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_17000
|
Given this context: Chromosome 12, gene VWF (von Willebrand factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; not specified
|
CAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAG
|
CAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCTCATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAG
|
Task1_train_17001
|
An alteration has been detected in VWF (von Willebrand factor) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; von Willebrand disease type 2
|
CAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAG
|
CAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCTCATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAG
|
Task1_train_17002
|
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?
|
Pathogenic; not specified
|
GGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGT
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GGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGACAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGT
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Task1_train_17003
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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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AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCT
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AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCAGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCT
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Task1_train_17004
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Chromosome 12 houses a mutation in gene VWF (von Willebrand factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; von Willebrand disease type 2
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AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCT
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AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCAGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCT
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Task1_train_17005
|
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; VWF-related disorder
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AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCT
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AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCAGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCT
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Task1_train_17006
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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?
|
Pathogenic; von Willebrand disease type 1
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AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCT
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AGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCAGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCT
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Task1_train_17007
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A genomic change on Chromosome 12 affects VWF (von Willebrand factor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; von Willebrand disease type 2
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CAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTC
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CAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGTGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTC
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Task1_train_17008
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A mutation in VWF (von Willebrand factor), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hereditary von Willebrand disease
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AGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCC
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AGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCAGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCC
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Task1_train_17009
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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; von Willebrand disease type 2
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AGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCC
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AGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCAGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCC
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Task1_train_17010
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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 1
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GGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGA
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GGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTTGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGA
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Task1_train_17011
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A mutation found in VWF (von Willebrand factor) 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; Von Willebrand disease type 2B
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AGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACAC
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AGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCTGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACAC
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Task1_train_17012
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Consider this mutation in VWF (von Willebrand factor) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; von Willebrand disease type 2M
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CAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTG
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CAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCTGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTG
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Task1_train_17013
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Consider this mutation in VWF (von Willebrand factor) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Von Willebrand disease type 2B
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AATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCT
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AATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCATGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCT
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Task1_train_17014
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A genomic change on Chromosome 12 affects VWF (von Willebrand factor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; von Willebrand disease type 2
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TAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGA
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TAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGAGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGA
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Task1_train_17015
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Given this variant in gene VWF (von Willebrand factor) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Von Willebrand disease type 2B
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TCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCC
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TCTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGAGCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCC
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Task1_train_17016
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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 2B
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CTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCC
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CTATGGCCGTGAATAAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACGCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCC
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Task1_train_17017
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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 2B
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AAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATAT
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AAAAACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGACGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATAT
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Task1_train_17018
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The variant affects gene VWF (von Willebrand factor), 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; Von Willebrand disease type 2B
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AACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGA
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AACAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCACAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGA
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Task1_train_17019
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This mutation occurs in VWF (von Willebrand factor) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; von Willebrand disease type 2
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CAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACA
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CAAAAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCGGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACA
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Task1_train_17020
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Here is a genetic alteration in VWF (von Willebrand factor) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Hereditary von Willebrand disease
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AAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCT
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AAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCAGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCT
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Task1_train_17021
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Here is a mutation in VWF (von Willebrand factor) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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AAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCT
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AAACAAAGAAACAAAAGTACTGACAAGTGTGTGACTCAAAAGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCTGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCT
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Task1_train_17022
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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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AGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGAC
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AGATACTAAAAGAAGGCTTATTATTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAGCTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGAC
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Task1_train_17023
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A variant was discovered in gene VWF (von Willebrand factor), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; von Willebrand disease type 2M
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TTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAA
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TTCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGAAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAA
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Task1_train_17024
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This variant lies on Chromosome 12 and affects the gene VWF (von Willebrand factor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; von Willebrand disease type 2
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TCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAA
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TCTGGGATGGTCCCAAACACACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGGGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAA
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Task1_train_17025
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A mutation in VWF (von Willebrand factor), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; von Willebrand disease type 2
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GAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCAGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCA
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GAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTCTGACTCCAGTGTCTGAAGACTGCACCTGCTACCTGACACCTGACATCCTGGTCTTGCCCTGAAGAATGTCAGCTACTCGGAATAATTTCACCCACCCAGTGTGGTCAAAATGAAGCTTATCATCACCACCTTTAACAGAGGTTACCTTGAAGGCAGAGGGTGGAATTGGGTGGGGAAGAGGCTGTGTGATAAAGTAAGACTTGCATTTTTTTTTTTTTTTTACTCCTTATTGGCATTGTTTAAATGTTAACAATAGGCTTCCATTACCTTTGAATTTATAGAAGCACACACAATAAGAAAAGATCTTCCCCCGAAAAAGGATCACAGTTTGTCTCCCTGCCAGGGAGGTGAGGAAACACAGGCCCTTTGAAGGCAAGTTTCAACCAAGGCCACACAGACCAGGGAAGCCAGGATTAGAACCCGAGTCGTATCTTGGCAGATGCATGTAGCACCAAGGCCATGCCAGCCCTCGCCCAGCCCTCCCACCTGCACACAAGGTGCCAGCATACCAGGTGCAGGGGAGAGGGTGGGGATCTGCAGCCCCTCTCCGGAGCAGCACCTCTGCAGCACCAGGTCAGGAGCCTCTCGGGGGAGCGTCTCAAAGTCCTGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATCAGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCTCGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGATGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCCACTTCTGGGAGATGCGCAGCCGCTCCATCATGTCCACCACAAAGGCCTTCAGCACTTCAAACTCAGCCTCGGACAGCCTGGAGGAGCCATCCAGCAGGAAGACCAGGTCCAGTAGCCTGCTGCGGTAGAAATCGTGCAACGGCGGTTCCGAGATGTCCTCCACATACAGAGTGGTGGGGCTCACCGGGGCATCTGTGGGAGGCACCACCAGGCCTCCCGGCTCCTGGCAGGCTTCACAGGTGAGGTTGACAACATCACAGTGGCTGCAGAAAAGAGCGAAGAAATTAAAATGGTTCAGGAAGAACCTGTGGACACTTCTGAGCCCTACAGTGTACAATGACTTCCATATTCCCACAGAATCTCCTCTGTTCCACCTGAACTTGAGATCCCATGGACCATTCCACATCCAAGTGAGATGTCATTGTTTAACATCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCA
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Task1_train_17026
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Here is a variant affecting VWF (von Willebrand factor) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; von Willebrand disease type 1
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TCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTATAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTG
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TCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAATGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTATAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTG
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Task1_train_17027
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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; Hereditary von Willebrand disease
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TCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTATAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTG
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TCTGTCCCCAAATAGCATGCCCCCCACCTTCAAAACACACACATAGCCGACTTCCTTTGATTCTAGAAACCAAAGCTTTAGCCCATCCTAGGATATGAAAAAATATACTCGTTGTTCTAGGCCATCCACACAACCACTCAAAGCTGATTTCTTTTCAACCTACATCTTTAGCAACATGAATACTTAATTATAATCCAAGCCTTCTTACAAGTGTCTCCAAGAACAAATGTTACTAAAATGTAGACGCTAACCTGTGTTTGTACATGTTCTGTTGAAGATAAATGCTTTACAGTACATATTCTAACAGAATGTAAATTGCATGAGTTTTAAAACATGTTTGATATGTTGGGCCCTAACGAAGAGAGAAAAAATTGGAGCAAAAACATTGTAGAAAGATGAATAAAGATTCAAAACCCCAGCTTTATCTAGCAGAACAAATTATTTGGGAGTAGCAGACAGGGGTCTCCACGGTGTCAGGCCTAGGAAAAGACATTCACTCATTCCTCCAGCAGACATAGGGTGAGCACCTCTCATGTGCCAGGTACTGGCCAGGCTCTGTGCCCAGCCCCAAGCACACACCACAAGTCTGTAGTAGAGCAGTGGCCCCCCACACACAAATTCCTACACTACCATGCCAAATTTCCAGGCTCTGCTGGTAACATCACCTTTTTGCCAGTGTCCCGGAAAGTGGCACGGCCTGCCAGCCCACAGGTGAAATCAAGTGACCGTGTGGTGGAGACCAATATGGGCCAGGACCATCTCCTCTTTGGACTCTCAGCCTTGGAGGCACCTGGCCTTCAGCACTCCCAGTAAAGCTGACAAGGCGGCAGCGCCCTGAGCCTGGGAAGTGTCCCCCTGCGGCTTGATACCAGGTGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAATGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTATAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTG
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Task1_train_17028
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The gene VWF (von Willebrand factor) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Von Willebrand disease type 2A
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TGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTATAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTG
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TGATGCCACCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACGGCTGTTATAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTG
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Task1_train_17029
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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 2A
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CCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTATAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGT
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CCAGCCTGCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTACAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGT
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Task1_train_17030
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This alteration in VWF (von Willebrand factor) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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GCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTATAGCGCCACTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGT
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GCTGTGGGACTTCTGTCCACACACTGCTTGCAGCTTCAGCGTGCACCGTGGCAGCTGCCCCTGCCCGTGTGCCAGCAAAGGAGGTGGGGAGAGGGCTCGAAGCTCTCATGCCCTTTTGGCACAGAACCCCAAGCCAGCATCAGAATCACCCAGTCCTTTGCTCCCTACAGTCTCTGTTTCAGCATAAAGAGTGTGCGCAGGTAGAGTCTTACTAGGAAGTTAATTCCTCCTTCCCGTGATCCACAAGATTTATTGCTTCAATCCTTGGTTAACAGTGCATGAGTGACATACTTTCTAGTTTCCTGTGTTTGCTAGAAAACTCACCCCAGGCAGTGTTCATTCTTGTTTGTACAGATGGTGGCGGCAGGATCTGACTCTAGCAGCTGTGACCATAGCCCCTCCCCAGCGAATTTACGTTCTCAAGTTTAAGCTCCCAGAAGGCTTGATTAGTGTCAGGGAGTGGTGTTGAATAGATCTGGATTTTAATAAATGCTCCCTACTTATGAGCAGGACTTCAGAGGGCTCAGAGCTCACCCTGAGGACTCCTTCTCACCTCCCCAAAGGCCAGTTTCCCAGAGGCAAGTCCAGTGAGAAGCCAGGGTGAGAGCAACGAGCACCTTCCCTCCCCATTATGACAGCCACACCCTGCCACCTTGACTATGGCCCCCACGACGTTCATGTTACCTGAGGGCCCTGGGTTCCATCTCACTTTCCTCTCCTGAGTCCCCACCTCCAGTATATGGACACCTGTGCTCAGACTAGTCATGACCTACAAGGACAATAAGTGACCATACCCCCACCTTCAGTGAGAAAAGCAAAAACCTGTTAGGACTTAAAAACCTATTAAGAGCAAAAACACTGTGGAGGAATATATGTGGAGGAAGCAGTCTAGTCCATCCCTAAAGAAAAAGAAGCAAACCCTAGGAACAAACAAAACAATAAACTACATTAAATAATGAATTAAATAAATAAACAAATAAAATAAACTCAGTCTCTCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAACCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACTCCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCTCTCCTGCTTGTGCCTTGATTGATCCCTCTGCAAAACTGGGAGCGGGGATTCCTTCACCCTACCTCACCTCCCCAAGCCTCAGGACAAATGAAATCTTATCTCCGGGGCTCTTTCTGCTCTTCTGAATAACACCTTCAGTAACTCTAGAGCTGTGCTGTACCATAGGATCGTCACAAACTGCGTGTGGCTATTTACGTTAAATTAAGTAAAATTCAATAAAATTCAAAACTTCAGTTCCTCAGACACACTCGTCACAGTTACATTCAATACAACATTCCCCCACTGCAGAAAGTTCTATCGGCAGGGGCTGCTTTAGGTGAGAATCCCATAAATAGGCACAGAAAAGCATTTTGGAGGAGCTCGACTTGAGAAAAATCACGACTGTCCTGACTCTGATGAAAGAACCCACGGAACCTGCAGCAGCCTTGCAGGTCAGAGATAGGACGTGGCAGGTGGAGGCTGAGATGAAGCAAGACCTAGAAGCACCTTTCCATCCATCCCTATCCCATCCCACCAGCCTGACCCCCAGGGATAGAGGCCTCACCTGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGGGTGCTGACACGTGACTTGACAGGCAGGTGCACAGCTGTTATAGCGCCCCTCACACTCATACCCGTTCTCCCGGAGATTCCTCTCCTCGCAGCTCTGGGCTGTGTAGACAGGAGACAAGGCTGTGGCCACAACAGGCAAAGCCTCCAGGACTGCAGACCCATGTGGTGATGGCCTGCGCCATCTGGAGATAATGTTGGGGAACTAGGGGACTATGGGCGTCACCAATATTAGAGACTTCTGGATTGTTGAAGCACCTAAACCAGAATCTATTGGTTCTGAATTCATTTCTTTTTTTAATTTTTGTACAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCTGGCCTCAGCCTCCCAAAACACAGGGATTACAGGTATGAGTCACTGTGCCCGGCCCAGTTTTCTACATAAAAACATTAAGTTGCTTCTGTCCAAAGAAGCAAGATTCTATAGACATGAATGTATGAGTTGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCCTGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGCCAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCACAAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGT
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Task1_train_17031
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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; von Willebrand disease type 1
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ATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCTGCACTAAGCCAAGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAGAGAGACAACTGCACTTAACCTTGCGGAATTCCTCCTTGTCATTAGAGATGAAGACACAAAAATAAGTCATAATACGAGGACTCAAAATCACCAAAATTAAGGCCAGAAAAGAATTTCTGTGAGACAAGAAATGGGCACCAAGGGGTTTTAGGGGGTGGGAGAGGAAGGTCTTTTGGTCTGGACAAATGCAGCAGTGACAGGAAAAGGAAATCTCTGGCTCTGGTGTTGAAAACAAGATACTTCAATAAGAGAACAAATCCTAAGACTGGGGCTGAAAGAGAAGCATTGGCACATGCCAAGGGGAGTTACTTCTCATGCAGAAGGAAATGTTTTGCCAGGCATTGCTTCCCCTAGAAACTGTTGATTTTACTTTTTGTTTCCCAGATTGAAAGCCAAGAAAAAAAGCCGAAGTGGTGTCTTGGTGCAGATCATGTCAAGACACGAGGGTAGTGTCCACGTTAGAAGGTCACACTCTGTGTCCATACCACCAGGCCAAGCCTTGGGACCGTCTGCTTCCCACTACCCTCAAGGTCCTCACCAGCTTGTTGCAGTCCTGGAAGACGTCACTGGTAAGGATTCTACAGGAGGAATCCACCATCGTCTGCTTCATGATGTTGTTATGGCAGGTGGCAGGGGATGAGTCCAGAGGCACCTGGGAACCAGGCAAGAGATAGGCCAGCCGTCAGCTGGTCAAACTGGGGTTATTCAGCCCAGAAGGATCCAAGAGACCCTCCTTCCCACCCTGCAGCCACCTGGAGGTCATACCACCCACAACCCCCCTTCCAGCCCCCATGACAATGGGGACAGAGGGACATTCCAGGAAGCAAGCTCTAGGGCTCTGTCCACACAGAGACCCAGACGTACTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGTCTTCCTCCACTTGGAGGTTGCTGCTGGTGAGGTCATTGTTCTGGATGCCATCAAAATTCCCACACAGGCCACACACTTTCTCCTTGAGAGACAAGTTGAGGGATGAGCACCGTCAAGCCCAGGAGCATGCTCTCCGGCTCAGGGGAAAGGGGAACATTCCTGGCGGCAATGGAGGCAGAGGGCATTCGAGGAAGAGGAGGAGGAGCGGGACAGAGACTCAGAGGAGGCCCGAGGTGAGCAGCAAAGCCTTGCCATTGCCAAGACCCATTCCTGAGCTTCCTTGCTGGCCCCATTTTATTTAAAGCTATGGAAACAGAGAGGCAACATGCCCATGTCACATAGTCAGCCAAGGGCAGAGGTGGGAATCAGGCAGCCTTGGCCCTGAGATCACTGGTGGGAACTATCACTGTCCCCAACAAGCATAGAAGCAGAGAGAGGAGCCAGGTACACTGCTCCACCAATGGAGGTGTAGGGGTCCAAGGAGGGAAAGTTATAGAACTGCCTGCCTCTGGGAAGGTGAGTCCCCTTGCCTGGAGAAGTGCAGCCTGTTCAGAGTAGGCTGGGCAGAATTCTGCTCTCTCATAAATGTAATCAGGAAGATATGTCTCACCTGTCTCCATGTTCACCCATCATGGAGTGCAACATGCAACAAGTTCTGAAAAAGTAGTTACGAATGAGTGAGAAACAAGTGAAAACTACACAAAGAGGAGGGATAAGTTCTAGTGTTCGGTAGCACCACAGGGTGACTATAATTATCAACAGTTTATTGTATATTTTCAAGTAGCTGGAAGAGCAGACTTTGAATGTTCCCAACACAAAGAAATGGTAAATGTTTGAGGGAACAGATATAGTAACTACCCTGATTTGATCACTACACACTGTATACATGTACTGAAATATCACACTGTCACCAGTAAATACATACAGTTAAATGTCAACTAAAAATAATAATAAAACAAAAAAACTACAGAAAAAACTGGAAATATTTGGCCTGGAGAAGAAAAGGTGCTATACTTTTACAATATACTTAGAGCCCTGATGTTGAGACAAAGAGAAAAAATGTATTCTATCTTGCTTCAATAAGCTGCATTCAGCTTGGTACAAGGGGTGTAAGTCACCAGGAAACATAGAGGAAGAATGTTCTCACTGTTGGGCAAAAGGCCAACGATCTTCCCATGGCCTAGTAGCCCCCATGGTATGGCTACTGCCCCTCCCTGCCCTCGTGAACTACCATTACCCCCAAGTCCCTCCTCTGTAGCCACACTGACCTCCTTGTACAACGGCTGCAGACACCTACCACCTTAAGGCCTCGGCACGTGCTTGTTCCGTCTGCCTAAACTCTCTCCCCTAGATACTGGCATGACTCATTCCCTCCCTTCCCCAAAGATTCTGCTCTTACATCCCCTCTTCACAGGGCTCATCAGCCCAAACTATCTATAGTAACATTCCTGCTAGGATATAATCTGCACCAGGATTATGGAAGGCAAAACAGTGGCTCCCATGGGATGAAGAGTTTAACCTGGATTATCTGTGTGGGCTGAATGTCATCACAGGGTCTGATCAGAGGGAGGCAGGAGGGTCAGAGTTCAAAAGGTGCTGTGACAGACAGAAGCAGAAAAGGAGAAAAAAAGTAGAAGATGCTACATTGCCAGCGTTGAATATGGAGGATGGGGCCACAAGCCAAGAATGCAGGCAGCCTCCGGAAT
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ATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCTGCACTAAGCCAAGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAGAGAGACAACTGCACTTAACCTTGCGGAATTCCTCCTTGTCATTAGAGATGAAGACACAAAAATAAGTCATAATACGAGGACTCAAAATCACCAAAATTAAGGCCAGAAAAGAATTTCTGTGAGACAAGAAATGGGCACCAAGGGGTTTTAGGGGGTGGGAGAGGAAGGTCTTTTGGTCTGGACAAATGCAGCAGTGACAGGAAAAGGAAATCTCTGGCTCTGGTGTTGAAAACAAGATACTTCAATAAGAGAACAAATCCTAAGACTGGGGCTGAAAGAGAAGCATTGGCACATGCCAAGGGGAGTTACTTCTCATGCAGAAGGAAATGTTTTGCCAGGCATTGCTTCCCCTAGAAACTGTTGATTTTACTTTTTGTTTCCCAGATTGAAAGCCAAGAAAAAAAGCCGAAGTGGTGTCTTGGTGCAGATCATGTCAAGACACGAGGGTAGTGTCCACGTTAGAAGGTCACACTCTGTGTCCATACCACCAGGCCAAGCCTTGGGACCGTCTGCTTCCCACTACCCTCAAGGTCCTCACCAGCTTGTTGCAGTCCTGGAAGACGTCACTGGTAAGGATTCTATAGGAGGAATCCACCATCGTCTGCTTCATGATGTTGTTATGGCAGGTGGCAGGGGATGAGTCCAGAGGCACCTGGGAACCAGGCAAGAGATAGGCCAGCCGTCAGCTGGTCAAACTGGGGTTATTCAGCCCAGAAGGATCCAAGAGACCCTCCTTCCCACCCTGCAGCCACCTGGAGGTCATACCACCCACAACCCCCCTTCCAGCCCCCATGACAATGGGGACAGAGGGACATTCCAGGAAGCAAGCTCTAGGGCTCTGTCCACACAGAGACCCAGACGTACTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGTCTTCCTCCACTTGGAGGTTGCTGCTGGTGAGGTCATTGTTCTGGATGCCATCAAAATTCCCACACAGGCCACACACTTTCTCCTTGAGAGACAAGTTGAGGGATGAGCACCGTCAAGCCCAGGAGCATGCTCTCCGGCTCAGGGGAAAGGGGAACATTCCTGGCGGCAATGGAGGCAGAGGGCATTCGAGGAAGAGGAGGAGGAGCGGGACAGAGACTCAGAGGAGGCCCGAGGTGAGCAGCAAAGCCTTGCCATTGCCAAGACCCATTCCTGAGCTTCCTTGCTGGCCCCATTTTATTTAAAGCTATGGAAACAGAGAGGCAACATGCCCATGTCACATAGTCAGCCAAGGGCAGAGGTGGGAATCAGGCAGCCTTGGCCCTGAGATCACTGGTGGGAACTATCACTGTCCCCAACAAGCATAGAAGCAGAGAGAGGAGCCAGGTACACTGCTCCACCAATGGAGGTGTAGGGGTCCAAGGAGGGAAAGTTATAGAACTGCCTGCCTCTGGGAAGGTGAGTCCCCTTGCCTGGAGAAGTGCAGCCTGTTCAGAGTAGGCTGGGCAGAATTCTGCTCTCTCATAAATGTAATCAGGAAGATATGTCTCACCTGTCTCCATGTTCACCCATCATGGAGTGCAACATGCAACAAGTTCTGAAAAAGTAGTTACGAATGAGTGAGAAACAAGTGAAAACTACACAAAGAGGAGGGATAAGTTCTAGTGTTCGGTAGCACCACAGGGTGACTATAATTATCAACAGTTTATTGTATATTTTCAAGTAGCTGGAAGAGCAGACTTTGAATGTTCCCAACACAAAGAAATGGTAAATGTTTGAGGGAACAGATATAGTAACTACCCTGATTTGATCACTACACACTGTATACATGTACTGAAATATCACACTGTCACCAGTAAATACATACAGTTAAATGTCAACTAAAAATAATAATAAAACAAAAAAACTACAGAAAAAACTGGAAATATTTGGCCTGGAGAAGAAAAGGTGCTATACTTTTACAATATACTTAGAGCCCTGATGTTGAGACAAAGAGAAAAAATGTATTCTATCTTGCTTCAATAAGCTGCATTCAGCTTGGTACAAGGGGTGTAAGTCACCAGGAAACATAGAGGAAGAATGTTCTCACTGTTGGGCAAAAGGCCAACGATCTTCCCATGGCCTAGTAGCCCCCATGGTATGGCTACTGCCCCTCCCTGCCCTCGTGAACTACCATTACCCCCAAGTCCCTCCTCTGTAGCCACACTGACCTCCTTGTACAACGGCTGCAGACACCTACCACCTTAAGGCCTCGGCACGTGCTTGTTCCGTCTGCCTAAACTCTCTCCCCTAGATACTGGCATGACTCATTCCCTCCCTTCCCCAAAGATTCTGCTCTTACATCCCCTCTTCACAGGGCTCATCAGCCCAAACTATCTATAGTAACATTCCTGCTAGGATATAATCTGCACCAGGATTATGGAAGGCAAAACAGTGGCTCCCATGGGATGAAGAGTTTAACCTGGATTATCTGTGTGGGCTGAATGTCATCACAGGGTCTGATCAGAGGGAGGCAGGAGGGTCAGAGTTCAAAAGGTGCTGTGACAGACAGAAGCAGAAAAGGAGAAAAAAAGTAGAAGATGCTACATTGCCAGCGTTGAATATGGAGGATGGGGCCACAAGCCAAGAATGCAGGCAGCCTCCGGAAT
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Task1_train_17032
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Given this context: Chromosome 12, gene VWF (von Willebrand factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; von Willebrand disease type 2
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ATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCTGCACTAAGCCAAGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAGAGAGACAACTGCACTTAACCTTGCGGAATTCCTCCTTGTCATTAGAGATGAAGACACAAAAATAAGTCATAATACGAGGACTCAAAATCACCAAAATTAAGGCCAGAAAAGAATTTCTGTGAGACAAGAAATGGGCACCAAGGGGTTTTAGGGGGTGGGAGAGGAAGGTCTTTTGGTCTGGACAAATGCAGCAGTGACAGGAAAAGGAAATCTCTGGCTCTGGTGTTGAAAACAAGATACTTCAATAAGAGAACAAATCCTAAGACTGGGGCTGAAAGAGAAGCATTGGCACATGCCAAGGGGAGTTACTTCTCATGCAGAAGGAAATGTTTTGCCAGGCATTGCTTCCCCTAGAAACTGTTGATTTTACTTTTTGTTTCCCAGATTGAAAGCCAAGAAAAAAAGCCGAAGTGGTGTCTTGGTGCAGATCATGTCAAGACACGAGGGTAGTGTCCACGTTAGAAGGTCACACTCTGTGTCCATACCACCAGGCCAAGCCTTGGGACCGTCTGCTTCCCACTACCCTCAAGGTCCTCACCAGCTTGTTGCAGTCCTGGAAGACGTCACTGGTAAGGATTCTACAGGAGGAATCCACCATCGTCTGCTTCATGATGTTGTTATGGCAGGTGGCAGGGGATGAGTCCAGAGGCACCTGGGAACCAGGCAAGAGATAGGCCAGCCGTCAGCTGGTCAAACTGGGGTTATTCAGCCCAGAAGGATCCAAGAGACCCTCCTTCCCACCCTGCAGCCACCTGGAGGTCATACCACCCACAACCCCCCTTCCAGCCCCCATGACAATGGGGACAGAGGGACATTCCAGGAAGCAAGCTCTAGGGCTCTGTCCACACAGAGACCCAGACGTACTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGTCTTCCTCCACTTGGAGGTTGCTGCTGGTGAGGTCATTGTTCTGGATGCCATCAAAATTCCCACACAGGCCACACACTTTCTCCTTGAGAGACAAGTTGAGGGATGAGCACCGTCAAGCCCAGGAGCATGCTCTCCGGCTCAGGGGAAAGGGGAACATTCCTGGCGGCAATGGAGGCAGAGGGCATTCGAGGAAGAGGAGGAGGAGCGGGACAGAGACTCAGAGGAGGCCCGAGGTGAGCAGCAAAGCCTTGCCATTGCCAAGACCCATTCCTGAGCTTCCTTGCTGGCCCCATTTTATTTAAAGCTATGGAAACAGAGAGGCAACATGCCCATGTCACATAGTCAGCCAAGGGCAGAGGTGGGAATCAGGCAGCCTTGGCCCTGAGATCACTGGTGGGAACTATCACTGTCCCCAACAAGCATAGAAGCAGAGAGAGGAGCCAGGTACACTGCTCCACCAATGGAGGTGTAGGGGTCCAAGGAGGGAAAGTTATAGAACTGCCTGCCTCTGGGAAGGTGAGTCCCCTTGCCTGGAGAAGTGCAGCCTGTTCAGAGTAGGCTGGGCAGAATTCTGCTCTCTCATAAATGTAATCAGGAAGATATGTCTCACCTGTCTCCATGTTCACCCATCATGGAGTGCAACATGCAACAAGTTCTGAAAAAGTAGTTACGAATGAGTGAGAAACAAGTGAAAACTACACAAAGAGGAGGGATAAGTTCTAGTGTTCGGTAGCACCACAGGGTGACTATAATTATCAACAGTTTATTGTATATTTTCAAGTAGCTGGAAGAGCAGACTTTGAATGTTCCCAACACAAAGAAATGGTAAATGTTTGAGGGAACAGATATAGTAACTACCCTGATTTGATCACTACACACTGTATACATGTACTGAAATATCACACTGTCACCAGTAAATACATACAGTTAAATGTCAACTAAAAATAATAATAAAACAAAAAAACTACAGAAAAAACTGGAAATATTTGGCCTGGAGAAGAAAAGGTGCTATACTTTTACAATATACTTAGAGCCCTGATGTTGAGACAAAGAGAAAAAATGTATTCTATCTTGCTTCAATAAGCTGCATTCAGCTTGGTACAAGGGGTGTAAGTCACCAGGAAACATAGAGGAAGAATGTTCTCACTGTTGGGCAAAAGGCCAACGATCTTCCCATGGCCTAGTAGCCCCCATGGTATGGCTACTGCCCCTCCCTGCCCTCGTGAACTACCATTACCCCCAAGTCCCTCCTCTGTAGCCACACTGACCTCCTTGTACAACGGCTGCAGACACCTACCACCTTAAGGCCTCGGCACGTGCTTGTTCCGTCTGCCTAAACTCTCTCCCCTAGATACTGGCATGACTCATTCCCTCCCTTCCCCAAAGATTCTGCTCTTACATCCCCTCTTCACAGGGCTCATCAGCCCAAACTATCTATAGTAACATTCCTGCTAGGATATAATCTGCACCAGGATTATGGAAGGCAAAACAGTGGCTCCCATGGGATGAAGAGTTTAACCTGGATTATCTGTGTGGGCTGAATGTCATCACAGGGTCTGATCAGAGGGAGGCAGGAGGGTCAGAGTTCAAAAGGTGCTGTGACAGACAGAAGCAGAAAAGGAGAAAAAAAGTAGAAGATGCTACATTGCCAGCGTTGAATATGGAGGATGGGGCCACAAGCCAAGAATGCAGGCAGCCTCCGGAAT
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ATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCTGCACTAAGCCAAGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAGAGAGACAACTGCACTTAACCTTGCGGAATTCCTCCTTGTCATTAGAGATGAAGACACAAAAATAAGTCATAATACGAGGACTCAAAATCACCAAAATTAAGGCCAGAAAAGAATTTCTGTGAGACAAGAAATGGGCACCAAGGGGTTTTAGGGGGTGGGAGAGGAAGGTCTTTTGGTCTGGACAAATGCAGCAGTGACAGGAAAAGGAAATCTCTGGCTCTGGTGTTGAAAACAAGATACTTCAATAAGAGAACAAATCCTAAGACTGGGGCTGAAAGAGAAGCATTGGCACATGCCAAGGGGAGTTACTTCTCATGCAGAAGGAAATGTTTTGCCAGGCATTGCTTCCCCTAGAAACTGTTGATTTTACTTTTTGTTTCCCAGATTGAAAGCCAAGAAAAAAAGCCGAAGTGGTGTCTTGGTGCAGATCATGTCAAGACACGAGGGTAGTGTCCACGTTAGAAGGTCACACTCTGTGTCCATACCACCAGGCCAAGCCTTGGGACCGTCTGCTTCCCACTACCCTCAAGGTCCTCACCAGCTTGTTGCAGTCCTGGAAGACGTCACTGGTAAGGATTCTATAGGAGGAATCCACCATCGTCTGCTTCATGATGTTGTTATGGCAGGTGGCAGGGGATGAGTCCAGAGGCACCTGGGAACCAGGCAAGAGATAGGCCAGCCGTCAGCTGGTCAAACTGGGGTTATTCAGCCCAGAAGGATCCAAGAGACCCTCCTTCCCACCCTGCAGCCACCTGGAGGTCATACCACCCACAACCCCCCTTCCAGCCCCCATGACAATGGGGACAGAGGGACATTCCAGGAAGCAAGCTCTAGGGCTCTGTCCACACAGAGACCCAGACGTACTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGTCTTCCTCCACTTGGAGGTTGCTGCTGGTGAGGTCATTGTTCTGGATGCCATCAAAATTCCCACACAGGCCACACACTTTCTCCTTGAGAGACAAGTTGAGGGATGAGCACCGTCAAGCCCAGGAGCATGCTCTCCGGCTCAGGGGAAAGGGGAACATTCCTGGCGGCAATGGAGGCAGAGGGCATTCGAGGAAGAGGAGGAGGAGCGGGACAGAGACTCAGAGGAGGCCCGAGGTGAGCAGCAAAGCCTTGCCATTGCCAAGACCCATTCCTGAGCTTCCTTGCTGGCCCCATTTTATTTAAAGCTATGGAAACAGAGAGGCAACATGCCCATGTCACATAGTCAGCCAAGGGCAGAGGTGGGAATCAGGCAGCCTTGGCCCTGAGATCACTGGTGGGAACTATCACTGTCCCCAACAAGCATAGAAGCAGAGAGAGGAGCCAGGTACACTGCTCCACCAATGGAGGTGTAGGGGTCCAAGGAGGGAAAGTTATAGAACTGCCTGCCTCTGGGAAGGTGAGTCCCCTTGCCTGGAGAAGTGCAGCCTGTTCAGAGTAGGCTGGGCAGAATTCTGCTCTCTCATAAATGTAATCAGGAAGATATGTCTCACCTGTCTCCATGTTCACCCATCATGGAGTGCAACATGCAACAAGTTCTGAAAAAGTAGTTACGAATGAGTGAGAAACAAGTGAAAACTACACAAAGAGGAGGGATAAGTTCTAGTGTTCGGTAGCACCACAGGGTGACTATAATTATCAACAGTTTATTGTATATTTTCAAGTAGCTGGAAGAGCAGACTTTGAATGTTCCCAACACAAAGAAATGGTAAATGTTTGAGGGAACAGATATAGTAACTACCCTGATTTGATCACTACACACTGTATACATGTACTGAAATATCACACTGTCACCAGTAAATACATACAGTTAAATGTCAACTAAAAATAATAATAAAACAAAAAAACTACAGAAAAAACTGGAAATATTTGGCCTGGAGAAGAAAAGGTGCTATACTTTTACAATATACTTAGAGCCCTGATGTTGAGACAAAGAGAAAAAATGTATTCTATCTTGCTTCAATAAGCTGCATTCAGCTTGGTACAAGGGGTGTAAGTCACCAGGAAACATAGAGGAAGAATGTTCTCACTGTTGGGCAAAAGGCCAACGATCTTCCCATGGCCTAGTAGCCCCCATGGTATGGCTACTGCCCCTCCCTGCCCTCGTGAACTACCATTACCCCCAAGTCCCTCCTCTGTAGCCACACTGACCTCCTTGTACAACGGCTGCAGACACCTACCACCTTAAGGCCTCGGCACGTGCTTGTTCCGTCTGCCTAAACTCTCTCCCCTAGATACTGGCATGACTCATTCCCTCCCTTCCCCAAAGATTCTGCTCTTACATCCCCTCTTCACAGGGCTCATCAGCCCAAACTATCTATAGTAACATTCCTGCTAGGATATAATCTGCACCAGGATTATGGAAGGCAAAACAGTGGCTCCCATGGGATGAAGAGTTTAACCTGGATTATCTGTGTGGGCTGAATGTCATCACAGGGTCTGATCAGAGGGAGGCAGGAGGGTCAGAGTTCAAAAGGTGCTGTGACAGACAGAAGCAGAAAAGGAGAAAAAAAGTAGAAGATGCTACATTGCCAGCGTTGAATATGGAGGATGGGGCCACAAGCCAAGAATGCAGGCAGCCTCCGGAAT
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Task1_train_17033
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Mutation context: Chromosome 12, Gene VWF (von Willebrand factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; von Willebrand disease type 2N
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TAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCTGCACTAAGCCAAGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAGAGAGACAACTGCACTTAACCTTGCGGAATTCCTCCTTGTCATTAGAGATGAAGACACAAAAATAAGTCATAATACGAGGACTCAAAATCACCAAAATTAAGGCCAGAAAAGAATTTCTGTGAGACAAGAAATGGGCACCAAGGGGTTTTAGGGGGTGGGAGAGGAAGGTCTTTTGGTCTGGACAAATGCAGCAGTGACAGGAAAAGGAAATCTCTGGCTCTGGTGTTGAAAACAAGATACTTCAATAAGAGAACAAATCCTAAGACTGGGGCTGAAAGAGAAGCATTGGCACATGCCAAGGGGAGTTACTTCTCATGCAGAAGGAAATGTTTTGCCAGGCATTGCTTCCCCTAGAAACTGTTGATTTTACTTTTTGTTTCCCAGATTGAAAGCCAAGAAAAAAAGCCGAAGTGGTGTCTTGGTGCAGATCATGTCAAGACACGAGGGTAGTGTCCACGTTAGAAGGTCACACTCTGTGTCCATACCACCAGGCCAAGCCTTGGGACCGTCTGCTTCCCACTACCCTCAAGGTCCTCACCAGCTTGTTGCAGTCCTGGAAGACGTCACTGGTAAGGATTCTACAGGAGGAATCCACCATCGTCTGCTTCATGATGTTGTTATGGCAGGTGGCAGGGGATGAGTCCAGAGGCACCTGGGAACCAGGCAAGAGATAGGCCAGCCGTCAGCTGGTCAAACTGGGGTTATTCAGCCCAGAAGGATCCAAGAGACCCTCCTTCCCACCCTGCAGCCACCTGGAGGTCATACCACCCACAACCCCCCTTCCAGCCCCCATGACAATGGGGACAGAGGGACATTCCAGGAAGCAAGCTCTAGGGCTCTGTCCACACAGAGACCCAGACGTACTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGTCTTCCTCCACTTGGAGGTTGCTGCTGGTGAGGTCATTGTTCTGGATGCCATCAAAATTCCCACACAGGCCACACACTTTCTCCTTGAGAGACAAGTTGAGGGATGAGCACCGTCAAGCCCAGGAGCATGCTCTCCGGCTCAGGGGAAAGGGGAACATTCCTGGCGGCAATGGAGGCAGAGGGCATTCGAGGAAGAGGAGGAGGAGCGGGACAGAGACTCAGAGGAGGCCCGAGGTGAGCAGCAAAGCCTTGCCATTGCCAAGACCCATTCCTGAGCTTCCTTGCTGGCCCCATTTTATTTAAAGCTATGGAAACAGAGAGGCAACATGCCCATGTCACATAGTCAGCCAAGGGCAGAGGTGGGAATCAGGCAGCCTTGGCCCTGAGATCACTGGTGGGAACTATCACTGTCCCCAACAAGCATAGAAGCAGAGAGAGGAGCCAGGTACACTGCTCCACCAATGGAGGTGTAGGGGTCCAAGGAGGGAAAGTTATAGAACTGCCTGCCTCTGGGAAGGTGAGTCCCCTTGCCTGGAGAAGTGCAGCCTGTTCAGAGTAGGCTGGGCAGAATTCTGCTCTCTCATAAATGTAATCAGGAAGATATGTCTCACCTGTCTCCATGTTCACCCATCATGGAGTGCAACATGCAACAAGTTCTGAAAAAGTAGTTACGAATGAGTGAGAAACAAGTGAAAACTACACAAAGAGGAGGGATAAGTTCTAGTGTTCGGTAGCACCACAGGGTGACTATAATTATCAACAGTTTATTGTATATTTTCAAGTAGCTGGAAGAGCAGACTTTGAATGTTCCCAACACAAAGAAATGGTAAATGTTTGAGGGAACAGATATAGTAACTACCCTGATTTGATCACTACACACTGTATACATGTACTGAAATATCACACTGTCACCAGTAAATACATACAGTTAAATGTCAACTAAAAATAATAATAAAACAAAAAAACTACAGAAAAAACTGGAAATATTTGGCCTGGAGAAGAAAAGGTGCTATACTTTTACAATATACTTAGAGCCCTGATGTTGAGACAAAGAGAAAAAATGTATTCTATCTTGCTTCAATAAGCTGCATTCAGCTTGGTACAAGGGGTGTAAGTCACCAGGAAACATAGAGGAAGAATGTTCTCACTGTTGGGCAAAAGGCCAACGATCTTCCCATGGCCTAGTAGCCCCCATGGTATGGCTACTGCCCCTCCCTGCCCTCGTGAACTACCATTACCCCCAAGTCCCTCCTCTGTAGCCACACTGACCTCCTTGTACAACGGCTGCAGACACCTACCACCTTAAGGCCTCGGCACGTGCTTGTTCCGTCTGCCTAAACTCTCTCCCCTAGATACTGGCATGACTCATTCCCTCCCTTCCCCAAAGATTCTGCTCTTACATCCCCTCTTCACAGGGCTCATCAGCCCAAACTATCTATAGTAACATTCCTGCTAGGATATAATCTGCACCAGGATTATGGAAGGCAAAACAGTGGCTCCCATGGGATGAAGAGTTTAACCTGGATTATCTGTGTGGGCTGAATGTCATCACAGGGTCTGATCAGAGGGAGGCAGGAGGGTCAGAGTTCAAAAGGTGCTGTGACAGACAGAAGCAGAAAAGGAGAAAAAAAGTAGAAGATGCTACATTGCCAGCGTTGAATATGGAGGATGGGGCCACAAGCCAAGAATGCAGGCAGCCTCCGGAATG
