAGAGACGTGGAAGAGCATCTAGCCCCTCACTTTCCAGGAGAAGAAACTAAGGCCAAGGAGCAAAGTGACTGGCCGAGGTCACACAGTCACTTATGCCAAAAATAAGAACCAGAATGCAGCTTCTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGG
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TGGAGGTATCAGGGAAAAGGAAGAAGAATCAAGGATGCTGAGCTTTTTGAACTGAACAACTGGAAGGTTGGAATTGCCATTTTCTAAGATAAGAAAGACAGATGTGAAAATCAGGAGTTTAGTTTTGCCTATTAGAGCATGCAAACTGAGTTGAGGTGAGGCTGGAGATACGAATTTCAAAGTCAAAGATGTATAAATGTATTTAGACCCATGACACTGAACTAGACCACCAAGGGGGTATATGTAAGAAGAGAAGAGAAAATATCACAGGGCTGAGCCCAGAGAATGTGCATGCTCATTTACACATGAGAAACCGAGGCTTTGGACGGTTAAATGACTTGCTCTGGATCATATCTGCTTCAAGACCACAACTGCTTTCTTTCCCAGTGAAAATCTTTCTTTGGATTCTTGATACTGAAGGAGAAAAAATCTCCATCCTGAAATTCCTCAATTCAGCTCTCCAGAAAGTTCTAGGAATTTGCAATGTGCTTCAGGTTGGAACGGATTTTCTATTAGCAGCTTTTCAGCTCTTGTAAGTTCGTTATATTATCCAAATATATATCCTTTCCCTTTTAGTGTCCTTTACCCTAAAATCATAGATTTCATAAACATGTCACATTCATTCACTCAACAAACGTTAAATGGTCACCTATTTTGTGCATCATACACAGATGATACAAAAATAAGCAAGATCTTCCCTTGCCTTCAAAGAACTCCCAGTTTTTTGCAAGGAATAGATATGTTACAAATACAATACAATACAATACGATTTGCACATTTTGAGTAGCTCATATGTGACATAGAGAACGGAGCAAATAACTTCCTCAGGAAGAACATCAGGAAGACAGCAGAGAAAAGACAGGGTTCTGACAGCACTCCTAGGCAGGGTTCTGAAAGATGAACAGTTCTCCAGGTGGCCACGAGGGGACTCAATGTCACTCCACTCACCCAGACCTTCTTCAGCTGGGAGGTGGTCCCTAGACTCTACCACCTGTCCCAGCTCACATCCTGTTGATATTAAGAACATGATAAGCACATGTTCTTATGGAGCACAAGGCTGGACATCTGGATCCTTCCCTTTCCTACAGCATGATCCTTTGTCTCTCATCCATCAACCCTGCCAAGCCCATTACCTGGTACCAGGAAAGGACTCTAAATACATGAAAGCCCCCATTGGTTCTCAAGGCCCTACAATGAATCACTCTGGCCTCAGACATGACATTTTAGTAAGAGACCACGAATCCTACTTTAGAAAGAAAGGGCATAGAGGTATGATCACTCCTGGACACAAAGGGAAAATGTGGAGAAATTAAAGATTATAATTAGTTATAAAGATATAGGATCAATACACACTTTTTATTGTTTGGTTTCCTAATCACATCGTGGTTGGATAATTTCCTGCTGTTTGAAACCAGGACAGAGGTTGGTATTGAGCATATTTAATATCAGCCACAACATCCAAAAGTAACCCCAGCCCACTTTTAATCCTCTATCATTTCTGAAGTCTCGCTCTCCTGAATTGAGGACTGTACACCAGATTCTTACTGTTGGACCTGGCGGCATCAGCTGCTGCATCCACTGAATCCACAGAGACGTCCGTGACCAGGATGACCACCGCCTTTGAGGCTCCCGGCCTGGCACCATGCATTTCTGAAGTCAAGTATCGCACAGCAAAGCCCAAGGCATCCCCTGAGGATGGAGAACAGATCACGCCAAGTCAGTACTGACTGCGGCTCGACACCCTGTCTTAACGGTGGATCCTTAAGTCACTTAAAAGCTGAATGATTCAGAAACTCCAAGGAACACCCAGTTGAGATCTGGAGAGACGTGGAAGAGCATCTAGCCCCTCACTTTCCAGGAGAAGAAACTAAGGCCAAGGAGCAAAGTGACTGGCCGAGGTCACACAGTCACTTATGCCAAAAATAAGAACCAGAATGCAGCTTCTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTACATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGG
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Task1_train_16992
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Assess the clinical impact of this variant on gene VWF (von Willebrand factor), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Von Willebrand disease type 2A
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CTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTT
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CTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAGTGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTT
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Task1_train_16993
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Gene VWF (von Willebrand factor), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; von Willebrand disease type 2
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CTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTT
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CTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCATTGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTT
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Task1_train_16994
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Given a variant located on Chromosome 12 and affecting VWF (von Willebrand factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Von Willebrand disease type 2A
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CCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAA
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CCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGGGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAA
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Task1_train_16995
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This sequence variant lies in VWF (von Willebrand factor) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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GTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGT
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GTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGTCCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGT
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Task1_train_16996
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Here’s a variant in VWF (von Willebrand factor) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Hereditary von Willebrand disease
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CGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCT
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CGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCTGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCT
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Task1_train_16997
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A genetic alteration is present in VWF (von Willebrand factor) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; von Willebrand disease type 2
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CACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACA
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CACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCATTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACA
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Task1_train_16998
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Gene VWF (von Willebrand factor) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Hereditary von Willebrand disease
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TCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCA
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TCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGAAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCA
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Task1_train_16999
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Assess the clinical impact of this variant on gene VWF (von Willebrand factor), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Von Willebrand disease type 2A
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AGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGA
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AGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGCAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGA
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Subsets and Splits
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