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TAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCTCAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTGCTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCATCTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTTTGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAGGACAATAGGGCCTAGACTCTGATTCCAAATCCAGTTCAACCAGTTCCAACCCTTCCTCATCCCCAAAACACGCCTCTAAACACACTGGACTTTTTCAGGGCAGTTATGACAGAAAATGAATTCAGACACTGAGTGGGTCATTGTTTCCAAGACGTTCCAACAGTCTCAATGTCCCCAACTCCTCCCCTGTCCTCACTCTTCCAACTCAGATGCCCAGGATTTCCACCAAACCAGGGAATGTAAGTATCCTTTGGAGTCCTCAGAGACCGAAAATCACTGCATAGATAGAAAGAGAATTGAGATCCATGTTTTCAACCAGTCTCTCCCACATTGGTGGTGTTACACAGCAGCATGTATGTGTGCATGGCTGTGTGTGTACACAGACTTCTGTAGTCACATATGTCCATGTACAAGCCCATGTCCACATGTGTGTACACACATACATGCAGCAGATAAGAGACAACTGCACTATGGTCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGTCAGGAGTTCAAGGCCAGCCTGACCAACATGGTGAAACCTTGACTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCTGCACTAAGCCAAGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAGAGAGACAACTGCACTTAACCTTGCGGAATTCCTCCTTGTCATTAGAGATGAAGACACAAAAATAAGTCATAATACGAGGACTCAAAATCACCAAAATTAAGGCCAGAAAAGAATTTCTGTGAGACAAGAAATGGGCACCAAGGGGTTTTAGGGGGTGGGAGAGGAAGGTCTTTTGGTCTGGACAAATGCAGCAGTGACAGGAAAAGGAAATCTCTGGCTCTGGTGTTGAAAACAAGATACTTCAATAAGAGAACAAATCCTAAGACTGGGGCTGAAAGAGAAGCATTGGCACATGCCAAGGGGAGTTACTTCTCATGCAGAAGGAAATGTTTTGCCAGGCATTGCTTCCCCTAGAAACTGTTGATTTTACTTTTTGTTTCCCAGATTGAAAGCCAAGAAAAAAAGCCGAAGTGGTGTCTTGGTGCAGATCATGTCAAGACACGAGGGTAGTGTCCACGTTAGAAGGTCACACTCTGTGTCCATACCACCAGGCCAAGCCTTGGGACCGTCTGCTTCCCACTACCCTCAAGGTCCTCACCAGCTTGTTGCAGTCCTGGAAGACGTCACTGGTAAGGATTCTACGGGAGGAATCCACCATCGTCTGCTTCATGATGTTGTTATGGCAGGTGGCAGGGGATGAGTCCAGAGGCACCTGGGAACCAGGCAAGAGATAGGCCAGCCGTCAGCTGGTCAAACTGGGGTTATTCAGCCCAGAAGGATCCAAGAGACCCTCCTTCCCACCCTGCAGCCACCTGGAGGTCATACCACCCACAACCCCCCTTCCAGCCCCCATGACAATGGGGACAGAGGGACATTCCAGGAAGCAAGCTCTAGGGCTCTGTCCACACAGAGACCCAGACGTACTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGTCTTCCTCCACTTGGAGGTTGCTGCTGGTGAGGTCATTGTTCTGGATGCCATCAAAATTCCCACACAGGCCACACACTTTCTCCTTGAGAGACAAGTTGAGGGATGAGCACCGTCAAGCCCAGGAGCATGCTCTCCGGCTCAGGGGAAAGGGGAACATTCCTGGCGGCAATGGAGGCAGAGGGCATTCGAGGAAGAGGAGGAGGAGCGGGACAGAGACTCAGAGGAGGCCCGAGGTGAGCAGCAAAGCCTTGCCATTGCCAAGACCCATTCCTGAGCTTCCTTGCTGGCCCCATTTTATTTAAAGCTATGGAAACAGAGAGGCAACATGCCCATGTCACATAGTCAGCCAAGGGCAGAGGTGGGAATCAGGCAGCCTTGGCCCTGAGATCACTGGTGGGAACTATCACTGTCCCCAACAAGCATAGAAGCAGAGAGAGGAGCCAGGTACACTGCTCCACCAATGGAGGTGTAGGGGTCCAAGGAGGGAAAGTTATAGAACTGCCTGCCTCTGGGAAGGTGAGTCCCCTTGCCTGGAGAAGTGCAGCCTGTTCAGAGTAGGCTGGGCAGAATTCTGCTCTCTCATAAATGTAATCAGGAAGATATGTCTCACCTGTCTCCATGTTCACCCATCATGGAGTGCAACATGCAACAAGTTCTGAAAAAGTAGTTACGAATGAGTGAGAAACAAGTGAAAACTACACAAAGAGGAGGGATAAGTTCTAGTGTTCGGTAGCACCACAGGGTGACTATAATTATCAACAGTTTATTGTATATTTTCAAGTAGCTGGAAGAGCAGACTTTGAATGTTCCCAACACAAAGAAATGGTAAATGTTTGAGGGAACAGATATAGTAACTACCCTGATTTGATCACTACACACTGTATACATGTACTGAAATATCACACTGTCACCAGTAAATACATACAGTTAAATGTCAACTAAAAATAATAATAAAACAAAAAAACTACAGAAAAAACTGGAAATATTTGGCCTGGAGAAGAAAAGGTGCTATACTTTTACAATATACTTAGAGCCCTGATGTTGAGACAAAGAGAAAAAATGTATTCTATCTTGCTTCAATAAGCTGCATTCAGCTTGGTACAAGGGGTGTAAGTCACCAGGAAACATAGAGGAAGAATGTTCTCACTGTTGGGCAAAAGGCCAACGATCTTCCCATGGCCTAGTAGCCCCCATGGTATGGCTACTGCCCCTCCCTGCCCTCGTGAACTACCATTACCCCCAAGTCCCTCCTCTGTAGCCACACTGACCTCCTTGTACAACGGCTGCAGACACCTACCACCTTAAGGCCTCGGCACGTGCTTGTTCCGTCTGCCTAAACTCTCTCCCCTAGATACTGGCATGACTCATTCCCTCCCTTCCCCAAAGATTCTGCTCTTACATCCCCTCTTCACAGGGCTCATCAGCCCAAACTATCTATAGTAACATTCCTGCTAGGATATAATCTGCACCAGGATTATGGAAGGCAAAACAGTGGCTCCCATGGGATGAAGAGTTTAACCTGGATTATCTGTGTGGGCTGAATGTCATCACAGGGTCTGATCAGAGGGAGGCAGGAGGGTCAGAGTTCAAAAGGTGCTGTGACAGACAGAAGCAGAAAAGGAGAAAAAAAGTAGAAGATGCTACATTGCCAGCGTTGAATATGGAGGATGGGGCCACAAGCCAAGAATGCAGGCAGCCTCCGGAATG
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Task1_train_17034
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This alteration in VWF (von Willebrand factor) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; von Willebrand disease type 1
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AAAAAAAAGAAAAAATAAAAACAAGGTGTGAATCTTGATTCTGCCACTTATTGGTAACACTGAGCAAACCACTTACCTTTCTGACACACACACCCACACACACACATACACCCAAATACACACAGGCACATGCATACACTCAAACACACATATACATACATCTATGTACTCATACACACACTCACACACGTGCTCACACATACACAGATGCACACACATACACCCATGTACTCATACACACACACACGCATACACATACATACACACACGTAGCCATACACACACACGCGCTCACGCATACACACACATACACCCATGTACTCATACACAGTCACACACACGCACATGCATACACCCACACACACGCACATGCATACACCCACACAGACATGCTCATGCATACACACATGCACACATACATGCATACATATGTCCATACAACACACACAATCTGACCTCTAAGATTCCATTCAACTTAATGGAATTGTCAGGTTAAATGGCTTTGTGTTAGGTCGATGCATGGCGAAGGTTAAAAGAGGAAACAAGGGTGTAGGTGTTTTATTTGTCCTTATCTTCAGCTGAGATTTCTGAAAGAGGGAGTTAGGTCTTGATGATACTCCCCAAAGGAGGATGGCAGAAAGGGGAGGGGCCCCAGGACAATGCATCAGAAGACAACAGAACCAGCTGTAGGAAAGGAAAACAAGCCACACACAAGGGGCACCGTTTGGAGGGGGAGTCTTTAAAACTGGTCCACTTGGGAAAGCTGGCCTGGGCAGGGAAGGGCTGGGAGCAGCAGATGCTGACCAGCTGTCTGGTCCTTGCTGCACTGAATTAATTTTTTCCTGGATGTTCAGATTTGAAATGGGCTGGGCAGTTGTTCTGCAAAGCTGGTGTCGCCCTCTCTTTTGCTGCTGAGGCTGGGAAACTTCCATATAGAATCTCTGGGAAAGCTCTAAAGGGGCGCATATCCCCCCGGATCATAGGTTCCCTGCCTGGTCTGCATGCCCTGTGTCCCCAGCACACTGCCTGCCTCTCTGGGCCAGCCCGGGTGTGAGGTGGGGACTGAGGAGGCTGCTGTTGGCTCCGCCCCATGCCCAGCATGCTCTACACGAGTGGTCGGTCCACAGTCACCCACGCTGCCTGACTCACCAGCTCCTGCAACTCAGCCTCTGGGGCTGGGGCTCCTATGGGTTTGTGGTCTTCCATTCAGACCACACCAAGCTCCCGCCCCTCCTCCTCCTGGGAATGGAGACAGAGGGACCATATTTGTTCAAAGCTTCACAGAGTACAGTGCCTCAGCTCTGGTGAGAAAAGCACTCATACTTCCTTGCTTACACAGTTGATGTCAACCAGAAAGAGAAACTTACAAGAATCCACGCAGTGGGGAGTGGGAGGCAGAGGGGCTGCTGCCCACACTCACCGTGAGGATTCCTGGATCGCTCTCATCTGCTGGGCAGGATGACTTTCCTGTGTCCCATCCTCCCACTCCTCCCATTCTGAATTGTACCAAGTTAGACATTAAAATGGCGGAGAATTCCACAAAGCCATATCGTGGGAAGCAAACTCCAGGGGTCATTTCAACCATCCCCCTGTCCAGGGCCACTGCACAACACCTGCAGACTGTGCACTGCCCAGGGTGCTGGAAGGGAGGCTGAGCGGGACTGACTTCCCAGCCCAACCCACTCCCTAAGCTATGCACCCTGACTGAGGCTGTGTCTACCAGAAGGAACAGATGACTTTTTCTAATTCCACATCTGTGCTAATGTGGACTAGCAGTAGCCTTTCTCCCACACCAATCCTCAACAACAAACAAGCTTCTGTCTCGTTTTATAAGTCCCCAGGTGAGCAGAGGGAAAATGGACAACCACTTTGAGCTTCAAATCCCCTACCGCTTCAGGCACTTCTGTGAAGGACTGGGAAGTACTCCAGTAGAAACCAGACCCCAGAGTTGTTTCTGCAGACAGATCCACAGAACCCAACCTGAGGCCACACCTCCCACCCCTCCTAGAAAGAAACAGCACCCTCTCCCCATCTCCCCACCTCTCACCTGCACCAGAACGTACTGGCACTCCCCGGGGAACAGGTATTTGAGCCCGTCGAAGGTGAGGTAGTGGGCCATGCCGATCGTGGAGCACGTGGCATCACACACATGGTCTGTGCAGTTCCACTTCCGGTCCTGACAGACACTAGGAGCAGTCATGGCAGAGATGACAAGTTGGGCACCTTGGGTTTGAGGGGCCCATCTGGGCCATGGAGGCAATGAAGGAACACAGAATACTCTGGGTGCCTCCCAACCCTCCAGGAAGCCCAAGGAAGTTGAGGACCTGTAGCGTGGAGTGTGGACTTCATAGGCCCAGTATGGTGCCCAGCAGGAGACAGGGAAGCCTAGTGGCTGTCCCTAAAAGGGGGAAACTGAGGCAAAGAAGGGAAGGGGTTGTCCAAAGTGAGCCAGGCAGCCAGGGAGGAGGCCCGGATGCTCTTTAGGCCTCCTGTTATGAATTCGCTCAGCCTCACCCTGAAAGCCACATCTACCTGAGATTGGCCACAGGGTGTCTGTAAAACAGACACACTGATGTTGAAAGCCTGAGGCTAATGGGAAAAACAAGACAGAACAGTGGGAAAGCCCAGAGTATAGAAAAGAGTGATGAAGTACGCACTTCTGCCAGGAGCAGTCCTGTGTGCATAGCTACACGTTAAGATGTATGTAGCTACATGTTAAAATCTATAGTGATCTGCCCACTGCCACGTGTCCCTCCCTGCCACCACCCGTAACCAGAGCTGACATCAAGAAGCCCACTTGTGCGTCAGAGGTGGTAAGCTCAGACCTCAAGCCCAAGAGACAGCCCTCTCTACCTCTGTCCAGTAGGCCTCTTTCCAAGGCTGTGCACAGCCACCAAGTCAAAGGCAGGGTGAATGAGCAGGGTGAGGGGTTACGTGCAGGATGGCCAAGGAAAAGGGAGAAGGCAACCAGCCACCCTCACCTCAAACCACGCCACTGCAAGCACACTCACGAAGTGCTCATGGGCAGTGTAAGGCCTGCAACGAAAGGACCCTCCAGACCCCGTGCCCACTGGCAGCTTGGCCCAAATGCAATGACTGGTGGGGCGAGGTCCCTGTCTTCCCTGGGGCCCATCTCCCTGAACAGAAATACAAGCTGAGCATTCCTAATCCAAAACTCTGAAGTCCAAAATGTTCTGAAACCCAAAACTTTGAGCACCAACATGACACCACATGGGTGGCTGAGAGGGTGACACCTTTACTTTCTGATGGTTCAATGTACACAAAACTTTGTTTCATGCACAAACATTAAAAATACTAAATACACATTAAATACATATTTAAAATGTTGTATAAACTTACCCTCAGGCAACGTGTATAAGGTATATATGAACCATAAATAAATGTCATGTTTAGATTTAGGTCCCATCCCTAAGACACCTCATTATGTATATGCAAATATTTCAAAGTCCAAAATAATCCAAAATCCAAAACAGTTGTGGTCCCAAGCATTTCGGATAAGGGCTACTGTACTAACCTGTTGAATAGTGTCTATGCAGGATGGACACAGGTGATGAAAAAGATTCTCCCCATTTTACAGATGGAGAAACACAGGCACGGAGGAAAGGCAGAGAGTAACCAGGTTCCCACAGGGGGCTGGAGGCAAGTGCGGAAGGTCCTGTGGCCGCGTGCACCCTCACTCCACCCGCAGGGCCTGGGTCCCCGGCGCAGCCCCTCACTGAGCCTCACCAAGTGTTGCAGCCAATCTTCACTGTTTCTCCAGGGGCATACTCCTTGCCCTGATGGAAGCAGGGACACCTTTCCAGGGCCACACATCTGTTCTCATGCCGGACCTAAGAGAAAAGAATCCAAAAGTCCTCAGGGCCACAGTGACTGATCTAAAGCCCTCCTCCAGCCCGCTCCAGGAAGTGTTGTCTGAGACTTGAGCCTACGGGTAAGCCCAGCACTGGGACTGGCACCAGGACCAGGGCTGAGCCAGGGGGACAGCTTCCACTGCAGGCCAAGCCAGGACAGGGATCCTATGCCCAGGCCAGGGCTTGGCAAACATGGGTTCCCATCTACATGGCTCCTCCCTGTC
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AAAAAAAAGAAAAAATAAAAACAAGGTGTGAATCTTGATTCTGCCACTTATTGGTAACACTGAGCAAACCACTTACCTTTCTGACACACACACCCACACACACACATACACCCAAATACACACAGGCACATGCATACACTCAAACACACATATACATACATCTATGTACTCATACACACACTCACACACGTGCTCACACATACACAGATGCACACACATACACCCATGTACTCATACACACACACACGCATACACATACATACACACACGTAGCCATACACACACACGCGCTCACGCATACACACACATACACCCATGTACTCATACACAGTCACACACACGCACATGCATACACCCACACACACGCACATGCATACACCCACACAGACATGCTCATGCATACACACATGCACACATACATGCATACATATGTCCATACAACACACACAATCTGACCTCTAAGATTCCATTCAACTTAATGGAATTGTCAGGTTAAATGGCTTTGTGTTAGGTCGATGCATGGCGAAGGTTAAAAGAGGAAACAAGGGTGTAGGTGTTTTATTTGTCCTTATCTTCAGCTGAGATTTCTGAAAGAGGGAGTTAGGTCTTGATGATACTCCCCAAAGGAGGATGGCAGAAAGGGGAGGGGCCCCAGGACAATGCATCAGAAGACAACAGAACCAGCTGTAGGAAAGGAAAACAAGCCACACACAAGGGGCACCGTTTGGAGGGGGAGTCTTTAAAACTGGTCCACTTGGGAAAGCTGGCCTGGGCAGGGAAGGGCTGGGAGCAGCAGATGCTGACCAGCTGTCTGGTCCTTGCTGCACTGAATTAATTTTTTCCTGGATGTTCAGATTTGAAATGGGCTGGGCAGTTGTTCTGCAAAGCTGGTGTCGCCCTCTCTTTTGCTGCTGAGGCTGGGAAACTTCCATATAGAATCTCTGGGAAAGCTCTAAAGGGGCGCATATCCCCCCGGATCATAGGTTCCCTGCCTGGTCTGCATGCCCTGTGTCCCCAGCACACTGCCTGCCTCTCTGGGCCAGCCCGGGTGTGAGGTGGGGACTGAGGAGGCTGCTGTTGGCTCCGCCCCATGCCCAGCATGCTCTACACGAGTGGTCGGTCCACAGTCACCCACGCTGCCTGACTCACCAGCTCCTGCAACTCAGCCTCTGGGGCTGGGGCTCCTATGGGTTTGTGGTCTTCCATTCAGACCACACCAAGCTCCCGCCCCTCCTCCTCCTGGGAATGGAGACAGAGGGACCATATTTGTTCAAAGCTTCACAGAGTACAGTGCCTCAGCTCTGGTGAGAAAAGCACTCATACTTCCTTGCTTACACAGTTGATGTCAACCAGAAAGAGAAACTTACAAGAATCCACGCAGTGGGGAGTGGGAGGCAGAGGGGCTGCTGCCCACACTCACCGTGAGGATTCCTGGATCGCTCTCATCTGCTGGGCAGGATGACTTTCCTGTGTCCCATCCTCCCACTCCTCCCATTCTGAATTGTACCAAGTTAGACATTAAAATGGCGGAGAATTCCACAAAGCCATATCGTGGGAAGCAAACTCCAGGGGTCATTTCAACCATCCCCCTGTCCAGGGCCACTGCACAACACCTGCAGACTGTGCACTGCCCAGGGTGCTGGAAGGGAGGCTGAGCGGGACTGACTTCCCAGCCCAACCCACTCCCTAAGCTATGCACCCTGACTGAGGCTGTGTCTACCAGAAGGAACAGATGACTTTTTCTAATTCCACATCTGTGCTAATGTGGACTAGCAGTAGCCTTTCTCCCACACCAATCCTCAACAACAAACAAGCTTCTGTCTCGTTTTATAAGTCCCCAGGTGAGCAGAGGGAAAATGGACAACCACTTTGAGCTTCAAATCCCCTACCGCTTCAGGCACTTCTGTGAAGGACTGGGAAGTACTCCAGTAGAAACCAGACCCCAGAGTTGTTTCTGCAGACAGATCCACAGAACCCAACCTGAGGCCACACCTCCCACCCCTCCTAGAAAGAAACAGCACCCTCTCCCCATCTCCCCACCTCTCACCCGCACCAGAACGTACTGGCACTCCCCGGGGAACAGGTATTTGAGCCCGTCGAAGGTGAGGTAGTGGGCCATGCCGATCGTGGAGCACGTGGCATCACACACATGGTCTGTGCAGTTCCACTTCCGGTCCTGACAGACACTAGGAGCAGTCATGGCAGAGATGACAAGTTGGGCACCTTGGGTTTGAGGGGCCCATCTGGGCCATGGAGGCAATGAAGGAACACAGAATACTCTGGGTGCCTCCCAACCCTCCAGGAAGCCCAAGGAAGTTGAGGACCTGTAGCGTGGAGTGTGGACTTCATAGGCCCAGTATGGTGCCCAGCAGGAGACAGGGAAGCCTAGTGGCTGTCCCTAAAAGGGGGAAACTGAGGCAAAGAAGGGAAGGGGTTGTCCAAAGTGAGCCAGGCAGCCAGGGAGGAGGCCCGGATGCTCTTTAGGCCTCCTGTTATGAATTCGCTCAGCCTCACCCTGAAAGCCACATCTACCTGAGATTGGCCACAGGGTGTCTGTAAAACAGACACACTGATGTTGAAAGCCTGAGGCTAATGGGAAAAACAAGACAGAACAGTGGGAAAGCCCAGAGTATAGAAAAGAGTGATGAAGTACGCACTTCTGCCAGGAGCAGTCCTGTGTGCATAGCTACACGTTAAGATGTATGTAGCTACATGTTAAAATCTATAGTGATCTGCCCACTGCCACGTGTCCCTCCCTGCCACCACCCGTAACCAGAGCTGACATCAAGAAGCCCACTTGTGCGTCAGAGGTGGTAAGCTCAGACCTCAAGCCCAAGAGACAGCCCTCTCTACCTCTGTCCAGTAGGCCTCTTTCCAAGGCTGTGCACAGCCACCAAGTCAAAGGCAGGGTGAATGAGCAGGGTGAGGGGTTACGTGCAGGATGGCCAAGGAAAAGGGAGAAGGCAACCAGCCACCCTCACCTCAAACCACGCCACTGCAAGCACACTCACGAAGTGCTCATGGGCAGTGTAAGGCCTGCAACGAAAGGACCCTCCAGACCCCGTGCCCACTGGCAGCTTGGCCCAAATGCAATGACTGGTGGGGCGAGGTCCCTGTCTTCCCTGGGGCCCATCTCCCTGAACAGAAATACAAGCTGAGCATTCCTAATCCAAAACTCTGAAGTCCAAAATGTTCTGAAACCCAAAACTTTGAGCACCAACATGACACCACATGGGTGGCTGAGAGGGTGACACCTTTACTTTCTGATGGTTCAATGTACACAAAACTTTGTTTCATGCACAAACATTAAAAATACTAAATACACATTAAATACATATTTAAAATGTTGTATAAACTTACCCTCAGGCAACGTGTATAAGGTATATATGAACCATAAATAAATGTCATGTTTAGATTTAGGTCCCATCCCTAAGACACCTCATTATGTATATGCAAATATTTCAAAGTCCAAAATAATCCAAAATCCAAAACAGTTGTGGTCCCAAGCATTTCGGATAAGGGCTACTGTACTAACCTGTTGAATAGTGTCTATGCAGGATGGACACAGGTGATGAAAAAGATTCTCCCCATTTTACAGATGGAGAAACACAGGCACGGAGGAAAGGCAGAGAGTAACCAGGTTCCCACAGGGGGCTGGAGGCAAGTGCGGAAGGTCCTGTGGCCGCGTGCACCCTCACTCCACCCGCAGGGCCTGGGTCCCCGGCGCAGCCCCTCACTGAGCCTCACCAAGTGTTGCAGCCAATCTTCACTGTTTCTCCAGGGGCATACTCCTTGCCCTGATGGAAGCAGGGACACCTTTCCAGGGCCACACATCTGTTCTCATGCCGGACCTAAGAGAAAAGAATCCAAAAGTCCTCAGGGCCACAGTGACTGATCTAAAGCCCTCCTCCAGCCCGCTCCAGGAAGTGTTGTCTGAGACTTGAGCCTACGGGTAAGCCCAGCACTGGGACTGGCACCAGGACCAGGGCTGAGCCAGGGGGACAGCTTCCACTGCAGGCCAAGCCAGGACAGGGATCCTATGCCCAGGCCAGGGCTTGGCAAACATGGGTTCCCATCTACATGGCTCCTCCCTGTC
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Task1_train_17035
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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 2N
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CCGTGACCCCTTCCCCAAGCCCTTAGTGACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATAACCGAATCTCTTACAATATGAACCTGCAAGTTAGAATCCCCTGTGGCTGAAGTGCGAGTCACCTCGTCACGTGACAGGTATCCAAGTGCTGTCCTCAGAATGCATGCCCAGTGCTTCAGGAATGAAATGAGCGCCTAACAGGATAGCCACAGCCTGTATTTGAGGTCCCGCTGTCCTCTTTTTTGGATTTGGGGTCATAATATAATTATTGTGGTTACTAATATTTAAGGCTATCTGTATTTTTTCCTTCATGACAAAAAAGTTTGTTTCAAAGCATATCCGATGCTGACATAGTCCTCTGAGTGATGTTCCTTTTCCTGCTGAGTATGATGAAGAGACAATGATCTATGCTTTCCCCACACCAAAGCTCTGAGACACTCTACCTAAGAGGCCCCAGGGATAAAGAAGAGCAATAAGGAAGATTCCCCTGCCCTCTCCTATTTTTTGTTCCTACCCAGGTCTGAGATTCCCCACCTTAGAGACCCTTCGTGATATCCACCTTCTGCTAAGGCACCAAACAACCCTTCCAGTTCAAAGGTGCTCATTGGCCAATCGCTAGCTCTCCTCATCAGAAAAGACAGTTCCAAAACCCTCAGAGGCTAAGACAGAGGAGGAGAGAATTAACAAGAGTTGGTCTCTCTGTTTGGGAGAAGAAAGAGTTGAAGGGGAAGTAGAAAAGTAAGCATCTGTCCTTCACACACTGCAATCCCAGCCTTCCTGAGAGACACTGGTAATTGAGTCCACATTCCCTCTACAGAATATTGACAGGTCCCACAGTCCAGGACACTTCCCCTCAAGCAGAGTCCTGGGCAACACTAAGTCCCCTCCAAAGCCATCTGAGAGCCACCCTCTCCCATTCTGGCCTCCACAGCCTCTGCCCCAACTCCTCACCATTCACTTTGGGTATAAGGAATTGGAGTTGGGGAAAACAAGAAGACAGGATGCATTTTGAAAGAGAAACATCTGGAAGTTGCATCCTTCAGGATGTATGCGTAATCTATTTAATACAACGCTGGCTAAGATTAGACTTGGGAGGGAGATAAGGAGGAGTAGGCATGCTCAGATCATTGCCACCAGCAGCAGAACATCCACATAGGAGCCAGGAGTCGCAAACCAGCACGGCCTTGGATGCACGGCCTCCATGCCTGTTTCAGGCACAGCACCGGAGTCATGGAATGTTAAGGGCTGGCCAAGACCTCACGACTCACATTACAGATGAGGAAAACAAGTTTCATTGTGGGGAAGAGACTTGTTGGGCCCATGGCTTGCTAGTGACACGGCAGGGCCATCAATGTCTTTTTTTGAAATAGAAAATTATATGCATATACGTCAATCATATGCAAATATATATGTGTCCCTCCATTTTCATAGCATGGAAGGCGGCCCCTGGGAAAATTCTAGTGGGAATGCTTGTTTTTACTAGTACGTATTTTCTGGAAATTCTTTGCTTCCTATGGCACTCCTGTAAGCTAAGTTCTTATATTTTTGTCAGATCCTGTGAGGATCAACCCCAGGCATTTTCCTAACAACTCCCTCCCTGACTTTGGCAGGGAGGAGACAGAAGAGCCTCCCCTCCTCCATGCCCCCATTACCAGCACCACCTCCATTGCTATCCGTGTTTAGCCCTTGTTTCTTCCTCTCTCTGGCTGCACAGCCCCCTCACTCATCCCTGCCTACAAGAAAACTGAAGGGCAGGCACCAGCTCTGTGCCTGGTGACTCACCATGCCCGGGGGGCAGAGGCAGCCAGAGACACAGCCCATGCTCATGCACTCCAGGTCATAGTTCTGGCACGTTTTGGTACACTCGAGCCCTTCAGCCCGCAGGTTGTCAGCGGGACACACCAGCTTGACCATGGGGGGCCGACAGGATAGGCTCCTTTTGCCTCGAAGGTAGGAAAAGCAAAGAGATGATTAGTGAAGGAGAGAATGGACCTACCTTCCACACTGTCCTTTGGTCCCCTAGAGTCTGTGACTAAATTCAAGAGACTCAGAGTTGCCCACTCACGGGGACCAGCAGCTGCCTGAGCCAGGGTCCCTGTGTGGGACTGGGAGGGCATCTTCTCACCTGGGCTTCTGACCTCTGGCTTACATTGGTGGCAGCTCTTCTGACCCCAGCTCTCATCTAATGTCCCATACTTGTCATCACCCTTAACCTTGCTATAGCAGGTTACATTGAATCAGGATGCATTGCAGAAATTTCCAGACCCAGGCTTGAAAAGACCTGAGTTTGGGTGCTAAAAAGGAGTTTTAATGGACCCAACAGAATCATTCCTAAATGGTTACAACTAATGTGGGGAGAGAAGGCCATCTGACCACAATGGCTTTAAAAGAGATCTCTGCTCGCGTCAGCCCCTGCCCAGCCACTCCATGCGAATTTGCAACACCCGCAACACTCCATCCCTGGACACTCCAATCTCCCCTCCCTGCTGCTTCCCCTCTGATATCCTATATATGTTCTTCTCACCATCTGATATACTACACATCTCACTTACTTGTTTACTGTCCTCCCCAAGCCACTGGGCCCACTAGAACGCATGTTCCATGAAGCCAGGGATTTCTATCTACTTTGCGCATTGACATATCCTACTTCGTGGCAATTAGTAGGTATCAATGGCTAATTGGGTAATACTGACAGCAGATGACTGATACAGCACCTTTCTTTCCAAAGCCCAGGTGCACTTAATAGCATTTGTATCACATACTCGCTCCTCTGGGCAAAACAGTCAAAATTTCTAGCCTTATTTTTATATGGAAACTCTTGTTAGAAAACTGAAACTCCAAAAGGCTAAACGGCTTTTCCCAATCTGCACAGAATCCCAGGAGTTTCCTGACTTTGAAAAATATTACATTTTCCAGTGACCAGACTAGAAGATTCTGAGCAGAAGCACGGAAGGTAGGTCTGAGAGGCAGAATGCAACAGAGAGTGGGTGTGGGGAAAACTCTCTGAGAGGGACAGAAGAAGACACAGAAGGATGGAGTGATCTTGAGGTCACAAGTTCTGGTCTCAACCTTTGAGCCACCCATGCCCTCGGGATCTTGCCCCAGCTCTAGGCTGAGAGACGCTCTCCAGTCGGTCACGCCAGGAGCCAGACCTGTCACGCAGGGCAAGCCAGGAAGCAAACACCATGGCACAGAACTGGGTCCCTTGGACAGAAGGAGCCTTGTGGAAAGTGAGAGGCAGAGAGGGAAGCAGTCAAGCTGGAGATTGAAGATAGCCATTTATCTCTCTCCCACTGGAAGAGTCCTTTCTAAGCAAGGATAAGCCTTCTGGAAGCAAATAAGGGTGCTGCAATCCATAAATGTAAATGTGAAACCCCCAGTACCAGGTCAGCCCCTTCTCCCTTCCATGCCTGGTCCTTAAACAGTACAACAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCTCAAAAAAAAAAGACAGTGCAGCCACCGTTAGGACCTTCGAATGGAGAGCAACGGACCCAACCCTTCTCTTTCTCTCTTTCAAACCCATCCAAGAAGCTTTCTCAAGGAAGAGCTGTCTTCATCAGCATGTCCATAGGAAACAAGAGGCCAT
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CCGTGACCCCTTCCCCAAGCCCTTAGTGACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATAACCGAATCTCTTACAATATGAACCTGCAAGTTAGAATCCCCTGTGGCTGAAGTGCGAGTCACCTCGTCACGTGACAGGTATCCAAGTGCTGTCCTCAGAATGCATGCCCAGTGCTTCAGGAATGAAATGAGCGCCTAACAGGATAGCCACAGCCTGTATTTGAGGTCCCGCTGTCCTCTTTTTTGGATTTGGGGTCATAATATAATTATTGTGGTTACTAATATTTAAGGCTATCTGTATTTTTTCCTTCATGACAAAAAAGTTTGTTTCAAAGCATATCCGATGCTGACATAGTCCTCTGAGTGATGTTCCTTTTCCTGCTGAGTATGATGAAGAGACAATGATCTATGCTTTCCCCACACCAAAGCTCTGAGACACTCTACCTAAGAGGCCCCAGGGATAAAGAAGAGCAATAAGGAAGATTCCCCTGCCCTCTCCTATTTTTTGTTCCTACCCAGGTCTGAGATTCCCCACCTTAGAGACCCTTCGTGATATCCACCTTCTGCTAAGGCACCAAACAACCCTTCCAGTTCAAAGGTGCTCATTGGCCAATCGCTAGCTCTCCTCATCAGAAAAGACAGTTCCAAAACCCTCAGAGGCTAAGACAGAGGAGGAGAGAATTAACAAGAGTTGGTCTCTCTGTTTGGGAGAAGAAAGAGTTGAAGGGGAAGTAGAAAAGTAAGCATCTGTCCTTCACACACTGCAATCCCAGCCTTCCTGAGAGACACTGGTAATTGAGTCCACATTCCCTCTACAGAATATTGACAGGTCCCACAGTCCAGGACACTTCCCCTCAAGCAGAGTCCTGGGCAACACTAAGTCCCCTCCAAAGCCATCTGAGAGCCACCCTCTCCCATTCTGGCCTCCACAGCCTCTGCCCCAACTCCTCACCATTCACTTTGGGTATAAGGAATTGGAGTTGGGGAAAACAAGAAGACAGGATGCATTTTGAAAGAGAAACATCTGGAAGTTGCATCCTTCAGGATGTATGCGTAATCTATTTAATACAACGCTGGCTAAGATTAGACTTGGGAGGGAGATAAGGAGGAGTAGGCATGCTCAGATCATTGCCACCAGCAGCAGAACATCCACATAGGAGCCAGGAGTCGCAAACCAGCACGGCCTTGGATGCACGGCCTCCATGCCTGTTTCAGGCACAGCACCGGAGTCATGGAATGTTAAGGGCTGGCCAAGACCTCACGACTCACATTACAGATGAGGAAAACAAGTTTCATTGTGGGGAAGAGACTTGTTGGGCCCATGGCTTGCTAGTGACACGGCAGGGCCATCAATGTCTTTTTTTGAAATAGAAAATTATATGCATATACGTCAATCATATGCAAATATATATGTGTCCCTCCATTTTCATAGCATGGAAGGCGGCCCCTGGGAAAATTCTAGTGGGAATGCTTGTTTTTACTAGTACGTATTTTCTGGAAATTCTTTGCTTCCTATGGCACTCCTGTAAGCTAAGTTCTTATATTTTTGTCAGATCCTGTGAGGATCAACCCCAGGCATTTTCCTAACAACTCCCTCCCTGACTTTGGCAGGGAGGAGACAGAAGAGCCTCCCCTCCTCCATGCCCCCATTACCAGCACCACCTCCATTGCTATCCGTGTTTAGCCCTTGTTTCTTCCTCTCTCTGGCTGCACAGCCCCCTCACTCATCCCTGCCTACAAGAAAACTGAAGGGCAGGCACCAGCTCTGTGCCTGGTGACTCACCATGCCCGGGGGGCAGAGGCAGCCAGAGACAAAGCCCATGCTCATGCACTCCAGGTCATAGTTCTGGCACGTTTTGGTACACTCGAGCCCTTCAGCCCGCAGGTTGTCAGCGGGACACACCAGCTTGACCATGGGGGGCCGACAGGATAGGCTCCTTTTGCCTCGAAGGTAGGAAAAGCAAAGAGATGATTAGTGAAGGAGAGAATGGACCTACCTTCCACACTGTCCTTTGGTCCCCTAGAGTCTGTGACTAAATTCAAGAGACTCAGAGTTGCCCACTCACGGGGACCAGCAGCTGCCTGAGCCAGGGTCCCTGTGTGGGACTGGGAGGGCATCTTCTCACCTGGGCTTCTGACCTCTGGCTTACATTGGTGGCAGCTCTTCTGACCCCAGCTCTCATCTAATGTCCCATACTTGTCATCACCCTTAACCTTGCTATAGCAGGTTACATTGAATCAGGATGCATTGCAGAAATTTCCAGACCCAGGCTTGAAAAGACCTGAGTTTGGGTGCTAAAAAGGAGTTTTAATGGACCCAACAGAATCATTCCTAAATGGTTACAACTAATGTGGGGAGAGAAGGCCATCTGACCACAATGGCTTTAAAAGAGATCTCTGCTCGCGTCAGCCCCTGCCCAGCCACTCCATGCGAATTTGCAACACCCGCAACACTCCATCCCTGGACACTCCAATCTCCCCTCCCTGCTGCTTCCCCTCTGATATCCTATATATGTTCTTCTCACCATCTGATATACTACACATCTCACTTACTTGTTTACTGTCCTCCCCAAGCCACTGGGCCCACTAGAACGCATGTTCCATGAAGCCAGGGATTTCTATCTACTTTGCGCATTGACATATCCTACTTCGTGGCAATTAGTAGGTATCAATGGCTAATTGGGTAATACTGACAGCAGATGACTGATACAGCACCTTTCTTTCCAAAGCCCAGGTGCACTTAATAGCATTTGTATCACATACTCGCTCCTCTGGGCAAAACAGTCAAAATTTCTAGCCTTATTTTTATATGGAAACTCTTGTTAGAAAACTGAAACTCCAAAAGGCTAAACGGCTTTTCCCAATCTGCACAGAATCCCAGGAGTTTCCTGACTTTGAAAAATATTACATTTTCCAGTGACCAGACTAGAAGATTCTGAGCAGAAGCACGGAAGGTAGGTCTGAGAGGCAGAATGCAACAGAGAGTGGGTGTGGGGAAAACTCTCTGAGAGGGACAGAAGAAGACACAGAAGGATGGAGTGATCTTGAGGTCACAAGTTCTGGTCTCAACCTTTGAGCCACCCATGCCCTCGGGATCTTGCCCCAGCTCTAGGCTGAGAGACGCTCTCCAGTCGGTCACGCCAGGAGCCAGACCTGTCACGCAGGGCAAGCCAGGAAGCAAACACCATGGCACAGAACTGGGTCCCTTGGACAGAAGGAGCCTTGTGGAAAGTGAGAGGCAGAGAGGGAAGCAGTCAAGCTGGAGATTGAAGATAGCCATTTATCTCTCTCCCACTGGAAGAGTCCTTTCTAAGCAAGGATAAGCCTTCTGGAAGCAAATAAGGGTGCTGCAATCCATAAATGTAAATGTGAAACCCCCAGTACCAGGTCAGCCCCTTCTCCCTTCCATGCCTGGTCCTTAAACAGTACAACAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCTCAAAAAAAAAAGACAGTGCAGCCACCGTTAGGACCTTCGAATGGAGAGCAACGGACCCAACCCTTCTCTTTCTCTCTTTCAAACCCATCCAAGAAGCTTTCTCAAGGAAGAGCTGTCTTCATCAGCATGTCCATAGGAAACAAGAGGCCAT
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Task1_train_17036
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The gene VWF (von Willebrand factor), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; von Willebrand disease type 2N
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GACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATAACCGAATCTCTTACAATATGAACCTGCAAGTTAGAATCCCCTGTGGCTGAAGTGCGAGTCACCTCGTCACGTGACAGGTATCCAAGTGCTGTCCTCAGAATGCATGCCCAGTGCTTCAGGAATGAAATGAGCGCCTAACAGGATAGCCACAGCCTGTATTTGAGGTCCCGCTGTCCTCTTTTTTGGATTTGGGGTCATAATATAATTATTGTGGTTACTAATATTTAAGGCTATCTGTATTTTTTCCTTCATGACAAAAAAGTTTGTTTCAAAGCATATCCGATGCTGACATAGTCCTCTGAGTGATGTTCCTTTTCCTGCTGAGTATGATGAAGAGACAATGATCTATGCTTTCCCCACACCAAAGCTCTGAGACACTCTACCTAAGAGGCCCCAGGGATAAAGAAGAGCAATAAGGAAGATTCCCCTGCCCTCTCCTATTTTTTGTTCCTACCCAGGTCTGAGATTCCCCACCTTAGAGACCCTTCGTGATATCCACCTTCTGCTAAGGCACCAAACAACCCTTCCAGTTCAAAGGTGCTCATTGGCCAATCGCTAGCTCTCCTCATCAGAAAAGACAGTTCCAAAACCCTCAGAGGCTAAGACAGAGGAGGAGAGAATTAACAAGAGTTGGTCTCTCTGTTTGGGAGAAGAAAGAGTTGAAGGGGAAGTAGAAAAGTAAGCATCTGTCCTTCACACACTGCAATCCCAGCCTTCCTGAGAGACACTGGTAATTGAGTCCACATTCCCTCTACAGAATATTGACAGGTCCCACAGTCCAGGACACTTCCCCTCAAGCAGAGTCCTGGGCAACACTAAGTCCCCTCCAAAGCCATCTGAGAGCCACCCTCTCCCATTCTGGCCTCCACAGCCTCTGCCCCAACTCCTCACCATTCACTTTGGGTATAAGGAATTGGAGTTGGGGAAAACAAGAAGACAGGATGCATTTTGAAAGAGAAACATCTGGAAGTTGCATCCTTCAGGATGTATGCGTAATCTATTTAATACAACGCTGGCTAAGATTAGACTTGGGAGGGAGATAAGGAGGAGTAGGCATGCTCAGATCATTGCCACCAGCAGCAGAACATCCACATAGGAGCCAGGAGTCGCAAACCAGCACGGCCTTGGATGCACGGCCTCCATGCCTGTTTCAGGCACAGCACCGGAGTCATGGAATGTTAAGGGCTGGCCAAGACCTCACGACTCACATTACAGATGAGGAAAACAAGTTTCATTGTGGGGAAGAGACTTGTTGGGCCCATGGCTTGCTAGTGACACGGCAGGGCCATCAATGTCTTTTTTTGAAATAGAAAATTATATGCATATACGTCAATCATATGCAAATATATATGTGTCCCTCCATTTTCATAGCATGGAAGGCGGCCCCTGGGAAAATTCTAGTGGGAATGCTTGTTTTTACTAGTACGTATTTTCTGGAAATTCTTTGCTTCCTATGGCACTCCTGTAAGCTAAGTTCTTATATTTTTGTCAGATCCTGTGAGGATCAACCCCAGGCATTTTCCTAACAACTCCCTCCCTGACTTTGGCAGGGAGGAGACAGAAGAGCCTCCCCTCCTCCATGCCCCCATTACCAGCACCACCTCCATTGCTATCCGTGTTTAGCCCTTGTTTCTTCCTCTCTCTGGCTGCACAGCCCCCTCACTCATCCCTGCCTACAAGAAAACTGAAGGGCAGGCACCAGCTCTGTGCCTGGTGACTCACCATGCCCGGGGGGCAGAGGCAGCCAGAGACACAGCCCATGCTCATGCACTCCAGGTCATAGTTCTGGCACGTTTTGGTACACTCGAGCCCTTCAGCCCGCAGGTTGTCAGCGGGACACACCAGCTTGACCATGGGGGGCCGACAGGATAGGCTCCTTTTGCCTCGAAGGTAGGAAAAGCAAAGAGATGATTAGTGAAGGAGAGAATGGACCTACCTTCCACACTGTCCTTTGGTCCCCTAGAGTCTGTGACTAAATTCAAGAGACTCAGAGTTGCCCACTCACGGGGACCAGCAGCTGCCTGAGCCAGGGTCCCTGTGTGGGACTGGGAGGGCATCTTCTCACCTGGGCTTCTGACCTCTGGCTTACATTGGTGGCAGCTCTTCTGACCCCAGCTCTCATCTAATGTCCCATACTTGTCATCACCCTTAACCTTGCTATAGCAGGTTACATTGAATCAGGATGCATTGCAGAAATTTCCAGACCCAGGCTTGAAAAGACCTGAGTTTGGGTGCTAAAAAGGAGTTTTAATGGACCCAACAGAATCATTCCTAAATGGTTACAACTAATGTGGGGAGAGAAGGCCATCTGACCACAATGGCTTTAAAAGAGATCTCTGCTCGCGTCAGCCCCTGCCCAGCCACTCCATGCGAATTTGCAACACCCGCAACACTCCATCCCTGGACACTCCAATCTCCCCTCCCTGCTGCTTCCCCTCTGATATCCTATATATGTTCTTCTCACCATCTGATATACTACACATCTCACTTACTTGTTTACTGTCCTCCCCAAGCCACTGGGCCCACTAGAACGCATGTTCCATGAAGCCAGGGATTTCTATCTACTTTGCGCATTGACATATCCTACTTCGTGGCAATTAGTAGGTATCAATGGCTAATTGGGTAATACTGACAGCAGATGACTGATACAGCACCTTTCTTTCCAAAGCCCAGGTGCACTTAATAGCATTTGTATCACATACTCGCTCCTCTGGGCAAAACAGTCAAAATTTCTAGCCTTATTTTTATATGGAAACTCTTGTTAGAAAACTGAAACTCCAAAAGGCTAAACGGCTTTTCCCAATCTGCACAGAATCCCAGGAGTTTCCTGACTTTGAAAAATATTACATTTTCCAGTGACCAGACTAGAAGATTCTGAGCAGAAGCACGGAAGGTAGGTCTGAGAGGCAGAATGCAACAGAGAGTGGGTGTGGGGAAAACTCTCTGAGAGGGACAGAAGAAGACACAGAAGGATGGAGTGATCTTGAGGTCACAAGTTCTGGTCTCAACCTTTGAGCCACCCATGCCCTCGGGATCTTGCCCCAGCTCTAGGCTGAGAGACGCTCTCCAGTCGGTCACGCCAGGAGCCAGACCTGTCACGCAGGGCAAGCCAGGAAGCAAACACCATGGCACAGAACTGGGTCCCTTGGACAGAAGGAGCCTTGTGGAAAGTGAGAGGCAGAGAGGGAAGCAGTCAAGCTGGAGATTGAAGATAGCCATTTATCTCTCTCCCACTGGAAGAGTCCTTTCTAAGCAAGGATAAGCCTTCTGGAAGCAAATAAGGGTGCTGCAATCCATAAATGTAAATGTGAAACCCCCAGTACCAGGTCAGCCCCTTCTCCCTTCCATGCCTGGTCCTTAAACAGTACAACAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCTCAAAAAAAAAAGACAGTGCAGCCACCGTTAGGACCTTCGAATGGAGAGCAACGGACCCAACCCTTCTCTTTCTCTCTTTCAAACCCATCCAAGAAGCTTTCTCAAGGAAGAGCTGTCTTCATCAGCATGTCCATAGGAAACAAGAGGCCATCAAAGAAGGGTGACTGTCATCACAATC
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GACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATAACCGAATCTCTTACAATATGAACCTGCAAGTTAGAATCCCCTGTGGCTGAAGTGCGAGTCACCTCGTCACGTGACAGGTATCCAAGTGCTGTCCTCAGAATGCATGCCCAGTGCTTCAGGAATGAAATGAGCGCCTAACAGGATAGCCACAGCCTGTATTTGAGGTCCCGCTGTCCTCTTTTTTGGATTTGGGGTCATAATATAATTATTGTGGTTACTAATATTTAAGGCTATCTGTATTTTTTCCTTCATGACAAAAAAGTTTGTTTCAAAGCATATCCGATGCTGACATAGTCCTCTGAGTGATGTTCCTTTTCCTGCTGAGTATGATGAAGAGACAATGATCTATGCTTTCCCCACACCAAAGCTCTGAGACACTCTACCTAAGAGGCCCCAGGGATAAAGAAGAGCAATAAGGAAGATTCCCCTGCCCTCTCCTATTTTTTGTTCCTACCCAGGTCTGAGATTCCCCACCTTAGAGACCCTTCGTGATATCCACCTTCTGCTAAGGCACCAAACAACCCTTCCAGTTCAAAGGTGCTCATTGGCCAATCGCTAGCTCTCCTCATCAGAAAAGACAGTTCCAAAACCCTCAGAGGCTAAGACAGAGGAGGAGAGAATTAACAAGAGTTGGTCTCTCTGTTTGGGAGAAGAAAGAGTTGAAGGGGAAGTAGAAAAGTAAGCATCTGTCCTTCACACACTGCAATCCCAGCCTTCCTGAGAGACACTGGTAATTGAGTCCACATTCCCTCTACAGAATATTGACAGGTCCCACAGTCCAGGACACTTCCCCTCAAGCAGAGTCCTGGGCAACACTAAGTCCCCTCCAAAGCCATCTGAGAGCCACCCTCTCCCATTCTGGCCTCCACAGCCTCTGCCCCAACTCCTCACCATTCACTTTGGGTATAAGGAATTGGAGTTGGGGAAAACAAGAAGACAGGATGCATTTTGAAAGAGAAACATCTGGAAGTTGCATCCTTCAGGATGTATGCGTAATCTATTTAATACAACGCTGGCTAAGATTAGACTTGGGAGGGAGATAAGGAGGAGTAGGCATGCTCAGATCATTGCCACCAGCAGCAGAACATCCACATAGGAGCCAGGAGTCGCAAACCAGCACGGCCTTGGATGCACGGCCTCCATGCCTGTTTCAGGCACAGCACCGGAGTCATGGAATGTTAAGGGCTGGCCAAGACCTCACGACTCACATTACAGATGAGGAAAACAAGTTTCATTGTGGGGAAGAGACTTGTTGGGCCCATGGCTTGCTAGTGACACGGCAGGGCCATCAATGTCTTTTTTTGAAATAGAAAATTATATGCATATACGTCAATCATATGCAAATATATATGTGTCCCTCCATTTTCATAGCATGGAAGGCGGCCCCTGGGAAAATTCTAGTGGGAATGCTTGTTTTTACTAGTACGTATTTTCTGGAAATTCTTTGCTTCCTATGGCACTCCTGTAAGCTAAGTTCTTATATTTTTGTCAGATCCTGTGAGGATCAACCCCAGGCATTTTCCTAACAACTCCCTCCCTGACTTTGGCAGGGAGGAGACAGAAGAGCCTCCCCTCCTCCATGCCCCCATTACCAGCACCACCTCCATTGCTATCCGTGTTTAGCCCTTGTTTCTTCCTCTCTCTGGCTGCACAGCCCCCTCACTCATCCCTGCCTACAAGAAAACTGAAGGGCAGGCACCAGCTCTGTGCCTGGTGACTCACCATGCCCGGGGGGCAGAGGCAGCCAGAGACACAGCCCATGCTCATGCACTCCAGGTCACAGTTCTGGCACGTTTTGGTACACTCGAGCCCTTCAGCCCGCAGGTTGTCAGCGGGACACACCAGCTTGACCATGGGGGGCCGACAGGATAGGCTCCTTTTGCCTCGAAGGTAGGAAAAGCAAAGAGATGATTAGTGAAGGAGAGAATGGACCTACCTTCCACACTGTCCTTTGGTCCCCTAGAGTCTGTGACTAAATTCAAGAGACTCAGAGTTGCCCACTCACGGGGACCAGCAGCTGCCTGAGCCAGGGTCCCTGTGTGGGACTGGGAGGGCATCTTCTCACCTGGGCTTCTGACCTCTGGCTTACATTGGTGGCAGCTCTTCTGACCCCAGCTCTCATCTAATGTCCCATACTTGTCATCACCCTTAACCTTGCTATAGCAGGTTACATTGAATCAGGATGCATTGCAGAAATTTCCAGACCCAGGCTTGAAAAGACCTGAGTTTGGGTGCTAAAAAGGAGTTTTAATGGACCCAACAGAATCATTCCTAAATGGTTACAACTAATGTGGGGAGAGAAGGCCATCTGACCACAATGGCTTTAAAAGAGATCTCTGCTCGCGTCAGCCCCTGCCCAGCCACTCCATGCGAATTTGCAACACCCGCAACACTCCATCCCTGGACACTCCAATCTCCCCTCCCTGCTGCTTCCCCTCTGATATCCTATATATGTTCTTCTCACCATCTGATATACTACACATCTCACTTACTTGTTTACTGTCCTCCCCAAGCCACTGGGCCCACTAGAACGCATGTTCCATGAAGCCAGGGATTTCTATCTACTTTGCGCATTGACATATCCTACTTCGTGGCAATTAGTAGGTATCAATGGCTAATTGGGTAATACTGACAGCAGATGACTGATACAGCACCTTTCTTTCCAAAGCCCAGGTGCACTTAATAGCATTTGTATCACATACTCGCTCCTCTGGGCAAAACAGTCAAAATTTCTAGCCTTATTTTTATATGGAAACTCTTGTTAGAAAACTGAAACTCCAAAAGGCTAAACGGCTTTTCCCAATCTGCACAGAATCCCAGGAGTTTCCTGACTTTGAAAAATATTACATTTTCCAGTGACCAGACTAGAAGATTCTGAGCAGAAGCACGGAAGGTAGGTCTGAGAGGCAGAATGCAACAGAGAGTGGGTGTGGGGAAAACTCTCTGAGAGGGACAGAAGAAGACACAGAAGGATGGAGTGATCTTGAGGTCACAAGTTCTGGTCTCAACCTTTGAGCCACCCATGCCCTCGGGATCTTGCCCCAGCTCTAGGCTGAGAGACGCTCTCCAGTCGGTCACGCCAGGAGCCAGACCTGTCACGCAGGGCAAGCCAGGAAGCAAACACCATGGCACAGAACTGGGTCCCTTGGACAGAAGGAGCCTTGTGGAAAGTGAGAGGCAGAGAGGGAAGCAGTCAAGCTGGAGATTGAAGATAGCCATTTATCTCTCTCCCACTGGAAGAGTCCTTTCTAAGCAAGGATAAGCCTTCTGGAAGCAAATAAGGGTGCTGCAATCCATAAATGTAAATGTGAAACCCCCAGTACCAGGTCAGCCCCTTCTCCCTTCCATGCCTGGTCCTTAAACAGTACAACAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCTCAAAAAAAAAAGACAGTGCAGCCACCGTTAGGACCTTCGAATGGAGAGCAACGGACCCAACCCTTCTCTTTCTCTCTTTCAAACCCATCCAAGAAGCTTTCTCAAGGAAGAGCTGTCTTCATCAGCATGTCCATAGGAAACAAGAGGCCATCAAAGAAGGGTGACTGTCATCACAATC
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Task1_train_17037
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Consider a variant on Chromosome 12 in gene VWF (von Willebrand factor). Determine its clinical classification and disease relevance.
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Pathogenic; von Willebrand disease type 1
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ACCCCAGCTCTCATCTAATGTCCCATACTTGTCATCACCCTTAACCTTGCTATAGCAGGTTACATTGAATCAGGATGCATTGCAGAAATTTCCAGACCCAGGCTTGAAAAGACCTGAGTTTGGGTGCTAAAAAGGAGTTTTAATGGACCCAACAGAATCATTCCTAAATGGTTACAACTAATGTGGGGAGAGAAGGCCATCTGACCACAATGGCTTTAAAAGAGATCTCTGCTCGCGTCAGCCCCTGCCCAGCCACTCCATGCGAATTTGCAACACCCGCAACACTCCATCCCTGGACACTCCAATCTCCCCTCCCTGCTGCTTCCCCTCTGATATCCTATATATGTTCTTCTCACCATCTGATATACTACACATCTCACTTACTTGTTTACTGTCCTCCCCAAGCCACTGGGCCCACTAGAACGCATGTTCCATGAAGCCAGGGATTTCTATCTACTTTGCGCATTGACATATCCTACTTCGTGGCAATTAGTAGGTATCAATGGCTAATTGGGTAATACTGACAGCAGATGACTGATACAGCACCTTTCTTTCCAAAGCCCAGGTGCACTTAATAGCATTTGTATCACATACTCGCTCCTCTGGGCAAAACAGTCAAAATTTCTAGCCTTATTTTTATATGGAAACTCTTGTTAGAAAACTGAAACTCCAAAAGGCTAAACGGCTTTTCCCAATCTGCACAGAATCCCAGGAGTTTCCTGACTTTGAAAAATATTACATTTTCCAGTGACCAGACTAGAAGATTCTGAGCAGAAGCACGGAAGGTAGGTCTGAGAGGCAGAATGCAACAGAGAGTGGGTGTGGGGAAAACTCTCTGAGAGGGACAGAAGAAGACACAGAAGGATGGAGTGATCTTGAGGTCACAAGTTCTGGTCTCAACCTTTGAGCCACCCATGCCCTCGGGATCTTGCCCCAGCTCTAGGCTGAGAGACGCTCTCCAGTCGGTCACGCCAGGAGCCAGACCTGTCACGCAGGGCAAGCCAGGAAGCAAACACCATGGCACAGAACTGGGTCCCTTGGACAGAAGGAGCCTTGTGGAAAGTGAGAGGCAGAGAGGGAAGCAGTCAAGCTGGAGATTGAAGATAGCCATTTATCTCTCTCCCACTGGAAGAGTCCTTTCTAAGCAAGGATAAGCCTTCTGGAAGCAAATAAGGGTGCTGCAATCCATAAATGTAAATGTGAAACCCCCAGTACCAGGTCAGCCCCTTCTCCCTTCCATGCCTGGTCCTTAAACAGTACAACAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCTCAAAAAAAAAAGACAGTGCAGCCACCGTTAGGACCTTCGAATGGAGAGCAACGGACCCAACCCTTCTCTTTCTCTCTTTCAAACCCATCCAAGAAGCTTTCTCAAGGAAGAGCTGTCTTCATCAGCATGTCCATAGGAAACAAGAGGCCATCAAAGAAGGGTGACTGTCATCACAATCAAGGCCACCAACTCACAGCTATCCACTGGGTTAAGGTCTCCACGGGCAAAATAGGGGTCTCATAGAATTTATCTGCAGGTCTTTCCCCTTACACGAAATCAAATACTCCTTGCCTCAATGGTCGGGATTGACACATGCAAAGACATGCCTTGGCCTGAAAGTCACTCACACAAACCCAGAAATGAAGGCGATCCTGGGCGAAGCCAGACCCATGCCTGGGTGCACACGCACATCTGACGGTGTCACCCAGCTCTCTCCCGCCATTCCACACGTGAGGAATCTGGGCAGGATGGAGTCAATGGGCCTTCCAGGGGGACAGTACTCACTGCGATGAGACAGGGGACTGCTGAGGACAGCGTCAGGCAGCAAGCTTCCGGGGACTCCACTCATGGTACAGTGCATGAAGCCATCCTCACAGTAGCTGCAGAGAAGAAAATCATAGCCGAGCTTCACGAGACTCGTCTATACTCGCTGCCTCCACATCTTCACCTCCCACTCACTCTCTGCCCCTTCCAACCAGGTCCCAGTCCCATAACCCCTCCTGAAGCACAGCTTGCTAACGTTACCAATGGATGATCCCCACGTCACTAAATCCCATGGGACTTTTTTCAGTTATTTGCTTAATTGATCCCATTCAACATTATTCATCACTGTTGAACACTCCACTCTTCTAGAAAAAAAATATTTCTCTCTCCAGGTTTTCCTCCCACTTCCTTGGTTCCTCCTTCTCAGCCTCAGCTTTCATGTGCCCCCACTGCCTGGCCTTTCAATATCGGCCTTCCCCAGGCTCTGTCCTAGGCTCGCTCCTCTTCTCACACTCTGCTGCCATCCCCAGTTCCAATCACAGACATGACTCATAAATCTACATCAGCAGCTCGGACCGCTCCTTTGAACCCCAGACCCATATACTCAAACGCCTACATGGTCTCACTAATGTAGTGAGTCTCAAACACACCTCAAACTCAGTATATTCAAAACTAAACTCATGATCCCCCGACCAAAGCCAATTCTCCTCCAGGGCTGATTCACTGAATGGTGACGCCATCCATCTGGCTTCGCAACCAGAAACCCAAGATCATCCCTGCCACTGTCTTCTCCCTCATCCTCTGTATCTGATTCATCATCAAGCCCTTGGACTTGGCCTCCAACATACCACTGAAATTCATATCCACTTTATCTCCACTGTCATGAGACAAGACACTATGACCTCTTGCCTGGACTATGTAAAAGTCTCCTAACTGACTGCATATTTTTATAAAACGTCTGTGGTTGCTTTGTATGTATGTTTAGTTTGTATAAATGATATCACATAGCATGCTGTGTTTTGCTTTTCCCATCGAGCACCGTGTTTGTAAGATTCATCCCTGTGAAGACACGGACCACTTGTCTGTGACTTCTGTTGCACAATACACCTTTTACCCACTCAGTGTCCCAGTGATTGACATAGGTTGTCACCTGCTCCTTACCACCACAAACAAAGCTGTGCTGAACATCTGCAGACATGTGTCCTAATGAATGTGTATAAGGATTTTAGTCTATCTGCACAGAGGCAGAAGGGCGGGGATAGCAGGTGTGAATACCTGACCTGCACATGATGTGCCAAGTACTCTCCTAGATGACTCAACCAGTCTATGCCTTACAAAAGCAGATGAGGCCCCCATGCCCCTCAGCTCTGCATTATCCAGATGTCTAATTTTTCCAGTCTAGTATGAAGTCATACTCATTGCTTTAATTTGCATTTCTCAGACTGTAATAATTTTATTCAGTTTTGTTTTGCTTTGTTTTGTTTGGAGACCAAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTTCGATCTCGGCTCACTGCAACCTCCTACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCTACCCGCCTCAGCCTCCTACAGTGCTGGGATTACAGGCGTGAGCCAACGTGCCCTGCCTGTTTTTGTTTTTTTGAGACAGAGTCTTACTCTGTCGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCAATTCTCCGGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCACACATCACCATGCCCAGCTAATTTTTGTATGTTTAGTGGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCCAGCTGACTGTAATG
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ACCCCAGCTCTCATCTAATGTCCCATACTTGTCATCACCCTTAACCTTGCTATAGCAGGTTACATTGAATCAGGATGCATTGCAGAAATTTCCAGACCCAGGCTTGAAAAGACCTGAGTTTGGGTGCTAAAAAGGAGTTTTAATGGACCCAACAGAATCATTCCTAAATGGTTACAACTAATGTGGGGAGAGAAGGCCATCTGACCACAATGGCTTTAAAAGAGATCTCTGCTCGCGTCAGCCCCTGCCCAGCCACTCCATGCGAATTTGCAACACCCGCAACACTCCATCCCTGGACACTCCAATCTCCCCTCCCTGCTGCTTCCCCTCTGATATCCTATATATGTTCTTCTCACCATCTGATATACTACACATCTCACTTACTTGTTTACTGTCCTCCCCAAGCCACTGGGCCCACTAGAACGCATGTTCCATGAAGCCAGGGATTTCTATCTACTTTGCGCATTGACATATCCTACTTCGTGGCAATTAGTAGGTATCAATGGCTAATTGGGTAATACTGACAGCAGATGACTGATACAGCACCTTTCTTTCCAAAGCCCAGGTGCACTTAATAGCATTTGTATCACATACTCGCTCCTCTGGGCAAAACAGTCAAAATTTCTAGCCTTATTTTTATATGGAAACTCTTGTTAGAAAACTGAAACTCCAAAAGGCTAAACGGCTTTTCCCAATCTGCACAGAATCCCAGGAGTTTCCTGACTTTGAAAAATATTACATTTTCCAGTGACCAGACTAGAAGATTCTGAGCAGAAGCACGGAAGGTAGGTCTGAGAGGCAGAATGCAACAGAGAGTGGGTGTGGGGAAAACTCTCTGAGAGGGACAGAAGAAGACACAGAAGGATGGAGTGATCTTGAGGTCACAAGTTCTGGTCTCAACCTTTGAGCCACCCATGCCCTCGGGATCTTGCCCCAGCTCTAGGCTGAGAGACGCTCTCCAGTCGGTCACGCCAGGAGCCAGACCTGTCACGCAGGGCAAGCCAGGAAGCAAACACCATGGCACAGAACTGGGTCCCTTGGACAGAAGGAGCCTTGTGGAAAGTGAGAGGCAGAGAGGGAAGCAGTCAAGCTGGAGATTGAAGATAGCCATTTATCTCTCTCCCACTGGAAGAGTCCTTTCTAAGCAAGGATAAGCCTTCTGGAAGCAAATAAGGGTGCTGCAATCCATAAATGTAAATGTGAAACCCCCAGTACCAGGTCAGCCCCTTCTCCCTTCCATGCCTGGTCCTTAAACAGTACAACAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCTCAAAAAAAAAAGACAGTGCAGCCACCGTTAGGACCTTCGAATGGAGAGCAACGGACCCAACCCTTCTCTTTCTCTCTTTCAAACCCATCCAAGAAGCTTTCTCAAGGAAGAGCTGTCTTCATCAGCATGTCCATAGGAAACAAGAGGCCATCAAAGAAGGGTGACTGTCATCACAATCAAGGCCACCAACTCACAGCTATCCACTGGGTTAAGGTCTCCACGGGCAAAATAGGGGTCTCATAGAATTTATCTGCAGGTCTTTCCCCTTACACGAAATCAAATACTCCTTGCCTCAATGGTCGGGATTGACACATGCAAAGACATGCCTTGGCCTGAAAGTCACTCACACAAACCCAGAAATGAAGGCGATCCTGGGCGAAGCCAGACCCATGCCTGGGTGCACACGCACATCTGACGGTGTCACCCAGCTCTCTCCCGCCATTCCACACGTGAGGAATCTGGGCAGGATGGAGTCAATGGGCCTTCCAGGGGGACAGTACTCACTGTGATGAGACAGGGGACTGCTGAGGACAGCGTCAGGCAGCAAGCTTCCGGGGACTCCACTCATGGTACAGTGCATGAAGCCATCCTCACAGTAGCTGCAGAGAAGAAAATCATAGCCGAGCTTCACGAGACTCGTCTATACTCGCTGCCTCCACATCTTCACCTCCCACTCACTCTCTGCCCCTTCCAACCAGGTCCCAGTCCCATAACCCCTCCTGAAGCACAGCTTGCTAACGTTACCAATGGATGATCCCCACGTCACTAAATCCCATGGGACTTTTTTCAGTTATTTGCTTAATTGATCCCATTCAACATTATTCATCACTGTTGAACACTCCACTCTTCTAGAAAAAAAATATTTCTCTCTCCAGGTTTTCCTCCCACTTCCTTGGTTCCTCCTTCTCAGCCTCAGCTTTCATGTGCCCCCACTGCCTGGCCTTTCAATATCGGCCTTCCCCAGGCTCTGTCCTAGGCTCGCTCCTCTTCTCACACTCTGCTGCCATCCCCAGTTCCAATCACAGACATGACTCATAAATCTACATCAGCAGCTCGGACCGCTCCTTTGAACCCCAGACCCATATACTCAAACGCCTACATGGTCTCACTAATGTAGTGAGTCTCAAACACACCTCAAACTCAGTATATTCAAAACTAAACTCATGATCCCCCGACCAAAGCCAATTCTCCTCCAGGGCTGATTCACTGAATGGTGACGCCATCCATCTGGCTTCGCAACCAGAAACCCAAGATCATCCCTGCCACTGTCTTCTCCCTCATCCTCTGTATCTGATTCATCATCAAGCCCTTGGACTTGGCCTCCAACATACCACTGAAATTCATATCCACTTTATCTCCACTGTCATGAGACAAGACACTATGACCTCTTGCCTGGACTATGTAAAAGTCTCCTAACTGACTGCATATTTTTATAAAACGTCTGTGGTTGCTTTGTATGTATGTTTAGTTTGTATAAATGATATCACATAGCATGCTGTGTTTTGCTTTTCCCATCGAGCACCGTGTTTGTAAGATTCATCCCTGTGAAGACACGGACCACTTGTCTGTGACTTCTGTTGCACAATACACCTTTTACCCACTCAGTGTCCCAGTGATTGACATAGGTTGTCACCTGCTCCTTACCACCACAAACAAAGCTGTGCTGAACATCTGCAGACATGTGTCCTAATGAATGTGTATAAGGATTTTAGTCTATCTGCACAGAGGCAGAAGGGCGGGGATAGCAGGTGTGAATACCTGACCTGCACATGATGTGCCAAGTACTCTCCTAGATGACTCAACCAGTCTATGCCTTACAAAAGCAGATGAGGCCCCCATGCCCCTCAGCTCTGCATTATCCAGATGTCTAATTTTTCCAGTCTAGTATGAAGTCATACTCATTGCTTTAATTTGCATTTCTCAGACTGTAATAATTTTATTCAGTTTTGTTTTGCTTTGTTTTGTTTGGAGACCAAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGGTTCGATCTCGGCTCACTGCAACCTCCTACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCTACCCGCCTCAGCCTCCTACAGTGCTGGGATTACAGGCGTGAGCCAACGTGCCCTGCCTGTTTTTGTTTTTTTGAGACAGAGTCTTACTCTGTCGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGCAACCTCCACTTCCCGGGTTCAAGCAATTCTCCGGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCACACATCACCATGCCCAGCTAATTTTTGTATGTTTAGTGGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCCAGCTGACTGTAATG
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Task1_train_17038
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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; Von Willebrand disease type 2A
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CTCTTGCCTCAACCTCCCAAGTAGCTGGGACTACACCTACATTTTAATTTCTAAACACATCTACTTTACCCTAAAAAACAGAATATCCACTATGCCTTATTCTTAACAGAATATACTCGTCACTTCTATGCCTACTATGATTCTACCATTGGAAACAAGTCTTCTCTGCCAAGAAAGCAGCTTTTTAAAACCCTAGCCAAGTACACGTCCTCCAGAAAGCCTTCCTTGGTTTTCCCTGCCCTGAATCTACTCATCCTTTCACTTAGTAGGATAGGTATCTAGTAGGGCGGCCATTTCCATCTGTGACTCTAACAGTAAGTTTGGAGTTCCACATCATCACTGTTGCCCGACCACACTGGGCATGCAGCAAATGTCCCCAGAGCAATAACAAAAACAAAAAAGTGAGCACAATAGATACCACCTCTGGTGCCAGGAATCCAACAGTGCAGAGTGAGAATCTAAAGCCAACTGGGGACAGTGATGTAATTCACCTTTAGGTAACTTTATACAACGCCAGAGGTTTTGTCCATCGGTGGTTTGCCTGGAGTTACAAGCAAAGGGTTTGTATGTGAATTTCCCTTGCCTTCATCGGACTCTTAAGGGAGGCGGAGACCCAGTGGGATCTGGGACCCATTCGCTCCACAGCCTGACCTTCTGTGCTGAACGAACACTAGGTGGCAGCGGCCACGGGAAACCCAAGCTTTGCAGGGACCCCCACGTTCTAGGCCTCCAGGTAGGAGGAGCCAACCTGTCTTCCTGGAACAGGCCCGAATCATCAGCCGGTCCCCACCGCCTGTCCTGCTGGGAGGTGGAAGGGAAAAGTGGGTGCAAATGAACCGTCCTCCCCACCCGTGTTTGTCACAATGCCCTACGCCCTCTTTCCACAGGAAACAACGCAGAGAAAGGGCTTCGAAAAGCACACGTGGACGGATTTGGGGGGCGGCCCGGAGGGCTGCGGGCAGGGAGGGCACGCACCACAGCGGCCTGGCTCGCGCCACGCGACGCGCACGCCTCTCCCCGCGCAGGCCGCGGCATAGCTGGCCAGGGCGCCGCACAGGCACTCGCGGCCGTCCGAGCAGGAGCACACGTCGTAGCGGCAGTTCCGCAGGTAGGGCAGCGGGCTGACGGCACGATGGCAGGCCTCGAATGTGGGGGACGTCAGGACCGCGCACGCCTCCTCGGAGAACCTGGCTGTGGGGCGAGAGGAGCGAGCCTGGGATGTGGTGGGGAGGAGTGGGGGCCACGCCCTCCCGGTCAACACTCCCCTGGAAATAGCCCAGTGCTGCTAATAGAGGGCTGCAAGGTCACGCAGAGAAATCTGCAAATGCCACCCCCACCCCCAAGTCCATTTATCTTACAATCATCTAACGCTGAGTTTGTAAGCTGCTGCTGCAGTAGACTGGGAAGGTCGAAGGACGGGGACTATGGAATTTTTTTTTTTTTTTTTTGGAGAGACACGGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGAAATGCGATCTTGGCTCACTGCGGCCTTGCCTTCCTGGGTTCATGCAACCGTCCCACGTAGCTCCCAAGTAGTTGGGATTACAGGCGCGCCCCACCACGCCCGGCAAATTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTAATAGAAATGGGGGCTCCCTACGTTGCCCAGACTGGTCTCGAACTCCTGCCCTCAAGCGATCCTCCCGCCTCGGTAGACTTTTTTTTTTTTTTTCTTTCCCGGGGGTTGGCCTGTGGCGGGCGCCCAATAAAGGGACTTTGAAGAGCAAATGGCCCAGTTCAGATGATCAAGTGCTGACGGTAAAAACAAAGCCCGACCCCTTTCCTCGCTCCCCGCCCCCGCCCTCCGCGGTGGGAGCACTGCCTCCGGAACGCACTGCACTAATGTGGAGACCTCGAGATTCTGCGAGGTCCCTGCCTTGCCCCCGGGTTCACATACTCATGCGCGGGTTGAGGGCGCAGGGATCGCTGTGCTGCTTCTGCAGGTCCTGGCAGTCCCCGTGCAGCTTCCAGGCGTTCCCGAAGTCCTCCACCCGGGGCTCCGCCAGCCCAGAGGGGGTAAGGAAGTCGTCGCCCTGGTTGCCATTGTAATTCCCACACAGGCCGCAGGTCTTCCCGGCATAGACGGGGGACAGCTGCAGGAGAGACCAGGCCACTCTGGAGCCGCTGCCGCGAAAGCAGCGGCATAGTTGTTTAGCTAATGAGATGGTTTTAATAAAAAAAAAAAAGTTCCCCGGGTGAAACATAAATATGAATGTAATAAAAGGCAGCTAAGCCCTAGGCTGCAAAAGGGGGGGCGGGGGAAAGTGAACTGCAGTGTAAATTTACCAGCTCCATCCCTGTTCCCAAATCATCAGAGCCCTGTACTGCCACAAGAGATTTTAGAAATTATCAGATCATCTAAGGATGGAGAAGGGAGGCCCAAAGAGGCAAAGTGACTTGCCTAAGGTCAGGGAGGTAGTGGCGGAGCTAGGGTGAGTAGGCAGGTTGAGCCCAGCCCGAAGCACTCTGCCCTCTGTGCCATCCACACCAGTGGGCCTGACCCCCCCACCCAGAGTTACGTGCAAACTCAAGGCCCCTCTATATAGAAAGACTTCGCGTTGGTCACTCGGTGTGGGCCCAGCAGGCTGCCAGGTGTGGTCCAAGCCCTCCGGGAGCTCACGGTTAATGACAAGAAACACCTCCCCACAACCTGCTGCCTGCCACTCAGGCCCTGGGCATCACTGAAGAGAAAGGGCCACGAGCCACAGAAGACTCTGAGGGTGATGATGGATAGGAGTAGGAGTCTGCAGAGGCTCTGAGGCAGCCTGCCAGGGTGACAGCAGCAAAGCAGCGGCACAGTTCAAACTCCAGGCCATGAGCATGTGGTTTACTGTCCATTCTCAGAACTGAACAAAGTTCTGAGCCCAAAGTGCACATTCGGGAACAACCAGCAGAGTGGAGCCCGCCCTTCCCCCACACAGCTGGGGGCATCTGCTGGTTTCTACGGAGAGGACCCCGATTTGAAGGTGGAGCGGGGGCTGGGACCCAGGAGTCCTGACTCCCTCTCCGCATGTCATTACCAAGGTGGGATGACCTCCCTGCGTTCTGAATCCCTCAGGGGCTAGGGTCAGCTCTTAGAGCCCCTTTTCAGCTTCCAGCTCCAACCTAACAAAATGCAGGGTTAACAATCCAGTAGAAGGTCCCAGGCCCATAGAAATCGAACCCAAGTAAACACTGTTAAGAAAGGGGACAGAGTAATGTTTCCTTGTTTGCTTGACAAATACCAAATGTTGTCACATTAGGCCTTCTCCCACCTCCTTATTTAAAATTTAAATCCCCCCAATCCTGGCACATCCTGCCCCTTTCTCTGCTTTATTTCCCCCAGGATCTATCACTTTCCGATCTATAATATAATTTACTTGTTTGCTTTGTTTATTGTCTGTCTCTCTCCATTAGAACTTAAGCTAAATGAGGCAAGGATTTTTGTCTGTTTTGTCTCACTGCTGTAATCTCAGCATCCAGAATGGTGCCTGTCTTAGCCCTTCCAGGCTGCTATAACAAAATACCACAGACTGCGTGGCTTATAGACAACTGATATTGATTGCCCACAGTTCTGGAATCTGGGAAGTCCAAGATGAAGGCATCAGCAGATTTGGTGTCTGGTGAGGACCCTGCTTTCCGGTTCATAGATGGTGCCTTCTAGCTGTGTCCTCACATGGTGGAAGGGGCTAGCAAGCTCTCTGAGGTCTTTTAAAAGGGCACAAATCTCATTCTTCATCATCTCCCAAAGGCCCCACCTCGTAACACCATCACCTTGGGGGTTAGGATTTCAACATATAAATTTGGGGAGGACACAGACATTCAGTCCACAGCAGTGCCAGCAGACACTCAGTAAGTGTTTGTTGAATGAATGAATCGTTGAACAAATGAATGAATAAGTAAGTGAATGACTAGGTTCTCCTCCTGATGTGCTGGAATGCAATGCCCGCAGTCAGGGCACCCTGGGCAAGGCGGCATAACTGGTGGTGCACCTCCACTCCCTTCCCGCCTCTCAGCATCTTTTCTCTCTCCTTTCTCAGAGTTTGA
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CTCTTGCCTCAACCTCCCAAGTAGCTGGGACTACACCTACATTTTAATTTCTAAACACATCTACTTTACCCTAAAAAACAGAATATCCACTATGCCTTATTCTTAACAGAATATACTCGTCACTTCTATGCCTACTATGATTCTACCATTGGAAACAAGTCTTCTCTGCCAAGAAAGCAGCTTTTTAAAACCCTAGCCAAGTACACGTCCTCCAGAAAGCCTTCCTTGGTTTTCCCTGCCCTGAATCTACTCATCCTTTCACTTAGTAGGATAGGTATCTAGTAGGGCGGCCATTTCCATCTGTGACTCTAACAGTAAGTTTGGAGTTCCACATCATCACTGTTGCCCGACCACACTGGGCATGCAGCAAATGTCCCCAGAGCAATAACAAAAACAAAAAAGTGAGCACAATAGATACCACCTCTGGTGCCAGGAATCCAACAGTGCAGAGTGAGAATCTAAAGCCAACTGGGGACAGTGATGTAATTCACCTTTAGGTAACTTTATACAACGCCAGAGGTTTTGTCCATCGGTGGTTTGCCTGGAGTTACAAGCAAAGGGTTTGTATGTGAATTTCCCTTGCCTTCATCGGACTCTTAAGGGAGGCGGAGACCCAGTGGGATCTGGGACCCATTCGCTCCACAGCCTGACCTTCTGTGCTGAACGAACACTAGGTGGCAGCGGCCACGGGAAACCCAAGCTTTGCAGGGACCCCCACGTTCTAGGCCTCCAGGTAGGAGGAGCCAACCTGTCTTCCTGGAACAGGCCCGAATCATCAGCCGGTCCCCACCGCCTGTCCTGCTGGGAGGTGGAAGGGAAAAGTGGGTGCAAATGAACCGTCCTCCCCACCCGTGTTTGTCACAATGCCCTACGCCCTCTTTCCACAGGAAACAACGCAGAGAAAGGGCTTCGAAAAGCACACGTGGACGGATTTGGGGGGCGGCCCGGAGGGCTGCGGGCAGGGAGGGCACGCACCACAGCGGCCTGGCTCGCGCCACGCGACGCGCACGCCTCTCCCCGCGCAGGCCGCGGCATAGCTGGCCAGGGCGCCGCACAGGCACTCGCGGCCGTCCGAGCAGGAGCACACGTCGTAGCGGCAGTTCCGCAGGTAGGGCAGCGGGCTGACGGCACGATGGCAGGCCTCGAATGTGGGGGACGTCAGGACCGCGCACGCCTCCTCGGAGAACCTGGCTGTGGGGCGAGAGGAGCGAGCCTGGGATGTGGTGGGGAGGAGTGGGGGCCACGCCCTCCCGGTCAACACTCCCCTGGAAATAGCCCAGTGCTGCTAATAGAGGGCTGCAAGGTCACGCAGAGAAATCTGCAAATGCCACCCCCACCCCCAAGTCCATTTATCTTACAATCATCTAACGCTGAGTTTGTAAGCTGCTGCTGCAGTAGACTGGGAAGGTCGAAGGACGGGGACTATGGAATTTTTTTTTTTTTTTTTTGGAGAGACACGGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGAAATGCGATCTTGGCTCACTGCGGCCTTGCCTTCCTGGGTTCATGCAACCGTCCCACGTAGCTCCCAAGTAGTTGGGATTACAGGCGCGCCCCACCACGCCCGGCAAATTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTAATAGAAATGGGGGCTCCCTACGTTGCCCAGACTGGTCTCGAACTCCTGCCCTCAAGCGATCCTCCCGCCTCGGTAGACTTTTTTTTTTTTTTTCTTTCCCGGGGGTTGGCCTGTGGCGGGCGCCCAATAAAGGGACTTTGAAGAGCAAATGGCCCAGTTCAGATGATCAAGTGCTGACGGTAAAAACAAAGCCCGACCCCTTTCCTCGCTCCCCGCCCCCGCCCTCCGCGGTGGGAGCACTGCCTCCGGAACGCACTGCACTAATGTGGAGACCTCGAGATTCTGCGAGGTCCCTGCCTTGCCCCCGGGTTCACATACTCATGCGCGGGTTGAGGGCGCAGGGATCGCTGTGCTGCTTCTGCAGGTCCTGGCAGTCCCCGTGCAGCTTCCAGGCGTTCCTGAAGTCCTCCACCCGGGGCTCCGCCAGCCCAGAGGGGGTAAGGAAGTCGTCGCCCTGGTTGCCATTGTAATTCCCACACAGGCCGCAGGTCTTCCCGGCATAGACGGGGGACAGCTGCAGGAGAGACCAGGCCACTCTGGAGCCGCTGCCGCGAAAGCAGCGGCATAGTTGTTTAGCTAATGAGATGGTTTTAATAAAAAAAAAAAAGTTCCCCGGGTGAAACATAAATATGAATGTAATAAAAGGCAGCTAAGCCCTAGGCTGCAAAAGGGGGGGCGGGGGAAAGTGAACTGCAGTGTAAATTTACCAGCTCCATCCCTGTTCCCAAATCATCAGAGCCCTGTACTGCCACAAGAGATTTTAGAAATTATCAGATCATCTAAGGATGGAGAAGGGAGGCCCAAAGAGGCAAAGTGACTTGCCTAAGGTCAGGGAGGTAGTGGCGGAGCTAGGGTGAGTAGGCAGGTTGAGCCCAGCCCGAAGCACTCTGCCCTCTGTGCCATCCACACCAGTGGGCCTGACCCCCCCACCCAGAGTTACGTGCAAACTCAAGGCCCCTCTATATAGAAAGACTTCGCGTTGGTCACTCGGTGTGGGCCCAGCAGGCTGCCAGGTGTGGTCCAAGCCCTCCGGGAGCTCACGGTTAATGACAAGAAACACCTCCCCACAACCTGCTGCCTGCCACTCAGGCCCTGGGCATCACTGAAGAGAAAGGGCCACGAGCCACAGAAGACTCTGAGGGTGATGATGGATAGGAGTAGGAGTCTGCAGAGGCTCTGAGGCAGCCTGCCAGGGTGACAGCAGCAAAGCAGCGGCACAGTTCAAACTCCAGGCCATGAGCATGTGGTTTACTGTCCATTCTCAGAACTGAACAAAGTTCTGAGCCCAAAGTGCACATTCGGGAACAACCAGCAGAGTGGAGCCCGCCCTTCCCCCACACAGCTGGGGGCATCTGCTGGTTTCTACGGAGAGGACCCCGATTTGAAGGTGGAGCGGGGGCTGGGACCCAGGAGTCCTGACTCCCTCTCCGCATGTCATTACCAAGGTGGGATGACCTCCCTGCGTTCTGAATCCCTCAGGGGCTAGGGTCAGCTCTTAGAGCCCCTTTTCAGCTTCCAGCTCCAACCTAACAAAATGCAGGGTTAACAATCCAGTAGAAGGTCCCAGGCCCATAGAAATCGAACCCAAGTAAACACTGTTAAGAAAGGGGACAGAGTAATGTTTCCTTGTTTGCTTGACAAATACCAAATGTTGTCACATTAGGCCTTCTCCCACCTCCTTATTTAAAATTTAAATCCCCCCAATCCTGGCACATCCTGCCCCTTTCTCTGCTTTATTTCCCCCAGGATCTATCACTTTCCGATCTATAATATAATTTACTTGTTTGCTTTGTTTATTGTCTGTCTCTCTCCATTAGAACTTAAGCTAAATGAGGCAAGGATTTTTGTCTGTTTTGTCTCACTGCTGTAATCTCAGCATCCAGAATGGTGCCTGTCTTAGCCCTTCCAGGCTGCTATAACAAAATACCACAGACTGCGTGGCTTATAGACAACTGATATTGATTGCCCACAGTTCTGGAATCTGGGAAGTCCAAGATGAAGGCATCAGCAGATTTGGTGTCTGGTGAGGACCCTGCTTTCCGGTTCATAGATGGTGCCTTCTAGCTGTGTCCTCACATGGTGGAAGGGGCTAGCAAGCTCTCTGAGGTCTTTTAAAAGGGCACAAATCTCATTCTTCATCATCTCCCAAAGGCCCCACCTCGTAACACCATCACCTTGGGGGTTAGGATTTCAACATATAAATTTGGGGAGGACACAGACATTCAGTCCACAGCAGTGCCAGCAGACACTCAGTAAGTGTTTGTTGAATGAATGAATCGTTGAACAAATGAATGAATAAGTAAGTGAATGACTAGGTTCTCCTCCTGATGTGCTGGAATGCAATGCCCGCAGTCAGGGCACCCTGGGCAAGGCGGCATAACTGGTGGTGCACCTCCACTCCCTTCCCGCCTCTCAGCATCTTTTCTCTCTCCTTTCTCAGAGTTTGA
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Task1_train_17039
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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; von Willebrand disease type 1
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CGAGTTCCCCAAACAAAGTTACTGTTGGGGCCCAGGCCACCCTCCAATTTCCCTCAACACAAGTGCGTTCATGGATACAGTACAACAGGACAACGTACATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGGGAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTACCAGGGCAGCTGCAGCCATCCACGCATCGCTCCTGACACATTTCATTGATGTGCAGGCTCTGGCAGGTCCTGGCGCAAGGGGACACACACTGCCTATACTCCATACCAGCAGGGCACACTGGGCCTGAAAAGGAACATCAAAGGGGTCTACCCAGGGCAGGTCCCACCGGTGCATCATCTCACCAGCCATGCCACAGCCTGAGCCTCTCGTGCCCACTCTGACTGCTCCCCTCTGTCTTCAGGCTTCCAGGTCCTTCTCACCCCCAGTGAGCCACGTGCCCCCCTGAGGCCACCCCTCCCTTAGATGAACATCTTCCATCTTGTGAGGCCCTTACCAAGACCCATCGGGGGCACCCAGGACCCCCACCCTTCCCCTTGGTCGCCTGCTCTCCATGTATAACTTGGCATTCTTTCCTCCCCTTCACCTAAAACCCTTTCAGAGTGACACCAAACTCCTCTAGGCTCAAAACAAGTGGAGTCCTACGACAAAGCAAGGAGCCATGGTGCCCTCCATCCCATCCCTCCTCCTTTTCCCCATGAAATTGGCCCCAATCAAATGCCCCACCCAGCACAGGGCACATTTGCCTGCATGGTGACACTCATTCCATATTTATTTCCACTCTGCCACAAGGCTGCCTTCACAGATATCACCTAAGCACTCTCTGTTCTTCCCAATGGAACCAGCTCCTCACTGCAAGGACAGGCTCTCCTCCTTCCTCTCTCTACCCTGTAGCTGAGCGACATTCAGGCTGACTGAAAGACCGAAACACATAAGCACTCTTTTCTGGGCTTTCTGACACCAAACTATTGCCCCTTAACCCTTCTCCAAGATACATCAGGTTATCTCCCCTACCCTACATTCACAGACCTAAAAAAAAAAAAAAAAAAAAAAACAGCCACTCGGCTTTACAGAGAAGAAACCAGCTGCTAGCATCCTCCTTCCTCACACCCCCACCACAGGCAGAAAGTTTGAATTCAGCAGCTATTTGCCACACACTGAGACACACGTGTGCAGTGTAAAGATGTGGCCGGCTCAGCTCATCTGTGGAACCATCACAGACTGCTTATCCGTCTGCATGGCTTTTAATCACTGGAAGGGCTGGGGAAAGAGGAGACTTCTTGCAAGGTGACCTCAGAAGTCCCCACTTAATCCTGATAATTTGGGGACAGTGACCATAACTAGGCACCCATTGAGACTGGAAGATGAAACACACAGCACGAGTAAGGCAGGAGGGATAGCGGTCATTAGCCTGGAGGAGAGAGATTTAATAAAAGAGAAGAACTTAATGAATGCTTTCTGCTCTCTCAAAGATCACCACACACGGACAGCCAGGTCAGCGTCCTGCTCCTCATCAATTCGGGCGGGCAGGCGGTGAAGACAAAAACCAAAACCGCAACTGCCAAGATCTTGGTGGGAAGCAGAGAACACTGTGTGAGTGCAGGGGTCGGATTTCCTGAGGGAAGTCAGGGGGCGCCAGGGGAGGCGTGGGGGCGGGACGGAGGCAGGGGCAGGACACGGGGCTTTGGGAAGCCCGTTTGACAGAGGGCAGGAGCCATTCAGGAAATGGGTCCGGGACACGTGGCTTTGTAGTCACTGGCTGGCTGGGTGTGGTAAAGCCGCACATACGTGACACAGCCCCGAAGCACCCTAAGGGACACCACCCAGGACAGACCGTTCATCCCCGGCAGGGCAGGACGGGGCAGGGGGCCGACTTACTGCACGCGCTGTGGTCGGTCCAGCCGTACAGCACCATTCCCTCCTGGGCACAGGTCCGGGCGTACTCCAGGAGGGCAGGGCAGGCGCACTCCAGCCCCCCAGCACACTCACACAAAGTCTTCTCACACAGGGCCACAAAAGGCTCGGGGTCCACCAGAGGGTGGCAGCGGGCAAACACCGAGGTGCTCTTCAGAAGCTGGCACTGCTCCCACAGGCCCTGCAGGAAGAGGGGCCGCCTCAGCGGTATGCTCCGTTAGTGTCTCCCTGAGTGTGGCACTGAGACTTAGCCCTGCTAGGGAAACCAAGGCAGCTCCCTCAGCACCTGGGACAGGCTGGCACCAAGCACATGCATGTGTTCAATGCACCAGCCCATCGACCAAGGAAAAGATGCTGGACCCGTGCAATGTGAAGTAGACCAAGGCTAAGGTTACATCCTAGACTGAGTCCTGGAAATGCAGAGTCCAAGGCCCTGGATTGCCATGGTGGGCAGTGTCCTAGGAACGGACAGAGGATGGAGAGAAGCACAAAGAGCATGCGCCCTGGAGTTGGCCTGGGTGGCTGCAGAGTCCAGGAATGCTGTCAGCATCGGTTCTGCACTGACCTGTTCAGCTCCCCTCCCTGACCTTGATCTTCTTCACTATGAATGAGGGGGATGGGACAAGGGGCTTTATAGAGATTTCTGGGTCTCACCCTAGGAGATCTGAATGCAGTAGTTTGGGATGGGGATCAGCAAGATTTTTTTTTTTTTAAACACTCCCCAGGTGATTGCTGGGGCCAGACGGGACCAGTTCCCATCAGCAACAGCATGCGCTGATTCTGTGGAATGTCCCAGACACACTGCAGCAAGCACGAGTATTCTTGGTTCTACCACTTTGCTGATGCCCTCAACCTGATAACACAGGCAGCTTTGGAATTGTCATCATTTCCTACTTCTGCTCACTCACGAGTATCAACGACCCTACGTTTTACCTAGAAACATCTCTCCATTCTGTATGTTAATGACTCTAAATACACCTTTTTCCCACAGTGTAACATCTCTGAAGTTGGATTGCGTCTTAGGATGGCTATCATATTTGAATTGGTAGGCTTTTGTTTCTGAGCGATACACAGAACAATGGTGTGTCTTAGAATCCATGATGTCTTTCTTAGCTTTGGCACAACACAGAGTCATGGATATATATGATCCCCATGATTTCTTTCTTGCATAACTTCTTGGATGCATAATGCAATACTCTCTGACTGACAAAGCTGCAAGTTCATGAAAAAACTTATGATCTTCAGCTAAAAAGAAAAAAGTGCAAGAATATCTCAATGGAAGGACTGGGTCCTGAAGGGTAAACTGGAGCCAGTTGGTATTTGGGAAAGGGGACAGCAAAAAAGAGGAAAGAAACGACCCGTTTTGAGGAGAGGGAAATTCAATCAGCTTGAATTGTACCAAGGGTCTCCAGAGCAAGCCTGTATAAATCTACAGTCGGGGCCAGGGGCCAGGCCTGTGGGCCTCCTGTTTTGCGGCGCCACAGAAAGCCCACAGGAATAGAAACCTGACCCCATCTGCTCACCGTTCTCGAAATCCAGTCCGGCAGCACAGGGACGTTGGTCCTAAGGAAATCAGTGTTCTAGCCCCAATGCCTGGTGCTAGGGCCCTGCCGCTTGCTAGGCCTCCACCCACTTCACCATCAAAGCCAAGCAGGCAGGCCTGGAAAAGATGCCCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGTCGGGCGGATCACTTGAGATCAGGAATTTGAAACCAGCCTGGCCAATATGGTGAGACCCCATCTCTACTGAAAATATAAAACTTAGTGGGGCGTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGGGGCAAGAGAATTGCTTGAACGGCGGGGCAGGGGTGGAGGTTAAAGTGAGCTGAGATTGTGCCACTGCACTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAACAAGCCGGGTTCTCTCTGCACCTTAGGAAAGCACCCACCGGCATGGGCTGCTCAACTGCAGAAGTGCAGCAGGTAGGCTCATGGGGACAGCCATCAGCTGCTCTGCGTCTCGGGGCCAA
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CGAGTTCCCCAAACAAAGTTACTGTTGGGGCCCAGGCCACCCTCCAATTTCCCTCAACACAAGTGCGTTCATGGATACAGTACAACAGGACAACGTACATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGGGAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTACCAGGGCAGCTGCAGCCATCCACGCATCGCTCCTGACACATTTCATTGATGTGCAGGCTCTGGCAGGTCCTGGCGCAAGGGGACACACACTGCCTATACTCCATACCAGCAGGGCACACTGGGCCTGAAAAGGAACATCAAAGGGGTCTACCCAGGGCAGGTCCCACCGGTGCATCATCTCACCAGCCATGCCACAGCCTGAGCCTCTCGTGCCCACTCTGACTGCTCCCCTCTGTCTTCAGGCTTCCAGGTCCTTCTCACCCCCAGTGAGCCACGTGCCCCCCTGAGGCCACCCCTCCCTTAGATGAACATCTTCCATCTTGTGAGGCCCTTACCAAGACCCATCGGGGGCACCCAGGACCCCCACCCTTCCCCTTGGTCGCCTGCTCTCCATGTATAACTTGGCATTCTTTCCTCCCCTTCACCTAAAACCCTTTCAGAGTGACACCAAACTCCTCTAGGCTCAAAACAAGTGGAGTCCTACGACAAAGCAAGGAGCCATGGTGCCCTCCATCCCATCCCTCCTCCTTTTCCCCATGAAATTGGCCCCAATCAAATGCCCCACCCAGCACAGGGCACATTTGCCTGCATGGTGACACTCATTCCATATTTATTTCCACTCTGCCACAAGGCTGCCTTCACAGATATCACCTAAGCACTCTCTGTTCTTCCCAATGGAACCAGCTCCTCACTGCAAGGACAGGCTCTCCTCCTTCCTCTCTCTACCCTGTAGCTGAGCGACATTCAGGCTGACTGAAAGACCGAAACACATAAGCACTCTTTTCTGGGCTTTCTGACACCAAACTATTGCCCCTTAACCCTTCTCCAAGATACATCAGGTTATCTCCCCTACCCTACATTCACAGACCTAAAAAAAAAAAAAAAAAAAAAAACAGCCACTCGGCTTTACAGAGAAGAAACCAGCTGCTAGCATCCTCCTTCCTCACACCCCCACCACAGGCAGAAAGTTTGAATTCAGCAGCTATTTGCCACACACTGAGACACACGTGTGCAGTGTAAAGATGTGGCCGGCTCAGCTCATCTGTGGAACCATCACAGACTGCTTATCCGTCTGCATGGCTTTTAATCACTGGAAGGGCTGGGGAAAGAGGAGACTTCTTGCAAGGTGACCTCAGAAGTCCCCACTTAATCCTGATAATTTGGGGACAGTGACCATAACTAGGCACCCATTGAGACTGGAAGATGAAACACACAGCACGAGTAAGGCAGGAGGGATAGCGGTCATTAGCCTGGAGGAGAGAGATTTAATAAAAGAGAAGAACTTAATGAATGCTTTCTGCTCTCTCAAAGATCACCACACACGGACAGCCAGGTCAGCGTCCTGCTCCTCATCAATTCGGGCGGGCAGGCGGTGAAGACAAAAACCAAAACCGCAACTGCCAAGATCTTGGTGGGAAGCAGAGAACACTGTGTGAGTGCAGGGGTCGGATTTCCTGAGGGAAGTCAGGGGGCGCCAGGGGAGGCGTGGGGGCGGGACGGAGGCAGGGGCAGGACACGGGGCTTTGGGAAGCCCGTTTGACAGAGGGCAGGAGCCATTCAGGAAATGGGTCCGGGACACGTGGCTTTGTAGTCACTGGCTGGCTGGGTGTGGTAAAGCCGCACATACGTGACACAGCCCCGAAGCACCCTAAGGGACACCACCCAGGACAGACCGTTCATCCCCGGCAGGGCAGGACGGGGCAGGGGGCCGACTTACTGCACGCGCTGTGGTCGGTCCAGCCGTACAGCACCATTCCCTCCTGGGCACAGGTCCAGGCGTACTCCAGGAGGGCAGGGCAGGCGCACTCCAGCCCCCCAGCACACTCACACAAAGTCTTCTCACACAGGGCCACAAAAGGCTCGGGGTCCACCAGAGGGTGGCAGCGGGCAAACACCGAGGTGCTCTTCAGAAGCTGGCACTGCTCCCACAGGCCCTGCAGGAAGAGGGGCCGCCTCAGCGGTATGCTCCGTTAGTGTCTCCCTGAGTGTGGCACTGAGACTTAGCCCTGCTAGGGAAACCAAGGCAGCTCCCTCAGCACCTGGGACAGGCTGGCACCAAGCACATGCATGTGTTCAATGCACCAGCCCATCGACCAAGGAAAAGATGCTGGACCCGTGCAATGTGAAGTAGACCAAGGCTAAGGTTACATCCTAGACTGAGTCCTGGAAATGCAGAGTCCAAGGCCCTGGATTGCCATGGTGGGCAGTGTCCTAGGAACGGACAGAGGATGGAGAGAAGCACAAAGAGCATGCGCCCTGGAGTTGGCCTGGGTGGCTGCAGAGTCCAGGAATGCTGTCAGCATCGGTTCTGCACTGACCTGTTCAGCTCCCCTCCCTGACCTTGATCTTCTTCACTATGAATGAGGGGGATGGGACAAGGGGCTTTATAGAGATTTCTGGGTCTCACCCTAGGAGATCTGAATGCAGTAGTTTGGGATGGGGATCAGCAAGATTTTTTTTTTTTTAAACACTCCCCAGGTGATTGCTGGGGCCAGACGGGACCAGTTCCCATCAGCAACAGCATGCGCTGATTCTGTGGAATGTCCCAGACACACTGCAGCAAGCACGAGTATTCTTGGTTCTACCACTTTGCTGATGCCCTCAACCTGATAACACAGGCAGCTTTGGAATTGTCATCATTTCCTACTTCTGCTCACTCACGAGTATCAACGACCCTACGTTTTACCTAGAAACATCTCTCCATTCTGTATGTTAATGACTCTAAATACACCTTTTTCCCACAGTGTAACATCTCTGAAGTTGGATTGCGTCTTAGGATGGCTATCATATTTGAATTGGTAGGCTTTTGTTTCTGAGCGATACACAGAACAATGGTGTGTCTTAGAATCCATGATGTCTTTCTTAGCTTTGGCACAACACAGAGTCATGGATATATATGATCCCCATGATTTCTTTCTTGCATAACTTCTTGGATGCATAATGCAATACTCTCTGACTGACAAAGCTGCAAGTTCATGAAAAAACTTATGATCTTCAGCTAAAAAGAAAAAAGTGCAAGAATATCTCAATGGAAGGACTGGGTCCTGAAGGGTAAACTGGAGCCAGTTGGTATTTGGGAAAGGGGACAGCAAAAAAGAGGAAAGAAACGACCCGTTTTGAGGAGAGGGAAATTCAATCAGCTTGAATTGTACCAAGGGTCTCCAGAGCAAGCCTGTATAAATCTACAGTCGGGGCCAGGGGCCAGGCCTGTGGGCCTCCTGTTTTGCGGCGCCACAGAAAGCCCACAGGAATAGAAACCTGACCCCATCTGCTCACCGTTCTCGAAATCCAGTCCGGCAGCACAGGGACGTTGGTCCTAAGGAAATCAGTGTTCTAGCCCCAATGCCTGGTGCTAGGGCCCTGCCGCTTGCTAGGCCTCCACCCACTTCACCATCAAAGCCAAGCAGGCAGGCCTGGAAAAGATGCCCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGTCGGGCGGATCACTTGAGATCAGGAATTTGAAACCAGCCTGGCCAATATGGTGAGACCCCATCTCTACTGAAAATATAAAACTTAGTGGGGCGTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGGGGCAAGAGAATTGCTTGAACGGCGGGGCAGGGGTGGAGGTTAAAGTGAGCTGAGATTGTGCCACTGCACTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAACAAGCCGGGTTCTCTCTGCACCTTAGGAAAGCACCCACCGGCATGGGCTGCTCAACTGCAGAAGTGCAGCAGGTAGGCTCATGGGGACAGCCATCAGCTGCTCTGCGTCTCGGGGCCAA
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Task1_train_17040
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Chromosome 12 houses a mutation in gene VWF (von Willebrand factor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Hereditary von Willebrand disease
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CGAGTTCCCCAAACAAAGTTACTGTTGGGGCCCAGGCCACCCTCCAATTTCCCTCAACACAAGTGCGTTCATGGATACAGTACAACAGGACAACGTACATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGGGAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTACCAGGGCAGCTGCAGCCATCCACGCATCGCTCCTGACACATTTCATTGATGTGCAGGCTCTGGCAGGTCCTGGCGCAAGGGGACACACACTGCCTATACTCCATACCAGCAGGGCACACTGGGCCTGAAAAGGAACATCAAAGGGGTCTACCCAGGGCAGGTCCCACCGGTGCATCATCTCACCAGCCATGCCACAGCCTGAGCCTCTCGTGCCCACTCTGACTGCTCCCCTCTGTCTTCAGGCTTCCAGGTCCTTCTCACCCCCAGTGAGCCACGTGCCCCCCTGAGGCCACCCCTCCCTTAGATGAACATCTTCCATCTTGTGAGGCCCTTACCAAGACCCATCGGGGGCACCCAGGACCCCCACCCTTCCCCTTGGTCGCCTGCTCTCCATGTATAACTTGGCATTCTTTCCTCCCCTTCACCTAAAACCCTTTCAGAGTGACACCAAACTCCTCTAGGCTCAAAACAAGTGGAGTCCTACGACAAAGCAAGGAGCCATGGTGCCCTCCATCCCATCCCTCCTCCTTTTCCCCATGAAATTGGCCCCAATCAAATGCCCCACCCAGCACAGGGCACATTTGCCTGCATGGTGACACTCATTCCATATTTATTTCCACTCTGCCACAAGGCTGCCTTCACAGATATCACCTAAGCACTCTCTGTTCTTCCCAATGGAACCAGCTCCTCACTGCAAGGACAGGCTCTCCTCCTTCCTCTCTCTACCCTGTAGCTGAGCGACATTCAGGCTGACTGAAAGACCGAAACACATAAGCACTCTTTTCTGGGCTTTCTGACACCAAACTATTGCCCCTTAACCCTTCTCCAAGATACATCAGGTTATCTCCCCTACCCTACATTCACAGACCTAAAAAAAAAAAAAAAAAAAAAAACAGCCACTCGGCTTTACAGAGAAGAAACCAGCTGCTAGCATCCTCCTTCCTCACACCCCCACCACAGGCAGAAAGTTTGAATTCAGCAGCTATTTGCCACACACTGAGACACACGTGTGCAGTGTAAAGATGTGGCCGGCTCAGCTCATCTGTGGAACCATCACAGACTGCTTATCCGTCTGCATGGCTTTTAATCACTGGAAGGGCTGGGGAAAGAGGAGACTTCTTGCAAGGTGACCTCAGAAGTCCCCACTTAATCCTGATAATTTGGGGACAGTGACCATAACTAGGCACCCATTGAGACTGGAAGATGAAACACACAGCACGAGTAAGGCAGGAGGGATAGCGGTCATTAGCCTGGAGGAGAGAGATTTAATAAAAGAGAAGAACTTAATGAATGCTTTCTGCTCTCTCAAAGATCACCACACACGGACAGCCAGGTCAGCGTCCTGCTCCTCATCAATTCGGGCGGGCAGGCGGTGAAGACAAAAACCAAAACCGCAACTGCCAAGATCTTGGTGGGAAGCAGAGAACACTGTGTGAGTGCAGGGGTCGGATTTCCTGAGGGAAGTCAGGGGGCGCCAGGGGAGGCGTGGGGGCGGGACGGAGGCAGGGGCAGGACACGGGGCTTTGGGAAGCCCGTTTGACAGAGGGCAGGAGCCATTCAGGAAATGGGTCCGGGACACGTGGCTTTGTAGTCACTGGCTGGCTGGGTGTGGTAAAGCCGCACATACGTGACACAGCCCCGAAGCACCCTAAGGGACACCACCCAGGACAGACCGTTCATCCCCGGCAGGGCAGGACGGGGCAGGGGGCCGACTTACTGCACGCGCTGTGGTCGGTCCAGCCGTACAGCACCATTCCCTCCTGGGCACAGGTCCGGGCGTACTCCAGGAGGGCAGGGCAGGCGCACTCCAGCCCCCCAGCACACTCACACAAAGTCTTCTCACACAGGGCCACAAAAGGCTCGGGGTCCACCAGAGGGTGGCAGCGGGCAAACACCGAGGTGCTCTTCAGAAGCTGGCACTGCTCCCACAGGCCCTGCAGGAAGAGGGGCCGCCTCAGCGGTATGCTCCGTTAGTGTCTCCCTGAGTGTGGCACTGAGACTTAGCCCTGCTAGGGAAACCAAGGCAGCTCCCTCAGCACCTGGGACAGGCTGGCACCAAGCACATGCATGTGTTCAATGCACCAGCCCATCGACCAAGGAAAAGATGCTGGACCCGTGCAATGTGAAGTAGACCAAGGCTAAGGTTACATCCTAGACTGAGTCCTGGAAATGCAGAGTCCAAGGCCCTGGATTGCCATGGTGGGCAGTGTCCTAGGAACGGACAGAGGATGGAGAGAAGCACAAAGAGCATGCGCCCTGGAGTTGGCCTGGGTGGCTGCAGAGTCCAGGAATGCTGTCAGCATCGGTTCTGCACTGACCTGTTCAGCTCCCCTCCCTGACCTTGATCTTCTTCACTATGAATGAGGGGGATGGGACAAGGGGCTTTATAGAGATTTCTGGGTCTCACCCTAGGAGATCTGAATGCAGTAGTTTGGGATGGGGATCAGCAAGATTTTTTTTTTTTTAAACACTCCCCAGGTGATTGCTGGGGCCAGACGGGACCAGTTCCCATCAGCAACAGCATGCGCTGATTCTGTGGAATGTCCCAGACACACTGCAGCAAGCACGAGTATTCTTGGTTCTACCACTTTGCTGATGCCCTCAACCTGATAACACAGGCAGCTTTGGAATTGTCATCATTTCCTACTTCTGCTCACTCACGAGTATCAACGACCCTACGTTTTACCTAGAAACATCTCTCCATTCTGTATGTTAATGACTCTAAATACACCTTTTTCCCACAGTGTAACATCTCTGAAGTTGGATTGCGTCTTAGGATGGCTATCATATTTGAATTGGTAGGCTTTTGTTTCTGAGCGATACACAGAACAATGGTGTGTCTTAGAATCCATGATGTCTTTCTTAGCTTTGGCACAACACAGAGTCATGGATATATATGATCCCCATGATTTCTTTCTTGCATAACTTCTTGGATGCATAATGCAATACTCTCTGACTGACAAAGCTGCAAGTTCATGAAAAAACTTATGATCTTCAGCTAAAAAGAAAAAAGTGCAAGAATATCTCAATGGAAGGACTGGGTCCTGAAGGGTAAACTGGAGCCAGTTGGTATTTGGGAAAGGGGACAGCAAAAAAGAGGAAAGAAACGACCCGTTTTGAGGAGAGGGAAATTCAATCAGCTTGAATTGTACCAAGGGTCTCCAGAGCAAGCCTGTATAAATCTACAGTCGGGGCCAGGGGCCAGGCCTGTGGGCCTCCTGTTTTGCGGCGCCACAGAAAGCCCACAGGAATAGAAACCTGACCCCATCTGCTCACCGTTCTCGAAATCCAGTCCGGCAGCACAGGGACGTTGGTCCTAAGGAAATCAGTGTTCTAGCCCCAATGCCTGGTGCTAGGGCCCTGCCGCTTGCTAGGCCTCCACCCACTTCACCATCAAAGCCAAGCAGGCAGGCCTGGAAAAGATGCCCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGTCGGGCGGATCACTTGAGATCAGGAATTTGAAACCAGCCTGGCCAATATGGTGAGACCCCATCTCTACTGAAAATATAAAACTTAGTGGGGCGTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGGGGCAAGAGAATTGCTTGAACGGCGGGGCAGGGGTGGAGGTTAAAGTGAGCTGAGATTGTGCCACTGCACTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAACAAGCCGGGTTCTCTCTGCACCTTAGGAAAGCACCCACCGGCATGGGCTGCTCAACTGCAGAAGTGCAGCAGGTAGGCTCATGGGGACAGCCATCAGCTGCTCTGCGTCTCGGGGCCAA
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CGAGTTCCCCAAACAAAGTTACTGTTGGGGCCCAGGCCACCCTCCAATTTCCCTCAACACAAGTGCGTTCATGGATACAGTACAACAGGACAACGTACATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGGGAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTACCAGGGCAGCTGCAGCCATCCACGCATCGCTCCTGACACATTTCATTGATGTGCAGGCTCTGGCAGGTCCTGGCGCAAGGGGACACACACTGCCTATACTCCATACCAGCAGGGCACACTGGGCCTGAAAAGGAACATCAAAGGGGTCTACCCAGGGCAGGTCCCACCGGTGCATCATCTCACCAGCCATGCCACAGCCTGAGCCTCTCGTGCCCACTCTGACTGCTCCCCTCTGTCTTCAGGCTTCCAGGTCCTTCTCACCCCCAGTGAGCCACGTGCCCCCCTGAGGCCACCCCTCCCTTAGATGAACATCTTCCATCTTGTGAGGCCCTTACCAAGACCCATCGGGGGCACCCAGGACCCCCACCCTTCCCCTTGGTCGCCTGCTCTCCATGTATAACTTGGCATTCTTTCCTCCCCTTCACCTAAAACCCTTTCAGAGTGACACCAAACTCCTCTAGGCTCAAAACAAGTGGAGTCCTACGACAAAGCAAGGAGCCATGGTGCCCTCCATCCCATCCCTCCTCCTTTTCCCCATGAAATTGGCCCCAATCAAATGCCCCACCCAGCACAGGGCACATTTGCCTGCATGGTGACACTCATTCCATATTTATTTCCACTCTGCCACAAGGCTGCCTTCACAGATATCACCTAAGCACTCTCTGTTCTTCCCAATGGAACCAGCTCCTCACTGCAAGGACAGGCTCTCCTCCTTCCTCTCTCTACCCTGTAGCTGAGCGACATTCAGGCTGACTGAAAGACCGAAACACATAAGCACTCTTTTCTGGGCTTTCTGACACCAAACTATTGCCCCTTAACCCTTCTCCAAGATACATCAGGTTATCTCCCCTACCCTACATTCACAGACCTAAAAAAAAAAAAAAAAAAAAAAACAGCCACTCGGCTTTACAGAGAAGAAACCAGCTGCTAGCATCCTCCTTCCTCACACCCCCACCACAGGCAGAAAGTTTGAATTCAGCAGCTATTTGCCACACACTGAGACACACGTGTGCAGTGTAAAGATGTGGCCGGCTCAGCTCATCTGTGGAACCATCACAGACTGCTTATCCGTCTGCATGGCTTTTAATCACTGGAAGGGCTGGGGAAAGAGGAGACTTCTTGCAAGGTGACCTCAGAAGTCCCCACTTAATCCTGATAATTTGGGGACAGTGACCATAACTAGGCACCCATTGAGACTGGAAGATGAAACACACAGCACGAGTAAGGCAGGAGGGATAGCGGTCATTAGCCTGGAGGAGAGAGATTTAATAAAAGAGAAGAACTTAATGAATGCTTTCTGCTCTCTCAAAGATCACCACACACGGACAGCCAGGTCAGCGTCCTGCTCCTCATCAATTCGGGCGGGCAGGCGGTGAAGACAAAAACCAAAACCGCAACTGCCAAGATCTTGGTGGGAAGCAGAGAACACTGTGTGAGTGCAGGGGTCGGATTTCCTGAGGGAAGTCAGGGGGCGCCAGGGGAGGCGTGGGGGCGGGACGGAGGCAGGGGCAGGACACGGGGCTTTGGGAAGCCCGTTTGACAGAGGGCAGGAGCCATTCAGGAAATGGGTCCGGGACACGTGGCTTTGTAGTCACTGGCTGGCTGGGTGTGGTAAAGCCGCACATACGTGACACAGCCCCGAAGCACCCTAAGGGACACCACCCAGGACAGACCGTTCATCCCCGGCAGGGCAGGACGGGGCAGGGGGCCGACTTACTGCACGCGCTGTGGTCGGTCCAGCCGTACAGCACCATTCCCTCCTGGGCACAGGTCCAGGCGTACTCCAGGAGGGCAGGGCAGGCGCACTCCAGCCCCCCAGCACACTCACACAAAGTCTTCTCACACAGGGCCACAAAAGGCTCGGGGTCCACCAGAGGGTGGCAGCGGGCAAACACCGAGGTGCTCTTCAGAAGCTGGCACTGCTCCCACAGGCCCTGCAGGAAGAGGGGCCGCCTCAGCGGTATGCTCCGTTAGTGTCTCCCTGAGTGTGGCACTGAGACTTAGCCCTGCTAGGGAAACCAAGGCAGCTCCCTCAGCACCTGGGACAGGCTGGCACCAAGCACATGCATGTGTTCAATGCACCAGCCCATCGACCAAGGAAAAGATGCTGGACCCGTGCAATGTGAAGTAGACCAAGGCTAAGGTTACATCCTAGACTGAGTCCTGGAAATGCAGAGTCCAAGGCCCTGGATTGCCATGGTGGGCAGTGTCCTAGGAACGGACAGAGGATGGAGAGAAGCACAAAGAGCATGCGCCCTGGAGTTGGCCTGGGTGGCTGCAGAGTCCAGGAATGCTGTCAGCATCGGTTCTGCACTGACCTGTTCAGCTCCCCTCCCTGACCTTGATCTTCTTCACTATGAATGAGGGGGATGGGACAAGGGGCTTTATAGAGATTTCTGGGTCTCACCCTAGGAGATCTGAATGCAGTAGTTTGGGATGGGGATCAGCAAGATTTTTTTTTTTTTAAACACTCCCCAGGTGATTGCTGGGGCCAGACGGGACCAGTTCCCATCAGCAACAGCATGCGCTGATTCTGTGGAATGTCCCAGACACACTGCAGCAAGCACGAGTATTCTTGGTTCTACCACTTTGCTGATGCCCTCAACCTGATAACACAGGCAGCTTTGGAATTGTCATCATTTCCTACTTCTGCTCACTCACGAGTATCAACGACCCTACGTTTTACCTAGAAACATCTCTCCATTCTGTATGTTAATGACTCTAAATACACCTTTTTCCCACAGTGTAACATCTCTGAAGTTGGATTGCGTCTTAGGATGGCTATCATATTTGAATTGGTAGGCTTTTGTTTCTGAGCGATACACAGAACAATGGTGTGTCTTAGAATCCATGATGTCTTTCTTAGCTTTGGCACAACACAGAGTCATGGATATATATGATCCCCATGATTTCTTTCTTGCATAACTTCTTGGATGCATAATGCAATACTCTCTGACTGACAAAGCTGCAAGTTCATGAAAAAACTTATGATCTTCAGCTAAAAAGAAAAAAGTGCAAGAATATCTCAATGGAAGGACTGGGTCCTGAAGGGTAAACTGGAGCCAGTTGGTATTTGGGAAAGGGGACAGCAAAAAAGAGGAAAGAAACGACCCGTTTTGAGGAGAGGGAAATTCAATCAGCTTGAATTGTACCAAGGGTCTCCAGAGCAAGCCTGTATAAATCTACAGTCGGGGCCAGGGGCCAGGCCTGTGGGCCTCCTGTTTTGCGGCGCCACAGAAAGCCCACAGGAATAGAAACCTGACCCCATCTGCTCACCGTTCTCGAAATCCAGTCCGGCAGCACAGGGACGTTGGTCCTAAGGAAATCAGTGTTCTAGCCCCAATGCCTGGTGCTAGGGCCCTGCCGCTTGCTAGGCCTCCACCCACTTCACCATCAAAGCCAAGCAGGCAGGCCTGGAAAAGATGCCCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGTCGGGCGGATCACTTGAGATCAGGAATTTGAAACCAGCCTGGCCAATATGGTGAGACCCCATCTCTACTGAAAATATAAAACTTAGTGGGGCGTGGTGGCGCATGCTTGTAATCCCAGCTACTCGGGAGGCTGGGGCAAGAGAATTGCTTGAACGGCGGGGCAGGGGTGGAGGTTAAAGTGAGCTGAGATTGTGCCACTGCACTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAACAAGCCGGGTTCTCTCTGCACCTTAGGAAAGCACCCACCGGCATGGGCTGCTCAACTGCAGAAGTGCAGCAGGTAGGCTCATGGGGACAGCCATCAGCTGCTCTGCGTCTCGGGGCCAA
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Task1_train_17041
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A change on Chromosome 12 affects gene TNFRSF1A (TNF receptor superfamily member 1A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Behcet disease
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CCAGCTAGCTGTTATGGGATTGTTGTTTCATCACTGTTTTGCTGATAAGAATCCTTTGGCAAAGAGAGGTTAAAGGGCTTTTTCTTAAATGACACTGCTAGTTACAGTACCTGACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGG
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CCAGCTAGCTGTTATGGGATTGTTGTTTCATCACTGTTTTGCTGATAAGAATCCTTTGGCAAAGAGAGGTTAAAGGGCTTTTTCTTAAATGACACTGCTAGTTACAGTACCTGACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTACACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGG
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Task1_train_17042
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A variant found in Chromosome 12 affects TNFRSF1A (TNF receptor superfamily member 1A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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TTACAGTACCTGACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGG
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TTACAGTACCTGACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCGGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGG
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Task1_train_17043
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Here is a genetic alteration in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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ACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCA
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ACTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGTAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCA
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Task1_train_17044
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This genomic variant is located on Chromosome 12, within the TNFRSF1A (TNF receptor superfamily member 1A) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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CTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAG
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CTTCGGGGAGTCGGGGTCAAACATGCATGTGAAAAATTTAAAAACACATGTTACTGGGGCAGCCAGAGAGCACCCTGTAGAACTAGCAGATCTTCCATGTTGGGAGTTGTCACTGGACAGTGTGGAGTGATGGGAACTCTATGGGGTGGTGCTGGAAGGAACTTGAGAGAGTGAGTTCCCAGCAGGAAGCTGAAAGCAGGGAGAGGCACTTTAGCCCACCACTCAAGCTCATGGTGAGAACCACATAGAATGGTATAAAAGTGATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCGAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAG
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Task1_train_17045
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Given this context: Chromosome 12, gene TNFRSF1A (TNF receptor superfamily member 1A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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ATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCA
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ATTTCAAGAAGAGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGACCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCA
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Task1_train_17046
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Assess the clinical impact of this variant on gene TNFRSF1A (TNF receptor superfamily member 1A), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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AGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAG
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AGATGAAGCCGGCTGGGTGCAGTGGCTCACGGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCTGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAG
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Task1_train_17047
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An alteration has been detected in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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AGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAAC
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AGGCAGAGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGAAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAAC
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Task1_train_17048
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A change on Chromosome 12 affects gene TNFRSF1A (TNF receptor superfamily member 1A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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AGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGA
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AGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCATATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGA
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Task1_train_17049
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Chromosome 12 houses a mutation in gene TNFRSF1A (TNF receptor superfamily member 1A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Multiple sclerosis
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AGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGA
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AGGCAGGTGGATCACCAGGAGTTTGAGACCAGCCTGACCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCATATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGA
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Task1_train_17050
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A variant has been detected on Chromosome 12 in TNFRSF1A (TNF receptor superfamily member 1A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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TGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGA
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TGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGTACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGA
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Task1_train_17051
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This mutation occurs in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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CGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGATGAAGAACT
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CGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTAGAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGATGAAGAACT
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Task1_train_17052
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This variant impacts the gene TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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GTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGATGAAGAACTG
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GTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACGGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGATGAAGAACTG
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Task1_train_17053
|
This sequence variant lies in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; TNF receptor-associated periodic fever syndrome (TRAPS)
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GTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGATGAAGAACTGGG
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GTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGAAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGATGAAGAACTGGG
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Task1_train_17054
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This mutation occurs in TNFRSF1A (TNF receptor superfamily member 1A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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TTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTGGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGATGAAGAACTGGGGGACGCCAGCCCCAGACAGCCT
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TTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAAGGCCCAGGCCAGGCGTGGTGGCTCATGCCCGTAATCCTAGCACTTTGGGAGGCTGAGGCGGAAGATCGCTTGAGCCCAGGAGTCCGAGGCCAGCCTGGGCAATATAGTAGGACCCTGTCTCTACAAAAAGTAAAACATTAGCTGGGTGTAGTGGTGTGTGCCTCTAATCCCAGCTACTCAGGAGGCTAAGGCAAGAGGATGGCTTGAGCCCTGGAGGTGGAGGCTGAGCCACGGTTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACCAAAAGAAAAGTCAGGCTCAGAGATGTTAAGAAACTTGCCCAACGTCACATAGCCAGTAAGTGGCTATGCTGGGGTTCAAACTCTGAGAGCCCTCAGAGTTTATTCTTTGCAAGTGAGTGACAAGAACAGCCTCTGTGGAGCCAGGAGTAAGGAGGCCTGGACAGTGACTAATGAGGAAATACCATATTGCATCAAACCTAAGACGCCATCAAGAATAAAAGGCACTTTTCTTTACATTACTACCCAGACGCAAACAGAGCTGCCAATTCAACCATGATGAGTCACCAGTTATAGGAGGTTTGATTTCAGAGCTATAAGAGTGTATGTCCTAGAACCAATGAGCTATCGTAGATCCAAGAATCTACATATCTGAGTTGGAAGGGCTGCCAGCCCTTGGGGCATGATCTTCCATCCTCAAAGACTTCTTCAGATTTGAAGAGCAAGGGGAAGGACTGCCTGGTGTCTTAACGAAGTGTCTCCTACTCAGCCAGTAGGACCCTGAGCACTCTGGGGCATCCTGGCATCTGTTGCCCAGCTAATGGTTCCCACCAGTCACCCGTCCCAACCCATGCCACCATCCAGTGCCCAGCAGCTCTCAGAGATACTCACTTACTACAGGAGACACACTCGTTTTCTCTTAGAAAGAAACCTGCATGGCAGGTGCACACGGTGTTCTGTTTCTCCTGGCCTGTAGGGAGAAGTGCGGCACAGCTAAAGGAGAAGCGCCTGCACCCCCACCCCACAGGACAGAGGAAGTGACGAGGGACAGGGTGGGGGCGGCCAGAGAGGAGTTGGTTGTCAGACCCACAGAATACAGGAGGGGGAAGGAAAGGAAGTGCCACCGCATGGGGAAGGGGCCAACCCCTGGGGTGGGGAGAGGGCTTGGCCTCAGGAGAGCTGCGCTCACAGGAGAGGTGCACGGTCCCATTGAGGCAGAGGCTGCAATTGAAGCACTGGAAAAGGTTTTCACTCCAATAATGCCGGTACTGGTTCTTCCTGCAGCCACACACGGTGTCCCGGTCCACTGTGCAAGAAGAGATCTCCACCTGACCCATTTCTGGTGAGGGGAGAAGATGGGGTATGAGTCCTGCATCCTCCTGTCCCTGCATCCCCTTCCTGACATACCCCTAAGTGTGTGTCTCTGTAATACACACTCACATCCATGCAGTGTCCCACCAAAACACACACCTTCCTGCCCACACCCACCAGCCTGCACATAGACAGGCACCCACACACCACTCAAGACCCGCCTGACTCTCCTGCCTGTGCACACTCACCCTTTCGGCATTTGGAGCAGCTGAGGCAGTGTCTGAGGTGGTTTTCTGAAGCGGTGAAGGAGCCGCTCTCACACTCCCTGCAGTCCGTATCCTGCCCCGGGCCTGGACAGTCATTGTACAAGTAGGTTCCTGTGAATGGGGCCGCAGAGTTAGGCTGCGGGTGAGAACACAAGGAAGGAGCCCCATGCTAGGGACAACAGCCAGGGCCGATTCCCTGAAGTCTCTAGGAGAGGAGGGAGGGAGAAAATCCCAGCCCAGGAGAGACAGCAAAGTTAGGGAAGAACAACTGGAAGAAGCAGAGAAAGAAGCAGCACCCCAGACCTGAGGGCATTCACCGTTTCCACTTGCCCCTACCTTTGTGGCACTTGGTACAGCAAATCGAATTATTTTGAGGGTAGATATATTTTCCTTGGGGACACACACTATCTCTCTTCTCCCTGTCCCCTAGGTGAGGGACCAGTCCAATAACCCCTGAGGGGTATATTCCCACCAACAGCTCCAGGAGCACCTGGGGAAGAATCAGATAGAGGAGACACCATCAAGAGAGGGAGGGATGGGAAGCTTAGGGGTAGCAGATCTAAAACTTCCCTGGCTCAAGTCCTTCCTCAGTGAAACATTCCGCCCAGGCCACGCCACTCACTAAGTTTAGAGTTCTTCCTTGAAACTTAGACAGTTGGGGCCATACAATCTGATGCTTAATTGTTCTCTAGTTGTCCTGTGTGTTCATTTTTGTTCCCTCAACTCAAAGCTAGTAGGCCCCAGATCTAAGCTGTATTTTTTTTTTTTTAGGCAGGATCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGATGCAATCACTGCACCCTCCACCACCCACGCTCAAGCAGTCCTCCCACCTTAGCCTCCTGAATAGCTGGGACTACGGCCGTGAACCACCATGCCCAGCTAATTTTTTTTTATTTTTAGTAGAGGCAGGGTCTTGTTACGTTGCTCAGACTGGTCTCAAAATCCTGGGCTCAAGTGATCCTCCCACCTTGGCTTCCCAAAGTGCTAGGATTACAGGCGTGAGCCCAGCCCTGTATTTTATCCTTACTGTGAAATCCCCCACAGCAGCTAACAGTGCTGGACACAGGGCAGATGTTGAAAGGATGTGTTTTTGATTGGGAATTGGCAGGTTACTTCAGTGATGGCCCCTTCTTCCAACAAGCAGCCCTAAAGATTGGGGCGGTGTTTCTCCATCTGGGTGCTGGGTTCACCGTGTGATCGCTTTGCGAACATTCACAGAGGTAAACAATGAGGATCTATGCACATCCCAGGAATATGTTACACCATGAAAAGCTTTCTGAAAAAGTCAGCTGGCGGTGGGGGCGAGTGATGTTCCCGTGAGCACCACTCCTGGGGAGTGGACAGAAGAAGGAAGTTTATTTACATGTTTGTATCAAACCTCAATCTGCCTCCGCCCTCACATTCCCTGGCCCATCCCCTCCACCTCAAAATTTACAAACACCCGGGGTTGGCAAGGACAAATGGGGAGGAGAGTAAAAGGGAAAGGTTGGGGATCCTGCATGGGTAGACGGGGGACAAAGTTGAGACGGGGGCAGGAGTGGGCAAAGGTGTGCAGGACATAGGCAAATAGAGCTGGCCAAGGCTAGCGACCCAGCTTGGATGACTGTCAGGTCAGAGCTGAGGGCGTGCTGGGGAGTCCTGGAGCCCCCTGCACACCATGGCATTCTGGAAGGTGTGCTTTGCAGTCTCAGGCCAACCCCACAGCAGCTAAATGGCTTGTCCTGTTCCGGCATCAGTGCCAGGAAAGCAAAGCCAGGAGTGAATATTTAGCTCTAACTTGGACTTTGATCTCTGCCAGCTTCATTTCTGGTTTTCCCTGGGCTTCATTTTTTTTTTCTACTATAAGAGACACTTTGTGTAAAGATAAGAGGGTGTCCTCAATGTCTGTTAAACACTGGGGAGCAACTGACTCACCAGATCACAGAAACCCTAGGGCAGGGAAGGAGGGTCAGGCAGCCCACAGCCACCCAGCCTCACCAACTCCACATTTCGGAGCAGGAGGCCAGTCACCCTGAGTCAGCCACGGGGAGACGCTGCAGCTGTAAGCTGTGCAGGCCCGGAAGTTCAAGCCTCAGCCGCAAACAGGGGAAGCCACACACAGAAACACAACAGCAGCCCCCGCAGGTGGAGGCGTGTGCCCCTGCTCAGAGGACAACAACCTTCCCCTGCCCGCACCAGCCAACACCGTGCCACCTCTGCTGAGAACAGGACTGGGGCTTCCAGGGCAACAGGAAGGGTTTGGGGTGGTGATGGGAAGAACTTCCCAGTCCTGAAAGTGTGGTTCCTTTCCCCGAAGAAGCCACTGGAGCACCTAAGGTCACTGGTACTTTGAATCCCATCCAGGGGGCTTGAGGCAGAGTCATGATGAAGAACTGGGGGACGCCAGCCCCAGACAGCCT
|
Task1_train_17055
|
A variant on Chromosome 12 in gene SCNN1A (sodium channel epithelial 1 subunit alpha) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Bronchiectasis with or without elevated sweat chloride 2
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CTGCAGGCCCCAGAGGCAGGGCTTATGGCTTCCTTTCCCCGGCTTTTTCCTGGACTGTCTAGGGCCCCGCATCCAGCAGAACCTAAGAACTGTGCAGGCCTCACCCGATTCACCCCTGCCCTCCCTTTCCATCTCTCACTGACATATTTTCAACCACAAATATTTATTGAGTGCCCACTGCCCCGCCTGCTGTCCTTCCCCTTCCTGCTGGGTCCCTCCCCTCCACCAAGGCCTAAAGGGGTGAAGATGTCTGCAGGCAGCAGGGGGAGAAAAATGAGGCTAAGAGGAAGGACCCAAGAGAGCTCTGAAATGAGGCGGAAGCCACATCTGACTGGAAGTTTCATTCACTCAAAGCCCCACATCTTGGGTATTAAAAAGAGGCAGAGTTTTGGGATTAGGCGTAAACAGGATGAGTCACAGCTCAGTCACTCTCTCTGTGATGTTGTGACTTGCCTCTCTTTGCCTTAGTTTCCTCAAGTGTAAAATAGGGATAACAATAGCACCGGGCTTGTAAGATGTGAGAATGAAATGAGATACCCAAGACACCTTCGCAGCGTCTGTGCACACGGCAGCTTCCTAAGGAAATGGTCCCTACCTGGGACATTATACAGACGTTAATCAACGAAATGACCTGGCTTTTTTTTTTCTCTCTCTCTCCAGGACAGGACGTCCCACCCTTTCTTAGTCCGTAACGCACCTTTGGACATGATGGAATATACGAAGGGGCCTCCACCCACAGCATGACCAATCCCCAGCATCCAAAATCGCACACATACCAATATGTGCACACACACACTCACACCCACACCCATAAAGATTTTGCACTCCTTGAAGGTACACTAACTCACCATTTTTATCATACTTATCCCAGTGTGCCACAGTTACTGGCTTATATGCCTGTCTCTGCTATCTTATTTTATCTGTCTCCACAACACAGCAAACTACCTGGCCTTCAATAAAGGGCTTATGAATTATTCATGAATCCATTTTGCCAGGTGCCTAGCCCTGTGTCTGGCTTGAAGCAGGTGTTCCCAAGGTGTGGCATGGCTGAGTGAATACAAATAAAAGGTATACAAAAGCACTCAGCCCTGCCCTCCTCTCTTCTCCACGCTTACCACCTGCTCCGGTTTCCAGACCCAACATTGGCAAAGAGCACCGATGAAACCCAAAAGTTCAGGACACACCCAAGCACGTAAAGGTCAGGCACCTGGGCAGGTCAACAGTGCAGCATTTTAGCCTGGGTCTTTTGGGGGAAGAGCTTCACAAGGAGCTGCTCTCTAGCCTGACCCATTCTCCTTGTTCTGTAAGGCCCCTGCCCCCAGCCTTTGGGCTCACTTGCAGCCCTAACCTCCACGATCCCCCTCTTTGCTTTCTCCATAATAAATTCCCCTTCTAAACAAAGACTGACAGCACCACCTCCACAGCACCTGCACGGTCTCGCCTCCCCTCACCTAGCCTCACCCCTCCATCAGACTCTCCTGCTGAGGTGGACGAGGTCTTATACTTTGCTGGCATCTTGCTCCAGAAAAGGGATGCAGCTGAGCACACCCCTGCCCTTTTGCAAGCACTCCCTCCCACTTGCAGGAGGGAGAAGGGAATGGGAGGGAAGGAGAAGAGAGGGCAGGGGAGGGCAATGCTGCTCCAACAACCACACTCTGGGTGAGCCTGGGGTGCTAGGATGGCTCCACTGGGCAGGGACGCCAGTCCAGTAAGCTGGAGGCTCCTCATTTTGCCAGCAGTGAGCTCTACCTGGGACAGGGGTGTCAGTTCCCACCCTCAGGTCTGAGGCTCTGCCTGCCCAGTGAGCACCTCAGCACCCTGGACCACCCTTCCAGGCGCAGGCACCAGGGAAGGGGCAGAGGGACTAACCGACCTGTAGGGATTGAGGGTGCAGATGGTCACTGCGGGGAAGACGAGCTTGTCCGAGTTGAGGTTGATGTTGAGGCTGACGGGGTAGCTGAAGTACTCTCCGAAAAGCAGGCCGAATTGCCAGTACATCATGCCAAAGGTGCAGAGCCACAGCACTGCCCAGAAGGCCGTCTTCATGCGGTTGTGCTGGGAGCACACCAGGCGGATGGCGCCGTGGATGGTGGTGTTGTTGCAGAAGAACTCGAAGAGCTCTCGGTAGGAGCGGTGGAACTCGATCAGGGCCTCCTCCTCCGCCGTGGGCTGCTGGGGCGCCGCAGGTTCGGGGCCCAGCCCCTGCTCCTCACGCTTGTTCCCCTTCATGAGCCCTGGAGTGGACTGTGGAGGGCTAGAGTCCTGCTCCTCCAGCTTGTTCCCCTCCATGAGACCTGGTATGGGCTGCAGAGGTCTAGGGTCCTGCTCCTCCAGCTTGTTCCCCTTCATGAGCCCCGGAGTGGATTGGGGAGAGCAAGGGTCAGGGTCAAGGCTGAGCTCTGGGCCCTGAGTGCCCTCTCCCATCACCCCTGGAACCCGAGTGAGGCTGCCCCTGGCCATGCCCATGTCCCACCCTGCGCCCACATTCTCCCACTCCTCCCTCCCTCCTCCACCTTTCCTGGAGCCAGCAGACCTGCGGGAGTTGGGGCCAAAAGTGCCGGAGCTGGGCTTCCCTAGAACGGCCTCTCCTCTGCTTCCCTGATAGGGCCACCTTTCGAGTTTTGTCCTAGCACCTCCCTTTCTGTCTCTGCCCCCTTCCTTTGGTCTTCTTCCTCCAGGATCTGTGTCTCAGCTCCTGCCTCTCACTCCCTCTCTATCTGCCTTCTGTTTCTCTTTGGGTCTCTCCTGCTCTCCTCTTTCTGGCCTGCCTCCTCTCTCTAATCCTGCCTCTCTTCCTCTCCCCCCCTTGCCTTGCCCCCTCTCACTCTAGGCCCTCAGCTCCAGCCTCTGGCCCTGACCTCGAGCTGTGTCCTGATTCTGTCTCTGCCCCAGGACTGCAGGGCTCCAGGAGGTCTGGGCTGCCTCCAGCTTCCCACTCCCAGGTTGCGGCTGGACTGGGACTGGTTCCTTTCCAGTTGAATCTGGCAGCCAAACCTCTCCTCCCCCTCACCTGACAGGTGCAGCGGCCTGGCTGGGGAGCCCGCCCGCTGGCCGGCCAGGGATGGAAGCGACAGGAATCTCATTAGCATCTCAATTAAAGGTGAGCAGGGCGGGGGGAGGGGCTGAGGAGGAGTCAGAGCCGGGAGTTTTCCGAAGGAAGGAGGGCTCCCGAGGGCAGGTGAACTGGGAGTACTGGACCTGAGAAGGCGGACTCTGGGCAGGGGCTTTAGACGCAGACAGGCAAGGAGGCTGGGGGACAGGATGGCAGGTGAGGGGCAAAGATCTGAACAAGTAGAAGGATCCTGAGCCCACAGCTAGGAGGGCAACACAAGGAGAAGGGGCCAGCCAGGCTGAGAGGGCCTGGGTGGGGAACCGGGAGGACAGGAGGGCAGAAAGAGGGAGACAATAGAGAGGGACAGCGAAGGACAGAGAGATAGGGATGGAGGAGGGGCACTGAGTGAGTAGAGGCAGGTGGGGGGCAGTGGTGGGGGCAAATAGAAGGAGCCAGCACCAAAGGGAGTCTGTCTCCAGGAAGGAGAGCAAGGGGGGAGTCCCAAGTGTGCTTCCAGGAGCTAGAGGCTCAGCAAGTGGGCAGCCCTCCAAGGGCACCCACAGGTCAGCCTCACCCTCAGGCCCTGCAGAGAAGAGAGAAGAGGTCTCTGCAGGTCTCCTCCCCGCTCACTAAGTGGGAGCAGCGCACTCAGGTGGGATGCGTCTGCCTCCTCCTGGTCCCTCCTCTTTCCTGCTGATTCCTCGCCACCCCCTCCAACCTTGTCCAGACCCGGGAGGGGCCCAGGTGAAGCTGGGGGCTAGGCGGGGCCCTAGGACATTCTGTTCTTTTTTACACTGTTGGCTGCCAGGCCAGGAATGTGTAATCGCCCCTGCTGTGGTCACAGAGTTGCAGGAATGTGGGCAACCAGAGGCAGCGCGAGGGCCACGCAGGACACTGTGGACACAGACCCGGAGCCCAGGAAGAGGCAGGGAAAGCAGGCACTGAAGGTGCAGGGAGGATGTGGCCAGCGCTGGAAAGGAAGAGGGTGGGCATGGCACACGCCTAGACAGGCCCTGGGAGGAGGAGAAATTCGTTGATGGGCTA
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CTGCAGGCCCCAGAGGCAGGGCTTATGGCTTCCTTTCCCCGGCTTTTTCCTGGACTGTCTAGGGCCCCGCATCCAGCAGAACCTAAGAACTGTGCAGGCCTCACCCGATTCACCCCTGCCCTCCCTTTCCATCTCTCACTGACATATTTTCAACCACAAATATTTATTGAGTGCCCACTGCCCCGCCTGCTGTCCTTCCCCTTCCTGCTGGGTCCCTCCCCTCCACCAAGGCCTAAAGGGGTGAAGATGTCTGCAGGCAGCAGGGGGAGAAAAATGAGGCTAAGAGGAAGGACCCAAGAGAGCTCTGAAATGAGGCGGAAGCCACATCTGACTGGAAGTTTCATTCACTCAAAGCCCCACATCTTGGGTATTAAAAAGAGGCAGAGTTTTGGGATTAGGCGTAAACAGGATGAGTCACAGCTCAGTCACTCTCTCTGTGATGTTGTGACTTGCCTCTCTTTGCCTTAGTTTCCTCAAGTGTAAAATAGGGATAACAATAGCACCGGGCTTGTAAGATGTGAGAATGAAATGAGATACCCAAGACACCTTCGCAGCGTCTGTGCACACGGCAGCTTCCTAAGGAAATGGTCCCTACCTGGGACATTATACAGACGTTAATCAACGAAATGACCTGGCTTTTTTTTTTCTCTCTCTCTCCAGGACAGGACGTCCCACCCTTTCTTAGTCCGTAACGCACCTTTGGACATGATGGAATATACGAAGGGGCCTCCACCCACAGCATGACCAATCCCCAGCATCCAAAATCGCACACATACCAATATGTGCACACACACACTCACACCCACACCCATAAAGATTTTGCACTCCTTGAAGGTACACTAACTCACCATTTTTATCATACTTATCCCAGTGTGCCACAGTTACTGGCTTATATGCCTGTCTCTGCTATCTTATTTTATCTGTCTCCACAACACAGCAAACTACCTGGCCTTCAATAAAGGGCTTATGAATTATTCATGAATCCATTTTGCCAGGTGCCTAGCCCTGTGTCTGGCTTGAAGCAGGTGTTCCCAAGGTGTGGCATGGCTGAGTGAATACAAATAAAAGGTATACAAAAGCACTCAGCCCTGCCCTCCTCTCTTCTCCACGCTTACCACCTGCTCCGGTTTCCAGACCCAACATTGGCAAAGAGCACCGATGAAACCCAAAAGTTCAGGACACACCCAAGCACGTAAAGGTCAGGCACCTGGGCAGGTCAACAGTGCAGCATTTTAGCCTGGGTCTTTTGGGGGAAGAGCTTCACAAGGAGCTGCTCTCTAGCCTGACCCATTCTCCTTGTTCTGTAAGGCCCCTGCCCCCAGCCTTTGGGCTCACTTGCAGCCCTAACCTCCACGATCCCCCTCTTTGCTTTCTCCATAATAAATTCCCCTTCTAAACAAAGACTGACAGCACCACCTCCACAGCACCTGCACGGTCTCGCCTCCCCTCACCTAGCCTCACCCCTCCATCAGACTCTCCTGCTGAGGTGGACGAGGTCTTATACTTTGCTGGCATCTTGCTCCAGAAAAGGGATGCAGCTGAGCACACCCCTGCCCTTTTGCAAGCACTCCCTCCCACTTGCAGGAGGGAGAAGGGAATGGGAGGGAAGGAGAAGAGAGGGCAGGGGAGGGCAATGCTGCTCCAACAACCACACTCTGGGTGAGCCTGGGGTGCTAGGATGGCTCCACTGGGCAGGGACGCCAGTCCAGTAAGCTGGAGGCTCCTCATTTTGCCAGCAGTGAGCTCTACCTGGGACAGGGGTGTCAGTTCCCACCCTCAGGTCTGAGGCTCTGCCTGCCCAGTGAGCACCTCAGCACCCTGGACCACCCTTCCAGGCGCAGGCACCAGGGAAGGGGCAGAGGGACTAACCGACCTGTAGGGATTGAGGGTGCAGATGGTCACTGCGGGGAAGACGAGCTTGTCCGAGTTGAGGTTGATGTTGAGGCTGACGGGGTAGCTGAAGTACTCTCCGAAAAGCAGGCCGAATTGCCAGTACATCATGCCAAAGGTGCAGAGCCACAGCACTGCCCAGAAGGCCGTCTTCATGCAGTTGTGCTGGGAGCACACCAGGCGGATGGCGCCGTGGATGGTGGTGTTGTTGCAGAAGAACTCGAAGAGCTCTCGGTAGGAGCGGTGGAACTCGATCAGGGCCTCCTCCTCCGCCGTGGGCTGCTGGGGCGCCGCAGGTTCGGGGCCCAGCCCCTGCTCCTCACGCTTGTTCCCCTTCATGAGCCCTGGAGTGGACTGTGGAGGGCTAGAGTCCTGCTCCTCCAGCTTGTTCCCCTCCATGAGACCTGGTATGGGCTGCAGAGGTCTAGGGTCCTGCTCCTCCAGCTTGTTCCCCTTCATGAGCCCCGGAGTGGATTGGGGAGAGCAAGGGTCAGGGTCAAGGCTGAGCTCTGGGCCCTGAGTGCCCTCTCCCATCACCCCTGGAACCCGAGTGAGGCTGCCCCTGGCCATGCCCATGTCCCACCCTGCGCCCACATTCTCCCACTCCTCCCTCCCTCCTCCACCTTTCCTGGAGCCAGCAGACCTGCGGGAGTTGGGGCCAAAAGTGCCGGAGCTGGGCTTCCCTAGAACGGCCTCTCCTCTGCTTCCCTGATAGGGCCACCTTTCGAGTTTTGTCCTAGCACCTCCCTTTCTGTCTCTGCCCCCTTCCTTTGGTCTTCTTCCTCCAGGATCTGTGTCTCAGCTCCTGCCTCTCACTCCCTCTCTATCTGCCTTCTGTTTCTCTTTGGGTCTCTCCTGCTCTCCTCTTTCTGGCCTGCCTCCTCTCTCTAATCCTGCCTCTCTTCCTCTCCCCCCCTTGCCTTGCCCCCTCTCACTCTAGGCCCTCAGCTCCAGCCTCTGGCCCTGACCTCGAGCTGTGTCCTGATTCTGTCTCTGCCCCAGGACTGCAGGGCTCCAGGAGGTCTGGGCTGCCTCCAGCTTCCCACTCCCAGGTTGCGGCTGGACTGGGACTGGTTCCTTTCCAGTTGAATCTGGCAGCCAAACCTCTCCTCCCCCTCACCTGACAGGTGCAGCGGCCTGGCTGGGGAGCCCGCCCGCTGGCCGGCCAGGGATGGAAGCGACAGGAATCTCATTAGCATCTCAATTAAAGGTGAGCAGGGCGGGGGGAGGGGCTGAGGAGGAGTCAGAGCCGGGAGTTTTCCGAAGGAAGGAGGGCTCCCGAGGGCAGGTGAACTGGGAGTACTGGACCTGAGAAGGCGGACTCTGGGCAGGGGCTTTAGACGCAGACAGGCAAGGAGGCTGGGGGACAGGATGGCAGGTGAGGGGCAAAGATCTGAACAAGTAGAAGGATCCTGAGCCCACAGCTAGGAGGGCAACACAAGGAGAAGGGGCCAGCCAGGCTGAGAGGGCCTGGGTGGGGAACCGGGAGGACAGGAGGGCAGAAAGAGGGAGACAATAGAGAGGGACAGCGAAGGACAGAGAGATAGGGATGGAGGAGGGGCACTGAGTGAGTAGAGGCAGGTGGGGGGCAGTGGTGGGGGCAAATAGAAGGAGCCAGCACCAAAGGGAGTCTGTCTCCAGGAAGGAGAGCAAGGGGGGAGTCCCAAGTGTGCTTCCAGGAGCTAGAGGCTCAGCAAGTGGGCAGCCCTCCAAGGGCACCCACAGGTCAGCCTCACCCTCAGGCCCTGCAGAGAAGAGAGAAGAGGTCTCTGCAGGTCTCCTCCCCGCTCACTAAGTGGGAGCAGCGCACTCAGGTGGGATGCGTCTGCCTCCTCCTGGTCCCTCCTCTTTCCTGCTGATTCCTCGCCACCCCCTCCAACCTTGTCCAGACCCGGGAGGGGCCCAGGTGAAGCTGGGGGCTAGGCGGGGCCCTAGGACATTCTGTTCTTTTTTACACTGTTGGCTGCCAGGCCAGGAATGTGTAATCGCCCCTGCTGTGGTCACAGAGTTGCAGGAATGTGGGCAACCAGAGGCAGCGCGAGGGCCACGCAGGACACTGTGGACACAGACCCGGAGCCCAGGAAGAGGCAGGGAAAGCAGGCACTGAAGGTGCAGGGAGGATGTGGCCAGCGCTGGAAAGGAAGAGGGTGGGCATGGCACACGCCTAGACAGGCCCTGGGAGGAGGAGAAATTCGTTGATGGGCTA
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Task1_train_17056
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A mutation found in CD27, CD27-AS1 (CD27 molecule| CD27 antisense RNA 1) 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; Lymphoproliferative syndrome 2
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GCGAACTGCAAGTCCCTGTTCGACAAGTTTCTTCCTAAAGGTCCCCAGTTCCTCATGATTCTTCTGAGGGTCTCATCCACCCTCCCAGGGCCTGCAGTCAGCTAGCCACCCCACTGCCCCATGCCTGCAGTGAACACATTTACCACAACCTGGAAATGGCTGGTGACAGAAAAGTCCTCACGGCCACAACACTCTCTGCGGTGGGAATTCAGGTGCCTTGCCTGATGGTGACAAAGCTGGTTTTGCATAAACAGCTCTCTGAATCACACCCAAATGTGGCTTCTGACTTGAGTGGACCCCCATGAAGAGCTGCAGAGGGGGCTGGGAAAAGACAAGAGAATGGAGAAAATGAGGAGAAAGGAAACTACAGAGTGAGATAGAGAACAGATCTGACAGGTGTGACCACAGCAGTGTGACATTTATGAACAGTGTGGAAACAACGGCAAAGCCCCTAAATTAAAAACTTCCTGGGGAAATAAGCCACTCCACATATCGGTTGCTGAGGAAAGAGTGGAGGAGGCTGTTGACCCGTGTGTGTCCCCATGACTCAAAGAGGGAAAAGTCTAGCTGTTTCCAATATCCCGAAATCAGTCTTGCTGGGAGAACTGGGAAAATAAAAAAGAGATGACCCCCGTAGGAAGCTACCTTTAATCCCAAGTGCCCAAGGCTAGGAGAGAAGATGCTCCAGGCGATCCAGGACACCAGTGACTGACACAGCCAGAGGTGGGAAAGGGGAGGATAAAGATGGCACAAAAGTGAGGAGTGAGCAAGGGTCTGAGAGGGAAGGCCATGTGGGCAGTAGGTGGCACCCACATCAGAGACTGACATGAGGATTAAAGGAGAGCATAGGTGATCGGTCAGAGTGTGACAGAAGAGAGGCAGCTCTACACCCCTTGCTTGCAATTCTGAGCATTCTGTAGCAAACTCGTTTGGCCATCAAACCAGACCTCAATTGAGACAAGGCTATTTAAGCTTCCTCCCAGTTGGTGTAAATATTCAATAGTTTTGCTGCAGAAATGTTGCGTTTGATTATGAGACTACCCCAACTCCCCAAGGGTGTTTTGTGGTGCTGGTTTCTGTATAAACCTGAAAAATTCTGAATTCCAAAACTTATCTGACCCCCAAAGTTTCAGATAAGAGCTTGTGGACCTGTGCTCAATTCTGGTTCTCCTTCCTTCTTTCAACTGTTGTCTGTGAAAGGAGGGATGCAGGTATGGGAGACAGGAGTCCTGCGAATTCGTCTGTAAACTGTGGACGGGGGGGTGGGTGGGGGGGGGTAACGTGGGCACCTTTGTGCACAAGTGCATGAATAGGAGGGGTGAGCAACTGTGTGTCCATCACCTTTTTGTCAAAGAAGCAGGAGTCAGTGGGCTACGTGCTTCATGAGCAGGAGAGGCGGAAACTAAGGAAGGCTCATGTGTTGGAGGAAGCATGTTTGAAGAGCAGCAGGTCTCACAGAGTTTGCTCTTTAATACTCTCCCCAGCACACGGAAGGGGAAGGGGGTGGAGGTTGCTGCTATGAGAGAGAAAAAAAAAACAGCCACAATAGAGATTCTGCCTTCAAAGGTTGGCTTGCCACCTGAAGCAGCCACTGCCCAGGGGGTGCAAAGAAGAGACAGCAGCGCCCAGCTTGGAGGTGCTAACTCCAGAGGCCAGCATCAGCAACTGGGCACAGAAAGGAGCCGCCTGGGCAGGGACCATGGCACGGCCACATCCCTGGTGGCTGTGCGTTCTGGGGACCCTGGTGGGGCTCTCAGCTACTCCAGCCCCCAAGAGCTGCCCAGAGAGGCACTACTGGGCTCAGGGAAAGCTGTGCTGCCAGATGTGTGAGCCAGGTAAGAGGGGGCCTTGGTAAGGGCCAGGTGAGTGGCGAAAGAGAGAGGACTGGGGTTAATACAGTAAATAGGCGCAGGGTGAGACTGAGCTCAAGCAAGGAGGGAAATCCTGCAGCTGTGGGGAGGCACCACCTTGAAGAGGGCAGAGAACCAGCCCTTCTCAGGCCTTGATCCCTTACCCTCTCCTCCCAGGAACATTCCTCGTGAAGGACTGTGACCAGCATAGAAAGGCTGCTCAGTGTGATCCTTGCATACCGGGGGTCTCCTTCTCTCCTGACCACCACACCCGGCCCCACTGTGAGAGCTGTCGGCACTGTAACTCTGGTGAGGTGGGCAAGGGTGTGTAGGTGGGGACGATGGACAAGCATCTGGGGGAGCAAGGCTGGTGACGGGTTTGGGGGTGCAAGGAGGATGACGGGGCCAAAGCTTTGGCCTTCTTCAAGGCTCACAGCAAGTGGAGCCAATGCTGGGAAATGCGGCACCCTAGGTGGGGCATGAATTAACGTGGGCAGACATCTAGTATTCCAGGAAAGGGATAAATAGAATTTGAGGGATTGGTGAGAACGGGTCTATGGATAGGATCAAGACAATAAAATGAGAGAAGTGGCTCTATGACCCCAGATTTCGGGCAAGCAACCCCCAACCAATAAACTGACTGTGTTCCCAGAGTGCACATGTGCAGGTTGGCCATTGGGAATTTGGAATACATCTTTCTAAGGAAATAACAAAGCAACCCAATAGGTAACAACCTTTTTTTGCACAAAAGCCAATTTGAGAAAATGAGTATGTATGTAGCCTGTGTTTTTATTTTATAGTTCCAAAAAAAAAGGTTTTTTTTAAACTAAGAAGTATAATATCTGCAGTTGTGCTTATGAATGCTGTTATTATTTCTCCATCTTCGCTACAATTTCAGAAACTACGGCCAGTATACACTAGAATAGCAGGCTTTAAAGTGGCCCCTTTGAACAAATGTTCTCTAGCAAGACACTTTTTAGAACCAGGTAACTGTAACTATTAAACTACCTACTTGCAAAACGTGTTTGGTGTCACTGGGTCTCTTGGTACTGGGTTTTGTTTTGTTTAGTTTAGAGACAAGGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCCCCACAGCCTTGAACTCCTGGGCTCAAGCAATCTTCTAGTCTCAGCCTCTGAAAGTGCCAGGATTACAGGTGTGAGCTGTAGTGCCTGGTCCCGTAAAAACAAAAACAAAAACCAACACCAGATGTGGTGGCTCATGCCTATAATCCCAGCACTTGGGAGGCCAAGGCAGAAGGGTATTTGCATATTTTGTAGAGACTTGAGCCCAGGAGCTTGAGACCAGCTGGGCAACATAGTGAGACCTTGTCTCTAAAAAAATTGGCTGGTCATGGTAGTGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAGATGGGAAGATCACTTGAGCCCAAGAGGTCCCCAAGAGGTCCAGGCTGCTCACATCACTGCACTCCAGCCTGGGTAACAGAGCAAAACCCTTTTTCACACACACACACACACACACACAAAAAGCCAGAGCAGTGGCTCACACTTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGCGGATCCCTTGAGCCCAGGAGTTTAAGAACACCCTGGGCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAGGCGTGGTGGCACGAACCTGTAGTCCCAGCTACTCAGAAGGCTGAAGTGAGAAGATCACTTGAGTCCAGGAAGTGGAGGCTGCAGTGAGCCGTGACTGTACCACTGCACTCCAGCTTGGGAGACAGAGTGAGCAGAGTGAGACCCTGTTTCCAAAAAAAAAAAGAAAACAAAAGCTTTTCCATTGCAAATCAACCAAAAAGGAACGTCTTTAATACACAAGAAATATTCTTCAGTCTACTTAACTTAAAAATGTAACTGTAATAGATGCTTTTCTCTTGACAGCGGCCCCGGCAGGGTTGGAACTTTTCCTAGTCAAAACCCCCCTACTCACTCTGCAGACCCTTCCTGAAGGTCTTCGCCCCATACTGAGCCCATCTTCAGTCCCTTCACTTGTTCCAAACTAGCCCAATCCATGACCCTTCTCTGGGAGCTCAGCCAATAGATCCCAAAGTACCACAGCAGCACCTGGCTGCAGAAGGACCCCCGGGAAATGCAGTCAGGGGTGAGAAGATGGGTGGGCTGAATGAGCTCGGCCCTCTCTGGGCCTT
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GCGAACTGCAAGTCCCTGTTCGACAAGTTTCTTCCTAAAGGTCCCCAGTTCCTCATGATTCTTCTGAGGGTCTCATCCACCCTCCCAGGGCCTGCAGTCAGCTAGCCACCCCACTGCCCCATGCCTGCAGTGAACACATTTACCACAACCTGGAAATGGCTGGTGACAGAAAAGTCCTCACGGCCACAACACTCTCTGCGGTGGGAATTCAGGTGCCTTGCCTGATGGTGACAAAGCTGGTTTTGCATAAACAGCTCTCTGAATCACACCCAAATGTGGCTTCTGACTTGAGTGGACCCCCATGAAGAGCTGCAGAGGGGGCTGGGAAAAGACAAGAGAATGGAGAAAATGAGGAGAAAGGAAACTACAGAGTGAGATAGAGAACAGATCTGACAGGTGTGACCACAGCAGTGTGACATTTATGAACAGTGTGGAAACAACGGCAAAGCCCCTAAATTAAAAACTTCCTGGGGAAATAAGCCACTCCACATATCGGTTGCTGAGGAAAGAGTGGAGGAGGCTGTTGACCCGTGTGTGTCCCCATGACTCAAAGAGGGAAAAGTCTAGCTGTTTCCAATATCCCGAAATCAGTCTTGCTGGGAGAACTGGGAAAATAAAAAAGAGATGACCCCCGTAGGAAGCTACCTTTAATCCCAAGTGCCCAAGGCTAGGAGAGAAGATGCTCCAGGCGATCCAGGACACCAGTGACTGACACAGCCAGAGGTGGGAAAGGGGAGGATAAAGATGGCACAAAAGTGAGGAGTGAGCAAGGGTCTGAGAGGGAAGGCCATGTGGGCAGTAGGTGGCACCCACATCAGAGACTGACATGAGGATTAAAGGAGAGCATAGGTGATCGGTCAGAGTGTGACAGAAGAGAGGCAGCTCTACACCCCTTGCTTGCAATTCTGAGCATTCTGTAGCAAACTCGTTTGGCCATCAAACCAGACCTCAATTGAGACAAGGCTATTTAAGCTTCCTCCCAGTTGGTGTAAATATTCAATAGTTTTGCTGCAGAAATGTTGCGTTTGATTATGAGACTACCCCAACTCCCCAAGGGTGTTTTGTGGTGCTGGTTTCTGTATAAACCTGAAAAATTCTGAATTCCAAAACTTATCTGACCCCCAAAGTTTCAGATAAGAGCTTGTGGACCTGTGCTCAATTCTGGTTCTCCTTCCTTCTTTCAACTGTTGTCTGTGAAAGGAGGGATGCAGGTATGGGAGACAGGAGTCCTGCGAATTCGTCTGTAAACTGTGGACGGGGGGGTGGGTGGGGGGGGGTAACGTGGGCACCTTTGTGCACAAGTGCATGAATAGGAGGGGTGAGCAACTGTGTGTCCATCACCTTTTTGTCAAAGAAGCAGGAGTCAGTGGGCTACGTGCTTCATGAGCAGGAGAGGCGGAAACTAAGGAAGGCTCATGTGTTGGAGGAAGCATGTTTGAAGAGCAGCAGGTCTCACAGAGTTTGCTCTTTAATACTCTCCCCAGCACACGGAAGGGGAAGGGGGTGGAGGTTGCTGCTATGAGAGAGAAAAAAAAAACAGCCACAATAGAGATTCTGCCTTCAAAGGTTGGCTTGCCACCTGAAGCAGCCACTGCCCAGGGGGTGCAAAGAAGAGACAGCAGCGCCCAGCTTGGAGGTGCTAACTCCAGAGGCCAGCATCAGCAACTGGGCACAGAAAGGAGCCGCCTGGGCAGGGACCATGGCACGGCCACATCCCTGGTGGCTGTGCGTTCTGGGGACCCTGGTGGGGCTCTCAGCTACTCCAGCCCCCAAGAGCTGCCCAGAGAGGCACTACTGGGCTCAGGGAAAGCTGTGCTGCCAGATGTGTGAGCCAGGTAAGAGGGGGCCTTGGTAAGGGCCAGGTGAGTGGCGAAAGAGAGAGGACTGGGGTTAATACAGTAAATAGGCGCAGGGTGAGACTGAGCTCAAGCAAGGAGGGAAATCCTGCAGCTGTGGGGAGGCACCACCTTGAAGAGGGCAGAGAACCAGCCCTTCTCAGGCCTTGATCCCTTACCCTCTCCTCCCAGGAACATTCCTCGTGAAGGACTATGACCAGCATAGAAAGGCTGCTCAGTGTGATCCTTGCATACCGGGGGTCTCCTTCTCTCCTGACCACCACACCCGGCCCCACTGTGAGAGCTGTCGGCACTGTAACTCTGGTGAGGTGGGCAAGGGTGTGTAGGTGGGGACGATGGACAAGCATCTGGGGGAGCAAGGCTGGTGACGGGTTTGGGGGTGCAAGGAGGATGACGGGGCCAAAGCTTTGGCCTTCTTCAAGGCTCACAGCAAGTGGAGCCAATGCTGGGAAATGCGGCACCCTAGGTGGGGCATGAATTAACGTGGGCAGACATCTAGTATTCCAGGAAAGGGATAAATAGAATTTGAGGGATTGGTGAGAACGGGTCTATGGATAGGATCAAGACAATAAAATGAGAGAAGTGGCTCTATGACCCCAGATTTCGGGCAAGCAACCCCCAACCAATAAACTGACTGTGTTCCCAGAGTGCACATGTGCAGGTTGGCCATTGGGAATTTGGAATACATCTTTCTAAGGAAATAACAAAGCAACCCAATAGGTAACAACCTTTTTTTGCACAAAAGCCAATTTGAGAAAATGAGTATGTATGTAGCCTGTGTTTTTATTTTATAGTTCCAAAAAAAAAGGTTTTTTTTAAACTAAGAAGTATAATATCTGCAGTTGTGCTTATGAATGCTGTTATTATTTCTCCATCTTCGCTACAATTTCAGAAACTACGGCCAGTATACACTAGAATAGCAGGCTTTAAAGTGGCCCCTTTGAACAAATGTTCTCTAGCAAGACACTTTTTAGAACCAGGTAACTGTAACTATTAAACTACCTACTTGCAAAACGTGTTTGGTGTCACTGGGTCTCTTGGTACTGGGTTTTGTTTTGTTTAGTTTAGAGACAAGGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCCCCACAGCCTTGAACTCCTGGGCTCAAGCAATCTTCTAGTCTCAGCCTCTGAAAGTGCCAGGATTACAGGTGTGAGCTGTAGTGCCTGGTCCCGTAAAAACAAAAACAAAAACCAACACCAGATGTGGTGGCTCATGCCTATAATCCCAGCACTTGGGAGGCCAAGGCAGAAGGGTATTTGCATATTTTGTAGAGACTTGAGCCCAGGAGCTTGAGACCAGCTGGGCAACATAGTGAGACCTTGTCTCTAAAAAAATTGGCTGGTCATGGTAGTGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAGATGGGAAGATCACTTGAGCCCAAGAGGTCCCCAAGAGGTCCAGGCTGCTCACATCACTGCACTCCAGCCTGGGTAACAGAGCAAAACCCTTTTTCACACACACACACACACACACACAAAAAGCCAGAGCAGTGGCTCACACTTGTAATCCCAGCACTTTAGGAGGCCAAGGCAGGCGGATCCCTTGAGCCCAGGAGTTTAAGAACACCCTGGGCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAGGCGTGGTGGCACGAACCTGTAGTCCCAGCTACTCAGAAGGCTGAAGTGAGAAGATCACTTGAGTCCAGGAAGTGGAGGCTGCAGTGAGCCGTGACTGTACCACTGCACTCCAGCTTGGGAGACAGAGTGAGCAGAGTGAGACCCTGTTTCCAAAAAAAAAAAGAAAACAAAAGCTTTTCCATTGCAAATCAACCAAAAAGGAACGTCTTTAATACACAAGAAATATTCTTCAGTCTACTTAACTTAAAAATGTAACTGTAATAGATGCTTTTCTCTTGACAGCGGCCCCGGCAGGGTTGGAACTTTTCCTAGTCAAAACCCCCCTACTCACTCTGCAGACCCTTCCTGAAGGTCTTCGCCCCATACTGAGCCCATCTTCAGTCCCTTCACTTGTTCCAAACTAGCCCAATCCATGACCCTTCTCTGGGAGCTCAGCCAATAGATCCCAAAGTACCACAGCAGCACCTGGCTGCAGAAGGACCCCCGGGAAATGCAGTCAGGGGTGAGAAGATGGGTGGGCTGAATGAGCTCGGCCCTCTCTGGGCCTT
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Task1_train_17057
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A variant affecting Chromosome 12, within the gene TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Spastic paraplegia
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GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATGCAAAGAGGAGGAAGAGAAAGGAGGCAAAGTAGAATTCAGACAGGAAAGGGTGGTTCAAAGGGGAATATACTACAGGAAGAACAGAGAGGCGGCTCTCAAGGAGAGGGCCCCATGACAGCACAGCAATACACAAGCACACCTGACACAGGCTGGCACGCCTCCCCCCAAGGTGGGGCTGGTGGGTCTACATGACTTCTCTGCATCCTGAGGATCGGCCGGGCCCCAGGAAGAACCACTTGCCTCATCCCTGTCTTTGGCAAGTGCACGGGTGGTGTGGAGGAAAGGATTCCATGGGTGTCCAAAGATCTCACACTGCTAACACCCTCACGCTCCTTCATCAACAGGAAGAGAGGAACAGGACCCTCTTTAACGAGGGCAAGGAGTGGCTTCCTCTGAGCTTGTTACTTTCAAATTAAGCACTTGACTCACTGTTTCTCTATAACTAACAGGCAATCTCTCTCTTTATGCCAACAATTAACTGGGAGCTAGGTTAAATTATTTGGCTAGATAAAACTACCAGCTAGATGGATTTATTTGGTGCCCTCATACAGAATGCTGTAGAAAATGTAAAGAAGAGAAAGCTCCTTCCAGCTAGAAGCACATGGGACTGCTTCTAGGATGGAAACAAGTCCTGCTATTTTCACAATCCCTAAGTGTTCTCCAGGCCTCTGGAGAACAAAGTAAAGTTGTAAGATCCCCAAAGACACGGAAAATCCTGGACGAACAGATTAGAAATAACTACAAAAAACAAGTTTTTACTTTCGAAAAGGGTACTGCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTACTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGC
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GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATGCAAAGAGGAGGAAGAGAAAGGAGGCAAAGTAGAATTCAGACAGGAAAGGGTGGTTCAAAGGGGAATATACTACAGGAAGAACAGAGAGGCGGCTCTCAAGGAGAGGGCCCCATGACAGCACAGCAATACACAAGCACACCTGACACAGGCTGGCACGCCTCCCCCCAAGGTGGGGCTGGTGGGTCTACATGACTTCTCTGCATCCTGAGGATCGGCCGGGCCCCAGGAAGAACCACTTGCCTCATCCCTGTCTTTGGCAAGTGCACGGGTGGTGTGGAGGAAAGGATTCCATGGGTGTCCAAAGATCTCACACTGCTAACACCCTCACGCTCCTTCATCAACAGGAAGAGAGGAACAGGACCCTCTTTAACGAGGGCAAGGAGTGGCTTCCTCTGAGCTTGTTACTTTCAAATTAAGCACTTGACTCACTGTTTCTCTATAACTAACAGGCAATCTCTCTCTTTATGCCAACAATTAACTGGGAGCTAGGTTAAATTATTTGGCTAGATAAAACTACCAGCTAGATGGATTTATTTGGTGCCCTCATACAGAATGCTGTAGAAAATGTAAAGAAGAGAAAGCTCCTTCCAGCTAGAAGCACATGGGACTGCTTCTAGGATGGAAACAAGTCCTGCTATTTTCACAATCCCTAAGTGTTCTCCAGGCCTCTGGAGAACAAAGTAAAGTTGTAAGATCCCCAAAGACACGGAAAATCCTGGACGAACAGATTAGAAATAACTACAAAAAACAAGTTTTTACTTTCGAAAAGGGTACTGCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTCCTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGC
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Task1_train_17058
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This variant lies on Chromosome 12 and affects the gene TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Spastic ataxia 1
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GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATGCAAAGAGGAGGAAGAGAAAGGAGGCAAAGTAGAATTCAGACAGGAAAGGGTGGTTCAAAGGGGAATATACTACAGGAAGAACAGAGAGGCGGCTCTCAAGGAGAGGGCCCCATGACAGCACAGCAATACACAAGCACACCTGACACAGGCTGGCACGCCTCCCCCCAAGGTGGGGCTGGTGGGTCTACATGACTTCTCTGCATCCTGAGGATCGGCCGGGCCCCAGGAAGAACCACTTGCCTCATCCCTGTCTTTGGCAAGTGCACGGGTGGTGTGGAGGAAAGGATTCCATGGGTGTCCAAAGATCTCACACTGCTAACACCCTCACGCTCCTTCATCAACAGGAAGAGAGGAACAGGACCCTCTTTAACGAGGGCAAGGAGTGGCTTCCTCTGAGCTTGTTACTTTCAAATTAAGCACTTGACTCACTGTTTCTCTATAACTAACAGGCAATCTCTCTCTTTATGCCAACAATTAACTGGGAGCTAGGTTAAATTATTTGGCTAGATAAAACTACCAGCTAGATGGATTTATTTGGTGCCCTCATACAGAATGCTGTAGAAAATGTAAAGAAGAGAAAGCTCCTTCCAGCTAGAAGCACATGGGACTGCTTCTAGGATGGAAACAAGTCCTGCTATTTTCACAATCCCTAAGTGTTCTCCAGGCCTCTGGAGAACAAAGTAAAGTTGTAAGATCCCCAAAGACACGGAAAATCCTGGACGAACAGATTAGAAATAACTACAAAAAACAAGTTTTTACTTTCGAAAAGGGTACTGCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTACTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGC
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GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATGCAAAGAGGAGGAAGAGAAAGGAGGCAAAGTAGAATTCAGACAGGAAAGGGTGGTTCAAAGGGGAATATACTACAGGAAGAACAGAGAGGCGGCTCTCAAGGAGAGGGCCCCATGACAGCACAGCAATACACAAGCACACCTGACACAGGCTGGCACGCCTCCCCCCAAGGTGGGGCTGGTGGGTCTACATGACTTCTCTGCATCCTGAGGATCGGCCGGGCCCCAGGAAGAACCACTTGCCTCATCCCTGTCTTTGGCAAGTGCACGGGTGGTGTGGAGGAAAGGATTCCATGGGTGTCCAAAGATCTCACACTGCTAACACCCTCACGCTCCTTCATCAACAGGAAGAGAGGAACAGGACCCTCTTTAACGAGGGCAAGGAGTGGCTTCCTCTGAGCTTGTTACTTTCAAATTAAGCACTTGACTCACTGTTTCTCTATAACTAACAGGCAATCTCTCTCTTTATGCCAACAATTAACTGGGAGCTAGGTTAAATTATTTGGCTAGATAAAACTACCAGCTAGATGGATTTATTTGGTGCCCTCATACAGAATGCTGTAGAAAATGTAAAGAAGAGAAAGCTCCTTCCAGCTAGAAGCACATGGGACTGCTTCTAGGATGGAAACAAGTCCTGCTATTTTCACAATCCCTAAGTGTTCTCCAGGCCTCTGGAGAACAAAGTAAAGTTGTAAGATCCCCAAAGACACGGAAAATCCTGGACGAACAGATTAGAAATAACTACAAAAAACAAGTTTTTACTTTCGAAAAGGGTACTGCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTCCTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGC
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Task1_train_17059
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This variant impacts the gene TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Myasthenic syndrome, congenital, 25, presynaptic
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GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATGCAAAGAGGAGGAAGAGAAAGGAGGCAAAGTAGAATTCAGACAGGAAAGGGTGGTTCAAAGGGGAATATACTACAGGAAGAACAGAGAGGCGGCTCTCAAGGAGAGGGCCCCATGACAGCACAGCAATACACAAGCACACCTGACACAGGCTGGCACGCCTCCCCCCAAGGTGGGGCTGGTGGGTCTACATGACTTCTCTGCATCCTGAGGATCGGCCGGGCCCCAGGAAGAACCACTTGCCTCATCCCTGTCTTTGGCAAGTGCACGGGTGGTGTGGAGGAAAGGATTCCATGGGTGTCCAAAGATCTCACACTGCTAACACCCTCACGCTCCTTCATCAACAGGAAGAGAGGAACAGGACCCTCTTTAACGAGGGCAAGGAGTGGCTTCCTCTGAGCTTGTTACTTTCAAATTAAGCACTTGACTCACTGTTTCTCTATAACTAACAGGCAATCTCTCTCTTTATGCCAACAATTAACTGGGAGCTAGGTTAAATTATTTGGCTAGATAAAACTACCAGCTAGATGGATTTATTTGGTGCCCTCATACAGAATGCTGTAGAAAATGTAAAGAAGAGAAAGCTCCTTCCAGCTAGAAGCACATGGGACTGCTTCTAGGATGGAAACAAGTCCTGCTATTTTCACAATCCCTAAGTGTTCTCCAGGCCTCTGGAGAACAAAGTAAAGTTGTAAGATCCCCAAAGACACGGAAAATCCTGGACGAACAGATTAGAAATAACTACAAAAAACAAGTTTTTACTTTCGAAAAGGGTACTGCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTACTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGC
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GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATGCAAAGAGGAGGAAGAGAAAGGAGGCAAAGTAGAATTCAGACAGGAAAGGGTGGTTCAAAGGGGAATATACTACAGGAAGAACAGAGAGGCGGCTCTCAAGGAGAGGGCCCCATGACAGCACAGCAATACACAAGCACACCTGACACAGGCTGGCACGCCTCCCCCCAAGGTGGGGCTGGTGGGTCTACATGACTTCTCTGCATCCTGAGGATCGGCCGGGCCCCAGGAAGAACCACTTGCCTCATCCCTGTCTTTGGCAAGTGCACGGGTGGTGTGGAGGAAAGGATTCCATGGGTGTCCAAAGATCTCACACTGCTAACACCCTCACGCTCCTTCATCAACAGGAAGAGAGGAACAGGACCCTCTTTAACGAGGGCAAGGAGTGGCTTCCTCTGAGCTTGTTACTTTCAAATTAAGCACTTGACTCACTGTTTCTCTATAACTAACAGGCAATCTCTCTCTTTATGCCAACAATTAACTGGGAGCTAGGTTAAATTATTTGGCTAGATAAAACTACCAGCTAGATGGATTTATTTGGTGCCCTCATACAGAATGCTGTAGAAAATGTAAAGAAGAGAAAGCTCCTTCCAGCTAGAAGCACATGGGACTGCTTCTAGGATGGAAACAAGTCCTGCTATTTTCACAATCCCTAAGTGTTCTCCAGGCCTCTGGAGAACAAAGTAAAGTTGTAAGATCCCCAAAGACACGGAAAATCCTGGACGAACAGATTAGAAATAACTACAAAAAACAAGTTTTTACTTTCGAAAAGGGTACTGCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTCCTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGC
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Task1_train_17060
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A variant was discovered in gene TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Spastic paraplegia
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GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATGCAAAGAGGAGGAAGAGAAAGGAGGCAAAGTAGAATTCAGACAGGAAAGGGTGGTTCAAAGGGGAATATACTACAGGAAGAACAGAGAGGCGGCTCTCAAGGAGAGGGCCCCATGACAGCACAGCAATACACAAGCACACCTGACACAGGCTGGCACGCCTCCCCCCAAGGTGGGGCTGGTGGGTCTACATGACTTCTCTGCATCCTGAGGATCGGCCGGGCCCCAGGAAGAACCACTTGCCTCATCCCTGTCTTTGGCAAGTGCACGGGTGGTGTGGAGGAAAGGATTCCATGGGTGTCCAAAGATCTCACACTGCTAACACCCTCACGCTCCTTCATCAACAGGAAGAGAGGAACAGGACCCTCTTTAACGAGGGCAAGGAGTGGCTTCCTCTGAGCTTGTTACTTTCAAATTAAGCACTTGACTCACTGTTTCTCTATAACTAACAGGCAATCTCTCTCTTTATGCCAACAATTAACTGGGAGCTAGGTTAAATTATTTGGCTAGATAAAACTACCAGCTAGATGGATTTATTTGGTGCCCTCATACAGAATGCTGTAGAAAATGTAAAGAAGAGAAAGCTCCTTCCAGCTAGAAGCACATGGGACTGCTTCTAGGATGGAAACAAGTCCTGCTATTTTCACAATCCCTAAGTGTTCTCCAGGCCTCTGGAGAACAAAGTAAAGTTGTAAGATCCCCAAAGACACGGAAAATCCTGGACGAACAGATTAGAAATAACTACAAAAAACAAGTTTTTACTTTCGAAAAGGGTACTGCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTACTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGC
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GCCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATGCAAAGAGGAGGAAGAGAAAGGAGGCAAAGTAGAATTCAGACAGGAAAGGGTGGTTCAAAGGGGAATATACTACAGGAAGAACAGAGAGGCGGCTCTCAAGGAGAGGGCCCCATGACAGCACAGCAATACACAAGCACACCTGACACAGGCTGGCACGCCTCCCCCCAAGGTGGGGCTGGTGGGTCTACATGACTTCTCTGCATCCTGAGGATCGGCCGGGCCCCAGGAAGAACCACTTGCCTCATCCCTGTCTTTGGCAAGTGCACGGGTGGTGTGGAGGAAAGGATTCCATGGGTGTCCAAAGATCTCACACTGCTAACACCCTCACGCTCCTTCATCAACAGGAAGAGAGGAACAGGACCCTCTTTAACGAGGGCAAGGAGTGGCTTCCTCTGAGCTTGTTACTTTCAAATTAAGCACTTGACTCACTGTTTCTCTATAACTAACAGGCAATCTCTCTCTTTATGCCAACAATTAACTGGGAGCTAGGTTAAATTATTTGGCTAGATAAAACTACCAGCTAGATGGATTTATTTGGTGCCCTCATACAGAATGCTGTAGAAAATGTAAAGAAGAGAAAGCTCCTTCCAGCTAGAAGCACATGGGACTGCTTCTAGGATGGAAACAAGTCCTGCTATTTTCACAATCCCTAAGTGTTCTCCAGGCCTCTGGAGAACAAAGTAAAGTTGTAAGATCCCCAAAGACACGGAAAATCCTGGACGAACAGATTAGAAATAACTACAAAAAACAAGTTTTTACTTTCGAAAAGGGTACTGCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTTCTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGC
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Task1_train_17061
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A variant found in Chromosome 12 affects TAPBPL, VAMP1 (TAP binding protein like| vesicle associated membrane protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Spastic paraplegia
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GCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTACTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACACGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGCCCATCTTTCCGGTGCTATTCTGGTGATAGTGACGAAGTCTCATGAGATCTGATGGGTTTATCAGTGGTTTCTGCTTTTGCTTCTTCCACATTTTCTCTTGCTGCTGCCATGTAAGAAGTGCCTTTCACCTGCCGCCATGATTCTGAGGCCTTCCCAGCCATGTGGAACTGTAAGTCCAATTAAACCTCTTTTTCTTCCCAGTCTTGGGTATGTCTTTATCAGCAGCATGAAAACAGACTAATACAGTAAATTGGTACCAGTAGAGTGGGGTGTTGCTGAAAAGATACCCAAAAATGTGGAAGCGACTTTGGAACTGGGTTAACAGGGAGAGGATGGAACAGTTTGGAGGGCTCAGAAGAAGACAGGAAAATGCGGGAAAGTTTGGAACCTCCTAGAGACTTGTTGAATGGCTTTGACAAAAATGCTGTTAGTGATATGAACAATAAGGTCCAGGCTGAGGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGAAGCAAAGGTGACTCTTGTTATGTTTTGGCAAAAAGACTGGCAGCATTTTGCCCCTGCCCTAGAAATTTGTGGAACTTTGAACTTGAGAGAGATAATTTAGGGTATCTGGCAGAAGAAAAGACGCAGTACTAAAGAAAAAAACCATTTTTTTGAGAAGAAATTCAAGGCAGCTGCAGAAATTTGCATAAGTAGCAAGGAACCTAGTGTTAGCCCCTAAGACCATGGGGAAAATGTCTCCAGGCCATGTCAGAAGCCTTCATAGCAGCCCCTCCCATCACAGGCCTGGAGGCCCAGGAGGAAAAAGTTATTTTGTGGGCCAGGCCCAGGGTCCCCATGCTGTGTGCAGCCTAGGGACTTAGTGCCCTGTGTCCCAGCCGCTCCCACTGTGGCTGAGAGGGGCCAATGCAGGGCTCGGGCCGTGGCTTCAGAGGGTGGAAGCCCCAAGCCTTGGCAGCTTCCACATGGTGTTGAGCCTGCAGATGCACAGAAGGCAAGAACTGAGGTTCGGGAACCTCCGTCTAGACTTCAGAAGATGTATGGAAACGCCTGGATGTCCAGGCAAAAGTTTGCTGCAAGGGCAGGGCCCTCATGGAGAACC
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GCACTGAAACCAAGTTGGACTTTGGTCCACCCCCAGGACCCTCTTCAGGCCTGGTCCAGGAAGGAAAGCTCCACATGACCAGGCAGTACTGAGTGAGCTGCCATCTTCCCAGCCCCTCCCTAGCTCCTACCAGTGGCCAGGTTTTCTAGAAGTCACCATGGGCACCGATACTCTTCTCCTCCCAAGTCTGGGCAGCTTCATGGGTACTTCGCCTCAGCCACTCCCCTCCCTGCCCCTTCCCTTGGCCTCCAACTCTTTGGGGCTTTGGGGGAACTTGAGAGTACAGAAAAAGCAGGCAGGGAGGAGGCGCCAGCTGTTGCTCTTCGGGTAATGACTTAGATTGTGCCACGAGCAGCATTTCTAGTGTTGAGGGACAGAGTGCAAATGAACGCAACGAAAAAGGAGGAATGGGTGATGGAGAAGCCTGGGCTGGAATGGAGGACGGTGGGTGGGGAAGTGTGTTGAGAGAGCAAACAGAGGGCAGAGGACATGAATGTGGATGGCAATGGACAACAGGGAAGGGGTGGTACATTCTCAAGTAAAAAAGTAGACTGGACACAGGAATCAGGAAGTCCCAGACGGAAAAGAGAAAGAGACAGGAGAAAACAAGAGGGTGAATTACACCAAGTTACCAGACATTCAGGTCTCTCCATTGTTAAGTGCCCCATCCCCATGGTCTCCCTCCAACCCAAGCCAGTGACACACAGCATAGCCCCACTTCCTCAGAACAGGAGGCGCCATCTCCCTGCAATGCGTTGCAGGGGGAAGGCTTGTCCATCAAAGAAATCCCTTGTCTCTGCCCTTCCCCCGTCCCGAACCAGGTGACGATCCCATAGCAGCGGTCTCCATACCTCAGTCAGAGCAGCCCCACTCCCCAGGCAGGCAGGCAGGCAGGGAGAAGACTCCAGGACCTTCCCACCTCTTCACCCCACCAGCAACTTCAGCGATACTTACTTACAATAACTACCACGATGATGGCACAGATGGCTCCCAGCATGATCATCATCTGAGGAAACATGGACAAAAAATGAGCCCTTGGATTTCAGGAATGAGGAAAAGAGCCACATCTCTAGTGGGAAACAGAATTCCTTCCATCCTTGGGACAATGGAAAAAACCACCCATCACCCAGGAGACCTGCAGGCCTCTTAGAGAGGCCCTACCCTTCTGCTTCCCAGGGGATCATAACCACAGTATGTCTGTAGCTTTTCAGATTCATCACAGGACCTGCATTGAGCTCCTTTTTGCTTAGTTCCTGGTGTCTTGGGGCTTTAGAAGGCATTCCAATAGAGATACAGACTCTGGATATTTAACCAATTAGTTCAATTTTCACTGTGAAGTGTTCAGCTCATTCTCAAAAGTTGCAGTTATTTAAAAATATATATTTCAATCTGAGAAAGCTGATTTAAAAGAAAAAGAAAAAAGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATATATATAAATGTATATATATGTATATATACATATGTGTATATATAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATGCCTGAGCCATTGTGCTGATGTTGGGTGTGTCTGAGGATGAGACAGGTGAAATTTTTTGCAGGCAACTCCTTTGGGGTAAAGCTCCTTAACTAACCATTCCAAACTCCTCAGGGTATCACTTTTTCCCTGATAGCGGTTCTAAATACTCTAGCCTACCCTGGTGGCCAATTCTGGGTAATGCAATCTCAAGAGGAGGCTTTCCAGATTTCCTCCCAAGCGTTATGCTGGTCAGAGAGATCCTGCACCATTAGAGGGAAGAAATGTAGAAGCTGAGGGTTTTCTTGCCTTCTACCAGTGGAAGCCCAGGAAAAGATGGAGGAGGGGACAAGAAAATTCACCTTGCAGTTTTTCCACCAATACTTCCTCTTTAGCTTGGCAGCACTGCTCTCAAATTGTGATGCTCCTGCCTGCAAGGCATCAGCTCGGTCATCCAGCTCTGACAGCTTCTGGTCCCTCTCCAGGACCTTGTCCACGTTCACAGGTATGATGTCCACCACCTGAGGAGGGCACAGAAACAAAGCAGCTAAGCTTCCTGCCAGAGACAGAGGAAAGGACAACAACCAGAGAATCACAAGTCTGGCCCTGTGCAACTCTAAAGGGTGCTTTGCCTCTCAGGGCCTTTGACTATTCTCCTACGAAAAAAGGAGAAAAGATAAGAAGTTCCCTTTTGTTTCCAAACTCCTAGATTTGGAAACTTTCAGAGAAACAGCTATCTACCTACCTCCTCCACTTGTGCCTGGGTTTGCTGTAGTCGTCTGTTACTGGTCATGTTAGGAGGAGGGCCAGGGGGACCCCCACCTGGGGCAGTCCCTTCTGTCCCTTCAGCAGGTGGCTGAGCTGGAGCAGACCTGTGGAAAGACATGTGCAGAGTACACAAAGTGACCAAGACAAGAAAGGAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTACTCAAGAGGCTGAAGTGGGAGGAGCGCTTGAGCCCAGGAGTTCGAGGCCAGCCTGGGCATCATAGCGAGACCCCATCTCTAAAAAAACAGACAAAAAGAAAGGACTCACATGCATCCTCACCCCAAACCACTTAAACAATTATGATTAGGCTATACAAAACTAGAATGGATTCTTGCTCCTTGGCAATCTGAAGTAGGGAGACAAACCATAGAGGCAAGAAGTAAAAGATGAAAGACTCTGCAACAACATTTGGATGGGGTTCAGGGACATCCAGGATGGCATCAAGACATCTCATCTGGGGCTATCCTTTGACTCAACTCAAACAAGTCCTCTGCCATGATGGCTACAGGGACATATGGCCTAGCCTTGTCCTAAATGGCATTTCCCCGCTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCAACTTCAATTGTATCACCCAGAATTCCCACATGTTGTGGGAGGGACTCAGGGGAGGTAACTGAATCATGGGGCCCATCTTTCCGGTGCTATTCTGGTGATAGTGACGAAGTCTCATGAGATCTGATGGGTTTATCAGTGGTTTCTGCTTTTGCTTCTTCCACATTTTCTCTTGCTGCTGCCATGTAAGAAGTGCCTTTCACCTGCCGCCATGATTCTGAGGCCTTCCCAGCCATGTGGAACTGTAAGTCCAATTAAACCTCTTTTTCTTCCCAGTCTTGGGTATGTCTTTATCAGCAGCATGAAAACAGACTAATACAGTAAATTGGTACCAGTAGAGTGGGGTGTTGCTGAAAAGATACCCAAAAATGTGGAAGCGACTTTGGAACTGGGTTAACAGGGAGAGGATGGAACAGTTTGGAGGGCTCAGAAGAAGACAGGAAAATGCGGGAAAGTTTGGAACCTCCTAGAGACTTGTTGAATGGCTTTGACAAAAATGCTGTTAGTGATATGAACAATAAGGTCCAGGCTGAGGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGAAGCAAAGGTGACTCTTGTTATGTTTTGGCAAAAAGACTGGCAGCATTTTGCCCCTGCCCTAGAAATTTGTGGAACTTTGAACTTGAGAGAGATAATTTAGGGTATCTGGCAGAAGAAAAGACGCAGTACTAAAGAAAAAAACCATTTTTTTGAGAAGAAATTCAAGGCAGCTGCAGAAATTTGCATAAGTAGCAAGGAACCTAGTGTTAGCCCCTAAGACCATGGGGAAAATGTCTCCAGGCCATGTCAGAAGCCTTCATAGCAGCCCCTCCCATCACAGGCCTGGAGGCCCAGGAGGAAAAAGTTATTTTGTGGGCCAGGCCCAGGGTCCCCATGCTGTGTGCAGCCTAGGGACTTAGTGCCCTGTGTCCCAGCCGCTCCCACTGTGGCTGAGAGGGGCCAATGCAGGGCTCGGGCCGTGGCTTCAGAGGGTGGAAGCCCCAAGCCTTGGCAGCTTCCACATGGTGTTGAGCCTGCAGATGCACAGAAGGCAAGAACTGAGGTTCGGGAACCTCCGTCTAGACTTCAGAAGATGTATGGAAACGCCTGGATGTCCAGGCAAAAGTTTGCTGCAAGGGCAGGGCCCTCATGGAGAACC
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Task1_train_17062
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Given this variant in gene CHD4 (chromodomain helicase DNA binding protein 4) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Sifrim-Hitz-Weiss syndrome
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CAAAAACAAAACAGATGAAGCAGACAGGCCAGCAACTAAAAGGAAGACTGGACTTACACATTTGTCTTTAGTATGGCATTCAGTCACCCCATCTCTTACCTCAATGGCAGTCTCAGGGGCTGTAGATTTAACCTCCTTTTCTCCTTCTATGCTCTCTTCTTCTTTGAGGCTATTTTCCTCTATTTTTATCCCATCTTCTGCAGAACAATAAAAGACAATCAATTAGGAAGAAGGTACTAGATCAGAGAGAAGGTCATTTCTTCCCAGTTTGTCTCATCTTAAATTGTCCTCTCGTGCCTTTAAGAGCCAGCCCTATTCTTAGGACGGCCCTCCTAAACTGAGAGGGAATTGCTGTGTGTCCTGCCAGACTACCCTGTTAGAACTGAGCACAGGGGAGCAGAAAAATAGGCCAGGACAAAAAGAGAGGGACAGAAAATGATAGGACAGGCAGACTTACCAGCAGGTGGGACAGGTGCAGGAGTGTTGGGCTGCGTGTCCCCTGGAGTGGAGGGTGTAGGAGTTTTTGGGGAGGGTGACCCTGGCTGGGACATCTTCTTGTTTTCCTCCACCTCAGCCAGTTCAGGCATGCTCCAGCGCCCATTAACATGTTCAAACTCCTGAACCTGTAGCAATGGGACAAGAAGTTGAAGACCCAATTCCAGCTACAGGCTCCTTTCCTATTGGCCTTCCAGTCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGAATACAGGTGCCCGCCACCACGTGCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGACCAGGCTAGTCTCTAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCCTAGAAACAATGGCAAGAGGCTCAGGGCTCACCTTCTTGCGAATCAAAGACATAACACCAATTCTAGTAAGGACATGCTGGCGAGACAGGCCTTCTCGGGGGACACCATCAGCAAAGGTCTCAGCCCCATCTGCCCCCGGCTCACATAAATGCCGCATGAAAAGAGAGACATATGCCCTGTGTAAAGAAGTAGAGAAAGAGTTAAATAGGGATCATGCTGACTCTTAGATTCTTTTCCATCCCTTCGTGAGGCATTATCACAGGCAATAACTATGGCTCCACCTTGAGGTAAAGCCCACCACTGCACGGGAAGGCTGATCTCTAGACCCCACAAGAAGACCCAGGTTCTCTTCCAGGGAAGCTAGGAACACATTACTAACAGCTTCACCTGCCAACTTCAACAGAGAAAATAGCCCACTTCCCTGCACGGCTAGGCCTAGAACCATGGAATGACCAGATAGATAGCAGAAGCCCTTGCTCTAGATCAGTCCACTCCAGCCCTCAACTCACTTGAACTCTTTCTCTGATTTGCCTCGCAGGTCTCTTACAAGCCACTGGGTAGTAAAAGCATCCTGAGGTGGCATACCATATCGCATAATTGCATTAAGAAAGGCTTTTCGCTGACGAGCATTAAAACCAAGTACCTAGGGGAAGAAGAAACCCAGGTGAGAGGCAGCAGGTCGCATTCCACCAAAGATGCAATATCTGACACTCACCCCTCCTTAGAATCGTATGGCACTTACTTCAATATTCCCACCAACACGGGCCAACAGAGGAGGCAATGGCTTATCTTTATCATTCCGCAGGCCCTTACGACTGGGCCTACGGGGAGCTGCAAGAAGAAAAAGATGAATGAGTGACACAGGTAGGATATTAAACAAAGCAACATTTAGAAAAGCAACAAAAAAAGCACAGCCCTCACCTTCTGAACGTTCATCAAAGTCTTCATCACCTTCCTCTGAAGCCACTGAGTAATCGGACTGGTTGTCGGACTGGTCGTCCTGCCAATCTGGAGGGAGAGAGGGCAGATGAGCGGGGCCCACTGCTCTAGTGGAACGGCCCATGGGTGGGGGGCGGGGCCGGCCACACACACCTCGGTCCTCCTGGGAGCCATCATTGTAGTTGACCTGTTTACGGATTCTTTTTCCTTTGCCCAGATTTCGGGCTAGATCTTCTTGCTGCTGCTCATAATGGTGCCGCAGCAATTTCTCCCAGTAGTCAGGATCCACACTTTCTTCCTGTTTAATGATTTCCCGTTCTACCTCCTCTTCCTCCTGGGACAGAGGGAGGGCCAGGACTCAGGAGTGCTGAAGTCAGCACCACCAGCTACCCCTGGTCCTCACAGTTCCCACTCTGCTAGCTCCTTTTCATGACTGGACTCTTAAATACTTGGTGTGCCTGTTTGGACCTAAGAACTTAGAAGAAATTTGATTGAGAGTACACAGCTCCTCATAATTACATATAGATTAGCAGTCAGCATAACTCAAGAAAAACATGGGATAGAGCTATTATCACAGGTAAGGATGAAGAGACAGAATGCTTTCTTCTAACCCCTTGCACTGATGCATATACAATTGAAAGATAGCAAAAAGAAAAGAGGTCAGAGCCTTAGCAAGGCAGAATGGAGAAACTTCTGAAGTACTGTAAAAGATTTTCATAAGAGAGAAGGAAGGAGAGGATGACTATAAGCCTTTCTATTCTTCATAAACTTCATAAAAGCTTACCAACTGTCTGCAGAACGAAAAGAATTCTATATAGCCTCTTATGTCCCAAAAACGTTGATACTCCTCTAAAAGTGAATTTTTTTCAGACACTTGAGGACCACTCACTGATTCCACATCCCTTATATTGGAATTAAACAGCTGCTAATAGCATAACATTAGAAACAACCTAAAAGCCCATCATTATGGAACTAATTAAATAAATTACAATCGGCCCTCTGTATCCACGGGTTCCGCACCTGTGGATTCAAACAACCATAGATGGAAAATATTCAGAGAAAAAACAAAATTATGTCTGTACTCAACATTTACAGACTTTTTTCTTGTCATTATTCCCTAACCAATGTAGCATTTACATTGCATTGGTATTACTTTTATGTTTACAAGGAAAAAAAAGTCTTTGGGTACATATATGTGAGTGTACATATATGTGTATGAATATATGTATAATTTGTATACACATAAAATATTTTTGGAAAGATATAAAAGGAACTGAAAACATTAGTTGTCCCCAAGAAGGGAACTAAATTGTTAGAGGACAGGAGAGAAAAGAGATACGTGTGTGTACATATAAATATATATATATTTTTTTGAGAGAGGGTCTAGCTGTGTTGCCCAGGCTGGAGTAGAGTGGCGTCATTACGGCTCACTGCAGCCTCGACTGCCAAGTTTAAGCAATCCTCCCACGCAGCTGGGACCACAAGCGTGAGCAACCACACTCGGCTAATGTTTTTATTATTTAGAGACGGAATTTTACCATGTTGCCCAAGTTGGTCTCCAACTCCTGGGCTCAAACGACCCTCCTGCCTCAGCCTCCCAAAGTACTGGGATTCTAGGCATGAGCCACCGTGTCTGGCCCTTTTGTGTATTTTGAACTATGTAAATTCTATCTATTAAAAATAAAACTTAAAAATATTTTAAAAGAAGTCAACAGCAGCTATAGTCACTAATCAAAGAACAATTTGTATACTTATGTAGTCACCAGCAAGGATGATCCACTTAGCATGTGCTCTCCCATCAATCACTTCTATTACATTCACTGCCACTGAAAGGAATGTGAGCATTCTATCAATAGGGTCGTTTCTGATTGAACACTACGGTACACAGACCTATGTCAGACCATTCAGCCACACTTACATATAAACTGAGGTTGGACGCATTACCTTCGAGAACAAAATCACAGGTAAGCATCAGGGAAACACAGCAAGGGGGATGGTTCTGAGGTGGAAGAATGAGAAAAGATGACAAAGACCACCAGAACCAATGCCAACTGAAAGAACCCGGAGCTGAGTGGTTTACAGAGGACAAGAAAAAGGAAATTTTATTTTTCCATTTCATACCCCTCTATATCATTTAGGAGAGAAAAACATTAAAACAAGCCACACACACATTCCTCACATACTATTTTTTTTACTATAAAAGACCAAGAAAAAGAAGGGAGGAGAATAAAAAGGTATATACC
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CAAAAACAAAACAGATGAAGCAGACAGGCCAGCAACTAAAAGGAAGACTGGACTTACACATTTGTCTTTAGTATGGCATTCAGTCACCCCATCTCTTACCTCAATGGCAGTCTCAGGGGCTGTAGATTTAACCTCCTTTTCTCCTTCTATGCTCTCTTCTTCTTTGAGGCTATTTTCCTCTATTTTTATCCCATCTTCTGCAGAACAATAAAAGACAATCAATTAGGAAGAAGGTACTAGATCAGAGAGAAGGTCATTTCTTCCCAGTTTGTCTCATCTTAAATTGTCCTCTCGTGCCTTTAAGAGCCAGCCCTATTCTTAGGACGGCCCTCCTAAACTGAGAGGGAATTGCTGTGTGTCCTGCCAGACTACCCTGTTAGAACTGAGCACAGGGGAGCAGAAAAATAGGCCAGGACAAAAAGAGAGGGACAGAAAATGATAGGACAGGCAGACTTACCAGCAGGTGGGACAGGTGCAGGAGTGTTGGGCTGCGTGTCCCCTGGAGTGGAGGGTGTAGGAGTTTTTGGGGAGGGTGACCCTGGCTGGGACATCTTCTTGTTTTCCTCCACCTCAGCCAGTTCAGGCATGCTCCAGCGCCCATTAACATGTTCAAACTCCTGAACCTGTAGCAATGGGACAAGAAGTTGAAGACCCAATTCCAGCTACAGGCTCCTTTCCTATTGGCCTTCCAGTCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGAATACAGGTGCCCGCCACCACGTGCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGACCAGGCTAGTCTCTAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCCTAGAAACAATGGCAAGAGGCTCAGGGCTCACCTTCTTGCGAATCAAAGACATAACACCAATTCTAGTAAGGACATGCTGGCGAGACAGGCCTTCTCGGGGGACACCATCAGCAAAGGTCTCAGCCCCATCTGCCCCCGGCTCACATAAATGCCGCATGAAAAGAGAGACATATGCCCTGTGTAAAGAAGTAGAGAAAGAGTTAAATAGGGATCATGCTGACTCTTAGATTCTTTTCCATCCCTTCGTGAGGCATTATCACAGGCAATAACTATGGCTCCACCTTGAGGTAAAGCCCACCACTGCACGGGAAGGCTGATCTCTAGACCCCACAAGAAGACCCAGGTTCTCTTCCAGGGAAGCTAGGAACACATTACTAACAGCTTCACCTGCCAACTTCAACAGAGAAAATAGCCCACTTCCCTGCACGGCTAGGCCTAGAACCATGGAATGACCAGATAGATAGCAGAAGCCCTTGCTCTAGATCAGTCCACTCCAGCCCTCAACTCACTTGAACTCTTTCTCTGATTTGCCTCGCAGGTCTCTTACAAGCCACTGGGTAGTAAAAGCATCCTGAGGTGGCATACCATATCGCATAATTGCATTAAGAAAGGCTTTTCGCTGACGAGCATTAAAACCAAGTACCTAGGGGAAGAAGAAACCCAGGTGAGAGGCAGCAGGTCGCATTCCACCAAAGATGCAATATCTGACACTCACCCCTCCTTAGAATCGTATGGCACTTACTTCAATATTCCCACCAACACGGGCCAACAGAGGAGGCAATGGCTTATCTTTATCATTCCGCAGGCCCTTACGACTGGGCCTACGGGGAGCTGCAAGAAGAAAAAGATGAATGAGTGACACAGGTAGGATATTAAACAAAGCAACATTTAGAAAAGCAACAAAAAAAGCACAGCCCTCACCTTCTGAACGTTCATCAAAGTCTTCATCACCTTCCTCTGAAGCCACTGAGTAATCGGACTGGTTGTCGGACTGGTCGTCCTGCCAATCTGGAGGGAGAGAGGGCAGATGAGCGGGGCCCACTGCTCTAGTGGAACGGCCCATGGGTGGGGGGCGGGGCCGGCCACACACACCTCGGTCCTCCTGGGAGCCATCATTGTAGTTGACCTGTTTACAGATTCTTTTTCCTTTGCCCAGATTTCGGGCTAGATCTTCTTGCTGCTGCTCATAATGGTGCCGCAGCAATTTCTCCCAGTAGTCAGGATCCACACTTTCTTCCTGTTTAATGATTTCCCGTTCTACCTCCTCTTCCTCCTGGGACAGAGGGAGGGCCAGGACTCAGGAGTGCTGAAGTCAGCACCACCAGCTACCCCTGGTCCTCACAGTTCCCACTCTGCTAGCTCCTTTTCATGACTGGACTCTTAAATACTTGGTGTGCCTGTTTGGACCTAAGAACTTAGAAGAAATTTGATTGAGAGTACACAGCTCCTCATAATTACATATAGATTAGCAGTCAGCATAACTCAAGAAAAACATGGGATAGAGCTATTATCACAGGTAAGGATGAAGAGACAGAATGCTTTCTTCTAACCCCTTGCACTGATGCATATACAATTGAAAGATAGCAAAAAGAAAAGAGGTCAGAGCCTTAGCAAGGCAGAATGGAGAAACTTCTGAAGTACTGTAAAAGATTTTCATAAGAGAGAAGGAAGGAGAGGATGACTATAAGCCTTTCTATTCTTCATAAACTTCATAAAAGCTTACCAACTGTCTGCAGAACGAAAAGAATTCTATATAGCCTCTTATGTCCCAAAAACGTTGATACTCCTCTAAAAGTGAATTTTTTTCAGACACTTGAGGACCACTCACTGATTCCACATCCCTTATATTGGAATTAAACAGCTGCTAATAGCATAACATTAGAAACAACCTAAAAGCCCATCATTATGGAACTAATTAAATAAATTACAATCGGCCCTCTGTATCCACGGGTTCCGCACCTGTGGATTCAAACAACCATAGATGGAAAATATTCAGAGAAAAAACAAAATTATGTCTGTACTCAACATTTACAGACTTTTTTCTTGTCATTATTCCCTAACCAATGTAGCATTTACATTGCATTGGTATTACTTTTATGTTTACAAGGAAAAAAAAGTCTTTGGGTACATATATGTGAGTGTACATATATGTGTATGAATATATGTATAATTTGTATACACATAAAATATTTTTGGAAAGATATAAAAGGAACTGAAAACATTAGTTGTCCCCAAGAAGGGAACTAAATTGTTAGAGGACAGGAGAGAAAAGAGATACGTGTGTGTACATATAAATATATATATATTTTTTTGAGAGAGGGTCTAGCTGTGTTGCCCAGGCTGGAGTAGAGTGGCGTCATTACGGCTCACTGCAGCCTCGACTGCCAAGTTTAAGCAATCCTCCCACGCAGCTGGGACCACAAGCGTGAGCAACCACACTCGGCTAATGTTTTTATTATTTAGAGACGGAATTTTACCATGTTGCCCAAGTTGGTCTCCAACTCCTGGGCTCAAACGACCCTCCTGCCTCAGCCTCCCAAAGTACTGGGATTCTAGGCATGAGCCACCGTGTCTGGCCCTTTTGTGTATTTTGAACTATGTAAATTCTATCTATTAAAAATAAAACTTAAAAATATTTTAAAAGAAGTCAACAGCAGCTATAGTCACTAATCAAAGAACAATTTGTATACTTATGTAGTCACCAGCAAGGATGATCCACTTAGCATGTGCTCTCCCATCAATCACTTCTATTACATTCACTGCCACTGAAAGGAATGTGAGCATTCTATCAATAGGGTCGTTTCTGATTGAACACTACGGTACACAGACCTATGTCAGACCATTCAGCCACACTTACATATAAACTGAGGTTGGACGCATTACCTTCGAGAACAAAATCACAGGTAAGCATCAGGGAAACACAGCAAGGGGGATGGTTCTGAGGTGGAAGAATGAGAAAAGATGACAAAGACCACCAGAACCAATGCCAACTGAAAGAACCCGGAGCTGAGTGGTTTACAGAGGACAAGAAAAAGGAAATTTTATTTTTCCATTTCATACCCCTCTATATCATTTAGGAGAGAAAAACATTAAAACAAGCCACACACACATTCCTCACATACTATTTTTTTTACTATAAAAGACCAAGAAAAAGAAGGGAGGAGAATAAAAAGGTATATACC
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Task1_train_17063
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This gene mutation involves CHD4 (chromodomain helicase DNA binding protein 4) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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CCTGTAATCCCACCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGAGTATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTATAAAAAAATTAGCCGGGCATGGTGGTGCATACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAAGTGGAGGTTGCAGTAGGCTGTGATCGCACCACTGAACTCCAGCCTGGGCAACAGAGCAAGACTCCGTATCAAAAAAAAAATATATAAGGCCAGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGAGGCAGGCACCTGTAGTCCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCTCTTTTTTTGTTGTTTTTTTTTTTCAAACACAGTCTGGCTCTGTCATCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAACACCTGGGACTACAGGTGTGCTTCATCGTGCCTGGCTAATTTTTTTATTTTTAGTAGAAACGGGGTTTCACCGTGTTGGCCGGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGTAGAGACCCTGTCTCTTAAATAAAAACCAGAAAACACAAAGAGATAGATTACCTAGGATCTTCTGCCTTTTCTCTAGAGAGATGAGGTAGCATTCAAAATTTCATTTGTAAGGTTTAATAAAACACATAGGAGAAAATGACATTCTGGTAAAGAGCCAAAATAACTGTTGTGAGCATGATATTTGGTTGTAAGTTTTCTGACAACCAAGGCAAAGATGAAAATCTGATTAGTCATGTTATCAGCTTTGTTTTCAAAGGAAGAGGATCAATTCATCAACATAAGAATTTGCCTACAGATATTTTCCACTTGTCTCAAATACCACCTTGGTCTCAATGCCAATTTTCAGACCAATTACCAAGCACAGGATTGCCTTGGATTCATACTCACCCCCATTTCTTCTTCCCGTACCACATACTGGGCCACTTTGAATGAGCTCAAATATTCATTCATGCCCTGCAATTCTGTGTCTTCAGTCTCATCCTGGTTACGGTCTAGCAGCCGTTCAATGGCCTTATCATCGTAGTGGATAACACTGCTATCTTCTCCCTCTTTGTTGTCTCCTCCTATAAAAAATCAAGGGCCCACATCCCCAAAGTCAGTTTCAGCAGCTGCAGTGGAAAAAGCAAGTCCCACAAGACCCTTGGTATCAAAGATTCTCCCTAACCTTTAGAGAGGCCAAGCCCCACACCAAAACGTAAGTTCCTGACTACCTCACCTCCATCAGTGGCTTCATCCTTGAATAGTTCCTCAGTGCCAAATTTGAGGATATCATCAAGCTCCTGTTTGGACATAGATCCAGTCTTGGAGCCCAGCCCAGGCCGCACCACTAGATGCGTCAGCATCATTTTCTTCTTTGCCACCTGCGTGATGCGCTCCTCCACTGACGCACGGGTCACAAACCGGTAGATCATTACCTTTTTATTTTGCCCAATCCGGTGAGCTCTGCTAAAGGCCTGGAGTTGAACAGGAAATAAAGCCAGAAATTGTATTTTCCTGGTGCCACTCTTATCCTGACTTCCACATAATATTCTAAATTCAGTACAAGGCAAGGTCCACAGCCTACATTCATAGGAAACTTCCTTTTGCACCCCTGCCTCCAGACACCACCCTCTATTATCATGTTACCCAAAATAGGATCACAGCTAACCAAACTCTGGCTTACAATAAGGTAAACAACACAAAAAGAATCTGTTGTTTCTCACTTAAAAACCTAATTCCAGATGGTGGAGCCCTCATAGAGGCCACTATGCCTTTCTAGCATAACATGTTACTTATTAAGGCTGCCTGCTGCCTCTGCTCACCTGAATGTCATTATGGGGGTTCCAGTCAGAGTCATAGATAATAACTGTGTCAGCAGTGGCCAGATTGATTCCAAGGCCCCCAGCTCGAGTGGAAAGCAAGAAGCAGAACTGCTGAGCACCCGGTGCTAATAAAAGAACCAAAAACACCATTAGAAGTGTCTCCTAAATTCCAATTCATAAATGTAGTTTAAAAAATTAAGCCGGGGGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCAGAGACAGGTGGATCATTTGACATCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCGCTTGAACCTGGTAGGCAGAGGTTGCAGTGAGCAGAGATTGCACCACTGCACTTTAGCCTGGGCAACAGAGCAAGAAACTCCATCTCAAAAAAAAAAAAAAATTTAGCTGGGAATGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAAGAGTTCAAGGTTATAATGAGCTCTGACTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTAACTCTTATAGAAAAATGTCAGAATAGGCCAGGTGCAGTGACTCACACCTGTAACCCCAACACTTTGCGAGGCTGAGGTGGGCAGATCACCTGTGGTCAGGAGTTCGAGACTAAGCTGGCCAACGTGGTGAAACCCTGCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATAGCTTGAACCCGGGAGGCAGAAGTAAAAAAGAAAGAATGTCAGAATATAAAACCTCATTAGGCAAACACCACAGTAATAATCATTGTAATCAAGGTCCACTGACGAATACTAATATCGGTGTGAAAGTTTAAGGAGAAACAGGACACTGACATAGTCTCAAATATCTCCCTCAAGCTATTTATCAATCACAATGGGAACAATAGAAACTTTACACTGCAGAAACTCAGCAGGCACCACCTTAACCAGTGATCAAGTCATTACCAGTAAGGGGACATATGAACATCATGTCCGTCCCCCAGTATGATGAACTGAAAAGGACACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGC
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CCTGTAATCCCACCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGAGTATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTATAAAAAAATTAGCCGGGCATGGTGGTGCATACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAAGTGGAGGTTGCAGTAGGCTGTGATCGCACCACTGAACTCCAGCCTGGGCAACAGAGCAAGACTCCGTATCAAAAAAAAAATATATAAGGCCAGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGAGGCAGGCACCTGTAGTCCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCTCTTTTTTTGTTGTTTTTTTTTTTCAAACACAGTCTGGCTCTGTCATCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAACACCTGGGACTACAGGTGTGCTTCATCGTGCCTGGCTAATTTTTTTATTTTTAGTAGAAACGGGGTTTCACCGTGTTGGCCGGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGTAGAGACCCTGTCTCTTAAATAAAAACCAGAAAACACAAAGAGATAGATTACCTAGGATCTTCTGCCTTTTCTCTAGAGAGATGAGGTAGCATTCAAAATTTCATTTGTAAGGTTTAATAAAACACATAGGAGAAAATGACATTCTGGTAAAGAGCCAAAATAACTGTTGTGAGCATGATATTTGGTTGTAAGTTTTCTGACAACCAAGGCAAAGATGAAAATCTGATTAGTCATGTTATCAGCTTTGTTTTCAAAGGAAGAGGATCAATTCATCAACATAAGAATTTGCCTACAGATATTTTCCACTTGTCTCAAATACCACCTTGGTCTCAATGCCAATTTTCAGACCAATTACCAAGCACAGGATTGCCTTGGATTCATACTCACCCCCATTTCTTCTTCCCGTACCACATACTGGGCCACTTTGAATGAGCTCAAATATTCATTCATGCCCTGCAATTCTGTGTCTTCAGTCTCATCCTGGTTACGGTCTAGCAGCCGTTCAATGGCCTTATCATCGTAGTGGATAACACTGCTATCTTCTCCCTCTTTGTTGTCTCCTCCTATAAAAAATCAAGGGCCCACATCCCCAAAGTCAGTTTCAGCAGCTGCAGTGGAAAAAGCAAGTCCCACAAGACCCTTGGTATCAAAGATTCTCCCTAACCTTTAGAGAGGCCAAGCCCCACACCAAAACGTAAGTTCCTGACTACCTCACCTCCATCAGTGGCTTCATCCTTGAATAGTTCCTCAGTGCCAAATTTGAGGATATCATCAAGCTCCTGTTTGGACATAGATCCAGTCTTGGAGCCCAGCCCAGGCCGCACCACTAGATGCGTCAGCATCATTTTCTTCTTTGCCACCTGCGTGATGCGCTCCTCCACTGACGCATGGGTCACAAACCGGTAGATCATTACCTTTTTATTTTGCCCAATCCGGTGAGCTCTGCTAAAGGCCTGGAGTTGAACAGGAAATAAAGCCAGAAATTGTATTTTCCTGGTGCCACTCTTATCCTGACTTCCACATAATATTCTAAATTCAGTACAAGGCAAGGTCCACAGCCTACATTCATAGGAAACTTCCTTTTGCACCCCTGCCTCCAGACACCACCCTCTATTATCATGTTACCCAAAATAGGATCACAGCTAACCAAACTCTGGCTTACAATAAGGTAAACAACACAAAAAGAATCTGTTGTTTCTCACTTAAAAACCTAATTCCAGATGGTGGAGCCCTCATAGAGGCCACTATGCCTTTCTAGCATAACATGTTACTTATTAAGGCTGCCTGCTGCCTCTGCTCACCTGAATGTCATTATGGGGGTTCCAGTCAGAGTCATAGATAATAACTGTGTCAGCAGTGGCCAGATTGATTCCAAGGCCCCCAGCTCGAGTGGAAAGCAAGAAGCAGAACTGCTGAGCACCCGGTGCTAATAAAAGAACCAAAAACACCATTAGAAGTGTCTCCTAAATTCCAATTCATAAATGTAGTTTAAAAAATTAAGCCGGGGGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCAGAGACAGGTGGATCATTTGACATCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCGCTTGAACCTGGTAGGCAGAGGTTGCAGTGAGCAGAGATTGCACCACTGCACTTTAGCCTGGGCAACAGAGCAAGAAACTCCATCTCAAAAAAAAAAAAAAATTTAGCTGGGAATGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAAGAGTTCAAGGTTATAATGAGCTCTGACTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTAACTCTTATAGAAAAATGTCAGAATAGGCCAGGTGCAGTGACTCACACCTGTAACCCCAACACTTTGCGAGGCTGAGGTGGGCAGATCACCTGTGGTCAGGAGTTCGAGACTAAGCTGGCCAACGTGGTGAAACCCTGCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATAGCTTGAACCCGGGAGGCAGAAGTAAAAAAGAAAGAATGTCAGAATATAAAACCTCATTAGGCAAACACCACAGTAATAATCATTGTAATCAAGGTCCACTGACGAATACTAATATCGGTGTGAAAGTTTAAGGAGAAACAGGACACTGACATAGTCTCAAATATCTCCCTCAAGCTATTTATCAATCACAATGGGAACAATAGAAACTTTACACTGCAGAAACTCAGCAGGCACCACCTTAACCAGTGATCAAGTCATTACCAGTAAGGGGACATATGAACATCATGTCCGTCCCCCAGTATGATGAACTGAAAAGGACACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGC
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Task1_train_17064
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A variant has been detected on Chromosome 12 in CHD4 (chromodomain helicase DNA binding protein 4). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Sifrim-Hitz-Weiss syndrome
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CCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGAGTATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTATAAAAAAATTAGCCGGGCATGGTGGTGCATACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAAGTGGAGGTTGCAGTAGGCTGTGATCGCACCACTGAACTCCAGCCTGGGCAACAGAGCAAGACTCCGTATCAAAAAAAAAATATATAAGGCCAGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGAGGCAGGCACCTGTAGTCCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCTCTTTTTTTGTTGTTTTTTTTTTTCAAACACAGTCTGGCTCTGTCATCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAACACCTGGGACTACAGGTGTGCTTCATCGTGCCTGGCTAATTTTTTTATTTTTAGTAGAAACGGGGTTTCACCGTGTTGGCCGGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGTAGAGACCCTGTCTCTTAAATAAAAACCAGAAAACACAAAGAGATAGATTACCTAGGATCTTCTGCCTTTTCTCTAGAGAGATGAGGTAGCATTCAAAATTTCATTTGTAAGGTTTAATAAAACACATAGGAGAAAATGACATTCTGGTAAAGAGCCAAAATAACTGTTGTGAGCATGATATTTGGTTGTAAGTTTTCTGACAACCAAGGCAAAGATGAAAATCTGATTAGTCATGTTATCAGCTTTGTTTTCAAAGGAAGAGGATCAATTCATCAACATAAGAATTTGCCTACAGATATTTTCCACTTGTCTCAAATACCACCTTGGTCTCAATGCCAATTTTCAGACCAATTACCAAGCACAGGATTGCCTTGGATTCATACTCACCCCCATTTCTTCTTCCCGTACCACATACTGGGCCACTTTGAATGAGCTCAAATATTCATTCATGCCCTGCAATTCTGTGTCTTCAGTCTCATCCTGGTTACGGTCTAGCAGCCGTTCAATGGCCTTATCATCGTAGTGGATAACACTGCTATCTTCTCCCTCTTTGTTGTCTCCTCCTATAAAAAATCAAGGGCCCACATCCCCAAAGTCAGTTTCAGCAGCTGCAGTGGAAAAAGCAAGTCCCACAAGACCCTTGGTATCAAAGATTCTCCCTAACCTTTAGAGAGGCCAAGCCCCACACCAAAACGTAAGTTCCTGACTACCTCACCTCCATCAGTGGCTTCATCCTTGAATAGTTCCTCAGTGCCAAATTTGAGGATATCATCAAGCTCCTGTTTGGACATAGATCCAGTCTTGGAGCCCAGCCCAGGCCGCACCACTAGATGCGTCAGCATCATTTTCTTCTTTGCCACCTGCGTGATGCGCTCCTCCACTGACGCACGGGTCACAAACCGGTAGATCATTACCTTTTTATTTTGCCCAATCCGGTGAGCTCTGCTAAAGGCCTGGAGTTGAACAGGAAATAAAGCCAGAAATTGTATTTTCCTGGTGCCACTCTTATCCTGACTTCCACATAATATTCTAAATTCAGTACAAGGCAAGGTCCACAGCCTACATTCATAGGAAACTTCCTTTTGCACCCCTGCCTCCAGACACCACCCTCTATTATCATGTTACCCAAAATAGGATCACAGCTAACCAAACTCTGGCTTACAATAAGGTAAACAACACAAAAAGAATCTGTTGTTTCTCACTTAAAAACCTAATTCCAGATGGTGGAGCCCTCATAGAGGCCACTATGCCTTTCTAGCATAACATGTTACTTATTAAGGCTGCCTGCTGCCTCTGCTCACCTGAATGTCATTATGGGGGTTCCAGTCAGAGTCATAGATAATAACTGTGTCAGCAGTGGCCAGATTGATTCCAAGGCCCCCAGCTCGAGTGGAAAGCAAGAAGCAGAACTGCTGAGCACCCGGTGCTAATAAAAGAACCAAAAACACCATTAGAAGTGTCTCCTAAATTCCAATTCATAAATGTAGTTTAAAAAATTAAGCCGGGGGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCAGAGACAGGTGGATCATTTGACATCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCGCTTGAACCTGGTAGGCAGAGGTTGCAGTGAGCAGAGATTGCACCACTGCACTTTAGCCTGGGCAACAGAGCAAGAAACTCCATCTCAAAAAAAAAAAAAAATTTAGCTGGGAATGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAAGAGTTCAAGGTTATAATGAGCTCTGACTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTAACTCTTATAGAAAAATGTCAGAATAGGCCAGGTGCAGTGACTCACACCTGTAACCCCAACACTTTGCGAGGCTGAGGTGGGCAGATCACCTGTGGTCAGGAGTTCGAGACTAAGCTGGCCAACGTGGTGAAACCCTGCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATAGCTTGAACCCGGGAGGCAGAAGTAAAAAAGAAAGAATGTCAGAATATAAAACCTCATTAGGCAAACACCACAGTAATAATCATTGTAATCAAGGTCCACTGACGAATACTAATATCGGTGTGAAAGTTTAAGGAGAAACAGGACACTGACATAGTCTCAAATATCTCCCTCAAGCTATTTATCAATCACAATGGGAACAATAGAAACTTTACACTGCAGAAACTCAGCAGGCACCACCTTAACCAGTGATCAAGTCATTACCAGTAAGGGGACATATGAACATCATGTCCGTCCCCCAGTATGATGAACTGAAAAGGACACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAA
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CCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGAGTATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTATAAAAAAATTAGCCGGGCATGGTGGTGCATACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAAGTGGAGGTTGCAGTAGGCTGTGATCGCACCACTGAACTCCAGCCTGGGCAACAGAGCAAGACTCCGTATCAAAAAAAAAATATATAAGGCCAGGGGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGAGGCAGGCACCTGTAGTCCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCTCTTTTTTTGTTGTTTTTTTTTTTCAAACACAGTCTGGCTCTGTCATCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAACACCTGGGACTACAGGTGTGCTTCATCGTGCCTGGCTAATTTTTTTATTTTTAGTAGAAACGGGGTTTCACCGTGTTGGCCGGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGTAGAGACCCTGTCTCTTAAATAAAAACCAGAAAACACAAAGAGATAGATTACCTAGGATCTTCTGCCTTTTCTCTAGAGAGATGAGGTAGCATTCAAAATTTCATTTGTAAGGTTTAATAAAACACATAGGAGAAAATGACATTCTGGTAAAGAGCCAAAATAACTGTTGTGAGCATGATATTTGGTTGTAAGTTTTCTGACAACCAAGGCAAAGATGAAAATCTGATTAGTCATGTTATCAGCTTTGTTTTCAAAGGAAGAGGATCAATTCATCAACATAAGAATTTGCCTACAGATATTTTCCACTTGTCTCAAATACCACCTTGGTCTCAATGCCAATTTTCAGACCAATTACCAAGCACAGGATTGCCTTGGATTCATACTCACCCCCATTTCTTCTTCCCGTACCACATACTGGGCCACTTTGAATGAGCTCAAATATTCATTCATGCCCTGCAATTCTGTGTCTTCAGTCTCATCCTGGTTACGGTCTAGCAGCCGTTCAATGGCCTTATCATCGTAGTGGATAACACTGCTATCTTCTCCCTCTTTGTTGTCTCCTCCTATAAAAAATCAAGGGCCCACATCCCCAAAGTCAGTTTCAGCAGCTGCAGTGGAAAAAGCAAGTCCCACAAGACCCTTGGTATCAAAGATTCTCCCTAACCTTTAGAGAGGCCAAGCCCCACACCAAAACGTAAGTTCCTGACTACCTCACCTCCATCAGTGGCTTCATCCTTGAATAGTTCCTCAGTGCCAAATTTGAGGATATCATCAAGCTCCTGTTTGGACATAGATCCAGTCTTGGAGCCCAGCCCAGGCCGCACCACTAGATGCGTCAGCATCATTTTCTTCTTTGCCACCTGCGTGATGCGCTCCTCCACTGACGCACGGGTCACAAACAGGTAGATCATTACCTTTTTATTTTGCCCAATCCGGTGAGCTCTGCTAAAGGCCTGGAGTTGAACAGGAAATAAAGCCAGAAATTGTATTTTCCTGGTGCCACTCTTATCCTGACTTCCACATAATATTCTAAATTCAGTACAAGGCAAGGTCCACAGCCTACATTCATAGGAAACTTCCTTTTGCACCCCTGCCTCCAGACACCACCCTCTATTATCATGTTACCCAAAATAGGATCACAGCTAACCAAACTCTGGCTTACAATAAGGTAAACAACACAAAAAGAATCTGTTGTTTCTCACTTAAAAACCTAATTCCAGATGGTGGAGCCCTCATAGAGGCCACTATGCCTTTCTAGCATAACATGTTACTTATTAAGGCTGCCTGCTGCCTCTGCTCACCTGAATGTCATTATGGGGGTTCCAGTCAGAGTCATAGATAATAACTGTGTCAGCAGTGGCCAGATTGATTCCAAGGCCCCCAGCTCGAGTGGAAAGCAAGAAGCAGAACTGCTGAGCACCCGGTGCTAATAAAAGAACCAAAAACACCATTAGAAGTGTCTCCTAAATTCCAATTCATAAATGTAGTTTAAAAAATTAAGCCGGGGGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCAGAGACAGGTGGATCATTTGACATCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCGCTTGAACCTGGTAGGCAGAGGTTGCAGTGAGCAGAGATTGCACCACTGCACTTTAGCCTGGGCAACAGAGCAAGAAACTCCATCTCAAAAAAAAAAAAAAATTTAGCTGGGAATGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAAGAGTTCAAGGTTATAATGAGCTCTGACTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTAACTCTTATAGAAAAATGTCAGAATAGGCCAGGTGCAGTGACTCACACCTGTAACCCCAACACTTTGCGAGGCTGAGGTGGGCAGATCACCTGTGGTCAGGAGTTCGAGACTAAGCTGGCCAACGTGGTGAAACCCTGCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATAGCTTGAACCCGGGAGGCAGAAGTAAAAAAGAAAGAATGTCAGAATATAAAACCTCATTAGGCAAACACCACAGTAATAATCATTGTAATCAAGGTCCACTGACGAATACTAATATCGGTGTGAAAGTTTAAGGAGAAACAGGACACTGACATAGTCTCAAATATCTCCCTCAAGCTATTTATCAATCACAATGGGAACAATAGAAACTTTACACTGCAGAAACTCAGCAGGCACCACCTTAACCAGTGATCAAGTCATTACCAGTAAGGGGACATATGAACATCATGTCCGTCCCCCAGTATGATGAACTGAAAAGGACACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAA
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Task1_train_17065
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This sequence variant lies in CHD4 (chromodomain helicase DNA binding protein 4) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Sifrim-Hitz-Weiss syndrome
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CACCTGTAGTCCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCTCTTTTTTTGTTGTTTTTTTTTTTCAAACACAGTCTGGCTCTGTCATCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAACACCTGGGACTACAGGTGTGCTTCATCGTGCCTGGCTAATTTTTTTATTTTTAGTAGAAACGGGGTTTCACCGTGTTGGCCGGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGTAGAGACCCTGTCTCTTAAATAAAAACCAGAAAACACAAAGAGATAGATTACCTAGGATCTTCTGCCTTTTCTCTAGAGAGATGAGGTAGCATTCAAAATTTCATTTGTAAGGTTTAATAAAACACATAGGAGAAAATGACATTCTGGTAAAGAGCCAAAATAACTGTTGTGAGCATGATATTTGGTTGTAAGTTTTCTGACAACCAAGGCAAAGATGAAAATCTGATTAGTCATGTTATCAGCTTTGTTTTCAAAGGAAGAGGATCAATTCATCAACATAAGAATTTGCCTACAGATATTTTCCACTTGTCTCAAATACCACCTTGGTCTCAATGCCAATTTTCAGACCAATTACCAAGCACAGGATTGCCTTGGATTCATACTCACCCCCATTTCTTCTTCCCGTACCACATACTGGGCCACTTTGAATGAGCTCAAATATTCATTCATGCCCTGCAATTCTGTGTCTTCAGTCTCATCCTGGTTACGGTCTAGCAGCCGTTCAATGGCCTTATCATCGTAGTGGATAACACTGCTATCTTCTCCCTCTTTGTTGTCTCCTCCTATAAAAAATCAAGGGCCCACATCCCCAAAGTCAGTTTCAGCAGCTGCAGTGGAAAAAGCAAGTCCCACAAGACCCTTGGTATCAAAGATTCTCCCTAACCTTTAGAGAGGCCAAGCCCCACACCAAAACGTAAGTTCCTGACTACCTCACCTCCATCAGTGGCTTCATCCTTGAATAGTTCCTCAGTGCCAAATTTGAGGATATCATCAAGCTCCTGTTTGGACATAGATCCAGTCTTGGAGCCCAGCCCAGGCCGCACCACTAGATGCGTCAGCATCATTTTCTTCTTTGCCACCTGCGTGATGCGCTCCTCCACTGACGCACGGGTCACAAACCGGTAGATCATTACCTTTTTATTTTGCCCAATCCGGTGAGCTCTGCTAAAGGCCTGGAGTTGAACAGGAAATAAAGCCAGAAATTGTATTTTCCTGGTGCCACTCTTATCCTGACTTCCACATAATATTCTAAATTCAGTACAAGGCAAGGTCCACAGCCTACATTCATAGGAAACTTCCTTTTGCACCCCTGCCTCCAGACACCACCCTCTATTATCATGTTACCCAAAATAGGATCACAGCTAACCAAACTCTGGCTTACAATAAGGTAAACAACACAAAAAGAATCTGTTGTTTCTCACTTAAAAACCTAATTCCAGATGGTGGAGCCCTCATAGAGGCCACTATGCCTTTCTAGCATAACATGTTACTTATTAAGGCTGCCTGCTGCCTCTGCTCACCTGAATGTCATTATGGGGGTTCCAGTCAGAGTCATAGATAATAACTGTGTCAGCAGTGGCCAGATTGATTCCAAGGCCCCCAGCTCGAGTGGAAAGCAAGAAGCAGAACTGCTGAGCACCCGGTGCTAATAAAAGAACCAAAAACACCATTAGAAGTGTCTCCTAAATTCCAATTCATAAATGTAGTTTAAAAAATTAAGCCGGGGGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCAGAGACAGGTGGATCATTTGACATCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCGCTTGAACCTGGTAGGCAGAGGTTGCAGTGAGCAGAGATTGCACCACTGCACTTTAGCCTGGGCAACAGAGCAAGAAACTCCATCTCAAAAAAAAAAAAAAATTTAGCTGGGAATGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAAGAGTTCAAGGTTATAATGAGCTCTGACTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTAACTCTTATAGAAAAATGTCAGAATAGGCCAGGTGCAGTGACTCACACCTGTAACCCCAACACTTTGCGAGGCTGAGGTGGGCAGATCACCTGTGGTCAGGAGTTCGAGACTAAGCTGGCCAACGTGGTGAAACCCTGCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATAGCTTGAACCCGGGAGGCAGAAGTAAAAAAGAAAGAATGTCAGAATATAAAACCTCATTAGGCAAACACCACAGTAATAATCATTGTAATCAAGGTCCACTGACGAATACTAATATCGGTGTGAAAGTTTAAGGAGAAACAGGACACTGACATAGTCTCAAATATCTCCCTCAAGCTATTTATCAATCACAATGGGAACAATAGAAACTTTACACTGCAGAAACTCAGCAGGCACCACCTTAACCAGTGATCAAGTCATTACCAGTAAGGGGACATATGAACATCATGTCCGTCCCCCAGTATGATGAACTGAAAAGGACACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATA
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CACCTGTAGTCCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCTCTTTTTTTGTTGTTTTTTTTTTTCAAACACAGTCTGGCTCTGTCATCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAACACCTGGGACTACAGGTGTGCTTCATCGTGCCTGGCTAATTTTTTTATTTTTAGTAGAAACGGGGTTTCACCGTGTTGGCCGGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGTAGAGACCCTGTCTCTTAAATAAAAACCAGAAAACACAAAGAGATAGATTACCTAGGATCTTCTGCCTTTTCTCTAGAGAGATGAGGTAGCATTCAAAATTTCATTTGTAAGGTTTAATAAAACACATAGGAGAAAATGACATTCTGGTAAAGAGCCAAAATAACTGTTGTGAGCATGATATTTGGTTGTAAGTTTTCTGACAACCAAGGCAAAGATGAAAATCTGATTAGTCATGTTATCAGCTTTGTTTTCAAAGGAAGAGGATCAATTCATCAACATAAGAATTTGCCTACAGATATTTTCCACTTGTCTCAAATACCACCTTGGTCTCAATGCCAATTTTCAGACCAATTACCAAGCACAGGATTGCCTTGGATTCATACTCACCCCCATTTCTTCTTCCCGTACCACATACTGGGCCACTTTGAATGAGCTCAAATATTCATTCATGCCCTGCAATTCTGTGTCTTCAGTCTCATCCTGGTTACGGTCTAGCAGCCGTTCAATGGCCTTATCATCGTAGTGGATAACACTGCTATCTTCTCCCTCTTTGTTGTCTCCTCCTATAAAAAATCAAGGGCCCACATCCCCAAAGTCAGTTTCAGCAGCTGCAGTGGAAAAAGCAAGTCCCACAAGACCCTTGGTATCAAAGATTCTCCCTAACCTTTAGAGAGGCCAAGCCCCACACCAAAACGTAAGTTCCTGACTACCTCACCTCCATCAGTGGCTTCATCCTTGAATAGTTCCTCAGTGCCAAATTTGAGGATATCATCAAGCTCCTGTTTGGACATAGATCCAGTCTTGGAGCCCAGCCCAGGCCGCACCACTAGATGCGTCAGCATCATTTTCTTCTTTGCCACCTGCGTGATGCGCTCCTCCACTGACGCACGGGTCACAAACCGGTAGATCATTACCTTTTTATTTTGCCCAATCCGGTGAGCTCTGCTAAAGGCCTGGAGTTGAACAGGAAATAAAGCCAGAAATTGTATTTTCCTGGTGCCACTCTTATCCTGACTTCCACATAATATTCTAAATTCAGTACAAGGCAAGGTCCACAGCCTACATTCATAGGAAACTTCCTTTTGCACCCCTGCCTCCAGACACCACCCTCTATTATCATGTTACCCAAAATAGGATCACAGCTAACCAAACTCTGGCTTACAATAAGGTAAACAACACAAAAAGAATCTGTTGTTTCTCACTTAAAAACCTAATTCCAGATGGTGGAGCCCTCATAGAGGCCACTATGCCTTTCTAGCATAACATGTTACTTATTAAGGCTGCCTGCTGCCTCTGCTCACCTGAATGTCATTATGGGGGTTCAAGTCAGAGTCATAGATAATAACTGTGTCAGCAGTGGCCAGATTGATTCCAAGGCCCCCAGCTCGAGTGGAAAGCAAGAAGCAGAACTGCTGAGCACCCGGTGCTAATAAAAGAACCAAAAACACCATTAGAAGTGTCTCCTAAATTCCAATTCATAAATGTAGTTTAAAAAATTAAGCCGGGGGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCAGAGACAGGTGGATCATTTGACATCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCGCTTGAACCTGGTAGGCAGAGGTTGCAGTGAGCAGAGATTGCACCACTGCACTTTAGCCTGGGCAACAGAGCAAGAAACTCCATCTCAAAAAAAAAAAAAAATTTAGCTGGGAATGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAAGAGTTCAAGGTTATAATGAGCTCTGACTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTAACTCTTATAGAAAAATGTCAGAATAGGCCAGGTGCAGTGACTCACACCTGTAACCCCAACACTTTGCGAGGCTGAGGTGGGCAGATCACCTGTGGTCAGGAGTTCGAGACTAAGCTGGCCAACGTGGTGAAACCCTGCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATAGCTTGAACCCGGGAGGCAGAAGTAAAAAAGAAAGAATGTCAGAATATAAAACCTCATTAGGCAAACACCACAGTAATAATCATTGTAATCAAGGTCCACTGACGAATACTAATATCGGTGTGAAAGTTTAAGGAGAAACAGGACACTGACATAGTCTCAAATATCTCCCTCAAGCTATTTATCAATCACAATGGGAACAATAGAAACTTTACACTGCAGAAACTCAGCAGGCACCACCTTAACCAGTGATCAAGTCATTACCAGTAAGGGGACATATGAACATCATGTCCGTCCCCCAGTATGATGAACTGAAAAGGACACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATA
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Task1_train_17066
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A genomic change on Chromosome 12 affects CHD4 (chromodomain helicase DNA binding protein 4). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Sifrim-Hitz-Weiss syndrome
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AGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCTCTTTTTTTGTTGTTTTTTTTTTTCAAACACAGTCTGGCTCTGTCATCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAACACCTGGGACTACAGGTGTGCTTCATCGTGCCTGGCTAATTTTTTTATTTTTAGTAGAAACGGGGTTTCACCGTGTTGGCCGGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGTAGAGACCCTGTCTCTTAAATAAAAACCAGAAAACACAAAGAGATAGATTACCTAGGATCTTCTGCCTTTTCTCTAGAGAGATGAGGTAGCATTCAAAATTTCATTTGTAAGGTTTAATAAAACACATAGGAGAAAATGACATTCTGGTAAAGAGCCAAAATAACTGTTGTGAGCATGATATTTGGTTGTAAGTTTTCTGACAACCAAGGCAAAGATGAAAATCTGATTAGTCATGTTATCAGCTTTGTTTTCAAAGGAAGAGGATCAATTCATCAACATAAGAATTTGCCTACAGATATTTTCCACTTGTCTCAAATACCACCTTGGTCTCAATGCCAATTTTCAGACCAATTACCAAGCACAGGATTGCCTTGGATTCATACTCACCCCCATTTCTTCTTCCCGTACCACATACTGGGCCACTTTGAATGAGCTCAAATATTCATTCATGCCCTGCAATTCTGTGTCTTCAGTCTCATCCTGGTTACGGTCTAGCAGCCGTTCAATGGCCTTATCATCGTAGTGGATAACACTGCTATCTTCTCCCTCTTTGTTGTCTCCTCCTATAAAAAATCAAGGGCCCACATCCCCAAAGTCAGTTTCAGCAGCTGCAGTGGAAAAAGCAAGTCCCACAAGACCCTTGGTATCAAAGATTCTCCCTAACCTTTAGAGAGGCCAAGCCCCACACCAAAACGTAAGTTCCTGACTACCTCACCTCCATCAGTGGCTTCATCCTTGAATAGTTCCTCAGTGCCAAATTTGAGGATATCATCAAGCTCCTGTTTGGACATAGATCCAGTCTTGGAGCCCAGCCCAGGCCGCACCACTAGATGCGTCAGCATCATTTTCTTCTTTGCCACCTGCGTGATGCGCTCCTCCACTGACGCACGGGTCACAAACCGGTAGATCATTACCTTTTTATTTTGCCCAATCCGGTGAGCTCTGCTAAAGGCCTGGAGTTGAACAGGAAATAAAGCCAGAAATTGTATTTTCCTGGTGCCACTCTTATCCTGACTTCCACATAATATTCTAAATTCAGTACAAGGCAAGGTCCACAGCCTACATTCATAGGAAACTTCCTTTTGCACCCCTGCCTCCAGACACCACCCTCTATTATCATGTTACCCAAAATAGGATCACAGCTAACCAAACTCTGGCTTACAATAAGGTAAACAACACAAAAAGAATCTGTTGTTTCTCACTTAAAAACCTAATTCCAGATGGTGGAGCCCTCATAGAGGCCACTATGCCTTTCTAGCATAACATGTTACTTATTAAGGCTGCCTGCTGCCTCTGCTCACCTGAATGTCATTATGGGGGTTCCAGTCAGAGTCATAGATAATAACTGTGTCAGCAGTGGCCAGATTGATTCCAAGGCCCCCAGCTCGAGTGGAAAGCAAGAAGCAGAACTGCTGAGCACCCGGTGCTAATAAAAGAACCAAAAACACCATTAGAAGTGTCTCCTAAATTCCAATTCATAAATGTAGTTTAAAAAATTAAGCCGGGGGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCAGAGACAGGTGGATCATTTGACATCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCGCTTGAACCTGGTAGGCAGAGGTTGCAGTGAGCAGAGATTGCACCACTGCACTTTAGCCTGGGCAACAGAGCAAGAAACTCCATCTCAAAAAAAAAAAAAAATTTAGCTGGGAATGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAAGAGTTCAAGGTTATAATGAGCTCTGACTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTAACTCTTATAGAAAAATGTCAGAATAGGCCAGGTGCAGTGACTCACACCTGTAACCCCAACACTTTGCGAGGCTGAGGTGGGCAGATCACCTGTGGTCAGGAGTTCGAGACTAAGCTGGCCAACGTGGTGAAACCCTGCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATAGCTTGAACCCGGGAGGCAGAAGTAAAAAAGAAAGAATGTCAGAATATAAAACCTCATTAGGCAAACACCACAGTAATAATCATTGTAATCAAGGTCCACTGACGAATACTAATATCGGTGTGAAAGTTTAAGGAGAAACAGGACACTGACATAGTCTCAAATATCTCCCTCAAGCTATTTATCAATCACAATGGGAACAATAGAAACTTTACACTGCAGAAACTCAGCAGGCACCACCTTAACCAGTGATCAAGTCATTACCAGTAAGGGGACATATGAACATCATGTCCGTCCCCCAGTATGATGAACTGAAAAGGACACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATACCAATGTTAATTTTCTAGTTTTGATCATTGTACTGCAGTTACGTAAGTTATTATTAAGAGAAG
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AGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGGGAGAGAGTGAGATTCCATCTCAAAATAAATAAATAAATACATACATACATACATACACAAGGAGGCCTGGTGTGGTGGCTAACACCTGTAATTCCAGCACTTTGGGAGGTCAAGGCAGGAGAACTGCTTAAGGCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACATCTCTAAAAACATTTAAAAAATTAACCAGGTGTGGTAGCACACATCTACTAGGGTCACTCTTCAGCCCAAGAGTTTAAGGTTGCACTCAGCTATGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCTCTTTTTTTGTTGTTTTTTTTTTTCAAACACAGTCTGGCTCTGTCATCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAACACCTGGGACTACAGGTGTGCTTCATCGTGCCTGGCTAATTTTTTTATTTTTAGTAGAAACGGGGTTTCACCGTGTTGGCCGGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCACCTGGTAGAGACCCTGTCTCTTAAATAAAAACCAGAAAACACAAAGAGATAGATTACCTAGGATCTTCTGCCTTTTCTCTAGAGAGATGAGGTAGCATTCAAAATTTCATTTGTAAGGTTTAATAAAACACATAGGAGAAAATGACATTCTGGTAAAGAGCCAAAATAACTGTTGTGAGCATGATATTTGGTTGTAAGTTTTCTGACAACCAAGGCAAAGATGAAAATCTGATTAGTCATGTTATCAGCTTTGTTTTCAAAGGAAGAGGATCAATTCATCAACATAAGAATTTGCCTACAGATATTTTCCACTTGTCTCAAATACCACCTTGGTCTCAATGCCAATTTTCAGACCAATTACCAAGCACAGGATTGCCTTGGATTCATACTCACCCCCATTTCTTCTTCCCGTACCACATACTGGGCCACTTTGAATGAGCTCAAATATTCATTCATGCCCTGCAATTCTGTGTCTTCAGTCTCATCCTGGTTACGGTCTAGCAGCCGTTCAATGGCCTTATCATCGTAGTGGATAACACTGCTATCTTCTCCCTCTTTGTTGTCTCCTCCTATAAAAAATCAAGGGCCCACATCCCCAAAGTCAGTTTCAGCAGCTGCAGTGGAAAAAGCAAGTCCCACAAGACCCTTGGTATCAAAGATTCTCCCTAACCTTTAGAGAGGCCAAGCCCCACACCAAAACGTAAGTTCCTGACTACCTCACCTCCATCAGTGGCTTCATCCTTGAATAGTTCCTCAGTGCCAAATTTGAGGATATCATCAAGCTCCTGTTTGGACATAGATCCAGTCTTGGAGCCCAGCCCAGGCCGCACCACTAGATGCGTCAGCATCATTTTCTTCTTTGCCACCTGCGTGATGCGCTCCTCCACTGACGCACGGGTCACAAACCGGTAGATCATTACCTTTTTATTTTGCCCAATCCGGTGAGCTCTGCTAAAGGCCTGGAGTTGAACAGGAAATAAAGCCAGAAATTGTATTTTCCTGGTGCCACTCTTATCCTGACTTCCACATAATATTCTAAATTCAGTACAAGGCAAGGTCCACAGCCTACATTCATAGGAAACTTCCTTTTGCACCCCTGCCTCCAGACACCACCCTCTATTATCATGTTACCCAAAATAGGATCACAGCTAACCAAACTCTGGCTTACAATAAGGTAAACAACACAAAAAGAATCTGTTGTTTCTCACTTAAAAACCTAATTCCAGATGGTGGAGCCCTCATAGAGGCCACTATGCCTTTCTAGCATAACATGTTACTTATTAAGGCTGCCTGCTGCCTCTGCTCACCTGAATGTCATTATGGGGGTTCCAGTCAGAGTCATAGATAATAACTGTGTCAGCAGTGGCCAGATTGATTCCAAGGCCCCCAGCTTGAGTGGAAAGCAAGAAGCAGAACTGCTGAGCACCCGGTGCTAATAAAAGAACCAAAAACACCATTAGAAGTGTCTCCTAAATTCCAATTCATAAATGTAGTTTAAAAAATTAAGCCGGGGGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCAGAGACAGGTGGATCATTTGACATCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTATACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAACCGCTTGAACCTGGTAGGCAGAGGTTGCAGTGAGCAGAGATTGCACCACTGCACTTTAGCCTGGGCAACAGAGCAAGAAACTCCATCTCAAAAAAAAAAAAAAATTTAGCTGGGAATGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAGCCCAAGAGTTCAAGGTTATAATGAGCTCTGACTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTAACTCTTATAGAAAAATGTCAGAATAGGCCAGGTGCAGTGACTCACACCTGTAACCCCAACACTTTGCGAGGCTGAGGTGGGCAGATCACCTGTGGTCAGGAGTTCGAGACTAAGCTGGCCAACGTGGTGAAACCCTGCCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATAGCTTGAACCCGGGAGGCAGAAGTAAAAAAGAAAGAATGTCAGAATATAAAACCTCATTAGGCAAACACCACAGTAATAATCATTGTAATCAAGGTCCACTGACGAATACTAATATCGGTGTGAAAGTTTAAGGAGAAACAGGACACTGACATAGTCTCAAATATCTCCCTCAAGCTATTTATCAATCACAATGGGAACAATAGAAACTTTACACTGCAGAAACTCAGCAGGCACCACCTTAACCAGTGATCAAGTCATTACCAGTAAGGGGACATATGAACATCATGTCCGTCCCCCAGTATGATGAACTGAAAAGGACACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATACCAATGTTAATTTTCTAGTTTTGATCATTGTACTGCAGTTACGTAAGTTATTATTAAGAGAAG
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Task1_train_17067
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Gene CHD4 (chromodomain helicase DNA binding protein 4) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
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CACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATACCAATGTTAATTTTCTAGTTTTGATCATTGTACTGCAGTTACGTAAGTTATTATTAAGAGAAGCTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGGTGTGTCCAGGCTGTAGTAAGCCATGATTGTGCCACTGCTCTCCAGCCTCGGCAACAGAGTGAGACCCTATCTCGAATAAACAAAACAAAACAGGCTGGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACACGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGG
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CACATCATCGACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGTTCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAGTACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATACCAATGTTAATTTTCTAGTTTTGATCATTGTACTGCAGTTACGTAAGTTATTATTAAGAGAAGCTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGGTGTGTCCAGGCTGTAGTAAGCCATGATTGTGCCACTGCTCTCCAGCCTCGGCAACAGAGTGAGACCCTATCTCGAATAAACAAAACAAAACAGGCTGGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTTGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACACGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGG
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Task1_train_17068
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This variant affects gene CHD4 (chromodomain helicase DNA binding protein 4) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Sifrim-Hitz-Weiss syndrome
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GCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATACCAATGTTAATTTTCTAGTTTTGATCATTGTACTGCAGTTACGTAAGTTATTATTAAGAGAAGCTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGGTGTGTCCAGGCTGTAGTAAGCCATGATTGTGCCACTGCTCTCCAGCCTCGGCAACAGAGTGAGACCCTATCTCGAATAAACAAAACAAAACAGGCTGGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACACGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGGTAGAAAGAGGGGCGCTCACTAGGAAGGGGCCTTTGGAATGACCCTTTGAGAAAAAAGAGGAGAGTCAGGACTGAGGGCCCCAGCACACTGCAACCCCAGCGAACACCCACCACCCTGCTGCCCCCTCAAGCTGAGCCAAGGACTGACACACCTGCGCTGCTGCTCCTGCTCTCACCTTCCTCTATAC
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GCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATACCAATGTTAATTTTCTAGTTTTGATCATTGTACTGCAGTTACGTAAGTTATTATTAAGAGAAGCTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGGTGTGTCCAGGCTGTAGTAAGCCATGATTGTGCCACTGCTCTCCAGCCTCGGCAACAGAGTGAGACCCTATCTCGAATAAACAAAACAAAACAGGCTGGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACATGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGGTAGAAAGAGGGGCGCTCACTAGGAAGGGGCCTTTGGAATGACCCTTTGAGAAAAAAGAGGAGAGTCAGGACTGAGGGCCCCAGCACACTGCAACCCCAGCGAACACCCACCACCCTGCTGCCCCCTCAAGCTGAGCCAAGGACTGACACACCTGCGCTGCTGCTCCTGCTCTCACCTTCCTCTATAC
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Task1_train_17069
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A variant found in Chromosome 12 affects CHD4 (chromodomain helicase DNA binding protein 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Inborn genetic diseases
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GCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATACCAATGTTAATTTTCTAGTTTTGATCATTGTACTGCAGTTACGTAAGTTATTATTAAGAGAAGCTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGGTGTGTCCAGGCTGTAGTAAGCCATGATTGTGCCACTGCTCTCCAGCCTCGGCAACAGAGTGAGACCCTATCTCGAATAAACAAAACAAAACAGGCTGGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACACGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGGTAGAAAGAGGGGCGCTCACTAGGAAGGGGCCTTTGGAATGACCCTTTGAGAAAAAAGAGGAGAGTCAGGACTGAGGGCCCCAGCACACTGCAACCCCAGCGAACACCCACCACCCTGCTGCCCCCTCAAGCTGAGCCAAGGACTGACACACCTGCGCTGCTGCTCCTGCTCTCACCTTCCTCTATAC
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GCTGAGGCAGCAGAATGGCTTGAACCCGGGAGGCAGAGGTTGCAGTCAGCCAAAATCAGGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAGAAAAGGACACATCATCACCTCTGTGGCATTCTTGCCCAGAATGTCTAATCTAATCAAGAGAAAACATCACACAAACCCAAACTTAAGAGACATTCTACAAAATAACTGAACAGTGCTTATCAAAAGTATCTATATTGACCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCTGGGCCCGTGGTGGCACACACCCGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGTATTGCTTGAACCCAGGAGGCATAGGTTGCAATGAGTCAAGATCGCGCCACTGCACTCCAATCTGGGCAACAGAGTGAGACTCCATCCCGAAGAAGAAAAAAAATCTGTATCATATAAGAAAATAAAGAAATGTCACAGATAGCAGGAAGCACAATAACTAAATGGAACACGGGACCTGGGATTGGATCCTGAAACAGAAAACAGACATCAAGAAAAATTGGTGACATTCATTGAAGTTCTGTCATTTATAGTACAATACCAATGTTAATTTTCTAGTTTTGATCATTGTACTGCAGTTACGTAAGTTATTATTAAGAGAAGCTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGGTGTGTCCAGGCTGTAGTAAGCCATGATTGTGCCACTGCTCTCCAGCCTCGGCAACAGAGTGAGACCCTATCTCGAATAAACAAAACAAAACAGGCTGGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACATGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGGTAGAAAGAGGGGCGCTCACTAGGAAGGGGCCTTTGGAATGACCCTTTGAGAAAAAAGAGGAGAGTCAGGACTGAGGGCCCCAGCACACTGCAACCCCAGCGAACACCCACCACCCTGCTGCCCCCTCAAGCTGAGCCAAGGACTGACACACCTGCGCTGCTGCTCCTGCTCTCACCTTCCTCTATAC
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Task1_train_17070
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A mutation in CHD4 (chromodomain helicase DNA binding protein 4), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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CTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGGTGTGTCCAGGCTGTAGTAAGCCATGATTGTGCCACTGCTCTCCAGCCTCGGCAACAGAGTGAGACCCTATCTCGAATAAACAAAACAAAACAGGCTGGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACACGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGGTAGAAAGAGGGGCGCTCACTAGGAAGGGGCCTTTGGAATGACCCTTTGAGAAAAAAGAGGAGAGTCAGGACTGAGGGCCCCAGCACACTGCAACCCCAGCGAACACCCACCACCCTGCTGCCCCCTCAAGCTGAGCCAAGGACTGACACACCTGCGCTGCTGCTCCTGCTCTCACCTTCCTCTATACAAGTGCCCAGCCCACTCCTTTCCAAAAACCCAAGGTCCCACCATAACTACAAGTCTTACCTCTCCCATTAAGTCTTTATATACTTTTTTTCTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACATCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCAACCTCGGGCTTCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGTCCAGCCAAGCCTTTCCATACTAATTCTACTCATAATTCTACTTCCCTCAACACACAATCATTCCCCTAGAACTGATACTCTATGGATCCACTGCTAATCCTACCCAGGGCTCCATGCCCTCAAATCTTCCGCTGTGTACATGTGTTTATCCACTATCACATTTATCTACTATCTACTAAACACATGTGTACATGTGTTTATCTATTATCCACAGTGTTCTTGAAGGTCAGAGACCAATTTTTTTATTCCCTTATCTCTCTACTCAGTGTAAGTTAAGGCTTCAAACACAAAACACCCACACAAAAAACTATCCACCCCAGATTTCCTTACCTCCTTGTAAAGGGAATACAGGAAGACTGCTGTCTGTACAGTTTTCCCAAGGCCCATCTCATCAGCCA
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CTAGCTAGTTGAACAGTATACATGAACTCTCTCTGCTGTTTTGCAACTTTTTTCTAAGTCTAAAATTAAAATAAAAAGTTTTTTTTTTTTAAACAAGGAGTAGTGATACTGAGCACAGTGGCTTATGCCTATAATCTCAATACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGAACTTTGTGATCAGCCTGGGCAACATGGCAAGACCCCATCTCTACAAAAAAATTTTTTTAGTTAGCTAGGTACAGTGGATCAAGCCTACAGCCCCAGCTAGTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCTGGGGGTGTGTCCAGGCTGTAGTAAGCCATGATTGTGCCACTGCTCTCCAGCCTCGGCAACAGAGTGAGACCCTATCTCGAATAAACAAAACAAAACAGGCTGGGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACGCCTGTTGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACACGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAATATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGGTAGAAAGAGGGGCGCTCACTAGGAAGGGGCCTTTGGAATGACCCTTTGAGAAAAAAGAGGAGAGTCAGGACTGAGGGCCCCAGCACACTGCAACCCCAGCGAACACCCACCACCCTGCTGCCCCCTCAAGCTGAGCCAAGGACTGACACACCTGCGCTGCTGCTCCTGCTCTCACCTTCCTCTATACAAGTGCCCAGCCCACTCCTTTCCAAAAACCCAAGGTCCCACCATAACTACAAGTCTTACCTCTCCCATTAAGTCTTTATATACTTTTTTTCTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACATCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCAACCTCGGGCTTCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGTCCAGCCAAGCCTTTCCATACTAATTCTACTCATAATTCTACTTCCCTCAACACACAATCATTCCCCTAGAACTGATACTCTATGGATCCACTGCTAATCCTACCCAGGGCTCCATGCCCTCAAATCTTCCGCTGTGTACATGTGTTTATCCACTATCACATTTATCTACTATCTACTAAACACATGTGTACATGTGTTTATCTATTATCCACAGTGTTCTTGAAGGTCAGAGACCAATTTTTTTATTCCCTTATCTCTCTACTCAGTGTAAGTTAAGGCTTCAAACACAAAACACCCACACAAAAAACTATCCACCCCAGATTTCCTTACCTCCTTGTAAAGGGAATACAGGAAGACTGCTGTCTGTACAGTTTTCCCAAGGCCCATCTCATCAGCCA
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Task1_train_17071
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This variant affects the gene CHD4 (chromodomain helicase DNA binding protein 4) 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; Sifrim-Hitz-Weiss syndrome
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AAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACACGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGGATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGGTAGAAAGAGGGGCGCTCACTAGGAAGGGGCCTTTGGAATGACCCTTTGAGAAAAAAGAGGAGAGTCAGGACTGAGGGCCCCAGCACACTGCAACCCCAGCGAACACCCACCACCCTGCTGCCCCCTCAAGCTGAGCCAAGGACTGACACACCTGCGCTGCTGCTCCTGCTCTCACCTTCCTCTATACAAGTGCCCAGCCCACTCCTTTCCAAAAACCCAAGGTCCCACCATAACTACAAGTCTTACCTCTCCCATTAAGTCTTTATATACTTTTTTTCTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACATCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCAACCTCGGGCTTCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGTCCAGCCAAGCCTTTCCATACTAATTCTACTCATAATTCTACTTCCCTCAACACACAATCATTCCCCTAGAACTGATACTCTATGGATCCACTGCTAATCCTACCCAGGGCTCCATGCCCTCAAATCTTCCGCTGTGTACATGTGTTTATCCACTATCACATTTATCTACTATCTACTAAACACATGTGTACATGTGTTTATCTATTATCCACAGTGTTCTTGAAGGTCAGAGACCAATTTTTTTATTCCCTTATCTCTCTACTCAGTGTAAGTTAAGGCTTCAAACACAAAACACCCACACAAAAAACTATCCACCCCAGATTTCCTTACCTCCTTGTAAAGGGAATACAGGAAGACTGCTGTCTGTACAGTTTTCCCAAGGCCCATCTCATCAGCCAAGATGGTGTCAGTGCCCTGAGCCCAGGAGAAGCGCAACCAATTCAGGCCCTCCATTTGATAGGGGTGCAGGGTTCCACCTGTAGCATCCAGGTACTCTGGCTGTCGCTCATACTTCACTGTTGGCTGAAGGATGAAACAGAGAAGTCAAGAGCTGGCAAGGAACTCCCCTCCTCCCCTAATAGAGCAGCTGCTTCCTCCTCACTAGTCTTCACGGATCCTCTTGGGGAAGAGCTCCGGAAAATTCGGAGGGAAGAGATCCCCTATGATTACTGCAATTTCATGTTCAGTTTAGGGTCCTCCAGGAAACAGGGCTTAACCAGACCTGATTTTGATCCTACAGATCACTGAGGAAAAGCACGTCACAGACTCCCTACCAATACAATAATTCTACTAGTCAGGATCCACCAGGTAAATAATCGTTATGTCCCTCTTAGATTCATCTTTTTAACTTTAATCACCCTCAAATTACACTGTACAAACAAAACCCAGAGGAACTGAGCCTGAATTAAGCCAGATTCCTATGTAAGTGCATAAAAGCTAGGCTATGTGGCCCCTCCCCCCAGACAACACTTCTTCAATCATTCAAAATATACCTCCTTTTTTTTTTTCTGATGACAAAAGAAGAAAGTAATCCTAGTGCTTTCTGATATATAGAGATGTGGAGAAGTGGGGAAGCCGACTTTGTGAAGTAATCTCAGCTACAAAGTTACT
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AAAAAAAAACCTAGTAGCGTCTACTGAGGCAGACAAGTCTGCTAGTAACTTGCTATTTGAGCTTGAACAAGTCCTGACCCTTTGCTTGCCCTCGAGATACAATGCTTTCTTCTTTCTAGCAGAAAGAACAAATACCCCAAAAGAAAAAATCTCCTAGGAATAGTCCAATACATTCGTCCAATTGAGACATTCAAAAGCTTTACTCCATCTCAAATGACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTCCCAGTCCACATGATACCTGGGAAAAGATGAGTACACGATGCCCACCCTCCTTAAGGTTCTTGAGCATTTTCTGCAGCAGCAATAATTTCCCAGATGCTCTGATTAGGGCACTGCCATCATACATGCCATTAGGCATCTTAGGAGCTTCCTGAGAACAAATGCAAAGAAAAAAGTATTAAAAGAAAGCCCACATGGAGAAGACCCAACCCAGGGAGGAACAGGAGATGGCACTACATACCATTGCAGCCACAGGGAAGAGGTATGGATGGTTGCAGCACTTCTTAAGATCCATCACCACATTCAGCAGAGACACCTGGTTGCCACCACCTCGGGCATTGAGTGCTTCAAAATTTCGAGTGAGGATGTACTTGTAGTATTTCCTACATGGGCAAGGTAGAAAGACAGGTTAGACTTGAGAGCCTTTCAATGACTAATAATGCAGTGCCAACAACTGAGATCTTTCTTCCAACACATCCCACTTTGGAACTAAGGACACCTAACGCACAAGCACTACCACCACCACCATTTTAAATAAGGAAAGGTATAACCTAAAATAAGTAAGAACTATGCGCTCCAGCGCCCTAGCATCAGGTTTCTTCAGGCCTTGCTTGCTCCTGTCACCAGATGCCTTGAAGCTGAGTGGGGGAGGAATAGGAAACACTCTGCAGACTGGCAGATGTCTAAATGGAGTCTGCTTCTGTCCCTCCCAACTCACTTCTGCATAGGGCTCAGCTCCACACGCACAATTAGTTCTGTCTTGGAGGGCATGTTCTTGAACACATCGGCTTTGAGCCGCCGCAACATGTGCGGCCCCAGCATGTCATGCAGTTTTTTTATCTGGTCCTCCTTGGCAATGTCAGCAAACTCCTCCAAAAAACCTTCCAAATTGCTTCAGAAAGAAAAAGGAAAAAAGTTATTGGAGAAGGAGAAAGGAAGAAAGAAAAGTGATACAGGAAATGGGCAACAGGAAGAATGAGAGGCACAATTATGAGCCGATTACAGATAAACACATACTTACTGGAACCTCTCGGGGGTGAGAAAGTTGAGCAGATGAAACAACTCTTCCAGATTGTTTTGTAATGGTGTCCCAGTCAGCAACAGCTTGTGCTGGAGTGAGTAACCATTCAATACCCGGAAGAACTGGTGAAGCAGATGGAGAAAGGTGAAATCCAATGAAAACAGAGCTCTAGCAAATCTCTACAAAATTTCAAGTTTTTCACTGCCCAATAGTTAAGCATCCCACTCCTCACATTCTTTTTAAAGGCCTGGCCACCAAGGGCTGTCACATACAAGGAAGGAAGGCAGAGACAATTTTCCCCTCTCCTCTCCATCTACAAGTTTTCCCCTTAATGAATTGGTAGTACTAGAAAAAACCCAAAGTGGGGGCTCCAACATCCCTCCCTCAGCCCTCACCTTAGACTGATTGTTCTTCAGCCGATGGGCTTCATCCACGATGAGGCAGGCCCAATCAATAGAGCCCAAAATAGCCATGTCAATGGTGATCAATTCATAGTATGTCAGCAGCACATGGAATTTCACAGATGCCTCTTTCTGCACATGAAGGCAACTTGGTCACTACTAGTCAGTTCCTCTGTGTAAGCACAACCAGGAGACTGATGGAATGTTTTCCTCCTCCCAGGGTTACCCTTTTGCCTCACCAGGGACCAGATCACAAGGAGGTAAACTAAGCCAGAAGCCACAACTCTTTCTCTAGGGTGGCTTCCCTCCCCTGAGATACCTTCATGCGGGAGGCCTTCTTGCCACCACGAATGGCATTGTCTTCAAAGGAGAACTCATTCTCTCGGATGATGGCACGGCTGTCCTTGTCACCCACATAGGTTACGACATACATGTCTGGAGCCCACATTTCAAACTCCCGCTCCCAGTTGATGATGGTAGAAAGAGGGGCGCTCACTAGGAAGGGGCCTTTGGAATGACCCTTTGAGAAAAAAGAGGAGAGTCAGGACTGAGGGCCCCAGCACACTGCAACCCCAGCGAACACCCACCACCCTGCTGCCCCCTCAAGCTGAGCCAAGGACTGACACACCTGCGCTGCTGCTCCTGCTCTCACCTTCCTCTATACAAGTGCCCAGCCCACTCCTTTCCAAAAACCCAAGGTCCCACCATAACTACAAGTCTTACCTCTCCCATTAAGTCTTTATATACTTTTTTTCTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACATCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCAACCTCGGGCTTCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCGTCCAGCCAAGCCTTTCCATACTAATTCTACTCATAATTCTACTTCCCTCAACACACAATCATTCCCCTAGAACTGATACTCTATGGATCCACTGCTAATCCTACCCAGGGCTCCATGCCCTCAAATCTTCCGCTGTGTACATGTGTTTATCCACTATCACATTTATCTACTATCTACTAAACACATGTGTACATGTGTTTATCTATTATCCACAGTGTTCTTGAAGGTCAGAGACCAATTTTTTTATTCCCTTATCTCTCTACTCAGTGTAAGTTAAGGCTTCAAACACAAAACACCCACACAAAAAACTATCCACCCCAGATTTCCTTACCTCCTTGTAAAGGGAATACAGGAAGACTGCTGTCTGTACAGTTTTCCCAAGGCCCATCTCATCAGCCAAGATGGTGTCAGTGCCCTGAGCCCAGGAGAAGCGCAACCAATTCAGGCCCTCCATTTGATAGGGGTGCAGGGTTCCACCTGTAGCATCCAGGTACTCTGGCTGTCGCTCATACTTCACTGTTGGCTGAAGGATGAAACAGAGAAGTCAAGAGCTGGCAAGGAACTCCCCTCCTCCCCTAATAGAGCAGCTGCTTCCTCCTCACTAGTCTTCACGGATCCTCTTGGGGAAGAGCTCCGGAAAATTCGGAGGGAAGAGATCCCCTATGATTACTGCAATTTCATGTTCAGTTTAGGGTCCTCCAGGAAACAGGGCTTAACCAGACCTGATTTTGATCCTACAGATCACTGAGGAAAAGCACGTCACAGACTCCCTACCAATACAATAATTCTACTAGTCAGGATCCACCAGGTAAATAATCGTTATGTCCCTCTTAGATTCATCTTTTTAACTTTAATCACCCTCAAATTACACTGTACAAACAAAACCCAGAGGAACTGAGCCTGAATTAAGCCAGATTCCTATGTAAGTGCATAAAAGCTAGGCTATGTGGCCCCTCCCCCCAGACAACACTTCTTCAATCATTCAAAATATACCTCCTTTTTTTTTTTCTGATGACAAAAGAAGAAAGTAATCCTAGTGCTTTCTGATATATAGAGATGTGGAGAAGTGGGGAAGCCGACTTTGTGAAGTAATCTCAGCTACAAAGTTACT
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Task1_train_17072
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The following genetic variant occurs in CD4 (CD4 molecule) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Immunodeficiency 79
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CACAGTGTATTGTGTCTCTGGTTAATAGAGAACGGAGAATGGTGATGACTTTCACCAAGCACACTGCCTGCAAGAACTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCACCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGGCAAGAACTTTTTAAAAGTGCATCTTGCGCAGCCCTAGATCCATTAAACCTTGATTCAATACAGGACATGTTTTTGTGAGCACAGGGTTGGGACAAAAGTTACAGATTAACAGCATCTCAAAGCAGAACAATTTTTCTTAGTACAGATCAAAATGGAGTTTCTTATGTCTTCCTTTTTCTACATAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCATACCTCTCACGCTGTATCAGGCCCCAATTCTTGGGAACGTCACCTTAGAACTGTCCCACACATTTCTACAGCCACTTGGCTCAGGCCCTTTGCTGACCAGGATGGTTGCAGTTCTGCCTTTGGTGCCTCGCCTCCTCCAGTTCTTTCACTCAGCAGCTGCAGGGGTCCACGTGGCAAATCTAATAATCTTCTTCTCTATAGAAAATCCTCTGCTGGCTCTCTAGTGCCCAGGATCCAGTCCCAGCATCTCAGCACGGCCTTCAAGCATTTCCACGTCCTGGCCTGGCTCCATGGTCTCCCCGCCAATTTGCCACCTTCTCCATGCATCCTTTTCTGATCCCCTCCTCACTCATCCCAGCAAAGAACCCCCTCCTGGCCTGAGCATAGCATTTCGTGGTGTGTATCTCAGAGCATCCAGTTAGGGGTGTGCAAGTTTACTTTGTTACTGGCTGATGTTGTGAAGTCCCAAGTTGTTGGTGCCGCAAACAAAAAATTGGACATGACACACACAAATAGCAAAGCAGCAAAAGTTTATTAAGCACAGTACGATCCACTATGGATCAAGGATGACCTGCGAATGGTATCAGCATCACTTTGCTATATTTCATGGCCTTTTCTATGTGTTTTTTTTCTCTTTTTCCTCAAGCTGCCTAAGCTTTAGCCAGCATGTGCCTTTTGGTTGACAGGTGGGTTGCTTAGTTTCTTGGCCTCTGTGTGTTTACGTGTCATTTCCTTCCCATAGTTTTAAGTACATGCATGATATGCACTCTGTAGGCATGAACCTTAAGTAGCTAATTACTATACGGGGTCATTTTGAGGATATCTTTTCTCTGTAGTACATGTGCATCTTTTTTTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCTCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTAAGCACCTGAGACTACAGGTGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCGCAAGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCACCCAGCCTAGTATATGCCCATCTCTTAGGAGCTGCTCCTAACTGGTTTGGTTTGGATCTAGCCAGCCATGGGGCTCCTTATTCACTTATTTATCTTCTGTTTTTGCTCACCTGCCTCTTTCTCTTGCTTCTGCTCCTACTCATTCCTTCCTTAATCCAACCTCCAATTCCCTCTGCTATTCTCCTGCCTCAAGTTCACTAGGCTGGCTGCAAGGGTCCTGAGGGAGAGGTTGTGTATCGCCCCTGTATACTCCAGGTCCAGTAAATGTTTGCTGACTAATGATTGGCATTTCCCTCAGGCCCTGCCATTTCTGTGGGCTCAGGTCCCTACTGGCTCAGGCCCCTGCCTCCCTCGGCAAGGCCACAATGAACCGGGGAGTCCCTTTTAGGCACTTGCTTCTGGTGCTGCAACTGGGTAAGTTCTCAGACCTGGGGTCTCAATGCAGATGACGTGGGAGGAAAGGCAAAGGTGGAGGATGGGGTAGAGGGGGACAGCGGCGACATTGAGACCTGACTCCTTTCTTTTCCACTTAGCGCTCCTCCCAGCAGCCACTCAGGGAAAGAAAGTGGTGCTGGGCAAAAAAGGGGATACAGTGGAACTGACCTGTACAGCTTCCCAGAAGAAGAGCATACAATTCCACTGGAAAAACTCCAACCAGATAAAGATTCTGGGAAATCAGGGCTCCTTCTTAACTAAAGGTAGGGTTGCCTGGCTCCCCATCCAGGGAGGAAAACACACTATGGAGTGAAAGCCTTTGGTGTCTGAGATCTGGTCTTAGTTAAACTCTGGGATCCCAGAGGGCTTGGGTTGACAGAAACTCAGTGGCATTCTTATCCAGAGTTTCTCTACACCAACTGCTGGTGGCCCAGGGAAAGGTGGTATGTGAATTTCAATATTTTAATATTTAATATTCATGAACTTATTTTAGTGAGTTTTAGAACAATCACTATCACTTAAAACCCGTGATTTCTTGAGTATTGTTGCTACAGACCTATGTAGATAATACTTTGCACAGTGACTCATATGTATAATCCTAGCACTGTGGGAGGCTGAGGCCGGAGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGAACAACATAGTGAGACTCTGTCTCTATGAAAAAAAATATATATATATTTTTTTTGGAGACAAGGTCTAGTTCTATCACCCAGGCTCCAGTGCAGTGGTGTGATCTCGGCTCACTGCAATCTCCACCTCCCAGGCTCAAGTCATCATCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCAGGCTAATTTTTGTATTTTTTATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCATGAGCTCAAGTGATCCACTCACCTTGGCCTCTCAGAGTGCTGGAATTACAGGTGTGTGTCACTATGCCTAGCCAAAAAAAATTTTTTTAATTAAAAAAAAAAAGGCCGGCTGTAGTGGCTCACACCTGTAATCCAGAACTTTGGGAGTTTGAGGTGGGCAGATCACCGGNGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGGGGTGCAGTCCTGTACTTCCAGCTACTCAGGAGGCTGAGGCAGGAGACTCGCTTGAACCTGGGAGGCAAAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAAAAAAAGCTGCANATTTATTATTATTATTATTAGTTTATTTATTTATTTTTTTGAGACAGAGTCTCGTTCTGTCGCCCAGGCTGGAGTGCGGTGGCGTGATCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTATGCCACCATGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACAGAGTTTCACGGTGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATTTACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACTGTGCCCGGCCCAGAATCATTTTTTTCTACTTTTTTTTTTTTGAGGCAAACTCTCGATCTGTTGCCCAGGCTGGAGTGCAGTGGGCATGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCGGCTAATTTGCGTATTTTTAGTAGAGACCGGTTTTCATCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATTCTCCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCACTTGGCCTTTTCTCCTGGTT
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CACAGTGTATTGTGTCTCTGGTTAATAGAGAACGGAGAATGGTGATGACTTTCACCAAGCACACTGCCTGCAAGAACTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCACCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGGCAAGAACTTTTTAAAAGTGCATCTTGCGCAGCCCTAGATCCATTAAACCTTGATTCAATACAGGACATGTTTTTGTGAGCACAGGGTTGGGACAAAAGTTACAGATTAACAGCATCTCAAAGCAGAACAATTTTTCTTAGTACAGATCAAAATGGAGTTTCTTATGTCTTCCTTTTTCTACATAGACACAGTAACAATCTGATCTCTCTTTCTTTTCCCCATACCTCTCACGCTGTATCAGGCCCCAATTCTTGGGAACGTCACCTTAGAACTGTCCCACACATTTCTACAGCCACTTGGCTCAGGCCCTTTGCTGACCAGGATGGTTGCAGTTCTGCCTTTGGTGCCTCGCCTCCTCCAGTTCTTTCACTCAGCAGCTGCAGGGGTCCACGTGGCAAATCTAATAATCTTCTTCTCTATAGAAAATCCTCTGCTGGCTCTCTAGTGCCCAGGATCCAGTCCCAGCATCTCAGCACGGCCTTCAAGCATTTCCACGTCCTGGCCTGGCTCCATGGTCTCCCCGCCAATTTGCCACCTTCTCCATGCATCCTTTTCTGATCCCCTCCTCACTCATCCCAGCAAAGAACCCCCTCCTGGCCTGAGCATAGCATTTCGTGGTGTGTATCTCAGAGCATCCAGTTAGGGGTGTGCAAGTTTACTTTGTTACTGGCTGATGTTGTGAAGTCCCAAGTTGTTGGTGCCGCAAACAAAAAATTGGACATGACACACACAAATAGCAAAGCAGCAAAAGTTTATTAAGCACAGTACGATCCACTATGGATCAAGGATGACCTGCGAATGGTATCAGCATCACTTTGCTATATTTCATGGCCTTTTCTATGTGTTTTTTTTCTCTTTTTCCTCAAGCTGCCTAAGCTTTAGCCAGCATGTGCCTTTTGGTTGACAGGTGGGTTGCTTAGTTTCTTGGCCTCTGTGTGTTTACGTGTCATTTCCTTCCCATAGTTTTAAGTACATGCATGATATGCACTCTGTAGGCATGAACCTTAAGTAGCTAATTACTATACGGGGTCATTTTGAGGATATCTTTTCTCTGTAGTACATGTGCATCTTTTTTTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCTCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTAAGCACCTGAGACTACAGGTGCATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCGCAAGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCACCCAGCCTAGTATATGCCCATCTCTTAGGAGCTGCTCCTAACTGGTTTGGTTTGGATCTAGCCAGCCATGGGGCTCCTTATTCACTTATTTATCTTCTGTTTTTGCTCACCTGCCTCTTTCTCTTGCTTCTGCTCCTACTCATTCCTTCCTTAATCCAACCTCCAATTCCCTCTGCTATTCTCCTGCCTCAAGTTCACTAGGCTGGCTGCAAGGGTCCTGAGGGAGAGGTTGTGTATCGCCCCTGTATACTCCAGGTCCAGTAAATGTTTGCTGACTAATGATTGGCATTTCCCTCAGGCCCTGCCATTTCTGTGGGCTCAGGTCCCTACTGGCTCAGGCCCCTGCCTCCCTCGGCAAGGCCACAGTGAACCGGGGAGTCCCTTTTAGGCACTTGCTTCTGGTGCTGCAACTGGGTAAGTTCTCAGACCTGGGGTCTCAATGCAGATGACGTGGGAGGAAAGGCAAAGGTGGAGGATGGGGTAGAGGGGGACAGCGGCGACATTGAGACCTGACTCCTTTCTTTTCCACTTAGCGCTCCTCCCAGCAGCCACTCAGGGAAAGAAAGTGGTGCTGGGCAAAAAAGGGGATACAGTGGAACTGACCTGTACAGCTTCCCAGAAGAAGAGCATACAATTCCACTGGAAAAACTCCAACCAGATAAAGATTCTGGGAAATCAGGGCTCCTTCTTAACTAAAGGTAGGGTTGCCTGGCTCCCCATCCAGGGAGGAAAACACACTATGGAGTGAAAGCCTTTGGTGTCTGAGATCTGGTCTTAGTTAAACTCTGGGATCCCAGAGGGCTTGGGTTGACAGAAACTCAGTGGCATTCTTATCCAGAGTTTCTCTACACCAACTGCTGGTGGCCCAGGGAAAGGTGGTATGTGAATTTCAATATTTTAATATTTAATATTCATGAACTTATTTTAGTGAGTTTTAGAACAATCACTATCACTTAAAACCCGTGATTTCTTGAGTATTGTTGCTACAGACCTATGTAGATAATACTTTGCACAGTGACTCATATGTATAATCCTAGCACTGTGGGAGGCTGAGGCCGGAGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGAACAACATAGTGAGACTCTGTCTCTATGAAAAAAAATATATATATATTTTTTTTGGAGACAAGGTCTAGTTCTATCACCCAGGCTCCAGTGCAGTGGTGTGATCTCGGCTCACTGCAATCTCCACCTCCCAGGCTCAAGTCATCATCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCAGGCTAATTTTTGTATTTTTTATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCATGAGCTCAAGTGATCCACTCACCTTGGCCTCTCAGAGTGCTGGAATTACAGGTGTGTGTCACTATGCCTAGCCAAAAAAAATTTTTTTAATTAAAAAAAAAAAGGCCGGCTGTAGTGGCTCACACCTGTAATCCAGAACTTTGGGAGTTTGAGGTGGGCAGATCACCGGNGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGGGGTGCAGTCCTGTACTTCCAGCTACTCAGGAGGCTGAGGCAGGAGACTCGCTTGAACCTGGGAGGCAAAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAAAAAAAGCTGCANATTTATTATTATTATTATTAGTTTATTTATTTATTTTTTTGAGACAGAGTCTCGTTCTGTCGCCCAGGCTGGAGTGCGGTGGCGTGATCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTATGCCACCATGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACAGAGTTTCACGGTGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATTTACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACTGTGCCCGGCCCAGAATCATTTTTTTCTACTTTTTTTTTTTTGAGGCAAACTCTCGATCTGTTGCCCAGGCTGGAGTGCAGTGGGCATGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCGGCTAATTTGCGTATTTTTAGTAGAGACCGGTTTTCATCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATTCTCCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGCACTTGGCCTTTTCTCCTGGTT
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Task1_train_17073
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This variant impacts the gene CDCA3, GNB3 (cell division cycle associated 3| G protein subunit beta 3) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Congenital stationary night blindness 1H
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ACATCATGTTTCTTTACCCCTTAAGTACTTCCCGAAACAAAGCCCTTCTGTAGCATAATCACTGTATGATTCTTAAGATCAGGAAACTCAACATTGACACAATACTACAGTCTACAGTCTATATTCAAATTTCACCAATAGCCTCAAAAATGTCCATAATAGCTCATGTTTTTTTCTGTCCAGGATCCAATCCAGAAACGTGCATTACCTTTCCTCGCCATATCTTTTTCGTCACCACCTTTAAACTGGAACTGTTTTCCCACCTTTGTCTTTTATGTCATTGACGTTTTTGAAGAGTACAAACCAGTTTTCTGTAGACTCTCCCTCCGTTTGAGCTTATCTGACATTTGCTCGCCGTGAGATCCAGGCCTTGCATTTGTACTGGACCCTGTTCTTACACACCCTGATCCAGCCCACTTGTGTAGTCTGGGAGTCTGGGACAACCTCCGTCCGCCCTTCTAGCCGGGTCACTGCAGGCAAGCCTTGGTGCTCTTGCCTGCGACGTGGAAATGATGCCTGCCTGCAGCGCTGTATAGTGCAGAGCGGGCGAGGGGCATAGGGAAGTCACTGGCACGTGGTATGTGTTGGCAGGGCTGCTTCTCACCCCAAACCAAGGGAGGGACAGGCAGGGAGGCTGAGAGCAGCGGCTTGCCCTGGAGCTGTCAGGTGGGAGGCAGAGGGCGGGAGAGGCTGTGGGCTGCCCAGGTCTGATCCCTGACCCACTTGCCACCCGTGCCCTCAGTTCTTCCCCAATGGAGAGGCCATCTGCACGGGCTCGGATGACGCTTCCTGCCGCTTGTTTGACCTGCGGGCAGACCAGGAGCTGATCTGCTTCTCCCACGAGAGCATCATCTGCGGCATCACGTCCGTGGCCTTCTCCCTCAGTGGCCGCCTACTATTCGCTGGCTACGACGACTTCAACTGCAATGTCTGGGACTCCATGAAGTCTGAGCGTGTGGGTAAGGGCCAGCCCTGGCTGCTGCTTCCTCAGCTGGAAGGACCCTCCCCAGCCCTCCCTCCCCATTCTGTACCCCCCATCAGCTCCCATTTCGGACTCTCTTACTGCTGTCCCTTGTCACTGGGTGACTCCACCCCTGGAATCCAGTACCCCTTGGTTCCCAACTAGGACTGTTTTCCCTCAGTGTTGCTCTAAGCAGCCTCTCTCCACTGCCCAATGCCATGACTGCTCCCTGCCCTAGGAGATCTGTGGACCATGACTGTCCAGTCAGTTCTGGGTTCCTGGCATTTCAGGGGCACCCACTGAGAGGCAAGACAGCCTCAGGGAAACATGGAATCAAGGCAGAATCAAGGAGATCTGGAGTGGCCCGAGGGCCCTGACTGCAGCCTAGGGCTCATCTAAGACTAGCCTGAAGTTGGTCAGATAGGATGGCTTCTTCTCTATCAAGAGGCCAGGTGCTGATGAAAATAACACTGGCCAGGGGCAGAATCCAAATCCTAATTCTGTTGCTCACTTTCTGAGTGTCCTTGCACAAGTCACTCCTCCATGGGCCTCAGTTTCTTCATCTGGAAGCAAAGAAATAGGATGAACGGTTGCCTTCTCTTTTCCAGCACCTGTCAAGGTGCCCTCGGGTTTTTTCATAGTACACAGATGCTTCCAGCCTTTCTCTGTCTGATCCCAGCCCTCCCCCAACCAAAGCTCTTGACAGAGAACCCCCTGCCCTACAGCTAATCCTCTTTCAGTCTCTTAGCCTTCTTCAGGGGTTGAGCCCAGTCTACCGAGTCTAGGATCCCTGCATGCATGTGCTCAAGCACACATGCACACACACACGTACACACACCCACACATGCATACACATGCACACATATCCCCCCACACACCCACATACACACACACACCCACACACCCACACATACACTTACACGCATGCACACACTGCTTTCCAAATCAGCTTGGAGAGACAGGCTGACTCCTTTCCCTCTTCCTCAGGCATCCTCTCTGGCCACGATAACAGGGTGAGCTGCCTGGGAGTCACAGCTGACGGGATGGCTGTGGCCACAGGTTCCTGGGACAGCTTCCTCAAAATCTGGAACTGAGGAGGCTGGAGAAAGGGAAGTGGAAGGCAGTGAACACACTCAGCAGCCCCCTGCCCGACCCCATCTCATTCAGGTGTTCTCTTCTATATTCCGGGTGCCATTCCCACTAAGCTTTCTCCTTTGAGGGCAGTGGGGAGCATGGGACTGTGCCTTTGGGAGGCAGCATCAGGGACACAGGGGCAAAGAACTGCCCCATCTCCTCCCATGGCCTTCCCTCCCCACAGTCCTCACAGCCTCTCCCTTAATGAGCAAGGACAACCTGCCCCTCCCCAGCCCTTTGCAGGCCCAGCAGACTTGAGTCTGAGGCCCCAGGCCCTAGGATTCCTCCCCCAGAGCCACTACCTTTGTCCAGGCCTGGGTGGTATAGGGCGTTTGGCCCTGTGACTATGGCTCTGGCACCACTAGGGTCCTGGCCCTCTTCTTATTCATGCTTTCTCCTTTTTCTACCTTTTTTTCTCTCCTAAGACACCTGCAATAAAGTGTAGCACCCTGGTACATCTGTGATGTTTGCCTTCTACTCTCTTCTGTTCCAAAAAGACCCAGGTCCCATTTAAGGGCAGTAATGTGTTACAGGTGCTGTGATAAAGGCTGGGTACTGGATAGCTTGTGGGCTTATGGGAGGAGGCCTGAGATGGGTCAGGGGGAGAAGGTATTCAGCAGGTGGCTGGGGGACTGTGTGCAGCAGTTCGCTATGGCCTGCCTGTGGTGCCCATGTGTTTGTACGGGAGGGTTAGCTTGAGAAGGAATCAGATTATAAAAGGTCTTGAATGTCAAGCCAGAGAGTCCAGACTTTTTCCTAAGGGCAATGAGAAGCCATTGAGGAGTTCTGAGCAGAGTAGTAACATGATCAGTTATGCTTCTCAGAAAGATTGCTCCAGATCTTTCAGAAAGAAGCAGTGTAGGTTGATGAAAGGGAGGGACTGGCACTGGGGAAACAAGGTAGGAGGCAGGTGGCAAGAAATGCAAGAGCGACAGGACAGAGGGGTTAGGGAGAGGGATTAGGAAGAGATTAAAGATGTGGAATCAGCTGGAACAGTGGCTCATGCCTGTAATCGCAGAGCCTTGGAAGGCTGAGGCAGAAGGATCTCTTGAGGTCTGGAGTTTGAGACAAGCCTGAGCAACATAGTAAGACCCTGTATCTACAAAAAAAATTAAAAATTACCTGGGCAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTCAGGAGGCTGAGGCAGGCAGATCACTTGAGCCTAGGAGTTTGAAACCAGCCTGGGCAATATGGCAAGACCTCATCTCTATAAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCTCATGCCTATAATCCCAGCTACTGGAGAGGCTGAGACAGGAGAATCGCTTGAGCTCAGGAAGTTGAGGCTGCAGTGAGCTGTGATCGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCAAGACCCTGCCTCTAAAAAACAAGCAAACAAACAAAATGTGGAATCACCAGGATTTAGTGACCAAATGCTAGGATATAGGACATTGGGAGGGAAGGATTCGAGATAATGGCCAAGGTTTGGGTTTGGTGGCTGGGTAGATAATGCTGTCATTCACAAGGATAGGGAAGAGGGAATGAGGAATAGCTTTTGGGGGAAGATCATAAATTCAGTTTTAGACAAACTGACTTTGAAGTACTTATAAAGCAGCTGGATAAAGGTCAGGGTTAGAGAGAGAGACCTGAAAGTTACCAGAATATAGGGAAGTGATAGCTAAAGCCCTAGAAGTAAACACCCAGGGAGAGCAGGGCCAAGGACAGAGCCATAGGGACACCATGGTTAAAGGGAGATGTGCAAAGAAGGCTCAGAGCATCAGTGGGCTCAGGCCAGGGAACGCAAGCTCTCTAGGCCGCCATTCTACACACAGAAAACTCGGTGCAAGGTTTACATATACCTTTTTAAAGTAACATTTAAAATTACTTCCTTTAATATAAAAGAAACACACAAGACACAAAGAAAGCCCAATAAAGCTGTGAGTCCCAGTTTGGTAGCTGAGGAGGAGT
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ACATCATGTTTCTTTACCCCTTAAGTACTTCCCGAAACAAAGCCCTTCTGTAGCATAATCACTGTATGATTCTTAAGATCAGGAAACTCAACATTGACACAATACTACAGTCTACAGTCTATATTCAAATTTCACCAATAGCCTCAAAAATGTCCATAATAGCTCATGTTTTTTTCTGTCCAGGATCCAATCCAGAAACGTGCATTACCTTTCCTCGCCATATCTTTTTCGTCACCACCTTTAAACTGGAACTGTTTTCCCACCTTTGTCTTTTATGTCATTGACGTTTTTGAAGAGTACAAACCAGTTTTCTGTAGACTCTCCCTCCGTTTGAGCTTATCTGACATTTGCTCGCCGTGAGATCCAGGCCTTGCATTTGTACTGGACCCTGTTCTTACACACCCTGATCCAGCCCACTTGTGTAGTCTGGGAGTCTGGGACAACCTCCGTCCGCCCTTCTAGCCGGGTCACTGCAGGCAAGCCTTGGTGCTCTTGCCTGCGACGTGGAAATGATGCCTGCCTGCAGCGCTGTATAGTGCAGAGCGGGCGAGGGGCATAGGGAAGTCACTGGCACGTGGTATGTGTTGGCAGGGCTGCTTCTCACCCCAAACCAAGGGAGGGACAGGCAGGGAGGCTGAGAGCAGCGGCTTGCCCTGGAGCTGTCAGGTGGGAGGCAGAGGGCGGGAGAGGCTGTGGGCTGCCCAGGTCTGATCCCTGACCCACTTGCCACCCGTGCCCTCAGTTCTTCCCCAATGGAGAGGCCATCTGCACGGGCTCGGATGACGCTTCCTGCCGCTTGTTTGACCTGCGGGCAGACCAGGAGCTGATCTGCTTCTCCCACGAGAGCATCATCTGCGGCATCACGTCCGTGGCCTTCTCCCTCAGTGGCCGCCTACTATTCGCTGGCTACGACGACTTCAACTGCAATGTCTGGGACTCCATGAAGTCTGAGCGTGTGGGTAAGGGCCAGCCCTGGCTGCTGCTTCCTCAGCTGGAAGGACCCTCCCCAGCCCTCCCTCCCCATTCTGTACCCCCCATCAGCTCCCATTTCGGACTCTCTTACTGCTGTCCCTTGTCACTGGGTGACTCCACCCCTGGAATCCAGTACCCCTTGGTTCCCAACTAGGACTGTTTTCCCTCAGTGTTGCTCTAAGCAGCCTCTCTCCACTGCCCAATGCCATGACTGCTCCCTGCCCTAGGAGATCTGTGGACCATGACTGTCCAGTCAGTTCTGGGTTCCTGGCATTTCAGGGGCACCCACTGAGAGGCAAGACAGCCTCAGGGAAACATGGAATCAAGGCAGAATCAAGGAGATCTGGAGTGGCCCGAGGGCCCTGACTGCAGCCTAGGGCTCATCTAAGACTAGCCTGAAGTTGGTCAGATAGGATGGCTTCTTCTCTATCAAGAGGCCAGGTGCTGATGAAAATAACACTGGCCAGGGGCAGAATCCAAATCCTAATTCTGTTGCTCACTTTCTGAGTGTCCTTGCACAAGTCACTCCTCCATGGGCCTCAGTTTCTTCATCTGGAAGCAAAGAAATAGGATGAACGGTTGCCTTCTCTTTTCCAGCACCTGTCAAGGTGCCCTCGGGTTTTTTCATAGTACACAGATGCTTCCAGCCTTTCTCTGTCTGATCCCAGCCCTCCCCCAACCAAAGCTCTTGACAGAGAACCCCCTGCCCTACAGCTAATCCTCTTTCAGTCTCTTAGCCTTCTTCAGGGGTTGAGCCCAGTCTACCGAGTCTAGGATCCCTGCATGCATGTGCTCAAGCACACATGCACACACACACGTACACACACCCACACATGCATACACATGCACACATATCCCCCCACACACCCACATACACACACACACCCACACACCCACACATACACTTACACGCATGCACACACTGCTTTCCAAATCAGCTTGGAGAGACAGGCTGACTCCTTTCCCTCTTCCTCAGGCATCCTCTCTGGCCACGATAACAGGGTGAGCTGCCTGGGAGTCACAGCTGACGGGATGGCTGTGGCCACAGGTTCCTGGGACAGCTTCCTCAAAATCTGAAACTGAGGAGGCTGGAGAAAGGGAAGTGGAAGGCAGTGAACACACTCAGCAGCCCCCTGCCCGACCCCATCTCATTCAGGTGTTCTCTTCTATATTCCGGGTGCCATTCCCACTAAGCTTTCTCCTTTGAGGGCAGTGGGGAGCATGGGACTGTGCCTTTGGGAGGCAGCATCAGGGACACAGGGGCAAAGAACTGCCCCATCTCCTCCCATGGCCTTCCCTCCCCACAGTCCTCACAGCCTCTCCCTTAATGAGCAAGGACAACCTGCCCCTCCCCAGCCCTTTGCAGGCCCAGCAGACTTGAGTCTGAGGCCCCAGGCCCTAGGATTCCTCCCCCAGAGCCACTACCTTTGTCCAGGCCTGGGTGGTATAGGGCGTTTGGCCCTGTGACTATGGCTCTGGCACCACTAGGGTCCTGGCCCTCTTCTTATTCATGCTTTCTCCTTTTTCTACCTTTTTTTCTCTCCTAAGACACCTGCAATAAAGTGTAGCACCCTGGTACATCTGTGATGTTTGCCTTCTACTCTCTTCTGTTCCAAAAAGACCCAGGTCCCATTTAAGGGCAGTAATGTGTTACAGGTGCTGTGATAAAGGCTGGGTACTGGATAGCTTGTGGGCTTATGGGAGGAGGCCTGAGATGGGTCAGGGGGAGAAGGTATTCAGCAGGTGGCTGGGGGACTGTGTGCAGCAGTTCGCTATGGCCTGCCTGTGGTGCCCATGTGTTTGTACGGGAGGGTTAGCTTGAGAAGGAATCAGATTATAAAAGGTCTTGAATGTCAAGCCAGAGAGTCCAGACTTTTTCCTAAGGGCAATGAGAAGCCATTGAGGAGTTCTGAGCAGAGTAGTAACATGATCAGTTATGCTTCTCAGAAAGATTGCTCCAGATCTTTCAGAAAGAAGCAGTGTAGGTTGATGAAAGGGAGGGACTGGCACTGGGGAAACAAGGTAGGAGGCAGGTGGCAAGAAATGCAAGAGCGACAGGACAGAGGGGTTAGGGAGAGGGATTAGGAAGAGATTAAAGATGTGGAATCAGCTGGAACAGTGGCTCATGCCTGTAATCGCAGAGCCTTGGAAGGCTGAGGCAGAAGGATCTCTTGAGGTCTGGAGTTTGAGACAAGCCTGAGCAACATAGTAAGACCCTGTATCTACAAAAAAAATTAAAAATTACCTGGGCAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTCAGGAGGCTGAGGCAGGCAGATCACTTGAGCCTAGGAGTTTGAAACCAGCCTGGGCAATATGGCAAGACCTCATCTCTATAAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCTCATGCCTATAATCCCAGCTACTGGAGAGGCTGAGACAGGAGAATCGCTTGAGCTCAGGAAGTTGAGGCTGCAGTGAGCTGTGATCGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCAAGACCCTGCCTCTAAAAAACAAGCAAACAAACAAAATGTGGAATCACCAGGATTTAGTGACCAAATGCTAGGATATAGGACATTGGGAGGGAAGGATTCGAGATAATGGCCAAGGTTTGGGTTTGGTGGCTGGGTAGATAATGCTGTCATTCACAAGGATAGGGAAGAGGGAATGAGGAATAGCTTTTGGGGGAAGATCATAAATTCAGTTTTAGACAAACTGACTTTGAAGTACTTATAAAGCAGCTGGATAAAGGTCAGGGTTAGAGAGAGAGACCTGAAAGTTACCAGAATATAGGGAAGTGATAGCTAAAGCCCTAGAAGTAAACACCCAGGGAGAGCAGGGCCAAGGACAGAGCCATAGGGACACCATGGTTAAAGGGAGATGTGCAAAGAAGGCTCAGAGCATCAGTGGGCTCAGGCCAGGGAACGCAAGCTCTCTAGGCCGCCATTCTACACACAGAAAACTCGGTGCAAGGTTTACATATACCTTTTTAAAGTAACATTTAAAATTACTTCCTTTAATATAAAAGAAACACACAAGACACAAAGAAAGCCCAATAAAGCTGTGAGTCCCAGTTTGGTAGCTGAGGAGGAGT
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Task1_train_17074
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Given this context: Chromosome 12, gene TPI1 (triosephosphate isomerase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Triosephosphate isomerase deficiency
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CAAGGAAAGATGGAGTGAAGAACCCTTCCCTCTCTTTATTCACACAGGAGTGGAGGATTTCCCAAATGTCCCTAACTGGCTAGCTGGCTTCAGGCTGGGACTCAGTCCCTGCAGTTCCTGCCAGGCCTTGCCAGCCGGGGCGAGGGTTGGGATGATCCTGGCGGCCTATGCCTGTGTGGGCTGCCCCTCCCGCTGTGAACCCTGCATTTGTCCCGCAAGTTTTCACTCAGGTAGACTCCCTGGGTACAAGGGTGCCTGCTCAGCAGTCGGGCATGAGCTGCTCCGATGGGCGAAGGAGGTTGTCTATCCCACAGTTGGAGAGGGGCCCTCTCTGCCCCAGTGGGCGATCTGGGCTACGGCCAAGTTGCCACCAGCTAGTTCCGCTTGAAAACCACTTCTGGCCCCGTGGGGGACTCAAGTCGCCAAGCGAGGGTTCCCCTGAGCGCCGGAGCTCACAGGTCTCGCCTTGTCCCGAAAGCCCCGCAATCGAGGCGGAGGCGACCGAGCCCCCGACTCTCCTAGAACGTTGCCACAAGAAGGGGGAACGTCGGAACAGTGCATCATCGGGCGGCGGCCGGGGCGGCGGCAGGAGGGCGGGCGGGGGGCAGGGCTCCGGGGGACTGGGCGGGCCATGGCGGAGGACGGCGAGGAGGCGGAGTTCCACTTCGCGGCGCTCTATATAAGTGGGCAGTGGCCGCGACTGCGCGCAGACACTGACCTTCAGCGCCTCGGCTCCAGCGCCATGGCGCCCTCCAGGAAGTTCTTCGTTGGGGGAAACTGGAAGATGAACGGGCGGAAGCAGAGTCTGGGGGAGCTCATCGGCACTCTGAACGCGGCCAAGGTGCCGGCCGACACCGGTAAGCCCTCGCCGAGGAGGGGTCTGGCCGGGCCGGGGCCGGGGCCGGGGCAGGAGTGGCAGCGCCCTCTCCCGAGGCCCCGAGGCCCCGAGGCCGGTATCCGCGCGGACCTGATGCAGGGCTGTGGGACGAGGGCCGCTGGGGTCCGGGCAGGGGCCTCGCAGCCGCAGCCCCGTCGGTGCGTCGAGGGGGCAGGGCGGAGCACATGATGCCCCTTGGACTATGGGGCAGGTAAGGACGTTTTGGGTCTCCTGGAGGAAGGTGGCCCCGGGGCGCGCACTGGGGCTGTGCCCGCCAGGCGACGGGGTTAGGAGCGGAGCCCGAGGCTCTGCGGGAGACCGGGGGAGGCTGGGCCGCGTGGGCTTCCCGCTCCCTGCGCCCTGGCCTCCCGCGCCGTGCGCCGCCGCACGTAGCCCCAGACTCCTCCCCTTCCTCGCCGGCGTCCGCGTCCCCGCGCCGAGCTGCTCGGGCTCCCTGAGCCCCAGATCTGACCCCTTCCCTTCGGCAACCTGAACGACTCCCGCCTTCCACGGAAGGGACCGAGCCCGTGCCAAACAGGCTGAGCGATTTGGGAGTGAGGAGCCATCCTACCGCTTTCCCCAACCTGGAAACAGCAAAGCGCAAGGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAA
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CAAGGAAAGATGGAGTGAAGAACCCTTCCCTCTCTTTATTCACACAGGAGTGGAGGATTTCCCAAATGTCCCTAACTGGCTAGCTGGCTTCAGGCTGGGACTCAGTCCCTGCAGTTCCTGCCAGGCCTTGCCAGCCGGGGCGAGGGTTGGGATGATCCTGGCGGCCTATGCCTGTGTGGGCTGCCCCTCCCGCTGTGAACCCTGCATTTGTCCCGCAAGTTTTCACTCAGGTAGACTCCCTGGGTACAAGGGTGCCTGCTCAGCAGTCGGGCATGAGCTGCTCCGATGGGCGAAGGAGGTTGTCTATCCCACAGTTGGAGAGGGGCCCTCTCTGCCCCAGTGGGCGATCTGGGCTACGGCCAAGTTGCCACCAGCTAGTTCCGCTTGAAAACCACTTCTGGCCCCGTGGGGGACTCAAGTCGCCAAGCGAGGGTTCCCCTGAGCGCCGGAGCTCACAGGTCTCGCCTTGTCCCGAAAGCCCCGCAATCGAGGCGGAGGCGACCGAGCCCCCGACTCTCCTAGAACGTTGCCACAAGAAGGGGGAACGTCGGAACAGTGCATCATCGGGCGGCGGCCGGGGCGGCGGCAGGAGGGCGGGCGGGGGGCAGGGCTCCGGGGGACTGGGCGGGCCATGGCGGAGGACGGCGAGGAGGCGGAGTTCCACTTCGCGGCGCTCTATATAAGTGGGCAGTGGCCGCGACTGCGCGCAGACACTGACCTTCAGCGCCTCGGCTCCAGCGCCATGGCGCCCTCCAGGAAGTTCTTCGTTGGGGGAAACTGGAAGATGAACGGGCGGAAGCAGAGTCTGGGGGAGCTCATCGGCACTCTGAACGCGGCCAAGGTGCCGGCCGACACCGGTAAGCCCTCGCCGAGGAGGGGTCTGGCCGGGCCGGGGCCGGGGCCGGGGCAGGAGTGGCAGCGCCCTCTCCCGAGGCCCCGAGGCCCCGAGGCCGGTATCCGCGCGGACCTGATGCAGGGCTGTGGGACGAGGGCCGCTGGGGTCCGGGCAGGGGCCTCGCAGCCGCAGCCCCGTCGGTGCGTCGAGGGGGCAGGGCGGAGCACATGATGCCCCTTGGACTATGGGGCAGGTAAGGACGTTTTGGGTCTCCTGGAGGAAGGTGGCCCCGGGGCGCGCACTGGGGCTGTGCCCGCCAGGCGACGGGGTTAGGAGCGGAGCCCGAGGCTCTGCGGGAGACCGGGGGAGGCTGGGCCGCGTGGGCTTCCCGCTCCCTGCGCCCTGGCCTCCCGCGCCGTGCGCCGCCGCACGTAGCCCCAGACTCCTCCCCTTCCTCGCCGGCGTCCGCGTCCCCGCGCCGAGCTGCTCGGGCTCCCTGAGCCCCAGATCTGACCCCTTCCCTTCGGCAACCTGAACGACTCCCGCCTTCCACGGAAGGGACCGAGCCCGTGCCAAACAGGCTGAGCGATTTGGGAGTGAGGAGCCATCCTACCGCTTTCCCCAACCTGGAAACAGCAAAGCGCAAGGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTATGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAA
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Task1_train_17075
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The gene TPI1 (triosephosphate isomerase 1) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Triosephosphate isomerase deficiency
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CCGAGGAGGGGTCTGGCCGGGCCGGGGCCGGGGCCGGGGCAGGAGTGGCAGCGCCCTCTCCCGAGGCCCCGAGGCCCCGAGGCCGGTATCCGCGCGGACCTGATGCAGGGCTGTGGGACGAGGGCCGCTGGGGTCCGGGCAGGGGCCTCGCAGCCGCAGCCCCGTCGGTGCGTCGAGGGGGCAGGGCGGAGCACATGATGCCCCTTGGACTATGGGGCAGGTAAGGACGTTTTGGGTCTCCTGGAGGAAGGTGGCCCCGGGGCGCGCACTGGGGCTGTGCCCGCCAGGCGACGGGGTTAGGAGCGGAGCCCGAGGCTCTGCGGGAGACCGGGGGAGGCTGGGCCGCGTGGGCTTCCCGCTCCCTGCGCCCTGGCCTCCCGCGCCGTGCGCCGCCGCACGTAGCCCCAGACTCCTCCCCTTCCTCGCCGGCGTCCGCGTCCCCGCGCCGAGCTGCTCGGGCTCCCTGAGCCCCAGATCTGACCCCTTCCCTTCGGCAACCTGAACGACTCCCGCCTTCCACGGAAGGGACCGAGCCCGTGCCAAACAGGCTGAGCGATTTGGGAGTGAGGAGCCATCCTACCGCTTTCCCCAACCTGGAAACAGCAAAGCGCAAGGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAAAAAACAAGAACAGGTTTCTATAACAACATCTCTTACTATTTTTACTTGAAAAAATGTTTTGCGTAGCAGACTGTCATAGCCTTGAACGCCGGCTCCCTTTCTTCCTCCCTCCAAGTGGCTCTGGGGCTGTTGATTTCCGCAGAGCTTGGGTTGGGGTAGGGGCTCAGCCTCACCAGCTTTCAGCAGCTGGTCTAGGCCAGCAGTGCCTCCCCACCTCCCCAAGGGGAGGGGTGGTGGCAAGACCTCAGCACAGTCTGTGGTATCACAGGGCTCACTGGTAGAGCAGGTAGCGCTTCATGGCAGGGGGCAAGGGCAGGGCAGACACCTGGCCGAGCCGGGTATCCCCCAGGTTGTGGCGCACACACAGGCGGCTCAGGTGCAGAAGGGAGTGTGGCTCCGCTGGGAGAGAGAAGGAGGGGAATGTAAGTATGGGTGCAGCCACCAGCCAGATGTCCTCAAACTACGGGGTCCTACTCAGATGCCTTTCTGCTTTCCTGCTTCGAGTGTGCCCACCTGGCTGAAAGGGGAATTTGAGATACCCGGAAGTTCTGCCTCCCAGATAAGATTTCACACATCCCTAGTCAGAGCTGGGGGTGAAGAGCTGGCTAAGGCCCTCTAAACAACAGGCCAAGGTGGCTCTGACAGTGGTGGAGCTGGCCCAGGCTTTGACTCCAGAGGCTTGGGAGCTGGGGCTGAGGTGAGGAGGGATGGCCCTCCACTCTACAGCCCACACAACTGCAGAGAGCAGCTCCAAGCCCTGGACCCAGTCAGTTCCTGGGGAGGCTCCTCCCCTGCTGCCCCACCCTAAGGCCCTGCCTCCTCCACTGCTCTCCTCCCTGGTGCCCAGGGCCCCAGTGTCTCCATCCAG
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CCGAGGAGGGGTCTGGCCGGGCCGGGGCCGGGGCCGGGGCAGGAGTGGCAGCGCCCTCTCCCGAGGCCCCGAGGCCCCGAGGCCGGTATCCGCGCGGACCTGATGCAGGGCTGTGGGACGAGGGCCGCTGGGGTCCGGGCAGGGGCCTCGCAGCCGCAGCCCCGTCGGTGCGTCGAGGGGGCAGGGCGGAGCACATGATGCCCCTTGGACTATGGGGCAGGTAAGGACGTTTTGGGTCTCCTGGAGGAAGGTGGCCCCGGGGCGCGCACTGGGGCTGTGCCCGCCAGGCGACGGGGTTAGGAGCGGAGCCCGAGGCTCTGCGGGAGACCGGGGGAGGCTGGGCCGCGTGGGCTTCCCGCTCCCTGCGCCCTGGCCTCCCGCGCCGTGCGCCGCCGCACGTAGCCCCAGACTCCTCCCCTTCCTCGCCGGCGTCCGCGTCCCCGCGCCGAGCTGCTCGGGCTCCCTGAGCCCCAGATCTGACCCCTTCCCTTCGGCAACCTGAACGACTCCCGCCTTCCACGGAAGGGACCGAGCCCGTGCCAAACAGGCTGAGCGATTTGGGAGTGAGGAGCCATCCTACCGCTTTCCCCAACCTGGAAACAGCAAAGCGCAAGGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCGTTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAAAAAACAAGAACAGGTTTCTATAACAACATCTCTTACTATTTTTACTTGAAAAAATGTTTTGCGTAGCAGACTGTCATAGCCTTGAACGCCGGCTCCCTTTCTTCCTCCCTCCAAGTGGCTCTGGGGCTGTTGATTTCCGCAGAGCTTGGGTTGGGGTAGGGGCTCAGCCTCACCAGCTTTCAGCAGCTGGTCTAGGCCAGCAGTGCCTCCCCACCTCCCCAAGGGGAGGGGTGGTGGCAAGACCTCAGCACAGTCTGTGGTATCACAGGGCTCACTGGTAGAGCAGGTAGCGCTTCATGGCAGGGGGCAAGGGCAGGGCAGACACCTGGCCGAGCCGGGTATCCCCCAGGTTGTGGCGCACACACAGGCGGCTCAGGTGCAGAAGGGAGTGTGGCTCCGCTGGGAGAGAGAAGGAGGGGAATGTAAGTATGGGTGCAGCCACCAGCCAGATGTCCTCAAACTACGGGGTCCTACTCAGATGCCTTTCTGCTTTCCTGCTTCGAGTGTGCCCACCTGGCTGAAAGGGGAATTTGAGATACCCGGAAGTTCTGCCTCCCAGATAAGATTTCACACATCCCTAGTCAGAGCTGGGGGTGAAGAGCTGGCTAAGGCCCTCTAAACAACAGGCCAAGGTGGCTCTGACAGTGGTGGAGCTGGCCCAGGCTTTGACTCCAGAGGCTTGGGAGCTGGGGCTGAGGTGAGGAGGGATGGCCCTCCACTCTACAGCCCACACAACTGCAGAGAGCAGCTCCAAGCCCTGGACCCAGTCAGTTCCTGGGGAGGCTCCTCCCCTGCTGCCCCACCCTAAGGCCCTGCCTCCTCCACTGCTCTCCTCCCTGGTGCCCAGGGCCCCAGTGTCTCCATCCAG
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Task1_train_17076
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A mutation in TPI1 (triosephosphate isomerase 1), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Triosephosphate isomerase deficiency
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GAGGCTGGGCCGCGTGGGCTTCCCGCTCCCTGCGCCCTGGCCTCCCGCGCCGTGCGCCGCCGCACGTAGCCCCAGACTCCTCCCCTTCCTCGCCGGCGTCCGCGTCCCCGCGCCGAGCTGCTCGGGCTCCCTGAGCCCCAGATCTGACCCCTTCCCTTCGGCAACCTGAACGACTCCCGCCTTCCACGGAAGGGACCGAGCCCGTGCCAAACAGGCTGAGCGATTTGGGAGTGAGGAGCCATCCTACCGCTTTCCCCAACCTGGAAACAGCAAAGCGCAAGGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAAAAAACAAGAACAGGTTTCTATAACAACATCTCTTACTATTTTTACTTGAAAAAATGTTTTGCGTAGCAGACTGTCATAGCCTTGAACGCCGGCTCCCTTTCTTCCTCCCTCCAAGTGGCTCTGGGGCTGTTGATTTCCGCAGAGCTTGGGTTGGGGTAGGGGCTCAGCCTCACCAGCTTTCAGCAGCTGGTCTAGGCCAGCAGTGCCTCCCCACCTCCCCAAGGGGAGGGGTGGTGGCAAGACCTCAGCACAGTCTGTGGTATCACAGGGCTCACTGGTAGAGCAGGTAGCGCTTCATGGCAGGGGGCAAGGGCAGGGCAGACACCTGGCCGAGCCGGGTATCCCCCAGGTTGTGGCGCACACACAGGCGGCTCAGGTGCAGAAGGGAGTGTGGCTCCGCTGGGAGAGAGAAGGAGGGGAATGTAAGTATGGGTGCAGCCACCAGCCAGATGTCCTCAAACTACGGGGTCCTACTCAGATGCCTTTCTGCTTTCCTGCTTCGAGTGTGCCCACCTGGCTGAAAGGGGAATTTGAGATACCCGGAAGTTCTGCCTCCCAGATAAGATTTCACACATCCCTAGTCAGAGCTGGGGGTGAAGAGCTGGCTAAGGCCCTCTAAACAACAGGCCAAGGTGGCTCTGACAGTGGTGGAGCTGGCCCAGGCTTTGACTCCAGAGGCTTGGGAGCTGGGGCTGAGGTGAGGAGGGATGGCCCTCCACTCTACAGCCCACACAACTGCAGAGAGCAGCTCCAAGCCCTGGACCCAGTCAGTTCCTGGGGAGGCTCCTCCCCTGCTGCCCCACCCTAAGGCCCTGCCTCCTCCACTGCTCTCCTCCCTGGTGCCCAGGGCCCCAGTGTCTCCATCCAGAGGTGTGGCTGAGGAAGGAAGTAGGTATGTGGCACAGAGACAGGTTAGAGCCCAGGGAATCCGGTATACAGCCTGGGTACCTGGCTCTGCCCATCCTTCTTTTGGACCTGTACATCAAACCCAGTACCTAACGCTTTGCACCTCTTGCTCAGGGGTTGATATCTCCTGAATTCTCTCATCCCTGCAGTTCCTCCCTCCATTCTGAAGGTTCACCATTTACTGGCCAAGAGAACTTGAGAAAGTTGCTTTCTCAAGCCTGTTTCACCTCTATTGCTGTTGGGTTAAATTAAATAACAGCTGTGAAGACCCCTAGCCTTTCCCAGCACTGAACAG
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GAGGCTGGGCCGCGTGGGCTTCCCGCTCCCTGCGCCCTGGCCTCCCGCGCCGTGCGCCGCCGCACGTAGCCCCAGACTCCTCCCCTTCCTCGCCGGCGTCCGCGTCCCCGCGCCGAGCTGCTCGGGCTCCCTGAGCCCCAGATCTGACCCCTTCCCTTCGGCAACCTGAACGACTCCCGCCTTCCACGGAAGGGACCGAGCCCGTGCCAAACAGGCTGAGCGATTTGGGAGTGAGGAGCCATCCTACCGCTTTCCCCAACCTGGAAACAGCAAAGCGCAAGGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCAAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAAAAAACAAGAACAGGTTTCTATAACAACATCTCTTACTATTTTTACTTGAAAAAATGTTTTGCGTAGCAGACTGTCATAGCCTTGAACGCCGGCTCCCTTTCTTCCTCCCTCCAAGTGGCTCTGGGGCTGTTGATTTCCGCAGAGCTTGGGTTGGGGTAGGGGCTCAGCCTCACCAGCTTTCAGCAGCTGGTCTAGGCCAGCAGTGCCTCCCCACCTCCCCAAGGGGAGGGGTGGTGGCAAGACCTCAGCACAGTCTGTGGTATCACAGGGCTCACTGGTAGAGCAGGTAGCGCTTCATGGCAGGGGGCAAGGGCAGGGCAGACACCTGGCCGAGCCGGGTATCCCCCAGGTTGTGGCGCACACACAGGCGGCTCAGGTGCAGAAGGGAGTGTGGCTCCGCTGGGAGAGAGAAGGAGGGGAATGTAAGTATGGGTGCAGCCACCAGCCAGATGTCCTCAAACTACGGGGTCCTACTCAGATGCCTTTCTGCTTTCCTGCTTCGAGTGTGCCCACCTGGCTGAAAGGGGAATTTGAGATACCCGGAAGTTCTGCCTCCCAGATAAGATTTCACACATCCCTAGTCAGAGCTGGGGGTGAAGAGCTGGCTAAGGCCCTCTAAACAACAGGCCAAGGTGGCTCTGACAGTGGTGGAGCTGGCCCAGGCTTTGACTCCAGAGGCTTGGGAGCTGGGGCTGAGGTGAGGAGGGATGGCCCTCCACTCTACAGCCCACACAACTGCAGAGAGCAGCTCCAAGCCCTGGACCCAGTCAGTTCCTGGGGAGGCTCCTCCCCTGCTGCCCCACCCTAAGGCCCTGCCTCCTCCACTGCTCTCCTCCCTGGTGCCCAGGGCCCCAGTGTCTCCATCCAGAGGTGTGGCTGAGGAAGGAAGTAGGTATGTGGCACAGAGACAGGTTAGAGCCCAGGGAATCCGGTATACAGCCTGGGTACCTGGCTCTGCCCATCCTTCTTTTGGACCTGTACATCAAACCCAGTACCTAACGCTTTGCACCTCTTGCTCAGGGGTTGATATCTCCTGAATTCTCTCATCCCTGCAGTTCCTCCCTCCATTCTGAAGGTTCACCATTTACTGGCCAAGAGAACTTGAGAAAGTTGCTTTCTCAAGCCTGTTTCACCTCTATTGCTGTTGGGTTAAATTAAATAACAGCTGTGAAGACCCCTAGCCTTTCCCAGCACTGAACAG
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Task1_train_17077
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An alteration has been detected in TPI1 (triosephosphate isomerase 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Triosephosphate isomerase deficiency
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GGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAAAAAACAAGAACAGGTTTCTATAACAACATCTCTTACTATTTTTACTTGAAAAAATGTTTTGCGTAGCAGACTGTCATAGCCTTGAACGCCGGCTCCCTTTCTTCCTCCCTCCAAGTGGCTCTGGGGCTGTTGATTTCCGCAGAGCTTGGGTTGGGGTAGGGGCTCAGCCTCACCAGCTTTCAGCAGCTGGTCTAGGCCAGCAGTGCCTCCCCACCTCCCCAAGGGGAGGGGTGGTGGCAAGACCTCAGCACAGTCTGTGGTATCACAGGGCTCACTGGTAGAGCAGGTAGCGCTTCATGGCAGGGGGCAAGGGCAGGGCAGACACCTGGCCGAGCCGGGTATCCCCCAGGTTGTGGCGCACACACAGGCGGCTCAGGTGCAGAAGGGAGTGTGGCTCCGCTGGGAGAGAGAAGGAGGGGAATGTAAGTATGGGTGCAGCCACCAGCCAGATGTCCTCAAACTACGGGGTCCTACTCAGATGCCTTTCTGCTTTCCTGCTTCGAGTGTGCCCACCTGGCTGAAAGGGGAATTTGAGATACCCGGAAGTTCTGCCTCCCAGATAAGATTTCACACATCCCTAGTCAGAGCTGGGGGTGAAGAGCTGGCTAAGGCCCTCTAAACAACAGGCCAAGGTGGCTCTGACAGTGGTGGAGCTGGCCCAGGCTTTGACTCCAGAGGCTTGGGAGCTGGGGCTGAGGTGAGGAGGGATGGCCCTCCACTCTACAGCCCACACAACTGCAGAGAGCAGCTCCAAGCCCTGGACCCAGTCAGTTCCTGGGGAGGCTCCTCCCCTGCTGCCCCACCCTAAGGCCCTGCCTCCTCCACTGCTCTCCTCCCTGGTGCCCAGGGCCCCAGTGTCTCCATCCAGAGGTGTGGCTGAGGAAGGAAGTAGGTATGTGGCACAGAGACAGGTTAGAGCCCAGGGAATCCGGTATACAGCCTGGGTACCTGGCTCTGCCCATCCTTCTTTTGGACCTGTACATCAAACCCAGTACCTAACGCTTTGCACCTCTTGCTCAGGGGTTGATATCTCCTGAATTCTCTCATCCCTGCAGTTCCTCCCTCCATTCTGAAGGTTCACCATTTACTGGCCAAGAGAACTTGAGAAAGTTGCTTTCTCAAGCCTGTTTCACCTCTATTGCTGTTGGGTTAAATTAAATAACAGCTGTGAAGACCCCTAGCCTTTCCCAGCACTGAACAGAGGTTGAGGCAGGCTGGATGAAGGTCCATCCCCTCTGCTCTTGTCAGAAGAGTTTCCATCCCAAACCACTGCCACCAGGGACAGAAAGTTCTCCCCACGTCTGCCCCAGGCCTCACCTCTCCTTTCGCCCAGGTAGCGGATGCGGACCTGGCACTGGCCCCAGACAGCGCTTACTGCCGGATAGAGGGTCCTGCCCTTCAGTCCGCGGAATGCTGGCCCCAGGTAGGTGCCCCCAATAGCGTAGCCCAGAGTTCCCTCCTCCATGTCCAGAACCACCAGC
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GGCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAACTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAAAAAACAAGAACAGGTTTCTATAACAACATCTCTTACTATTTTTACTTGAAAAAATGTTTTGCGTAGCAGACTGTCATAGCCTTGAACGCCGGCTCCCTTTCTTCCTCCCTCCAAGTGGCTCTGGGGCTGTTGATTTCCGCAGAGCTTGGGTTGGGGTAGGGGCTCAGCCTCACCAGCTTTCAGCAGCTGGTCTAGGCCAGCAGTGCCTCCCCACCTCCCCAAGGGGAGGGGTGGTGGCAAGACCTCAGCACAGTCTGTGGTATCACAGGGCTCACTGGTAGAGCAGGTAGCGCTTCATGGCAGGGGGCAAGGGCAGGGCAGACACCTGGCCGAGCCGGGTATCCCCCAGGTTGTGGCGCACACACAGGCGGCTCAGGTGCAGAAGGGAGTGTGGCTCCGCTGGGAGAGAGAAGGAGGGGAATGTAAGTATGGGTGCAGCCACCAGCCAGATGTCCTCAAACTACGGGGTCCTACTCAGATGCCTTTCTGCTTTCCTGCTTCGAGTGTGCCCACCTGGCTGAAAGGGGAATTTGAGATACCCGGAAGTTCTGCCTCCCAGATAAGATTTCACACATCCCTAGTCAGAGCTGGGGGTGAAGAGCTGGCTAAGGCCCTCTAAACAACAGGCCAAGGTGGCTCTGACAGTGGTGGAGCTGGCCCAGGCTTTGACTCCAGAGGCTTGGGAGCTGGGGCTGAGGTGAGGAGGGATGGCCCTCCACTCTACAGCCCACACAACTGCAGAGAGCAGCTCCAAGCCCTGGACCCAGTCAGTTCCTGGGGAGGCTCCTCCCCTGCTGCCCCACCCTAAGGCCCTGCCTCCTCCACTGCTCTCCTCCCTGGTGCCCAGGGCCCCAGTGTCTCCATCCAGAGGTGTGGCTGAGGAAGGAAGTAGGTATGTGGCACAGAGACAGGTTAGAGCCCAGGGAATCCGGTATACAGCCTGGGTACCTGGCTCTGCCCATCCTTCTTTTGGACCTGTACATCAAACCCAGTACCTAACGCTTTGCACCTCTTGCTCAGGGGTTGATATCTCCTGAATTCTCTCATCCCTGCAGTTCCTCCCTCCATTCTGAAGGTTCACCATTTACTGGCCAAGAGAACTTGAGAAAGTTGCTTTCTCAAGCCTGTTTCACCTCTATTGCTGTTGGGTTAAATTAAATAACAGCTGTGAAGACCCCTAGCCTTTCCCAGCACTGAACAGAGGTTGAGGCAGGCTGGATGAAGGTCCATCCCCTCTGCTCTTGTCAGAAGAGTTTCCATCCCAAACCACTGCCACCAGGGACAGAAAGTTCTCCCCACGTCTGCCCCAGGCCTCACCTCTCCTTTCGCCCAGGTAGCGGATGCGGACCTGGCACTGGCCCCAGACAGCGCTTACTGCCGGATAGAGGGTCCTGCCCTTCAGTCCGCGGAATGCTGGCCCCAGGTAGGTGCCCCCAATAGCGTAGCCCAGAGTTCCCTCCTCCATGTCCAGAACCACCAGC
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Task1_train_17078
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Consider a variant on Chromosome 12 in gene TPI1 (triosephosphate isomerase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Triosephosphate isomerase deficiency
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GCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATTCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAAAAAACAAGAACAGGTTTCTATAACAACATCTCTTACTATTTTTACTTGAAAAAATGTTTTGCGTAGCAGACTGTCATAGCCTTGAACGCCGGCTCCCTTTCTTCCTCCCTCCAAGTGGCTCTGGGGCTGTTGATTTCCGCAGAGCTTGGGTTGGGGTAGGGGCTCAGCCTCACCAGCTTTCAGCAGCTGGTCTAGGCCAGCAGTGCCTCCCCACCTCCCCAAGGGGAGGGGTGGTGGCAAGACCTCAGCACAGTCTGTGGTATCACAGGGCTCACTGGTAGAGCAGGTAGCGCTTCATGGCAGGGGGCAAGGGCAGGGCAGACACCTGGCCGAGCCGGGTATCCCCCAGGTTGTGGCGCACACACAGGCGGCTCAGGTGCAGAAGGGAGTGTGGCTCCGCTGGGAGAGAGAAGGAGGGGAATGTAAGTATGGGTGCAGCCACCAGCCAGATGTCCTCAAACTACGGGGTCCTACTCAGATGCCTTTCTGCTTTCCTGCTTCGAGTGTGCCCACCTGGCTGAAAGGGGAATTTGAGATACCCGGAAGTTCTGCCTCCCAGATAAGATTTCACACATCCCTAGTCAGAGCTGGGGGTGAAGAGCTGGCTAAGGCCCTCTAAACAACAGGCCAAGGTGGCTCTGACAGTGGTGGAGCTGGCCCAGGCTTTGACTCCAGAGGCTTGGGAGCTGGGGCTGAGGTGAGGAGGGATGGCCCTCCACTCTACAGCCCACACAACTGCAGAGAGCAGCTCCAAGCCCTGGACCCAGTCAGTTCCTGGGGAGGCTCCTCCCCTGCTGCCCCACCCTAAGGCCCTGCCTCCTCCACTGCTCTCCTCCCTGGTGCCCAGGGCCCCAGTGTCTCCATCCAGAGGTGTGGCTGAGGAAGGAAGTAGGTATGTGGCACAGAGACAGGTTAGAGCCCAGGGAATCCGGTATACAGCCTGGGTACCTGGCTCTGCCCATCCTTCTTTTGGACCTGTACATCAAACCCAGTACCTAACGCTTTGCACCTCTTGCTCAGGGGTTGATATCTCCTGAATTCTCTCATCCCTGCAGTTCCTCCCTCCATTCTGAAGGTTCACCATTTACTGGCCAAGAGAACTTGAGAAAGTTGCTTTCTCAAGCCTGTTTCACCTCTATTGCTGTTGGGTTAAATTAAATAACAGCTGTGAAGACCCCTAGCCTTTCCCAGCACTGAACAGAGGTTGAGGCAGGCTGGATGAAGGTCCATCCCCTCTGCTCTTGTCAGAAGAGTTTCCATCCCAAACCACTGCCACCAGGGACAGAAAGTTCTCCCCACGTCTGCCCCAGGCCTCACCTCTCCTTTCGCCCAGGTAGCGGATGCGGACCTGGCACTGGCCCCAGACAGCGCTTACTGCCGGATAGAGGGTCCTGCCCTTCAGTCCGCGGAATGCTGGCCCCAGGTAGGTGCCCCCAATAGCGTAGCCCAGAGTTCCCTCCTCCATGTCCAGAACCACCAGCA
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GCCTCTGAGTCAGTTAGGTCTCTGCCACCCACGGGCAAAGGATGCTCTCCTCCATCCTCCTTCCTCCCTCCACCGAAATCGGAGAGCCGCGGGCCTGATCCAAAGAGGCATCCCCTTCTCGTTCATTCCCCAGAGGCCTCAATACAAACCCCAGGAGTTGGCCCCTCTCCTTTTGCTACAAATCCTTGCCTTGCAAAGGGGAGGTGAGGATGGGCTATTTTAGAAGGGAAGCAGGGTTGCTCCCTGGAGAATGCTGAGTCTGTGAGGTGCCTATGCCGAGAATAGCTCGAGGAAATTGGAGCCCCAGCTGTTAAAAGAGCAGAGGGCAGGGTGAGGGCCGTGGCCTCTCAGGGGTATCTGGAAGGCTCTTCGAGTTGAGTGCAGACCCAGCCTGGGCTGGAAAATGGACAAAGGTCATCTTGCTGGGGTGAAAAGGGGGAGAGCAGAACCAAGAAGAAGAGGGTGAGGGCTGGGGGGCTCCAGGGCACTGGTTAGGAATTGTGGGGAATGAAGGCTTTCTTTAGTCTCATCCCCCTGTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGCCCGGCAGAAGCTAGATCCCAAGATTGCTGTGGCTGCGCAGAACTGCTACAAAGTGACTAATGGGGCTTTTACTGGGGAGATCAGGTGAGATCGAGGTGGAGAGGGGTGTGTGGGACCCTTCCCTCACTTTCCTCGTTGAGGGGAAAGCCACAGGGTGGGCTCCCTGCTGAACCTTGGCTTCATCTCTTCCTTTAGCCCTGGCATGATCAAAGACTGCGGAGCCACGTGGGTGGTCCTGGGGCACTCAGAGAGAAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAGAGAGAAGATAAGGGATGTCTTTTTCCAAGAAGGATGTCTCACCAAGTCTGTTTCTCAACAGCTGATTGGGCAGAAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAGATGAAAGGGAAGCTGGCATCACTGAGAAGGTTGTTTTCGAGCAGACAAAGGTCATCGCAGGTATCTCTGGAGAAAGGGACCTTTGAGCCTATCCAGGGCCACAGAGACTCAGAGGGTAGGGTCAGGCCCTGGAGCCTGTCTTGGTCCCCATGCTGATCCAGAAAAGGAAAAAGGGGAGGGGGAGTGACAATCTTTGCTTGGGGCCTATGACTTCTCCAGCCCCAAGGTAGATGCCACCTGGAAATCCCCCAATGTCCACTAGGGGGCAGTAGGCCACCGTTCTTCGTACTCCGGAGAACCTGGCTGGAGAGCTCTTTCTTGTTCACCCTTCCCTCCATCTGTATCTCTGCCCTGCAGATAACGTGAAGGACTGGAGCAAGGTCGTCCTGGCCTATGAGCCTGTGTGGGCCATTGGTACTGGCAAGACTGCAACACCCCAACAGGTAACCGGGCCCAGGAGCCCTGCCCTCATCCCAGCCTGCCTCAATAGGTTTGGACAGACACAGCCCACATGGGGCAACCCCTTATTTCAAAGACACAGAGACCTTGAACCCAGAGACAGTGACTTGTCCAAGGGCATCCAGTCCAGGGCCTGGCTTGGATCAGAGCCCTGGTACTCTGACTCAGTCAGAAACCACACTAAGTGTCCACTGGTGCCAGTGATTTTTCCTCTTAGAGAGGCAGAAAAGGTCTTACTTAGGCCAGCTTCTTGTTCTAGGCCCAGGAAGTACACGAGAAGCTCCGAGGATGGCTGAAGTCCAACGTCTCTGATGCGGTGGCTCAGAGCACCCGTATCATTTATGGAGGTGAGTGGCTTTGGTTCCCGGCTGAGGTGGAGTGGGCTGAGGACTAGACTGAGCCCTCGGACATGGAGGTGGGGATGGGGCAGACTCATCCCATTCTTGACCAAGCCCTTGTTCTGCTCCCTTCCCAGGCTCTGTGACTGGGGCAACCTGCAAGGAGCTGGCCAGCCAGCCTGATGTGGATGGCTTCCTTGTGGGTGGTGCTTCCCTCAAGCCCGAATCCGTGGACATCATCAATGCCAAACAATGAGCCCCATCCATCTTCCCTACCCTTCCTGCCAAGCCAGGGACTAAGCAGCCCAGAAGCCCAGTAACTGCCCTTTCCCTGCATATGCTTCTGATGGTGTCATCTGCTCCTTCCTGTGGCCTCATCCAAACTGTATCTTCCTTTACTGTTTATATCTTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCACTTACTATAATGGTTGGAACTAAACGTCACCAAGGTGGCTTCTCCTTGGCTGAGAGATGGAAGGCGTGGTGGGATTTGCTCCTGGGTTCCCTAGGCCCTAGTGAGGGCAGAAGAGAAACCATCCTCTCCCTTCTTACACCGTGAGGCCAAGATCCCCTCAGAAGGCAGGAGTGCTGCCCTCTCCCATGGTGCCCGTGCCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGCACTAGGTCTTGTGGTTTGTCTGCCTTCACTGGACTTGCCCAGATAATCTTCCTTTTTGAGGCAGCTATATAAATGATCATTTGTGCAAGAAAAAAAAAAAAACAAGAACAGGTTTCTATAACAACATCTCTTACTATTTTTACTTGAAAAAATGTTTTGCGTAGCAGACTGTCATAGCCTTGAACGCCGGCTCCCTTTCTTCCTCCCTCCAAGTGGCTCTGGGGCTGTTGATTTCCGCAGAGCTTGGGTTGGGGTAGGGGCTCAGCCTCACCAGCTTTCAGCAGCTGGTCTAGGCCAGCAGTGCCTCCCCACCTCCCCAAGGGGAGGGGTGGTGGCAAGACCTCAGCACAGTCTGTGGTATCACAGGGCTCACTGGTAGAGCAGGTAGCGCTTCATGGCAGGGGGCAAGGGCAGGGCAGACACCTGGCCGAGCCGGGTATCCCCCAGGTTGTGGCGCACACACAGGCGGCTCAGGTGCAGAAGGGAGTGTGGCTCCGCTGGGAGAGAGAAGGAGGGGAATGTAAGTATGGGTGCAGCCACCAGCCAGATGTCCTCAAACTACGGGGTCCTACTCAGATGCCTTTCTGCTTTCCTGCTTCGAGTGTGCCCACCTGGCTGAAAGGGGAATTTGAGATACCCGGAAGTTCTGCCTCCCAGATAAGATTTCACACATCCCTAGTCAGAGCTGGGGGTGAAGAGCTGGCTAAGGCCCTCTAAACAACAGGCCAAGGTGGCTCTGACAGTGGTGGAGCTGGCCCAGGCTTTGACTCCAGAGGCTTGGGAGCTGGGGCTGAGGTGAGGAGGGATGGCCCTCCACTCTACAGCCCACACAACTGCAGAGAGCAGCTCCAAGCCCTGGACCCAGTCAGTTCCTGGGGAGGCTCCTCCCCTGCTGCCCCACCCTAAGGCCCTGCCTCCTCCACTGCTCTCCTCCCTGGTGCCCAGGGCCCCAGTGTCTCCATCCAGAGGTGTGGCTGAGGAAGGAAGTAGGTATGTGGCACAGAGACAGGTTAGAGCCCAGGGAATCCGGTATACAGCCTGGGTACCTGGCTCTGCCCATCCTTCTTTTGGACCTGTACATCAAACCCAGTACCTAACGCTTTGCACCTCTTGCTCAGGGGTTGATATCTCCTGAATTCTCTCATCCCTGCAGTTCCTCCCTCCATTCTGAAGGTTCACCATTTACTGGCCAAGAGAACTTGAGAAAGTTGCTTTCTCAAGCCTGTTTCACCTCTATTGCTGTTGGGTTAAATTAAATAACAGCTGTGAAGACCCCTAGCCTTTCCCAGCACTGAACAGAGGTTGAGGCAGGCTGGATGAAGGTCCATCCCCTCTGCTCTTGTCAGAAGAGTTTCCATCCCAAACCACTGCCACCAGGGACAGAAAGTTCTCCCCACGTCTGCCCCAGGCCTCACCTCTCCTTTCGCCCAGGTAGCGGATGCGGACCTGGCACTGGCCCCAGACAGCGCTTACTGCCGGATAGAGGGTCCTGCCCTTCAGTCCGCGGAATGCTGGCCCCAGGTAGGTGCCCCCAATAGCGTAGCCCAGAGTTCCCTCCTCCATGTCCAGAACCACCAGCA
|
Task1_train_17079
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This variant impacts the gene ATN1 (atrophin 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
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CGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCCCTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCGGTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCCAGTCAGTCTGCCAGGTGAGCGGCCAGGTGGGGCGGAGGTGGGCCTGGAAAGGGGACGACGACAAGGCGGCGACGAGAGAGGGAGTAGCAGGGAGGGGCCTTGCGCTGGTGTAGTGTTTTAGAAAAGCACGCCCCTCTCCTCCGTCCAGGCCTAGTGGCCAGTGAGGCCCGCAGCAGCTCACAGCCTGCAGGGGTGGTTTTGAGGCGGGGGCTACAAGCACTCGCCGGGGCCGCGGCGCTGCGGGCTCCATCGGGCAGCTCGCACCGCCTGAGCGCCCGCTGCTTCCACGCCCGGCAGGTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGCGACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTGGAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAGCGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTGGTGAGTGCGTCACTGCCTGCGCCACCGCCTTCTTTCCCTCTTTCCTTCCTTCCCTCTGCGCTGCGCTGCGCTACGCTACGCTGCGGGGCTGTGGCTGGGTGGGCGGGCGAGTCACGTCGCCACCTGTCGGAGGGGAGGTACCACTGCAGCCCAGGAAATGGAGCCCAAAAGGTTTTCAGCGAGAGCCATCTGCATTCCTGGGTTGGGAAAAGGCATGCTCAGATGGGACTACCTGTGGATCCCAAGAAGGGCAAATATTCGGGAGCGGGGGCCGCAGTTAAGTTCCAGGTGGGCAGAGTTTCAATGAGTTGAGGCATTTTGGCATTCGGCTGTCGAAACAAATGGGCAGCTTAAAACCAGCCACCTCTTTTCATAACTGCCGCTTTGACTCCACTTTTCCCTGTATCCCACAGAAGTTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGCCCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACTCCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGCAACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTCCCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGAGACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTACATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAGCCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGAGAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGGCTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCCCGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGCACTCCCACATCCACTCGCACCTGCACCTGCACCAGCAAGATGCTATCCATGCAGGTGAGACCCCTCCTTCCTTGCCCTGGCCCTTTGGGGCCACCTTCCCCCTATCATGACTGGGCTCTTTCATTCCTATGGCCAAGACTTTCCTCCCCTGGCCTGGCATGAACCTTTCCTGAGATTGCTGCCCTGAACTTTGCCTCCCTGACGTTCTCTCAGCCTTGTCTTCTCATGGCCTTCCCTGGCCACAAAGCCTGTATGCCCCACAGCCCAGTTCTCTCCATAGTCTAGTATCCTTCCCATGACAGAGGCCCACACGGGAGCTTTTGAAGGACACTTTTCTATTCTCACAGCCCCATTCTCCCAAGCCCTTCACAAACCTGTCTTCTTATTTATTTTTTTGAGACATGGTCTGGCTCTGCCACCCAGGCTGGAGTGTAGTGGCGCAATCACAGCTCACTGCAGCCTCGACTTCCCGGTCTCAAGTGATCCTCCTACCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGTGTGTCACCATACCTGGCTACTTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGGCCATGGCTGGTCTCAAATTCCTGAGCTCAAAGCGATCCACCCACCTCGGCCTCCCAAAGTCCTGAGATTACAGGCGTGAGCCACCGTGCCCAACCCACAAACCTATCTTCTGATTTCTCTGGATTCAACTCATTTTTTGCCATTTTCTCCTCTTCTCCCTCTGCGAGGTCTTTCATGTTTTTCCCCATCTCTAGATCTGTAACTTTCTAGAAAGGGCCCTGTAGCTTTGGGTTTGGGTGTCATAGGCGATAATGAGCTTTACTTACTATCCTTTCACCATTTTTTGGTTTTTGAGACGGAGTCTCGCCCTGTCACCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCGCCTCTGGGGTTCAAGTGATTCTTCTGCCTCAGCAGGCACTGCCTGCCCGAGTAGCTGGGACTGCAGGCGTGTGCCACCAAGTACAGCTAATTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGATAGTCTTGATCTCTTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCGCACCCGGCTTCCTTTTTTTCTTTTGCCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGTGTGCCACCCTGCCTGGCTAATTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGTGAGCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGCTTGAGCCACTGTGCCCGGCCTCTTCTTGTCTTATTTTCTAAACTTCTATCATCTTCCACCTTCTTCACGCAGTCTACCTCTCTCTGTCCTTCCCCTCAGACCCTTCTGATGACTGTAATCTCCTGTCCTGTGTCATCCATATGTCCCTCCTCCAGTAGGGCTCAGCCTGTCCACCCCTGCCAGGCCTCTAGTTCTTCCACTCTGCCTTTGTTCCACTTTGGACCTCCTTGTGTTTGTCTGACTCAGTTCCCAGGCTTGGATCCCTTCACCCAAATGCATGGTTTGCCCCAAACCTGCCTTCTGGTGACACCTTCCTCTTCTCTGCCCTCCAGCCTCTGCCTCGGTGCACCCTCTCATTGACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCTAACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTGGTAAGGATGGAAGTTGGGGTAGGCAGCTCCAATGAGAAAAGGGCAGAAAGGAGGTATTTGGGTGGGGGGATGGGCCTAGTTGGGCTTGGGGAGGGATGAGGAGGTGCCTAGAGGAGCTGGGCATGGGAATAGGAGAGCTGGAGCTCT
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CGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCCCTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCGGTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCCAGTCAGTCTGCCAGGTGAGCGGCCAGGTGGGGCGGAGGTGGGCCTGGAAAGGGGACGACGACAAGGCGGCGACGAGAGAGGGAGTAGCAGGGAGGGGCCTTGCGCTGGTGTAGTGTTTTAGAAAAGCACGCCCCTCTCCTCCGTCCAGGCCTAGTGGCCAGTGAGGCCCGCAGCAGCTCACAGCCTGCAGGGGTGGTTTTGAGGCGGGGGCTACAAGCACTCGCCGGGGCCGCGGCGCTGCGGGCTCCATCGGGCAGCTCGCACCGCCTGAGCGCCCGCTGCTTCCACGCCCGGCAGGTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGCGACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTGGAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAGCGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTGGTGAGTGCGTCACTGCCTGCGCCACCGCCTTCTTTCCCTCTTTCCTTCCTTCCCTCTGCGCTGCGCTGCGCTACGCTACGCTGCGGGGCTGTGGCTGGGTGGGCGGGCGAGTCACGTCGCCACCTGTCGGAGGGGAGGTACCACTGCAGCCCAGGAAATGGAGCCCAAAAGGTTTTCAGCGAGAGCCATCTGCATTCCTGGGTTGGGAAAAGGCATGCTCAGATGGGACTACCTGTGGATCCCAAGAAGGGCAAATATTCGGGAGCGGGGGCCGCAGTTAAGTTCCAGGTGGGCAGAGTTTCAATGAGTTGAGGCATTTTGGCATTCGGCTGTCGAAACAAATGGGCAGCTTAAAACCAGCCACCTCTTTTCATAACTGCCGCTTTGACTCCACTTTTCCCTGTATCCCACAGAAGTTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGCCCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACTCCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGCAACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTCCCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGAGACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTACATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAGCCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGAGAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGGCTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCCCGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGAACTCCCACATCCACTCGCACCTGCACCTGCACCAGCAAGATGCTATCCATGCAGGTGAGACCCCTCCTTCCTTGCCCTGGCCCTTTGGGGCCACCTTCCCCCTATCATGACTGGGCTCTTTCATTCCTATGGCCAAGACTTTCCTCCCCTGGCCTGGCATGAACCTTTCCTGAGATTGCTGCCCTGAACTTTGCCTCCCTGACGTTCTCTCAGCCTTGTCTTCTCATGGCCTTCCCTGGCCACAAAGCCTGTATGCCCCACAGCCCAGTTCTCTCCATAGTCTAGTATCCTTCCCATGACAGAGGCCCACACGGGAGCTTTTGAAGGACACTTTTCTATTCTCACAGCCCCATTCTCCCAAGCCCTTCACAAACCTGTCTTCTTATTTATTTTTTTGAGACATGGTCTGGCTCTGCCACCCAGGCTGGAGTGTAGTGGCGCAATCACAGCTCACTGCAGCCTCGACTTCCCGGTCTCAAGTGATCCTCCTACCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGTGTGTCACCATACCTGGCTACTTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGGCCATGGCTGGTCTCAAATTCCTGAGCTCAAAGCGATCCACCCACCTCGGCCTCCCAAAGTCCTGAGATTACAGGCGTGAGCCACCGTGCCCAACCCACAAACCTATCTTCTGATTTCTCTGGATTCAACTCATTTTTTGCCATTTTCTCCTCTTCTCCCTCTGCGAGGTCTTTCATGTTTTTCCCCATCTCTAGATCTGTAACTTTCTAGAAAGGGCCCTGTAGCTTTGGGTTTGGGTGTCATAGGCGATAATGAGCTTTACTTACTATCCTTTCACCATTTTTTGGTTTTTGAGACGGAGTCTCGCCCTGTCACCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCGCCTCTGGGGTTCAAGTGATTCTTCTGCCTCAGCAGGCACTGCCTGCCCGAGTAGCTGGGACTGCAGGCGTGTGCCACCAAGTACAGCTAATTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGATAGTCTTGATCTCTTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCGCACCCGGCTTCCTTTTTTTCTTTTGCCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGTGTGCCACCCTGCCTGGCTAATTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGTGAGCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGCTTGAGCCACTGTGCCCGGCCTCTTCTTGTCTTATTTTCTAAACTTCTATCATCTTCCACCTTCTTCACGCAGTCTACCTCTCTCTGTCCTTCCCCTCAGACCCTTCTGATGACTGTAATCTCCTGTCCTGTGTCATCCATATGTCCCTCCTCCAGTAGGGCTCAGCCTGTCCACCCCTGCCAGGCCTCTAGTTCTTCCACTCTGCCTTTGTTCCACTTTGGACCTCCTTGTGTTTGTCTGACTCAGTTCCCAGGCTTGGATCCCTTCACCCAAATGCATGGTTTGCCCCAAACCTGCCTTCTGGTGACACCTTCCTCTTCTCTGCCCTCCAGCCTCTGCCTCGGTGCACCCTCTCATTGACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCTAACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTGGTAAGGATGGAAGTTGGGGTAGGCAGCTCCAATGAGAAAAGGGCAGAAAGGAGGTATTTGGGTGGGGGGATGGGCCTAGTTGGGCTTGGGGAGGGATGAGGAGGTGCCTAGAGGAGCTGGGCATGGGAATAGGAGAGCTGGAGCTCT
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Task1_train_17080
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A sequence alteration has been identified in ATN1 (atrophin 1) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; Congenital ATN1 related disorder
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CGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCCCTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCGGTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCCAGTCAGTCTGCCAGGTGAGCGGCCAGGTGGGGCGGAGGTGGGCCTGGAAAGGGGACGACGACAAGGCGGCGACGAGAGAGGGAGTAGCAGGGAGGGGCCTTGCGCTGGTGTAGTGTTTTAGAAAAGCACGCCCCTCTCCTCCGTCCAGGCCTAGTGGCCAGTGAGGCCCGCAGCAGCTCACAGCCTGCAGGGGTGGTTTTGAGGCGGGGGCTACAAGCACTCGCCGGGGCCGCGGCGCTGCGGGCTCCATCGGGCAGCTCGCACCGCCTGAGCGCCCGCTGCTTCCACGCCCGGCAGGTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGCGACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTGGAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAGCGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTGGTGAGTGCGTCACTGCCTGCGCCACCGCCTTCTTTCCCTCTTTCCTTCCTTCCCTCTGCGCTGCGCTGCGCTACGCTACGCTGCGGGGCTGTGGCTGGGTGGGCGGGCGAGTCACGTCGCCACCTGTCGGAGGGGAGGTACCACTGCAGCCCAGGAAATGGAGCCCAAAAGGTTTTCAGCGAGAGCCATCTGCATTCCTGGGTTGGGAAAAGGCATGCTCAGATGGGACTACCTGTGGATCCCAAGAAGGGCAAATATTCGGGAGCGGGGGCCGCAGTTAAGTTCCAGGTGGGCAGAGTTTCAATGAGTTGAGGCATTTTGGCATTCGGCTGTCGAAACAAATGGGCAGCTTAAAACCAGCCACCTCTTTTCATAACTGCCGCTTTGACTCCACTTTTCCCTGTATCCCACAGAAGTTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGCCCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACTCCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGCAACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTCCCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGAGACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTACATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAGCCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGAGAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGGCTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCCCGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGCACTCCCACATCCACTCGCACCTGCACCTGCACCAGCAAGATGCTATCCATGCAGGTGAGACCCCTCCTTCCTTGCCCTGGCCCTTTGGGGCCACCTTCCCCCTATCATGACTGGGCTCTTTCATTCCTATGGCCAAGACTTTCCTCCCCTGGCCTGGCATGAACCTTTCCTGAGATTGCTGCCCTGAACTTTGCCTCCCTGACGTTCTCTCAGCCTTGTCTTCTCATGGCCTTCCCTGGCCACAAAGCCTGTATGCCCCACAGCCCAGTTCTCTCCATAGTCTAGTATCCTTCCCATGACAGAGGCCCACACGGGAGCTTTTGAAGGACACTTTTCTATTCTCACAGCCCCATTCTCCCAAGCCCTTCACAAACCTGTCTTCTTATTTATTTTTTTGAGACATGGTCTGGCTCTGCCACCCAGGCTGGAGTGTAGTGGCGCAATCACAGCTCACTGCAGCCTCGACTTCCCGGTCTCAAGTGATCCTCCTACCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGTGTGTCACCATACCTGGCTACTTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGGCCATGGCTGGTCTCAAATTCCTGAGCTCAAAGCGATCCACCCACCTCGGCCTCCCAAAGTCCTGAGATTACAGGCGTGAGCCACCGTGCCCAACCCACAAACCTATCTTCTGATTTCTCTGGATTCAACTCATTTTTTGCCATTTTCTCCTCTTCTCCCTCTGCGAGGTCTTTCATGTTTTTCCCCATCTCTAGATCTGTAACTTTCTAGAAAGGGCCCTGTAGCTTTGGGTTTGGGTGTCATAGGCGATAATGAGCTTTACTTACTATCCTTTCACCATTTTTTGGTTTTTGAGACGGAGTCTCGCCCTGTCACCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCGCCTCTGGGGTTCAAGTGATTCTTCTGCCTCAGCAGGCACTGCCTGCCCGAGTAGCTGGGACTGCAGGCGTGTGCCACCAAGTACAGCTAATTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGATAGTCTTGATCTCTTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCGCACCCGGCTTCCTTTTTTTCTTTTGCCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGTGTGCCACCCTGCCTGGCTAATTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGTGAGCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGCTTGAGCCACTGTGCCCGGCCTCTTCTTGTCTTATTTTCTAAACTTCTATCATCTTCCACCTTCTTCACGCAGTCTACCTCTCTCTGTCCTTCCCCTCAGACCCTTCTGATGACTGTAATCTCCTGTCCTGTGTCATCCATATGTCCCTCCTCCAGTAGGGCTCAGCCTGTCCACCCCTGCCAGGCCTCTAGTTCTTCCACTCTGCCTTTGTTCCACTTTGGACCTCCTTGTGTTTGTCTGACTCAGTTCCCAGGCTTGGATCCCTTCACCCAAATGCATGGTTTGCCCCAAACCTGCCTTCTGGTGACACCTTCCTCTTCTCTGCCCTCCAGCCTCTGCCTCGGTGCACCCTCTCATTGACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCTAACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTGGTAAGGATGGAAGTTGGGGTAGGCAGCTCCAATGAGAAAAGGGCAGAAAGGAGGTATTTGGGTGGGGGGATGGGCCTAGTTGGGCTTGGGGAGGGATGAGGAGGTGCCTAGAGGAGCTGGGCATGGGAATAGGAGAGCTGGAGCTCT
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CGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCCCTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCGGTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCCAGTCAGTCTGCCAGGTGAGCGGCCAGGTGGGGCGGAGGTGGGCCTGGAAAGGGGACGACGACAAGGCGGCGACGAGAGAGGGAGTAGCAGGGAGGGGCCTTGCGCTGGTGTAGTGTTTTAGAAAAGCACGCCCCTCTCCTCCGTCCAGGCCTAGTGGCCAGTGAGGCCCGCAGCAGCTCACAGCCTGCAGGGGTGGTTTTGAGGCGGGGGCTACAAGCACTCGCCGGGGCCGCGGCGCTGCGGGCTCCATCGGGCAGCTCGCACCGCCTGAGCGCCCGCTGCTTCCACGCCCGGCAGGTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGCGACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTGGAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAGCGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTGGTGAGTGCGTCACTGCCTGCGCCACCGCCTTCTTTCCCTCTTTCCTTCCTTCCCTCTGCGCTGCGCTGCGCTACGCTACGCTGCGGGGCTGTGGCTGGGTGGGCGGGCGAGTCACGTCGCCACCTGTCGGAGGGGAGGTACCACTGCAGCCCAGGAAATGGAGCCCAAAAGGTTTTCAGCGAGAGCCATCTGCATTCCTGGGTTGGGAAAAGGCATGCTCAGATGGGACTACCTGTGGATCCCAAGAAGGGCAAATATTCGGGAGCGGGGGCCGCAGTTAAGTTCCAGGTGGGCAGAGTTTCAATGAGTTGAGGCATTTTGGCATTCGGCTGTCGAAACAAATGGGCAGCTTAAAACCAGCCACCTCTTTTCATAACTGCCGCTTTGACTCCACTTTTCCCTGTATCCCACAGAAGTTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGCCCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACTCCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGCAACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTCCCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGAGACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTACATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAGCCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGAGAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGGCTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCCCGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGAACTCCCACATCCACTCGCACCTGCACCTGCACCAGCAAGATGCTATCCATGCAGGTGAGACCCCTCCTTCCTTGCCCTGGCCCTTTGGGGCCACCTTCCCCCTATCATGACTGGGCTCTTTCATTCCTATGGCCAAGACTTTCCTCCCCTGGCCTGGCATGAACCTTTCCTGAGATTGCTGCCCTGAACTTTGCCTCCCTGACGTTCTCTCAGCCTTGTCTTCTCATGGCCTTCCCTGGCCACAAAGCCTGTATGCCCCACAGCCCAGTTCTCTCCATAGTCTAGTATCCTTCCCATGACAGAGGCCCACACGGGAGCTTTTGAAGGACACTTTTCTATTCTCACAGCCCCATTCTCCCAAGCCCTTCACAAACCTGTCTTCTTATTTATTTTTTTGAGACATGGTCTGGCTCTGCCACCCAGGCTGGAGTGTAGTGGCGCAATCACAGCTCACTGCAGCCTCGACTTCCCGGTCTCAAGTGATCCTCCTACCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGTGTGTCACCATACCTGGCTACTTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGGCCATGGCTGGTCTCAAATTCCTGAGCTCAAAGCGATCCACCCACCTCGGCCTCCCAAAGTCCTGAGATTACAGGCGTGAGCCACCGTGCCCAACCCACAAACCTATCTTCTGATTTCTCTGGATTCAACTCATTTTTTGCCATTTTCTCCTCTTCTCCCTCTGCGAGGTCTTTCATGTTTTTCCCCATCTCTAGATCTGTAACTTTCTAGAAAGGGCCCTGTAGCTTTGGGTTTGGGTGTCATAGGCGATAATGAGCTTTACTTACTATCCTTTCACCATTTTTTGGTTTTTGAGACGGAGTCTCGCCCTGTCACCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCGCCTCTGGGGTTCAAGTGATTCTTCTGCCTCAGCAGGCACTGCCTGCCCGAGTAGCTGGGACTGCAGGCGTGTGCCACCAAGTACAGCTAATTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGATAGTCTTGATCTCTTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCGCACCCGGCTTCCTTTTTTTCTTTTGCCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGTGTGCCACCCTGCCTGGCTAATTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGTGAGCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGCTTGAGCCACTGTGCCCGGCCTCTTCTTGTCTTATTTTCTAAACTTCTATCATCTTCCACCTTCTTCACGCAGTCTACCTCTCTCTGTCCTTCCCCTCAGACCCTTCTGATGACTGTAATCTCCTGTCCTGTGTCATCCATATGTCCCTCCTCCAGTAGGGCTCAGCCTGTCCACCCCTGCCAGGCCTCTAGTTCTTCCACTCTGCCTTTGTTCCACTTTGGACCTCCTTGTGTTTGTCTGACTCAGTTCCCAGGCTTGGATCCCTTCACCCAAATGCATGGTTTGCCCCAAACCTGCCTTCTGGTGACACCTTCCTCTTCTCTGCCCTCCAGCCTCTGCCTCGGTGCACCCTCTCATTGACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCTAACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTGGTAAGGATGGAAGTTGGGGTAGGCAGCTCCAATGAGAAAAGGGCAGAAAGGAGGTATTTGGGTGGGGGGATGGGCCTAGTTGGGCTTGGGGAGGGATGAGGAGGTGCCTAGAGGAGCTGGGCATGGGAATAGGAGAGCTGGAGCTCT
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Task1_train_17081
|
A genomic change on Chromosome 12 affects ATN1 (atrophin 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; ATN1-related disorder
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TCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCCCTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCGGTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCCAGTCAGTCTGCCAGGTGAGCGGCCAGGTGGGGCGGAGGTGGGCCTGGAAAGGGGACGACGACAAGGCGGCGACGAGAGAGGGAGTAGCAGGGAGGGGCCTTGCGCTGGTGTAGTGTTTTAGAAAAGCACGCCCCTCTCCTCCGTCCAGGCCTAGTGGCCAGTGAGGCCCGCAGCAGCTCACAGCCTGCAGGGGTGGTTTTGAGGCGGGGGCTACAAGCACTCGCCGGGGCCGCGGCGCTGCGGGCTCCATCGGGCAGCTCGCACCGCCTGAGCGCCCGCTGCTTCCACGCCCGGCAGGTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGCGACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTGGAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAGCGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTGGTGAGTGCGTCACTGCCTGCGCCACCGCCTTCTTTCCCTCTTTCCTTCCTTCCCTCTGCGCTGCGCTGCGCTACGCTACGCTGCGGGGCTGTGGCTGGGTGGGCGGGCGAGTCACGTCGCCACCTGTCGGAGGGGAGGTACCACTGCAGCCCAGGAAATGGAGCCCAAAAGGTTTTCAGCGAGAGCCATCTGCATTCCTGGGTTGGGAAAAGGCATGCTCAGATGGGACTACCTGTGGATCCCAAGAAGGGCAAATATTCGGGAGCGGGGGCCGCAGTTAAGTTCCAGGTGGGCAGAGTTTCAATGAGTTGAGGCATTTTGGCATTCGGCTGTCGAAACAAATGGGCAGCTTAAAACCAGCCACCTCTTTTCATAACTGCCGCTTTGACTCCACTTTTCCCTGTATCCCACAGAAGTTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGCCCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACTCCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGCAACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTCCCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGAGACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTACATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAGCCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGAGAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGGCTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCCCGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGCACTCCCACATCCACTCGCACCTGCACCTGCACCAGCAAGATGCTATCCATGCAGGTGAGACCCCTCCTTCCTTGCCCTGGCCCTTTGGGGCCACCTTCCCCCTATCATGACTGGGCTCTTTCATTCCTATGGCCAAGACTTTCCTCCCCTGGCCTGGCATGAACCTTTCCTGAGATTGCTGCCCTGAACTTTGCCTCCCTGACGTTCTCTCAGCCTTGTCTTCTCATGGCCTTCCCTGGCCACAAAGCCTGTATGCCCCACAGCCCAGTTCTCTCCATAGTCTAGTATCCTTCCCATGACAGAGGCCCACACGGGAGCTTTTGAAGGACACTTTTCTATTCTCACAGCCCCATTCTCCCAAGCCCTTCACAAACCTGTCTTCTTATTTATTTTTTTGAGACATGGTCTGGCTCTGCCACCCAGGCTGGAGTGTAGTGGCGCAATCACAGCTCACTGCAGCCTCGACTTCCCGGTCTCAAGTGATCCTCCTACCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGTGTGTCACCATACCTGGCTACTTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGGCCATGGCTGGTCTCAAATTCCTGAGCTCAAAGCGATCCACCCACCTCGGCCTCCCAAAGTCCTGAGATTACAGGCGTGAGCCACCGTGCCCAACCCACAAACCTATCTTCTGATTTCTCTGGATTCAACTCATTTTTTGCCATTTTCTCCTCTTCTCCCTCTGCGAGGTCTTTCATGTTTTTCCCCATCTCTAGATCTGTAACTTTCTAGAAAGGGCCCTGTAGCTTTGGGTTTGGGTGTCATAGGCGATAATGAGCTTTACTTACTATCCTTTCACCATTTTTTGGTTTTTGAGACGGAGTCTCGCCCTGTCACCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCGCCTCTGGGGTTCAAGTGATTCTTCTGCCTCAGCAGGCACTGCCTGCCCGAGTAGCTGGGACTGCAGGCGTGTGCCACCAAGTACAGCTAATTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGATAGTCTTGATCTCTTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCGCACCCGGCTTCCTTTTTTTCTTTTGCCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGTGTGCCACCCTGCCTGGCTAATTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGTGAGCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGCTTGAGCCACTGTGCCCGGCCTCTTCTTGTCTTATTTTCTAAACTTCTATCATCTTCCACCTTCTTCACGCAGTCTACCTCTCTCTGTCCTTCCCCTCAGACCCTTCTGATGACTGTAATCTCCTGTCCTGTGTCATCCATATGTCCCTCCTCCAGTAGGGCTCAGCCTGTCCACCCCTGCCAGGCCTCTAGTTCTTCCACTCTGCCTTTGTTCCACTTTGGACCTCCTTGTGTTTGTCTGACTCAGTTCCCAGGCTTGGATCCCTTCACCCAAATGCATGGTTTGCCCCAAACCTGCCTTCTGGTGACACCTTCCTCTTCTCTGCCCTCCAGCCTCTGCCTCGGTGCACCCTCTCATTGACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCTAACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTGGTAAGGATGGAAGTTGGGGTAGGCAGCTCCAATGAGAAAAGGGCAGAAAGGAGGTATTTGGGTGGGGGGATGGGCCTAGTTGGGCTTGGGGAGGGATGAGGAGGTGCCTAGAGGAGCTGGGCATGGGAATAGGAGAGCTGGAGCTCTGCCCAAGAGAAG
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TCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCCCTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCGGTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCCAGTCAGTCTGCCAGGTGAGCGGCCAGGTGGGGCGGAGGTGGGCCTGGAAAGGGGACGACGACAAGGCGGCGACGAGAGAGGGAGTAGCAGGGAGGGGCCTTGCGCTGGTGTAGTGTTTTAGAAAAGCACGCCCCTCTCCTCCGTCCAGGCCTAGTGGCCAGTGAGGCCCGCAGCAGCTCACAGCCTGCAGGGGTGGTTTTGAGGCGGGGGCTACAAGCACTCGCCGGGGCCGCGGCGCTGCGGGCTCCATCGGGCAGCTCGCACCGCCTGAGCGCCCGCTGCTTCCACGCCCGGCAGGTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGCGACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTGGAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAGCGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTGGTGAGTGCGTCACTGCCTGCGCCACCGCCTTCTTTCCCTCTTTCCTTCCTTCCCTCTGCGCTGCGCTGCGCTACGCTACGCTGCGGGGCTGTGGCTGGGTGGGCGGGCGAGTCACGTCGCCACCTGTCGGAGGGGAGGTACCACTGCAGCCCAGGAAATGGAGCCCAAAAGGTTTTCAGCGAGAGCCATCTGCATTCCTGGGTTGGGAAAAGGCATGCTCAGATGGGACTACCTGTGGATCCCAAGAAGGGCAAATATTCGGGAGCGGGGGCCGCAGTTAAGTTCCAGGTGGGCAGAGTTTCAATGAGTTGAGGCATTTTGGCATTCGGCTGTCGAAACAAATGGGCAGCTTAAAACCAGCCACCTCTTTTCATAACTGCCGCTTTGACTCCACTTTTCCCTGTATCCCACAGAAGTTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGCCCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACTCCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGCAACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTCCCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGAGACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTACATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAGCCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGAGAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGGCTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCCCGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGCACTCCCACATCTACTCGCACCTGCACCTGCACCAGCAAGATGCTATCCATGCAGGTGAGACCCCTCCTTCCTTGCCCTGGCCCTTTGGGGCCACCTTCCCCCTATCATGACTGGGCTCTTTCATTCCTATGGCCAAGACTTTCCTCCCCTGGCCTGGCATGAACCTTTCCTGAGATTGCTGCCCTGAACTTTGCCTCCCTGACGTTCTCTCAGCCTTGTCTTCTCATGGCCTTCCCTGGCCACAAAGCCTGTATGCCCCACAGCCCAGTTCTCTCCATAGTCTAGTATCCTTCCCATGACAGAGGCCCACACGGGAGCTTTTGAAGGACACTTTTCTATTCTCACAGCCCCATTCTCCCAAGCCCTTCACAAACCTGTCTTCTTATTTATTTTTTTGAGACATGGTCTGGCTCTGCCACCCAGGCTGGAGTGTAGTGGCGCAATCACAGCTCACTGCAGCCTCGACTTCCCGGTCTCAAGTGATCCTCCTACCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGTGTGTCACCATACCTGGCTACTTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGGCCATGGCTGGTCTCAAATTCCTGAGCTCAAAGCGATCCACCCACCTCGGCCTCCCAAAGTCCTGAGATTACAGGCGTGAGCCACCGTGCCCAACCCACAAACCTATCTTCTGATTTCTCTGGATTCAACTCATTTTTTGCCATTTTCTCCTCTTCTCCCTCTGCGAGGTCTTTCATGTTTTTCCCCATCTCTAGATCTGTAACTTTCTAGAAAGGGCCCTGTAGCTTTGGGTTTGGGTGTCATAGGCGATAATGAGCTTTACTTACTATCCTTTCACCATTTTTTGGTTTTTGAGACGGAGTCTCGCCCTGTCACCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCGCCTCTGGGGTTCAAGTGATTCTTCTGCCTCAGCAGGCACTGCCTGCCCGAGTAGCTGGGACTGCAGGCGTGTGCCACCAAGTACAGCTAATTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGATAGTCTTGATCTCTTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCGCACCCGGCTTCCTTTTTTTCTTTTGCCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGTGTGCCACCCTGCCTGGCTAATTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGTGAGCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGCTTGAGCCACTGTGCCCGGCCTCTTCTTGTCTTATTTTCTAAACTTCTATCATCTTCCACCTTCTTCACGCAGTCTACCTCTCTCTGTCCTTCCCCTCAGACCCTTCTGATGACTGTAATCTCCTGTCCTGTGTCATCCATATGTCCCTCCTCCAGTAGGGCTCAGCCTGTCCACCCCTGCCAGGCCTCTAGTTCTTCCACTCTGCCTTTGTTCCACTTTGGACCTCCTTGTGTTTGTCTGACTCAGTTCCCAGGCTTGGATCCCTTCACCCAAATGCATGGTTTGCCCCAAACCTGCCTTCTGGTGACACCTTCCTCTTCTCTGCCCTCCAGCCTCTGCCTCGGTGCACCCTCTCATTGACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCTAACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTGGTAAGGATGGAAGTTGGGGTAGGCAGCTCCAATGAGAAAAGGGCAGAAAGGAGGTATTTGGGTGGGGGGATGGGCCTAGTTGGGCTTGGGGAGGGATGAGGAGGTGCCTAGAGGAGCTGGGCATGGGAATAGGAGAGCTGGAGCTCTGCCCAAGAGAAG
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Task1_train_17082
|
The following genetic variant occurs in ATN1 (atrophin 1) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Congenital ATN1 related disorder
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TACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCCCTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCGGTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCCAGTCAGTCTGCCAGGTGAGCGGCCAGGTGGGGCGGAGGTGGGCCTGGAAAGGGGACGACGACAAGGCGGCGACGAGAGAGGGAGTAGCAGGGAGGGGCCTTGCGCTGGTGTAGTGTTTTAGAAAAGCACGCCCCTCTCCTCCGTCCAGGCCTAGTGGCCAGTGAGGCCCGCAGCAGCTCACAGCCTGCAGGGGTGGTTTTGAGGCGGGGGCTACAAGCACTCGCCGGGGCCGCGGCGCTGCGGGCTCCATCGGGCAGCTCGCACCGCCTGAGCGCCCGCTGCTTCCACGCCCGGCAGGTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGCGACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTGGAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAGCGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTGGTGAGTGCGTCACTGCCTGCGCCACCGCCTTCTTTCCCTCTTTCCTTCCTTCCCTCTGCGCTGCGCTGCGCTACGCTACGCTGCGGGGCTGTGGCTGGGTGGGCGGGCGAGTCACGTCGCCACCTGTCGGAGGGGAGGTACCACTGCAGCCCAGGAAATGGAGCCCAAAAGGTTTTCAGCGAGAGCCATCTGCATTCCTGGGTTGGGAAAAGGCATGCTCAGATGGGACTACCTGTGGATCCCAAGAAGGGCAAATATTCGGGAGCGGGGGCCGCAGTTAAGTTCCAGGTGGGCAGAGTTTCAATGAGTTGAGGCATTTTGGCATTCGGCTGTCGAAACAAATGGGCAGCTTAAAACCAGCCACCTCTTTTCATAACTGCCGCTTTGACTCCACTTTTCCCTGTATCCCACAGAAGTTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGCCCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACTCCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGCAACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTCCCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGAGACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTACATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAGCCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGAGAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGGCTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCCCGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGCACTCCCACATCCACTCGCACCTGCACCTGCACCAGCAAGATGCTATCCATGCAGGTGAGACCCCTCCTTCCTTGCCCTGGCCCTTTGGGGCCACCTTCCCCCTATCATGACTGGGCTCTTTCATTCCTATGGCCAAGACTTTCCTCCCCTGGCCTGGCATGAACCTTTCCTGAGATTGCTGCCCTGAACTTTGCCTCCCTGACGTTCTCTCAGCCTTGTCTTCTCATGGCCTTCCCTGGCCACAAAGCCTGTATGCCCCACAGCCCAGTTCTCTCCATAGTCTAGTATCCTTCCCATGACAGAGGCCCACACGGGAGCTTTTGAAGGACACTTTTCTATTCTCACAGCCCCATTCTCCCAAGCCCTTCACAAACCTGTCTTCTTATTTATTTTTTTGAGACATGGTCTGGCTCTGCCACCCAGGCTGGAGTGTAGTGGCGCAATCACAGCTCACTGCAGCCTCGACTTCCCGGTCTCAAGTGATCCTCCTACCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGTGTGTCACCATACCTGGCTACTTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGGCCATGGCTGGTCTCAAATTCCTGAGCTCAAAGCGATCCACCCACCTCGGCCTCCCAAAGTCCTGAGATTACAGGCGTGAGCCACCGTGCCCAACCCACAAACCTATCTTCTGATTTCTCTGGATTCAACTCATTTTTTGCCATTTTCTCCTCTTCTCCCTCTGCGAGGTCTTTCATGTTTTTCCCCATCTCTAGATCTGTAACTTTCTAGAAAGGGCCCTGTAGCTTTGGGTTTGGGTGTCATAGGCGATAATGAGCTTTACTTACTATCCTTTCACCATTTTTTGGTTTTTGAGACGGAGTCTCGCCCTGTCACCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCGCCTCTGGGGTTCAAGTGATTCTTCTGCCTCAGCAGGCACTGCCTGCCCGAGTAGCTGGGACTGCAGGCGTGTGCCACCAAGTACAGCTAATTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGATAGTCTTGATCTCTTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCGCACCCGGCTTCCTTTTTTTCTTTTGCCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGTGTGCCACCCTGCCTGGCTAATTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGTGAGCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGCTTGAGCCACTGTGCCCGGCCTCTTCTTGTCTTATTTTCTAAACTTCTATCATCTTCCACCTTCTTCACGCAGTCTACCTCTCTCTGTCCTTCCCCTCAGACCCTTCTGATGACTGTAATCTCCTGTCCTGTGTCATCCATATGTCCCTCCTCCAGTAGGGCTCAGCCTGTCCACCCCTGCCAGGCCTCTAGTTCTTCCACTCTGCCTTTGTTCCACTTTGGACCTCCTTGTGTTTGTCTGACTCAGTTCCCAGGCTTGGATCCCTTCACCCAAATGCATGGTTTGCCCCAAACCTGCCTTCTGGTGACACCTTCCTCTTCTCTGCCCTCCAGCCTCTGCCTCGGTGCACCCTCTCATTGACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCTAACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTGGTAAGGATGGAAGTTGGGGTAGGCAGCTCCAATGAGAAAAGGGCAGAAAGGAGGTATTTGGGTGGGGGGATGGGCCTAGTTGGGCTTGGGGAGGGATGAGGAGGTGCCTAGAGGAGCTGGGCATGGGAATAGGAGAGCTGGAGCTCTGCCCAAGAGAAGCACGAGTTTTAGTGTC
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TACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCCCTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCGGTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCCAGTCAGTCTGCCAGGTGAGCGGCCAGGTGGGGCGGAGGTGGGCCTGGAAAGGGGACGACGACAAGGCGGCGACGAGAGAGGGAGTAGCAGGGAGGGGCCTTGCGCTGGTGTAGTGTTTTAGAAAAGCACGCCCCTCTCCTCCGTCCAGGCCTAGTGGCCAGTGAGGCCCGCAGCAGCTCACAGCCTGCAGGGGTGGTTTTGAGGCGGGGGCTACAAGCACTCGCCGGGGCCGCGGCGCTGCGGGCTCCATCGGGCAGCTCGCACCGCCTGAGCGCCCGCTGCTTCCACGCCCGGCAGGTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGCGACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTGGAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAGCGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTGGTGAGTGCGTCACTGCCTGCGCCACCGCCTTCTTTCCCTCTTTCCTTCCTTCCCTCTGCGCTGCGCTGCGCTACGCTACGCTGCGGGGCTGTGGCTGGGTGGGCGGGCGAGTCACGTCGCCACCTGTCGGAGGGGAGGTACCACTGCAGCCCAGGAAATGGAGCCCAAAAGGTTTTCAGCGAGAGCCATCTGCATTCCTGGGTTGGGAAAAGGCATGCTCAGATGGGACTACCTGTGGATCCCAAGAAGGGCAAATATTCGGGAGCGGGGGCCGCAGTTAAGTTCCAGGTGGGCAGAGTTTCAATGAGTTGAGGCATTTTGGCATTCGGCTGTCGAAACAAATGGGCAGCTTAAAACCAGCCACCTCTTTTCATAACTGCCGCTTTGACTCCACTTTTCCCTGTATCCCACAGAAGTTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGCCCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACTCCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGCAACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTCCCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGAGACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTACATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAGCCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGAGAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGGCTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCCCGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGCACTCCCACATCCACTCGCACCTGCACCGGCACCAGCAAGATGCTATCCATGCAGGTGAGACCCCTCCTTCCTTGCCCTGGCCCTTTGGGGCCACCTTCCCCCTATCATGACTGGGCTCTTTCATTCCTATGGCCAAGACTTTCCTCCCCTGGCCTGGCATGAACCTTTCCTGAGATTGCTGCCCTGAACTTTGCCTCCCTGACGTTCTCTCAGCCTTGTCTTCTCATGGCCTTCCCTGGCCACAAAGCCTGTATGCCCCACAGCCCAGTTCTCTCCATAGTCTAGTATCCTTCCCATGACAGAGGCCCACACGGGAGCTTTTGAAGGACACTTTTCTATTCTCACAGCCCCATTCTCCCAAGCCCTTCACAAACCTGTCTTCTTATTTATTTTTTTGAGACATGGTCTGGCTCTGCCACCCAGGCTGGAGTGTAGTGGCGCAATCACAGCTCACTGCAGCCTCGACTTCCCGGTCTCAAGTGATCCTCCTACCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGTGTGTCACCATACCTGGCTACTTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGGCCATGGCTGGTCTCAAATTCCTGAGCTCAAAGCGATCCACCCACCTCGGCCTCCCAAAGTCCTGAGATTACAGGCGTGAGCCACCGTGCCCAACCCACAAACCTATCTTCTGATTTCTCTGGATTCAACTCATTTTTTGCCATTTTCTCCTCTTCTCCCTCTGCGAGGTCTTTCATGTTTTTCCCCATCTCTAGATCTGTAACTTTCTAGAAAGGGCCCTGTAGCTTTGGGTTTGGGTGTCATAGGCGATAATGAGCTTTACTTACTATCCTTTCACCATTTTTTGGTTTTTGAGACGGAGTCTCGCCCTGTCACCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACCTCCGCCTCTGGGGTTCAAGTGATTCTTCTGCCTCAGCAGGCACTGCCTGCCCGAGTAGCTGGGACTGCAGGCGTGTGCCACCAAGTACAGCTAATTTTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGATAGTCTTGATCTCTTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAAGCGTGAGCCACCGCACCCGGCTTCCTTTTTTTCTTTTGCCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCTTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGTGTGCCACCCTGCCTGGCTAATTTTTTTGTATTTTTTGTAGAAACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGTGAGCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTATAGGCTTGAGCCACTGTGCCCGGCCTCTTCTTGTCTTATTTTCTAAACTTCTATCATCTTCCACCTTCTTCACGCAGTCTACCTCTCTCTGTCCTTCCCCTCAGACCCTTCTGATGACTGTAATCTCCTGTCCTGTGTCATCCATATGTCCCTCCTCCAGTAGGGCTCAGCCTGTCCACCCCTGCCAGGCCTCTAGTTCTTCCACTCTGCCTTTGTTCCACTTTGGACCTCCTTGTGTTTGTCTGACTCAGTTCCCAGGCTTGGATCCCTTCACCCAAATGCATGGTTTGCCCCAAACCTGCCTTCTGGTGACACCTTCCTCTTCTCTGCCCTCCAGCCTCTGCCTCGGTGCACCCTCTCATTGACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCTAACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTGGTAAGGATGGAAGTTGGGGTAGGCAGCTCCAATGAGAAAAGGGCAGAAAGGAGGTATTTGGGTGGGGGGATGGGCCTAGTTGGGCTTGGGGAGGGATGAGGAGGTGCCTAGAGGAGCTGGGCATGGGAATAGGAGAGCTGGAGCTCTGCCCAAGAGAAGCACGAGTTTTAGTGTC
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Task1_train_17083
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With a mutation on Chromosome 12 in gene C12orf57 (chromosome 12 open reading frame 57), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Temtamy syndrome
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GGTGCTGGTGCCCCCTCCTGCCCCAAGGCTGGGCAGGACCGCTGCGCGCCAGTGGAGGCCTCGGTCTGGGCTCTGTGGCTTATGCCTGTGAGACGCGGGTGGATTGCTTGAGCCCAGGAGTTGGAAACCAGCTTGGGCAACATAGAGAAACCCCATCTTAAGACAAAATCAGCTGGGGGTTGTGGTGCACTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGGGTCGAGGCTACAGTGAGTCATGATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCCCTATCTCAAAACAAACAAACAAAAGACACCCCAACCAACCAAACACTAGAGGCCTGGGACAGGCCCACCTCTGACGTGGTCAGTTCTAGGAATCTATTCAGACGGGTCTCACTGCTAGGAGCCACCAGAGTCCTCCGGAACAAGGGCTTCAGAGTCCTGAAACCTTTCCGTGGAATACTTTAAGAAACGGTTATGAGGCCAGGCGCGACGGCTCACGCTGGTAATCCCAGGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCTTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAACAAAACATTAGCTGGGCATGGTGGCGCGCGCCTGTCGTCCCAGCGACTTGGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTATGGTGAGCCAAGATCCCCCCCAGCTGCACTCCAGCTTGGCGACAGAGCAAGACTCCGTCTCAAAAACAAAAAACAAAGCCGGTTATGAAGCGGGGGTGGGGTGGGCTAGTTTTAATAGGTCCAGGCGATTAGTACCTGGCATCCTTAACCACCTACAGTTTGAGAAGGGAGTGGGTGATAAAAGCCTGGAAGGGAAGGGAAATCGGGCCGGGCATTAGGCTCCATCGCTCATCAATAGACAAGGCCTTTAGGAAACTGCGACAACGGCTTTTGCTCTGGGCCTTTACTGCCGAATCCAGGTCTCCGGGCTTAACAACAACGAAGGGGCTGTGACTGGCTGCTTTCTCAACCAATCAGCACCGAACTCATTTGCATGGGCTGAGAACAAATGTTCGCGAACTCTAGAAATGAATGACTTAAGTAAGTTCCTTAGAATATTATTTTTCCTACTGAAAGTTACCACATGCGTCGTTGTTTATACAGTAATAGGAACAAGAAAAAAGTCACCTAAGCTCACCCTCATCAATTGTGGAGTTCCTTTATATCCCATCTTCTCTCCAAACACATACGCAGCAGTGTTACAGCTCTTTTAGAATTTGTCTAGTAGGCTTTCTGGCTTTTTACCGGAAAGCCCCTCTTATGATGTTTGTTGCCAATGATAGATTGTTTTCACTGTGCAAAAATTATGGGTAGTTTTGGTGGTCTTGATGCAGTTGTAAGCTTGGGGTATGAAGGTTTGGGCCACGCCTGGGCGCTTCCGGCTGCGCCGGATGCTGTTTCCTTTCCGCTCCCAGGGGCGTTGGGAACGGTTGTAGGACGTGGCTCTTTATTCGTGAGTTTTCCATTTACCTCCGCTGAACCTAGAGCTTCAGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCTTGAGCGCTGAGCAAGCAAAGGGTGAGAATCGTCCTAGTCAAGGCATAGGCTGCTGGCCTGGGGTAGTCAAGGCATGGGCTGCTGGTCTGGGGAGGATGCGGGCGGAGGATGTGGGGCGACAAACCTGGCTACGTCCGCCGGGAAAATGGGGTAGGGGACGCCGGGTACCGTCCTTCTAAGTGGGGCGCTTGCCCCCAAGACTTGGGATCTTATTGGGTTACCTACAGCCTCAATCCACTAATTCCTTGCGCTCTCCGCTGGGCCCGCTGTCTGTTCTCCGACGCCTACCCGGGACGCCTCCCTGGGATGCTTCTGGCGCGCAGTGGTCCTCGCGGAGGTGATCCAGGCGTTCTCCGCCCCGGAGAATGCAGTGCGCATGGACGAGGCTCGGGATAACGCCTGCAACGACATGGGTAAGATGCTGCAATTCGTGCTGCCCGTGGCCACGCAGATCCAGCAGGAGGTTATCAAAGCCTATGGCTTCAGCTGCGACGGGGAAGGTGGGTCAGACGCGGGAAGGCGGGTCAGACGCGGGAAGGCGGGAGTTGGGTCGGGAGAGGGCGCCGGATCTGTGGGCCCATGAGCGGTTGTCCCCTTTCTCGCCACACGGCGGCAGCCACAATCTGACTAACATTCTTGGCACTCAGAGCCCAGGGTCTACCCTGAGCTTGTGCGTCCGAGTTGCGTTTTGTACAGTAGAGGTTCTGTATCCCTTACCCGAAATGGTTGGGACCGGAAGTGTTTCGGGTTTTTTCAGATTTCGGAATATTTACATATACATGGATATCTTGGGGGATGGGACCTAAATCTGAACACGAAATTGTTTTGTTTCATATACACGCACCTTATGCACATAGCCTGAGGGTAATTTTATATAATAGTCTGAATAATTTTGTGCATGAGACAAAGTTTTGACTGCGTTTTGACTACAGTCTCCCCCACCCCCCACTATGAAGTCAGGTGTGGAATTTTCCATTTTCGGCCTCACACTGGCACTCATAATTTCAGATTTTGGATTTTCTAATTAAGGATGGTCAACCTGTACTGTTAATCACATTATTATTCCATTTTGTGATGAGGAAGCAAACTCTAATGGTGCAGACTCTCGAGTAGCAGAGCTGGACTTAAATGCTGTTGTGCCACCTTTTAGTGACATGTCTGCATGACAGCAGTGGCTGCAGTCTCTCCAGGGTGTTTCAGCTAATTTTTGTTTGGGGGGGGTTGGTGGTTAAATTTTTGGTGAGATCCTGGTGTTCCCCAAAGGTGTTGACTGATTCAGCTCTGCTGCCTCATAGCCTTCCTGAGTTCCAGCTACAGACCTGGGGTCTCGTGTTCATTCTTGGGGTTCCAGTGACTAAACTGCTAAAATGGTTCACCTGAGAGCAAGAAGCACACTGCCTTGGGACATTTTCATTCACTGCATCCCATCTAGTTGTGCCCAGTGTAGACCAAATGTCATCATCCAAACCACACGGGACAGAGGCCTGCATGCGTCCTGTTTGGCAAACAGCTGCCCAGCCAGTGGGGGAGCAGTTCATGCTTAGACTACCACCCCCTCCAGGTGTCTTAGGCACGCTGGTCCTTAGGAGAAGGGTTGACCTTCCACTCCCTCTTGCAGGTGTCCTTAAGTTTGCTCGCTTGGTCAAGTCCTACGAAGCCCAGGATCCTGAGATCGCCAGCCTGTCAGGCAAGCTGAAGGCGCTGTTTCTGCCGCCCATGACCCTGCCACCCCATGGGCCTGCTGCTGGTGGCAGCGTGGCCGCCTCCTGAGAGTTGGCCCTCCCTTGTGCCACTGCCAGGGGAGGAAAGGCCTTGATGTTCCAGACAATAATAAATGCGCCTGTGACTTAGCCTTGGTGTCAGTCTCTTGCGGACCTGACAACCCCCATCTCTCCTTCCCTGATTCCCTCTGCCTTTCCAGGCCCCATCCCCCTGAACAGCTCCTCCCTATGGTCCTGGCTGGGCCTAACCCTGCCCCAGGGCCTAACCCTACCTGAGGCTCCTCCCCTTCCCCCGGGGCAGGTTGAGAGGCTGGAGTGGGTCCCTCAGCGCCCTGGGTGGGTGGGCCTGCACAGGGGGTACCTCCTTCTCTGAGGAACTGGGCTGTTAGGGATTTTCCTTAGGCCCTTTGGTTTCCGCCTACGGAGAGGTTTCCCCCATTGGTTGCTCTTCCTCAGCCAGGGTTACTTCCTGGTCTGTTCCCCTACCCAATACCCCGCCGCTCTGTCAGCTTGAGCTCCAGGTGGAGCTCCAGGTGGCTCCTCCTCTCCCGGGGGAAGGCGGCCCTGGACCAGCAGGCGGGCCTGCTGTACTCCCGCTTTGGGGCTGCAGGGAAGCTGGCCGCTGTGGGCGGTCTCGGGCCAGCCCCGCCCCACCTGTCCTTTTCCTGGAGACTATTAGTCCAGGGTTTGTCCCTGCAGTGCCATTGGCCTGGCAGGCAGGATCGAGGAGGAAGTGGCTGATTACTGAG
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GGTGCTGGTGCCCCCTCCTGCCCCAAGGCTGGGCAGGACCGCTGCGCGCCAGTGGAGGCCTCGGTCTGGGCTCTGTGGCTTATGCCTGTGAGACGCGGGTGGATTGCTTGAGCCCAGGAGTTGGAAACCAGCTTGGGCAACATAGAGAAACCCCATCTTAAGACAAAATCAGCTGGGGGTTGTGGTGCACTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGGGTCGAGGCTACAGTGAGTCATGATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCCCTATCTCAAAACAAACAAACAAAAGACACCCCAACCAACCAAACACTAGAGGCCTGGGACAGGCCCACCTCTGACGTGGTCAGTTCTAGGAATCTATTCAGACGGGTCTCACTGCTAGGAGCCACCAGAGTCCTCCGGAACAAGGGCTTCAGAGTCCTGAAACCTTTCCGTGGAATACTTTAAGAAACGGTTATGAGGCCAGGCGCGACGGCTCACGCTGGTAATCCCAGGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCCAGACCAGCTTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAACAAAACATTAGCTGGGCATGGTGGCGCGCGCCTGTCGTCCCAGCGACTTGGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTATGGTGAGCCAAGATCCCCCCCAGCTGCACTCCAGCTTGGCGACAGAGCAAGACTCCGTCTCAAAAACAAAAAACAAAGCCGGTTATGAAGCGGGGGTGGGGTGGGCTAGTTTTAATAGGTCCAGGCGATTAGTACCTGGCATCCTTAACCACCTACAGTTTGAGAAGGGAGTGGGTGATAAAAGCCTGGAAGGGAAGGGAAATCGGGCCGGGCATTAGGCTCCATCGCTCATCAATAGACAAGGCCTTTAGGAAACTGCGACAACGGCTTTTGCTCTGGGCCTTTACTGCCGAATCCAGGTCTCCGGGCTTAACAACAACGAAGGGGCTGTGACTGGCTGCTTTCTCAACCAATCAGCACCGAACTCATTTGCATGGGCTGAGAACAAATGTTCGCGAACTCTAGAAATGAATGACTTAAGTAAGTTCCTTAGAATATTATTTTTCCTACTGAAAGTTACCACATGCGTCGTTGTTTATACAGTAATAGGAACAAGAAAAAAGTCACCTAAGCTCACCCTCATCAATTGTGGAGTTCCTTTATATCCCATCTTCTCTCCAAACACATACGCAGCAGTGTTACAGCTCTTTTAGAATTTGTCTAGTAGGCTTTCTGGCTTTTTACCGGAAAGCCCCTCTTATGATGTTTGTTGCCAATGATAGATTGTTTTCACTGTGCAAAAATTATGGGTAGTTTTGGTGGTCTTGATGCAGTTGTAAGCTTGGGGTATGAAGGTTTGGGCCACGCCTGGGCGCTTCCGGCTGCGCCGGATGCTGTTTCCTTTCCGCTCCCAGGGGCGTTGGGAACGGTTGTAGGACGTGGCTCTTTATTCGTGAGTTTTCCATTTACCTCCGCTGAACCTAGAGCTTCAGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCTTGAGCGCTGAGCAAGCAAAGGGTGAGAATCGTCCTAGTCAAGGCATAGGCTGCTGGCCTGGGGTAGTCAAGGCATGGGCTGCTGGTCTGGGGAGGATGCGGGCGGAGGATGTGGGGCGACAAACCTGGCTACGTCCGCCGGGAAAATGGGGTAGGGGACGCCGGGTACCGTCCTTCTAAGTGGGGCGCTTGCCCCCAAGACTTGGGATCTTATTGGGTTACCTACAGCCTCAATCCACTAATTCCTTGCGCTCTCCGCTGGGCCCGCTGTCTGTTCTCCGACGCCTACCCGGGACGCCTCCCTGGGATGCTTCTGGCGCGCAGTGGTCCTCGCGGAGGTGATCCAGGCGTTCTCCGCCCCGGAGAATGCAGTGCGCATGGACGAGGCTCGGGATAACGCCTGCAACGACATGGGTAAGATGCAGCAATTCGTGCTGCCCGTGGCCACGCAGATCCAGCAGGAGGTTATCAAAGCCTATGGCTTCAGCTGCGACGGGGAAGGTGGGTCAGACGCGGGAAGGCGGGTCAGACGCGGGAAGGCGGGAGTTGGGTCGGGAGAGGGCGCCGGATCTGTGGGCCCATGAGCGGTTGTCCCCTTTCTCGCCACACGGCGGCAGCCACAATCTGACTAACATTCTTGGCACTCAGAGCCCAGGGTCTACCCTGAGCTTGTGCGTCCGAGTTGCGTTTTGTACAGTAGAGGTTCTGTATCCCTTACCCGAAATGGTTGGGACCGGAAGTGTTTCGGGTTTTTTCAGATTTCGGAATATTTACATATACATGGATATCTTGGGGGATGGGACCTAAATCTGAACACGAAATTGTTTTGTTTCATATACACGCACCTTATGCACATAGCCTGAGGGTAATTTTATATAATAGTCTGAATAATTTTGTGCATGAGACAAAGTTTTGACTGCGTTTTGACTACAGTCTCCCCCACCCCCCACTATGAAGTCAGGTGTGGAATTTTCCATTTTCGGCCTCACACTGGCACTCATAATTTCAGATTTTGGATTTTCTAATTAAGGATGGTCAACCTGTACTGTTAATCACATTATTATTCCATTTTGTGATGAGGAAGCAAACTCTAATGGTGCAGACTCTCGAGTAGCAGAGCTGGACTTAAATGCTGTTGTGCCACCTTTTAGTGACATGTCTGCATGACAGCAGTGGCTGCAGTCTCTCCAGGGTGTTTCAGCTAATTTTTGTTTGGGGGGGGTTGGTGGTTAAATTTTTGGTGAGATCCTGGTGTTCCCCAAAGGTGTTGACTGATTCAGCTCTGCTGCCTCATAGCCTTCCTGAGTTCCAGCTACAGACCTGGGGTCTCGTGTTCATTCTTGGGGTTCCAGTGACTAAACTGCTAAAATGGTTCACCTGAGAGCAAGAAGCACACTGCCTTGGGACATTTTCATTCACTGCATCCCATCTAGTTGTGCCCAGTGTAGACCAAATGTCATCATCCAAACCACACGGGACAGAGGCCTGCATGCGTCCTGTTTGGCAAACAGCTGCCCAGCCAGTGGGGGAGCAGTTCATGCTTAGACTACCACCCCCTCCAGGTGTCTTAGGCACGCTGGTCCTTAGGAGAAGGGTTGACCTTCCACTCCCTCTTGCAGGTGTCCTTAAGTTTGCTCGCTTGGTCAAGTCCTACGAAGCCCAGGATCCTGAGATCGCCAGCCTGTCAGGCAAGCTGAAGGCGCTGTTTCTGCCGCCCATGACCCTGCCACCCCATGGGCCTGCTGCTGGTGGCAGCGTGGCCGCCTCCTGAGAGTTGGCCCTCCCTTGTGCCACTGCCAGGGGAGGAAAGGCCTTGATGTTCCAGACAATAATAAATGCGCCTGTGACTTAGCCTTGGTGTCAGTCTCTTGCGGACCTGACAACCCCCATCTCTCCTTCCCTGATTCCCTCTGCCTTTCCAGGCCCCATCCCCCTGAACAGCTCCTCCCTATGGTCCTGGCTGGGCCTAACCCTGCCCCAGGGCCTAACCCTACCTGAGGCTCCTCCCCTTCCCCCGGGGCAGGTTGAGAGGCTGGAGTGGGTCCCTCAGCGCCCTGGGTGGGTGGGCCTGCACAGGGGGTACCTCCTTCTCTGAGGAACTGGGCTGTTAGGGATTTTCCTTAGGCCCTTTGGTTTCCGCCTACGGAGAGGTTTCCCCCATTGGTTGCTCTTCCTCAGCCAGGGTTACTTCCTGGTCTGTTCCCCTACCCAATACCCCGCCGCTCTGTCAGCTTGAGCTCCAGGTGGAGCTCCAGGTGGCTCCTCCTCTCCCGGGGGAAGGCGGCCCTGGACCAGCAGGCGGGCCTGCTGTACTCCCGCTTTGGGGCTGCAGGGAAGCTGGCCGCTGTGGGCGGTCTCGGGCCAGCCCCGCCCCACCTGTCCTTTTCCTGGAGACTATTAGTCCAGGGTTTGTCCCTGCAGTGCCATTGGCCTGGCAGGCAGGATCGAGGAGGAAGTGGCTGATTACTGAG
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Task1_train_17084
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The gene EMG1 (EMG1 N1-specific pseudouridine methyltransferase) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Bowen-Conradi syndrome
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TATTCAATTTCAAAATCTACATCCCTTTTTTCGCAGACTTTTTGGAGCCATATATCTCAAGAATGTTGCTAGACATATACATTCCAGTGATACATAAAAACTTAACCTTCCAAAACTTGTATTTGTATATAACAGTTTGTTTTTAGACTTTTTACTGACCACCCTAATGCTCCTTGGGACTCCAAATTGCAACTTGGAATTATTTCTTTTAGCTGCTACAGATGTAGTCCACTTCTTTAACATCAAACTTCTGATGTCTTTTCCAGTGTACAGAGAGTTGTTAGGATAGTGTCTGTCAGTCATTCCCATCCTGCCCTGCTTACTCCAGAATTATTTTTGGCTTTGTGCTTGATACATTAGGATTCTGTGGTTTACAAAGCAGCTTCATATATAATCACTGCCCTTTAGTGTCTCAGCTCCCAATTTTCCTCAAAATTTCCTTTCTTCGTTTCCACTTTTTCTTTTTTGTTTCTTTTTTGAGATAGGGTCTTGCTCTGTTGCCTGGGCAACAGAGTGCAGTGGTGTGATGGTTCACTGCAGCCTCTACTTCCCTGGCTCAAGCAGTCCTCCCACCTCATCCTCCTGAGTAACTGGGACTGCCAGCAAATGGCACTGCGCCTGGCTAATTTTTTTTTTTTTTTTTGTGAGACAGGGTCCCACCGTGTTGCCCAGGCCGGTCTCAAATTCCTGGGCTCAAGTGATCCTTCCACCTCGGCCTCCTAAAGTGTTGGGATCACAGGCATAAGCCACCACACCTGGCTACTTTGTCTTGATTCCATCTGTACCTTTGCTCATGCCAGTCTTTCTTTTTTCTTTTTTTTGAGACAGGGTCTTGCTGGAGTGCAGTGGTACAGTCTTGGCTCACTGCAATCTCTGTCTCCTGGGCTCAAGCCATCCTCCCACCTTAGCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATTTGCCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGCCGTGAGCCACTGCATCTGCCCCCATGCCCGTCTTAAAACTGGGAATAACCCCTCTTCCTTTTACTTCTGAGAGTTTTCTTTGATTAAACTGCCTCCTGCATCATTAGTTTTCACATTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCACGATGGTCTCAATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCACATTTCTTGTTCAGATTTGCAGCTCTTCACTTAGTGCATGTTTGGTGTACGCAAACTGAGGGTGGTGACTCGATATTTTGCACAGTACCTACTTACTGCTCCTGTAATAAACACAGCATTCAGCCTTGCTAACTACTAACTCCTGCCTAGTTCCAGGATGTCTCATTGGCCTTGCCTAACAGCCACAGGTTTTTTAATTAAATCCAGTGTATTAGTAGATAATGTGAAGTCACAGGTTGTGCCCTTCCTCCTGTTTCCCTCTCAGACCATTCACTGGGGAGTGCAAATAAGGCTGCACAGTAATCCCCCGAAGGGCTTGCTGGGCTCCACCCCCAGTGTTCCTGGTTTAGTAGGTCTAGGGTGGGCCTGAGAATTTGCCTAACAAGTTTCCAGGTGCAGCTGCTGCTGGTAGTTTGGGGACCACACTTGAAGAACCACGGGGCTAGGTAACAGAAGCTTATGCTGTTCTCTCGTCATGTTCCCTGTTCTTCAGGTAGGGAAGACATATGAGCTACTCAACTGTGACAAGCACAAGTCTATATTGTTGAAGAATGGACGGGACCCTGGGGAAGCGCGGCCAGATATCACCCACCAGGTAACTCCAGGGACAGTGCTCACAACCCTTTGAGCCTCTGTATGGAAGGGTTGGCAGCTGAGTGCTGCCTCTCTTCAGCCTTAACCATGTCTCGGTTTCTGCTTTGCTCAGAGTTTGCTGATGCTGATGGATAGTCCCCTGAACCGAGCTGGCTTGCTACAGGTTTATATCCATACACAGAAGAATGTTCTGATTGAAGTGAATCCCCAGACCCGAATTCCCAGAACCTTTGACCGCTTTTGTGGCCTCATGGGTAAGAAGCCTTAGAACAAAGTTAGAATGAACTTGTCAGTAGGGAAGAAGGGAGGAAGAGGAAAAGGGAGAACTAAATGTGGATTTTTAAGCGAGAAAATGGGAGAACAACATGATTAATACCAGGACAAGGACTGTTATTATTTTTCTATGTTTGTGGAAACTCCACTCCTGTTCTTGCAGTAGCTTCCTGGCTGAGTGAAAGAGGGAGTCTGAACCCATCACTGTACAGCTAGCCATATGCTTGGCAACTGTTTGTTCCTAACATTTCAGGAGTCCAGTCTAGATATAAAGCACACAGGGAACTCATCTTATCCATGGGGTTTTCCTTGTTCGATGACTGGACAGAAGGACTGTGGTCTCCATCTAGCTCTGAACTCTTTTTTCCCCCTTCTAGTTCAACTTTTACACAAGCTCAGTGTTCGAGCAGCTGATGGCCCCCAGAAGCTTTTGAAGGTGAGGTATTGAAACCTGTTAGTTGAAGGCTGGTTCTGGGAATGTTTCTGGGGCTGACTTTTCTCTCTTTTTTACTTTAGGTAATTAAGAATCCAGTATCAGATCACTTTCCAGTTGGATGTATGAAAGTTGGCACTTCTTTTTCCATCCCGGTTGTCAGTGATGTGCGTGAGCTGGTGCCCAGCAGTGATCCTATTGTTTTTGTGGTAGGGGCCTTTGCCCATGGCAAGGTAAGGTCTGGGCTCAACCCTGAAATTCTTGGTAGAGCTGAACTTAGTATAGAATTCCCAGAGCAGTAGGCATTTTAACAATGCTTACAATGAGCTAGAAGACACATGACAGTTCCACACCCTGCCCCAGGGCACATCCTTTGAGGGCTGCTGCCATAATTGGAAGTCACAGTTAGGACCTTCTTCATCCTTTGTAGGGATTTGATATTCAACAGCACAGCTGAAATACTAGCTCAGCCATAGTTTTCCTGCCCTAAAGAAGGGCTGAAACAGCTACTGAGTGACAGAGTTGGCTGACAAAACTGTTCTTTTCTTAGGTCAGTGTGGAGTATACAGAGAAGATGGTGTCCATCAGTAACTACCCCCTTTCTGCTGCCCTCACCTGTGCAAAACTTACCACAGCCTTTGAGGAAGTATGGGGGGTCATTTGACAGTAGTAGAACCTGTTCTGAAACCAGAAACTGTTGATGTCACATCCTTTGACCCTGGTCTGAGCTGACTGCTGGAAGATGATCTTTCTGCACTGAGACTGTGGAGTTTGGGGAAGCCAAGGCTGTACATTTGCTATTTGTTTATCCTATGAATACTGTTCTTGCAAACCTGGTTGTTTTGGGGTTCCTAAAGTATCCAGTGGTGTAAAACTGTTTGTTCCCCGGGACTTCAGGGACAGATAGGAGGTTACAGAGTTTGCAGTTTGGTTCCATGCTTTGAAGGCAGGCTTTAGCTCCCAGATTCCCATGTGCTAAAGGAGAGAACCCTGATGATGGAGAAGAACTGTGAAAGAGAGCAGTCAGGAATGCTAGTGGTGAAAAACTGAACAAACAGAAGTGATTTTATCTAATACAGTTCCAAGGTAGAAAAAGTGGAGCAGGCAGGGCCTTGCACCCCTCTCCACCCCCCCATGGGGGGGGTGGTGGTAGCGGCACATACACAATCATAGTAAATTGGCAGAAGAAAAACACAATAGATTCCTGGCTAGATGGGGAGAGATAAGGCAATGTGCATGGGGGAATCAGAGGGGAGATGTGAGCCCCTCTGCTCCTCCCACAAGAGTTTCCCCTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCC
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TATTCAATTTCAAAATCTACATCCCTTTTTTCGCAGACTTTTTGGAGCCATATATCTCAAGAATGTTGCTAGACATATACATTCCAGTGATACATAAAAACTTAACCTTCCAAAACTTGTATTTGTATATAACAGTTTGTTTTTAGACTTTTTACTGACCACCCTAATGCTCCTTGGGACTCCAAATTGCAACTTGGAATTATTTCTTTTAGCTGCTACAGATGTAGTCCACTTCTTTAACATCAAACTTCTGATGTCTTTTCCAGTGTACAGAGAGTTGTTAGGATAGTGTCTGTCAGTCATTCCCATCCTGCCCTGCTTACTCCAGAATTATTTTTGGCTTTGTGCTTGATACATTAGGATTCTGTGGTTTACAAAGCAGCTTCATATATAATCACTGCCCTTTAGTGTCTCAGCTCCCAATTTTCCTCAAAATTTCCTTTCTTCGTTTCCACTTTTTCTTTTTTGTTTCTTTTTTGAGATAGGGTCTTGCTCTGTTGCCTGGGCAACAGAGTGCAGTGGTGTGATGGTTCACTGCAGCCTCTACTTCCCTGGCTCAAGCAGTCCTCCCACCTCATCCTCCTGAGTAACTGGGACTGCCAGCAAATGGCACTGCGCCTGGCTAATTTTTTTTTTTTTTTTTGTGAGACAGGGTCCCACCGTGTTGCCCAGGCCGGTCTCAAATTCCTGGGCTCAAGTGATCCTTCCACCTCGGCCTCCTAAAGTGTTGGGATCACAGGCATAAGCCACCACACCTGGCTACTTTGTCTTGATTCCATCTGTACCTTTGCTCATGCCAGTCTTTCTTTTTTCTTTTTTTTGAGACAGGGTCTTGCTGGAGTGCAGTGGTACAGTCTTGGCTCACTGCAATCTCTGTCTCCTGGGCTCAAGCCATCCTCCCACCTTAGCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATTTGCCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGCCGTGAGCCACTGCATCTGCCCCCATGCCCGTCTTAAAACTGGGAATAACCCCTCTTCCTTTTACTTCTGAGAGTTTTCTTTGATTAAACTGCCTCCTGCATCATTAGTTTTCACATTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCGGGCTGGAGTGCAGTGGCGCTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCACGATGGTCTCAATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCACATTTCTTGTTCAGATTTGCAGCTCTTCACTTAGTGCATGTTTGGTGTACGCAAACTGAGGGTGGTGACTCGATATTTTGCACAGTACCTACTTACTGCTCCTGTAATAAACACAGCATTCAGCCTTGCTAACTACTAACTCCTGCCTAGTTCCAGGATGTCTCATTGGCCTTGCCTAACAGCCACAGGTTTTTTAATTAAATCCAGTGTATTAGTAGATAATGTGAAGTCACAGGTTGTGCCCTTCCTCCTGTTTCCCTCTCAGACCATTCACTGGGGAGTGCAAATAAGGCTGCACAGTAATCCCCCGAAGGGCTTGCTGGGCTCCACCCCCAGTGTTCCTGGTTTAGTAGGTCTAGGGTGGGCCTGAGAATTTGCCTAACAAGTTTCCAGGTGCAGCTGCTGCTGGTAGTTTGGGGACCACACTTGAAGAACCACGGGGCTAGGTAACAGAAGCTTATGCTGTTCTCTCGTCATGTTCCCTGTTCTTCAGGTAGGGAAGACATATGAGCTACTCAACTGTGACAAGCACAAGTCTATATTGTTGAAGAATGGACGGGACCCTGGGGAAGCGCGGCCAGGTATCACCCACCAGGTAACTCCAGGGACAGTGCTCACAACCCTTTGAGCCTCTGTATGGAAGGGTTGGCAGCTGAGTGCTGCCTCTCTTCAGCCTTAACCATGTCTCGGTTTCTGCTTTGCTCAGAGTTTGCTGATGCTGATGGATAGTCCCCTGAACCGAGCTGGCTTGCTACAGGTTTATATCCATACACAGAAGAATGTTCTGATTGAAGTGAATCCCCAGACCCGAATTCCCAGAACCTTTGACCGCTTTTGTGGCCTCATGGGTAAGAAGCCTTAGAACAAAGTTAGAATGAACTTGTCAGTAGGGAAGAAGGGAGGAAGAGGAAAAGGGAGAACTAAATGTGGATTTTTAAGCGAGAAAATGGGAGAACAACATGATTAATACCAGGACAAGGACTGTTATTATTTTTCTATGTTTGTGGAAACTCCACTCCTGTTCTTGCAGTAGCTTCCTGGCTGAGTGAAAGAGGGAGTCTGAACCCATCACTGTACAGCTAGCCATATGCTTGGCAACTGTTTGTTCCTAACATTTCAGGAGTCCAGTCTAGATATAAAGCACACAGGGAACTCATCTTATCCATGGGGTTTTCCTTGTTCGATGACTGGACAGAAGGACTGTGGTCTCCATCTAGCTCTGAACTCTTTTTTCCCCCTTCTAGTTCAACTTTTACACAAGCTCAGTGTTCGAGCAGCTGATGGCCCCCAGAAGCTTTTGAAGGTGAGGTATTGAAACCTGTTAGTTGAAGGCTGGTTCTGGGAATGTTTCTGGGGCTGACTTTTCTCTCTTTTTTACTTTAGGTAATTAAGAATCCAGTATCAGATCACTTTCCAGTTGGATGTATGAAAGTTGGCACTTCTTTTTCCATCCCGGTTGTCAGTGATGTGCGTGAGCTGGTGCCCAGCAGTGATCCTATTGTTTTTGTGGTAGGGGCCTTTGCCCATGGCAAGGTAAGGTCTGGGCTCAACCCTGAAATTCTTGGTAGAGCTGAACTTAGTATAGAATTCCCAGAGCAGTAGGCATTTTAACAATGCTTACAATGAGCTAGAAGACACATGACAGTTCCACACCCTGCCCCAGGGCACATCCTTTGAGGGCTGCTGCCATAATTGGAAGTCACAGTTAGGACCTTCTTCATCCTTTGTAGGGATTTGATATTCAACAGCACAGCTGAAATACTAGCTCAGCCATAGTTTTCCTGCCCTAAAGAAGGGCTGAAACAGCTACTGAGTGACAGAGTTGGCTGACAAAACTGTTCTTTTCTTAGGTCAGTGTGGAGTATACAGAGAAGATGGTGTCCATCAGTAACTACCCCCTTTCTGCTGCCCTCACCTGTGCAAAACTTACCACAGCCTTTGAGGAAGTATGGGGGGTCATTTGACAGTAGTAGAACCTGTTCTGAAACCAGAAACTGTTGATGTCACATCCTTTGACCCTGGTCTGAGCTGACTGCTGGAAGATGATCTTTCTGCACTGAGACTGTGGAGTTTGGGGAAGCCAAGGCTGTACATTTGCTATTTGTTTATCCTATGAATACTGTTCTTGCAAACCTGGTTGTTTTGGGGTTCCTAAAGTATCCAGTGGTGTAAAACTGTTTGTTCCCCGGGACTTCAGGGACAGATAGGAGGTTACAGAGTTTGCAGTTTGGTTCCATGCTTTGAAGGCAGGCTTTAGCTCCCAGATTCCCATGTGCTAAAGGAGAGAACCCTGATGATGGAGAAGAACTGTGAAAGAGAGCAGTCAGGAATGCTAGTGGTGAAAAACTGAACAAACAGAAGTGATTTTATCTAATACAGTTCCAAGGTAGAAAAAGTGGAGCAGGCAGGGCCTTGCACCCCTCTCCACCCCCCCATGGGGGGGGTGGTGGTAGCGGCACATACACAATCATAGTAAATTGGCAGAAGAAAAACACAATAGATTCCTGGCTAGATGGGGAGAGATAAGGCAATGTGCATGGGGGAATCAGAGGGGAGATGTGAGCCCCTCTGCTCCTCCCACAAGAGTTTCCCCTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCC
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Task1_train_17085
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This variant lies on Chromosome 12 and affects the gene C1S (complement C1s). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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TTCGATTAGGCCAAGCCTTCATTTGGCACTTCTTTTTTATTTTAGAATTTATTTATTTATGTATTATTTTTAATAATTTCAATAGTTTTGGGGGTACTGGTGTTTTTGGTTACATGGATGAGTTCCTTAGTGGTCAATTCTGAGATTTTAGTGCACTTGTTACTTGAGCGGTGTACACTATACCCAGTGTGTAGTTTTCTCGCCCCTGTTTCAACCTCCTCCCACGTTGAGTCCCCAGAGTCCATTATATCACTCTGTATTGGCATCTATTCTTAGTTACTCATAAGCTGAGATGAAGCCACAAGAAGGAGGAAGATAAGACTATAGGGTAAAGTTAGTTAATTGGATAAGAGAGATAGATGCCTGTAAAGGGTCTACTGGGGGCTGTTCATAACCAGAAAGGCTCCATCCTAAGCAAAGTGATGGAAACCTAATAGGGATTGGGTATTCCTACTGATACGTATTGCACGTGTAATTGCTCTATCCCTCCAGTTAGGGCAGGGATCTCAGGTTAGTTTGAATGCAGGACTGTCAGTTTCTGAGAGAAGGAATCATAGAATAGTGCAGGAATTCCTTTGCTTGACCCTGTATTTGATTCTCCCTTTCTCTTTTTCTCTGTTAGTTAATTGCAGTGGGGATGTATTCACTGCACTGATTGGGGAGATTGCAAGTCCCAATTATCCCAAACCATATCCAGAGAACTCAAGGTGTGAATACCAGATCCGGTTGGAGAAAGGGTTCCAAGTGGTGGTGACCTTGCGGAGAGAAGATTTTGATGTGGAAGCAGCTGACTCAGCGGGAAACTGCCTTGACAGTTTAGTTGTGCGTGATGGTTGATTAATACCCCACCCTTAACTTACACAGAGAGATCTCTCCCTGAAGACAAATTTTTTTTTCATACAGCATCTTTCTCTGTTGCTCAAGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGTAGCCTTGATCTCTTGGGCTCAAGCAAGCGTCCCACCTCAGCCTCCTGAGTAGCTGGGCCCACAGACGTGTGTCATCAAACCCAGCTAATATTTTTATTGTTATTCTTTTTTTTTTTACAGAGATGGGGTTTTGCTATGTTGCTCAGGATAGCCTGAAACTCCTAGCCTCAAGCAATGCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACTCAGCCTGAAGATAAAATTATCTTTTCTCCTGACCCTTATTTTCTTCTTATTTTATGTGACATTTAATGCCTCTTTTATTTGTATCTCCCACTTCCCAATTTTACCTCTTCCCTTTAGTTCTTTCCCTCTTCTGATTTCATCATTTTGTTCAGTTTGTTGCAGGAGATCGGCAATTTGGTCCTTACTGTGGTCATGGATTCCCTGGGCCTCTAAATATTGAAACCAAGAGTAATGCTCTTGATATCATCTTCCAAACTGATCTAACAGGGCAAAAAAAGGGCTGGAAACTTCGCTATCATGGAGATCGTGAGTAACTTAGAAGTGCCTCTTTGGTTGGTGATACCAAAGTCCCCAAACAATGTGGGATCAAAGCAGGTAGATGATCCAGGCACACTGGAAGCACCTGTGATCTCAGCTACCGAGGGAGGCTGAGGCAGGAGGATCCCTTGAGCCCAGGAAGTAGGAGTTTGAGTCCACTCTGGGCAACAGAGCAAAACCTTGTCTCTAAAACAAAACAAAAACAAAGCAACAATAATTTAAAAAACAGATAGATTGTTGTTCTGATAGAATCCTGAGATACTTCACTTCTTCAGGAAAATCTAAACCAGTCAACGGTTGCTAGAAATGCCTCAACCTCTAGTAATCCTTTAACTAGACCTGAGACTGCAGACAGCTTGCGGGTGGTTAGTTGGTAATGCCATATGATTTTAGACATCTGCTGTATTGGAATGTTAAGCATCAGGATTGAGGACAACTGGACGATTTTAGAAAGTGTGAGAATGATGTAAATAGAATGAGAGTCTTCAACTATTTAGTAATTTTTTCCTCCTGTCCCAACTTCTGTTCTTTCAAGCAATGCCCTGCCCTAAGGAAGACACTCCCAATTCTGTTTGGGAGCCTGCGAAGGCAAAATATGTCTTTAGAGATGTGGTGCAGATAACCTGTCTGGATGGGTTTGAAGTTGTGGAGGTAAAGTACCACCTTGGCTTCTCCCCAGTCCCTGGCCCCAGATCAGGATGAGCGGACTGAAATTGTCCAGTTGTTTACCCAATGTATGTGTGTGATCAAGGTATAACACCTTTCCCATAAACACAACAGCTTAAGATCTGTAGTTCTCCCTTGTGAGTCATGGAGCTGCCTGGCCAGCTTGGCATTCTCTCTGCCTTCAGTCTTCTTGAGGAAGGGGAGTTGACACGTTGGGGCAAAGCTTTCTGTCAGCCTCATCTCCTGGGTGCTTTAGGTCTGCTAAGATGTTCCCAAGCTTCTTGTGGTGAGGACTCCTCATTGATCCAAGGCCAGAGATCAATTCCAGTTTTGATTTTGGTTTCCCATATCTCTCTTCAGAAATAAGTGGTGATGTTTATTATTCTCCAGGGACGTGTTGGTGCAACATCTTTCTATTCGACTTGTCAAAGCAATGGAAAGTGGAGTAATTCCAAACTGAAATGTCAACGTATGTGTCTCTTCAAAGTGGAAGTCTTTCTTTTTCTCTCAGAGAGAATGGAAAGATCAGCACATCAAAATTCAAATGCATGGTTTCCTCTTAGGCATGTGAGGGAGTGGGTTGGGTTTTTGAAGGGAAGCCAGTCATGGAAGCTTTTCTAGTCCCAGCCCCGCATCTGGTCCCAGGCCAACTAGATCGGCATGTTTCTTTCCAAGAAAGGGGCTATGGGATAGGTCGAGTTAGTAGCCCCACGTGGGTGCATTTGTGGCTTCCACTGGGCCTTCACCAACCACTGAGAACCAGGCTCTTCACTACGGCTTTCATGGGGCCATCTGAATTGGCATCTCAGCGGGTGAGAGAGCTGAGAGATGCCAGTTGGGGAGGATGGCCACAGAGAGGCTGGTGTGGGGAGGTTCATCCCAGGTGTGCCTGTGGATATGGGGTGGGGAAGCAGTGAGGATGAACCTGGCCCCATGACTCTTCCTTGGAGGAAGTGGCTGTCCTGACCATCGCTCTCCTTCCTTCGTCTGGTAGCTGTGGACTGTGGCATTCCTGAATCCATTGAGAATGGTAAAGTTGAAGACCCAGAGAGCACTTTGTTTGGTTCTGTCATCCGCTACACTTGTGAGGAGCCATATTACTACATGGAAAATGGAGGAGGTGGTAGGTTTCTTCTACTGGAGAAGAGAGAGAGAGAGTGAGAAGGTGTTGGAGGGTGGATAGCATAATCTGTGCCAGAGACAGAGTTTGGAGACAAATGAAGGCGATAGGACAGACATTGTTCATCCCCTTGGCTTCGTCCAAAGATACAGTTTTCATCTGGAGCAGGGCAAGTTCAGGGGAGCATCAGCCTCAGGGAATCATAGAGGTCACCAACTGAGTTCACAGCTGCAGCAGGAATTCCCCTACAACATCCATTTCATGGGATTACCCACCTTTTGACCAGTTATTTCATGTAAAACCCACAGGAGCAATGCCTTCAGCTTTAAGCCACCAAACTACACTGACTGGCTTTCTTGATGTAGAGGCTTTGGTCATGCTAGGTGCAGGGCTGAATGAGACCCTAATACGTTCTCTGCATTGCTCTGTATTTATTTCGCCACTTTCCCGATGCCTTCTTTCCTTCTGCTTTGGAGATGTTCCCTTTGTCTCCCTGGCAGGCTAGAGGCCTGAGGGATTGTTTGGAGGAAGATATTTTTTTTCTGGCTGATTTAATCTGATTTACTACTTGAATCCTAGACGAGCTGAGGTTCTGAAGGAACGGGGCAGGGTGTTGGGGTCGGAGGGGGGAATGGAAGAAGGAAGATGTGGTGGTGAGTGTGGCCTGTGTTCTCTGTGCTATTCCAGGGGAGTATCACTGTGCTGGTAACGGGAGCTGGGTGAATGAGGTGCTGGGCCCGGAGCTGCCGAAATGTGTTCCAGGTAAGGAGGGCTGAGGCTTGGGGAGAGATGATAGCCATGGGTG
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TTCGATTAGGCCAAGCCTTCATTTGGCACTTCTTTTTTATTTTAGAATTTATTTATTTATGTATTATTTTTAATAATTTCAATAGTTTTGGGGGTACTGGTGTTTTTGGTTACATGGATGAGTTCCTTAGTGGTCAATTCTGAGATTTTAGTGCACTTGTTACTTGAGCGGTGTACACTATACCCAGTGTGTAGTTTTCTCGCCCCTGTTTCAACCTCCTCCCACGTTGAGTCCCCAGAGTCCATTATATCACTCTGTATTGGCATCTATTCTTAGTTACTCATAAGCTGAGATGAAGCCACAAGAAGGAGGAAGATAAGACTATAGGGTAAAGTTAGTTAATTGGATAAGAGAGATAGATGCCTGTAAAGGGTCTACTGGGGGCTGTTCATAACCAGAAAGGCTCCATCCTAAGCAAAGTGATGGAAACCTAATAGGGATTGGGTATTCCTACTGATACGTATTGCACGTGTAATTGCTCTATCCCTCCAGTTAGGGCAGGGATCTCAGGTTAGTTTGAATGCAGGACTGTCAGTTTCTGAGAGAAGGAATCATAGAATAGTGCAGGAATTCCTTTGCTTGACCCTGTATTTGATTCTCCCTTTCTCTTTTTCTCTGTTAGTTAATTGCAGTGGGGATGTATTCACTGCACTGATTGGGGAGATTGCAAGTCCCAATTATCCCAAACCATATCCAGAGAACTCAAGGTGTGAATACCAGATCCGGTTGGAGAAAGGGTTCCAAGTGGTGGTGACCTTGCGGAGAGAAGATTTTGATGTGGAAGCAGCTGACTCAGCGGGAAACTGCCTTGACAGTTTAGTTGTGCGTGATGGTTGATTAATACCCCACCCTTAACTTACACAGAGAGATCTCTCCCTGAAGACAAATTTTTTTTTCATACAGCATCTTTCTCTGTTGCTCAAGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGTAGCCTTGATCTCTTGGGCTCAAGCAAGCGTCCCACCTCAGCCTCCTGAGTAGCTGGGCCCACAGACGTGTGTCATCAAACCCAGCTAATATTTTTATTGTTATTCTTTTTTTTTTTACAGAGATGGGGTTTTGCTATGTTGCTCAGGATAGCCTGAAACTCCTAGCCTCAAGCAATGCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACTCAGCCTGAAGATAAAATTATCTTTTCTCCTGACCCTTATTTTCTTCTTATTTTATGTGACATTTAATGCCTCTTTTATTTGTATCTCCCACTTCCCAATTTTACCTCTTCCCTTTAGTTCTTTCCCTCTTCTGATTTCATCATTTTGTTCAGTTTGTTGCAGGAGATCGGCAATTTGGTCCTTACTGTGGTCATGGATTCCCTGGGCCTCTAAATATTGAAACCAAGAGTAATGCTCTTGATATCATCTTCCAAACTGATCTAACAGGGCAAAAAAAGGGCTGGAAACTTCGCTATCATGGAGATCGTGAGTAACTTAGAAGTGCCTCTTTGGTTGGTGATACCAAAGTCCCCAAACAATGTGGGATCAAAGCAGGTAGATGATCCAGGCACACTGGAAGCACCTGTGATCTCAGCTACCGAGGGAGGCTGAGGCAGGAGGATCCCTTGAGCCCAGGAAGTAGGAGTTTGAGTCCACTCTGGGCAACAGAGCAAAACCTTGTCTCTAAAACAAAACAAAAACAAAGCAACAATAATTTAAAAAACAGATAGATTGTTGTTCTGATAGAATCCTGAGATACTTCACTTCTTCAGGAAAATCTAAACCAGTCAACGGTTGCTAGAAATGCCTCAACCTCTAGTAATCCTTTAACTAGACCTGAGACTGCAGACAGCTTGCGGGTGGTTAGTTGGTAATGCCATATGATTTTAGACATCTGCTGTATTGGAATGTTAAGCATCAGGATTGAGGACAACTGGACGATTTTAGAAAGTGTGAGAATGATGTAAATAGAATGAGAGTCTTCAACTATTTAGTAATTTTTTCCTCCTGTCCCAACTTCTGTTCTTTCAAGCAATGCCCCGCCCTAAGGAAGACACTCCCAATTCTGTTTGGGAGCCTGCGAAGGCAAAATATGTCTTTAGAGATGTGGTGCAGATAACCTGTCTGGATGGGTTTGAAGTTGTGGAGGTAAAGTACCACCTTGGCTTCTCCCCAGTCCCTGGCCCCAGATCAGGATGAGCGGACTGAAATTGTCCAGTTGTTTACCCAATGTATGTGTGTGATCAAGGTATAACACCTTTCCCATAAACACAACAGCTTAAGATCTGTAGTTCTCCCTTGTGAGTCATGGAGCTGCCTGGCCAGCTTGGCATTCTCTCTGCCTTCAGTCTTCTTGAGGAAGGGGAGTTGACACGTTGGGGCAAAGCTTTCTGTCAGCCTCATCTCCTGGGTGCTTTAGGTCTGCTAAGATGTTCCCAAGCTTCTTGTGGTGAGGACTCCTCATTGATCCAAGGCCAGAGATCAATTCCAGTTTTGATTTTGGTTTCCCATATCTCTCTTCAGAAATAAGTGGTGATGTTTATTATTCTCCAGGGACGTGTTGGTGCAACATCTTTCTATTCGACTTGTCAAAGCAATGGAAAGTGGAGTAATTCCAAACTGAAATGTCAACGTATGTGTCTCTTCAAAGTGGAAGTCTTTCTTTTTCTCTCAGAGAGAATGGAAAGATCAGCACATCAAAATTCAAATGCATGGTTTCCTCTTAGGCATGTGAGGGAGTGGGTTGGGTTTTTGAAGGGAAGCCAGTCATGGAAGCTTTTCTAGTCCCAGCCCCGCATCTGGTCCCAGGCCAACTAGATCGGCATGTTTCTTTCCAAGAAAGGGGCTATGGGATAGGTCGAGTTAGTAGCCCCACGTGGGTGCATTTGTGGCTTCCACTGGGCCTTCACCAACCACTGAGAACCAGGCTCTTCACTACGGCTTTCATGGGGCCATCTGAATTGGCATCTCAGCGGGTGAGAGAGCTGAGAGATGCCAGTTGGGGAGGATGGCCACAGAGAGGCTGGTGTGGGGAGGTTCATCCCAGGTGTGCCTGTGGATATGGGGTGGGGAAGCAGTGAGGATGAACCTGGCCCCATGACTCTTCCTTGGAGGAAGTGGCTGTCCTGACCATCGCTCTCCTTCCTTCGTCTGGTAGCTGTGGACTGTGGCATTCCTGAATCCATTGAGAATGGTAAAGTTGAAGACCCAGAGAGCACTTTGTTTGGTTCTGTCATCCGCTACACTTGTGAGGAGCCATATTACTACATGGAAAATGGAGGAGGTGGTAGGTTTCTTCTACTGGAGAAGAGAGAGAGAGAGTGAGAAGGTGTTGGAGGGTGGATAGCATAATCTGTGCCAGAGACAGAGTTTGGAGACAAATGAAGGCGATAGGACAGACATTGTTCATCCCCTTGGCTTCGTCCAAAGATACAGTTTTCATCTGGAGCAGGGCAAGTTCAGGGGAGCATCAGCCTCAGGGAATCATAGAGGTCACCAACTGAGTTCACAGCTGCAGCAGGAATTCCCCTACAACATCCATTTCATGGGATTACCCACCTTTTGACCAGTTATTTCATGTAAAACCCACAGGAGCAATGCCTTCAGCTTTAAGCCACCAAACTACACTGACTGGCTTTCTTGATGTAGAGGCTTTGGTCATGCTAGGTGCAGGGCTGAATGAGACCCTAATACGTTCTCTGCATTGCTCTGTATTTATTTCGCCACTTTCCCGATGCCTTCTTTCCTTCTGCTTTGGAGATGTTCCCTTTGTCTCCCTGGCAGGCTAGAGGCCTGAGGGATTGTTTGGAGGAAGATATTTTTTTTCTGGCTGATTTAATCTGATTTACTACTTGAATCCTAGACGAGCTGAGGTTCTGAAGGAACGGGGCAGGGTGTTGGGGTCGGAGGGGGGAATGGAAGAAGGAAGATGTGGTGGTGAGTGTGGCCTGTGTTCTCTGTGCTATTCCAGGGGAGTATCACTGTGCTGGTAACGGGAGCTGGGTGAATGAGGTGCTGGGCCCGGAGCTGCCGAAATGTGTTCCAGGTAAGGAGGGCTGAGGCTTGGGGAGAGATGATAGCCATGGGTG
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Task1_train_17086
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Here is a genetic alteration in C1R (complement C1r) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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TCAGCATTTTCTTTATATTGTACAATCAAAACAAAACACAGATATTTATTGTTATCCATAACCCTAATTGTAAATGTGTGCATAAACTTAACTGTTCTTGTTGCCTTCCTGAGTAAATATTTTAAATATGACCTTCCTTACAAAATATTTTTATATAAATTAAATACAACTTTTGACTCATTTTGCACACTGGCATTTCTCATAAAACTTTATTTGGAAAAAGTTATATTCAATGACCCAATGGTATCAAAGTGGAAGAGGAAAGTGACAACTAGAGATTGATAACTATATCCTCTGCAATCCTCAGAAGAAAGAAAGGGGCCCTTTGGGTTGTTTCAGGTAAAGTACATCAATGGGACTACAGGAAAGAGAATTTCACACACGGTCTTTCTGCATCAGTAATTTTAATAGAGACTCTTAGTGGTTATCAACAACTGGTCAGTTGTTTTTTGTTTTTTTTTTTCCACACTGCTCTCTGGATTCGAACCTAGTGAATTCTGGGCTCAGTCCTCCTCCTCCATCTCTTTCTTGATCCAGTCCACGTAGTTGAGCACTTTGGTGTAGAAGCCATAGCCCCTGCTGCACCCGATGCCCCAGGACACGATGCCCGTGGCCACCCAGCGATCAGTGTTCGGGTCCCTTACTGCAAAAACGCCCCCACTATCCCCCTGGCAGGCGTCCTGCTTTAGAGATGGGTGTCCAGCACAGAACATGTTTTGAGAGAACACATCCATCCTATTCTTTCCCCGGAGCCAGTTCTCACAGGCCTGTGGATTAGCTACGGGCAGACGGACAAACCTGAGGTCATGAGCAATCTTCTCCTCCATGACCCCGAAGCCACTGACATAGCCCATCAAGCCCAGGTCGTAGAAGGTATCGTTGTCAGGGAGGCAGATGGGGAGGAGGTTGGGACCCAGGGTGACACTATTTTCCAGCTCCAGCAGGGCGATGTCCCCCTCAAAATTGTAGGACTCATCCTGACGGTAGTCCGGGTGGACGCTGACCCTGCGGATGGGGTGATTTCCTAGCTTCATGAGCTCTTCCACATTTGTGTGGCCCAGGAACACATCCAAAGAGGCGTTGCTTTGCGCTTCGTGTTCCTTGGGATACAGGGTGTGGGCAGCTGTGAGGATCCAGCGGTCGCCCAGCAGGGCCCCGCCCCCGCGCCCGTGGATGTTGGTGAACACCTGCCAGGGGAAGTTGCCCATCTTGGCTTTTTGCCCTCCGATGATGCGCTGCCTCTGTTCCACGGGGTTCACGGGCTTCCCACACACTGAGGGAGAGACAGGGAAGACAAGGGCAAGTCAGTTCCAGGTCCCACATCTCTTCCTTCTGCAGCCAGCCAGCTCCCTGTTTGCCCTCTCTTTTTGGCTTCTGTCTCTTTTCTCTTTCTCCTCCCATCCCCACACCTCCGTCATTGGCCTATTGACAGGCTCTTCTTGTTCTTGTTTTTTTTTTTTTTTTAAATTATTATTTTTATTTTTTGAGACTCCTTGCTCTGTTGCCTAGGCTGGCATGCAGTGGCGCGATTTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCACTCAAGTAGCTGGGACTACAGGCATGTGCCACCATGCTTGGCTAATTTTTCTCTTTTTAGCAGAGGCTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGTCTTGCCCCTTGTTCTTGTTTATTTCTTCCTAGGGGGTCTCCCATTGTTTTTATTCCCTGATTTCCCATCTGCTTAGTGAAAATGGCAGCATTTCGGGACTGAATTCAGCACTCTGTCCCTCTCTCCCTTTCTCCTGGGATGTTCCCCTCTTCTCTCCTCTCTCTCCTTTTTCTGGGCCACACTGCTTTTGAGGCCCTGCAGGCTGCTAAAGACCCTGATGATGGCCCCAGAGGGTTTCCACTCACCTGGCAAGCACCGAGGAATCTTCTCTCCCTTCTGTTCATTCTTCCAAATGCCCTGTGCTGTGCAGGTGTACACCCCTGAGGGCAGAGGAGGCAAGAATCAAGTTGGGGGGTGATGGGTAAGAAAACTAGGTTGCAGAGGCCAGCAAGTACTGAGTGTGCTTGATGGGGAGAGGGGCAGGGAGGAGCCAACATGGCAAGGGCCAAAGGTCAAAGGCTCAACTCTAGAAGGAAAGAATGTCAAGTGTTCAGAGGCTCTAGACCTATATTTTGTTTTAATGCCAAGTAAAAAAATCAGAATGCTTAACTATTTTTTTTTTTGGGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGCAAGCTCCGTCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCAGAATGCTTAACTATTAACATATGTTTGCTGTGATCCCTGCTTGTGAAAGTAGACATAAAAACCAGAAGGAATATATCAAAATCTTATCAGTGATTGCATCTTGGTCGTGGAATCATAGACGATAATTGTAGCTACATCTTCTGATTGCTGAAAATGTGCCATGCTTGTTGCTAAGCACTTTATCTGCACGATCTCATTTAAACACTATAGTGACACTTGCAGGTGTGTGTTATTATCCTCATTTTGTGGATGAGGAAACTGAGTTTAAATAATTTGCACAGGGTCACATAACTTCTAAGTGCCAGAACCAAGGTGCAAGAGGTTTTCTGACTCCAAAGCCCAGCTCTTAATGAATACCATTTATAATCCAGATTTTTTCCCTTTTTTCTGTGTTTCAAACCTATAATGCATGTGATTTCTAATATTTAAAAAAAGTTAGAAAAATACCCACTAATGAGTGAGAGTCGTTTAGTAAAACTAAGTGCAAAAATCACAACTAGGTTGAGGGGGAGAATGGAGAGGGGAGTTTCACTGAGTTAGCTGTAGTGGTCATGATGGTGGTGAAGACTGTGGTGTTGGTGTTGGTGGTGATGGTGTTGTTAATGGTGGTGTTGTTAATGGTGGTAGTGGTGATGGTAGTATTTGCTGTGATGGTGTTGGTAGTGATGATGGTGTTGGTAATGGTGATGGTGGTAATGGTGTTGGTGGTGATGGTGGTGTTGGTGTTGGTAATGATGGTGGTGACAGTGGTGTTGGTAATGGTGTTAGTAATAGTGGTGGTGATAATGGTAGTGATGATGGTGGTGTTTGTAATGGTGATAGTGATGATGGTGATGGAGGTGATGGTGGTGTTGGTGTTGGCAATGGTGGTGGTGGTGATATTGGTGTTGGTAATGGTGGTGGTGATCATGGTAGTGGCGACAGTGGTGTTGGTAATGGTGATAGTGGTGATGGTGTTACTGTTGGTGGTGATGATGACGATGATAGTGGTCATAGTGGGGATGATGGTGTTGGTGGTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
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TCAGCATTTTCTTTATATTGTACAATCAAAACAAAACACAGATATTTATTGTTATCCATAACCCTAATTGTAAATGTGTGCATAAACTTAACTGTTCTTGTTGCCTTCCTGAGTAAATATTTTAAATATGACCTTCCTTACAAAATATTTTTATATAAATTAAATACAACTTTTGACTCATTTTGCACACTGGCATTTCTCATAAAACTTTATTTGGAAAAAGTTATATTCAATGACCCAATGGTATCAAAGTGGAAGAGGAAAGTGACAACTAGAGATTGATAACTATATCCTCTGCAATCCTCAGAAGAAAGAAAGGGGCCCTTTGGGTTGTTTCAGGTAAAGTACATCAATGGGACTACAGGAAAGAGAATTTCACACACGGTCTTTCTGCATCAGTAATTTTAATAGAGACTCTTAGTGGTTATCAACAACTGGTCAGTTGTTTTTTGTTTTTTTTTTTCCACACTGCTCTCTGGATTCGAACCTAGTGAATTCTGGGCTCAGTCCTCCTCCTCCATCTCTTTCTTGATCCAGTCCACGTAGTTGAGCACTTTGGTGTAGAAGCCATAGCCCCTGCTGCACCCGATGCCCCAGGACACGATGCCCGTGGCCACCCAGCGATCAGTGTTCGGGTCCCTTACTGCAAAAACGCCCCCACTATCCCCCTGGCAGGCGTCCTGCTTTAGAGATGGGTGTCCAGCACAGAACATGTTTTGAGAGAACACATCCATCCTATTCTTTCCCCGGAGCCAGTTCTCACAGGCCTGTGGATTAGCTACGGGCAGACGGACAAACCTGAGGTCATGAGCAATCTTCTCCTCCATGACCCCGAAGCCACTGACATAGCCCATCAAGCCCAGGTCGTAGAAGGTATCGTTGTCAGGGAGGCAGATGGGGAGGAGGTTGGGACCCAGGGTGACACTATTTTCCAGCTCCAGCAGGGCGATGTCCCCCTCAAAATTGTAGGACTCATCCTGACGGTAGTCCGGGTGGACGCTGACCCTGCGGATGGGGTGATTTCCTAGCTTCATGAGCTCTTCCACATTTGTGTGGCCCAGGAACACATCCAAAGAGGCGTTGCTTTGCGCTTCGTGTTCCTTGGGATACAGGGTGTGGGCAGCTGTGAGGATCCAGCGGTCGCCCAGCAGGGCCCCGCCCCCGCGCCCGTGGATGTTGGTGAACACCTGCCAGGGGAAGTTGCCCATCTTGGCTTTTTGCCCTCCGATGATGCGCTGCCTCTGTTCCACGGGGTTCACGGGCTTCCCACACACTGAGGGAGAGACAGGGAAGACAAGGGCAAGTCAGTTCCAGGTCCCACATCTCTTCCTTCTGCAGCCAGCCAGCTCCCTGTTTGCCCTCTCTTTTTGGCTTCTGTCTCTTTTCTCTTTCTCCTCCCATCCCCACACCTCCGTCATTGGCCTATTGACAGGCTCTTCTTGTTCTTGTTTTTTTTTTTTTTTTAAATTATTATTTTTATTTTTTGAGACTCCTTGCTCTGTTGCCTAGGCTGGCATGCAGTGGCGCGATTTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGCCTCAGCCACTCAAGTAGCTGGGACTACAGGCATGTGCCACCATGCTTGGCTAATTTTTCTCTTTTTAGCAGAGGCTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGTCTTGCCCCTTGTTCTTGTTTATTTCTTCCTAGGGGGTCTCCCATTGTTTTTATTCCCTGATTTCCCATCTGCTTAGTGAAAATGGCAGCATTTCGGGACTGAATTCAGCACTCTGTCCCTCTCTCCCTTTCTCCTGGGATGTTCCCCTCTTCTCTCCTCTCTCTCCTTTTTCTGGGCCACACTGCTTTTGAGGCCCTGCAGGCTGCTAAAGACCCTGATGATGGCCCCAGAGGGTTTCCACTCACCTGGCAAGCACCGAGGAATCTTCTCTCCCTTCTGTTCATTCTTCCGAATGCCCTGTGCTGTGCAGGTGTACACCCCTGAGGGCAGAGGAGGCAAGAATCAAGTTGGGGGGTGATGGGTAAGAAAACTAGGTTGCAGAGGCCAGCAAGTACTGAGTGTGCTTGATGGGGAGAGGGGCAGGGAGGAGCCAACATGGCAAGGGCCAAAGGTCAAAGGCTCAACTCTAGAAGGAAAGAATGTCAAGTGTTCAGAGGCTCTAGACCTATATTTTGTTTTAATGCCAAGTAAAAAAATCAGAATGCTTAACTATTTTTTTTTTTGGGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGCAAGCTCCGTCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCAGAATGCTTAACTATTAACATATGTTTGCTGTGATCCCTGCTTGTGAAAGTAGACATAAAAACCAGAAGGAATATATCAAAATCTTATCAGTGATTGCATCTTGGTCGTGGAATCATAGACGATAATTGTAGCTACATCTTCTGATTGCTGAAAATGTGCCATGCTTGTTGCTAAGCACTTTATCTGCACGATCTCATTTAAACACTATAGTGACACTTGCAGGTGTGTGTTATTATCCTCATTTTGTGGATGAGGAAACTGAGTTTAAATAATTTGCACAGGGTCACATAACTTCTAAGTGCCAGAACCAAGGTGCAAGAGGTTTTCTGACTCCAAAGCCCAGCTCTTAATGAATACCATTTATAATCCAGATTTTTTCCCTTTTTTCTGTGTTTCAAACCTATAATGCATGTGATTTCTAATATTTAAAAAAAGTTAGAAAAATACCCACTAATGAGTGAGAGTCGTTTAGTAAAACTAAGTGCAAAAATCACAACTAGGTTGAGGGGGAGAATGGAGAGGGGAGTTTCACTGAGTTAGCTGTAGTGGTCATGATGGTGGTGAAGACTGTGGTGTTGGTGTTGGTGGTGATGGTGTTGTTAATGGTGGTGTTGTTAATGGTGGTAGTGGTGATGGTAGTATTTGCTGTGATGGTGTTGGTAGTGATGATGGTGTTGGTAATGGTGATGGTGGTAATGGTGTTGGTGGTGATGGTGGTGTTGGTGTTGGTAATGATGGTGGTGACAGTGGTGTTGGTAATGGTGTTAGTAATAGTGGTGGTGATAATGGTAGTGATGATGGTGGTGTTTGTAATGGTGATAGTGATGATGGTGATGGAGGTGATGGTGGTGTTGGTGTTGGCAATGGTGGTGGTGGTGATATTGGTGTTGGTAATGGTGGTGGTGATCATGGTAGTGGCGACAGTGGTGTTGGTAATGGTGATAGTGGTGATGGTGTTACTGTTGGTGGTGATGATGACGATGATAGTGGTCATAGTGGGGATGATGGTGTTGGTGGTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
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Task1_train_17087
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A sequence alteration has been identified in C1R (complement C1r) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGTGATGGAGGTTTTAGTGTGGTGGTGACGATGGTGTTGGTGGTGGTGATGGTGTTGGTAATGGTGATGGTGGTGATGGTAGTGTTGGTGTTGGTAATCATGATGGTGATAATGAGAGTGGTGATAGTGGTGTTGGTAATGGTGTTGGTAATAGTGGTGGTGATGGTGTTGGTAATGGTGGTAGTGATCATGGTAGTGGTGACAGTGGTGTTGGTAACAGTATAGTGATGATGGAAGTGGTGTTAGTGTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGCTGATGATGGTGTTGGTGGTGATGGTGGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTATTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTGGTGGTGATGATGATGTTAGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGATGGTGGTGTTGGTGTCAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGCTGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTAGTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGGTGATGGTGGCATCGGTGTTAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTAACAGTGTTGATTGTGGTGATGGCGGTGATGGTGGTGATTGTGCTGGCACTGATGCTATTGGTAGTGTTGCTGGTGTTGTTACTGGTAGTGGTGGTGATGGCAGTGATGGTAGCAATGGGGGTGTGGTGGAGGCAATGGTGGTAGTGGGGATGATGTGGTGACAGTGAGCTGTTTATGCGATTTGAATCTTTTCTTTGCATCAGCTCAGATGCCTCCTTCTTCAAACCTACTAGGTTCCTGTTAGCACTATAATTTAGGCCCCTGAAGCCAGTGCCCTGGCAGATACCTTAATATGCATTCCCTAGGGATTCTACTGGGAGAAATCTCAGAGGATACCCCAAGGGGATGGAAGGGAGGAAATTTCCATTCGCATTGGTCCCTACCTTGCTCAGACTCCCTGCTGCCAGCTCTGGTCTGCATCTTGTAATATGGCTCATGGCAGTAGTACTGGATACGGGCCTTGTAGGTGTTCACTCCCATTGTGGTGGTGTAACGGAAGTCACCATTAGGCAGGTTTCGGGGCTGCCCACAGTCCTTGACTTGGAGAGAACACAGGGCAGGGTGAGAGCTGAGAATGACTGTGCTGGAACTTCAGTGAGGGGAGTGTGAGTTGTCTACCTGCAGAGCAGGCTCAGAAGCTTAGAAAAGATAGTCAGTGGGGAGGGCCCTTGCAATGGACAGGAGTTGGGTGGTATGAAATTCAATTCTGGGTAGAGCCCATCCATCCCACTGAGATGAGGGCTCACTGATTCCTGAGATGGCCCATAGGCATCAAAGGACAAGTCAGGGTGAGGGTCTCTTGGAAAGAGGCTTAGTCTGGACCCCTCTTTCTTTCTTGGCCCAGGTCCTCAAGGCAGGAGGTGGGAGGTCCCCAGGGTCATATCCCTGAATTGTGACTTACTCTTGCATCTGGGCATGGCACGATGCCACGTGCCATCATCCTGGCAGACAGCTGTGAAGGAATGCAGCACCTGGTTCCCCTGTTGAGCAGAGGATAGAGGTGCCATCAGTGCCAAGAGGCAATGGAGGTCCCCTTCCTGCCCTTTCCACACAGGAGTGGGAGGCAATACCAAGACATCTCTTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAG
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NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGTGATGGAGGTTTTAGTGTGGTGGTGACGATGGTGTTGGTGGTGGTGATGGTGTTGGTAATGGTGATGGTGGTGATGGTAGTGTTGGTGTTGGTAATCATGATGGTGATAATGAGAGTGGTGATAGTGGTGTTGGTAATGGTGTTGGTAATAGTGGTGGTGATGGTGTTGGTAATGGTGGTAGTGATCATGGTAGTGGTGACAGTGGTGTTGGTAACAGTATAGTGATGATGGAAGTGGTGTTAGTGTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGCTGATGATGGTGTTGGTGGTGATGGTGGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTATTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTGGTGGTGATGATGATGTTAGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGATGGTGGTGTTGGTGTCAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGCTGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTAGTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGGTGATGGTGGCATCGGTGTTAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTAACAGTGTTGATTGTGGTGATGGCGGTGATGGTGGTGATTGTGCTGGCACTGATGCTATTGGTAGTGTTGCTGGTGTTGTTACTGGTAGTGGTGGTGATGGCAGTGATGGTAGCAATGGGGGTGTGGTGGAGGCAATGGTGGTAGTGGGGATGATGTGGTGACAGTGAGCTGTTTATGCGATTTGAATCTTTTCTTTGCATCAGCTCAGATGCCTCCTTCTTCAAACCTACTAGGTTCCTGTTAGCACTATAATTTAGGCCCCTGAAGCCAGTGCCCTGGCAGATACCTTAATATGCATTCCCTAGGGATTCTACTGGGAGAAATCTCAGAGGATACCCCAAGGGGATGGAAGGGAGGAAATTTCCATTCGCATTGGTCCCTACCTTGCTCAGACTCCCTGCTGCCAGCTCTGGTCTGCATCTTGTAATATGGCTCATGGCAGTAGTACTGGATACGGGCCTTGTAGGTGTTCACTCCCATTGTGGTGGTGTAACGGAAGTCACCATTAGGCAGGTTTCGGGGCTGCCCACAGTCCTTGACTTGGAGAGAACACAGGGCAGGGTGAGAGCTGAGAATGACTGTGCTGGAACTTCAGTGAGGGGAGTGTGAGTTGTCTACCTGCAGAGCAGGCTCAGAAGCTTAGAAAAGATAGTCAGTGGGGAGGGCCCTTGCAATGGACAGGAGTTGGGTGGTATGAAATTCAATTCTGGGTAGAGCCCATCCATCCCACTGAGATGAGGGCTCACTGATTCCTGAGATGGCCCATAGGCATCAAAGGACAAGTCAGGGTGAGGGTCTCTTGGAAAGAGGCTTAGTCTGGACCCCTCTTTCTTTCTTGGCCCAGGTCCTCAAGGCAGGAGGTGGGAGGTCCCCAGGGTCATATCCCTGAATTGTGACTTACTCTTCCATCTGGGCATGGCACGATGCCACGTGCCATCATCCTGGCAGACAGCTGTGAAGGAATGCAGCACCTGGTTCCCCTGTTGAGCAGAGGATAGAGGTGCCATCAGTGCCAAGAGGCAATGGAGGTCCCCTTCCTGCCCTTTCCACACAGGAGTGGGAGGCAATACCAAGACATCTCTTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAG
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Task1_train_17088
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The variant affects gene C1R (complement C1r), 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; Ehlers-Danlos syndrome, periodontal type 1
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NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGTGATGGAGGTTTTAGTGTGGTGGTGACGATGGTGTTGGTGGTGGTGATGGTGTTGGTAATGGTGATGGTGGTGATGGTAGTGTTGGTGTTGGTAATCATGATGGTGATAATGAGAGTGGTGATAGTGGTGTTGGTAATGGTGTTGGTAATAGTGGTGGTGATGGTGTTGGTAATGGTGGTAGTGATCATGGTAGTGGTGACAGTGGTGTTGGTAACAGTATAGTGATGATGGAAGTGGTGTTAGTGTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGCTGATGATGGTGTTGGTGGTGATGGTGGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTATTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTGGTGGTGATGATGATGTTAGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGATGGTGGTGTTGGTGTCAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGCTGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTAGTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGGTGATGGTGGCATCGGTGTTAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTAACAGTGTTGATTGTGGTGATGGCGGTGATGGTGGTGATTGTGCTGGCACTGATGCTATTGGTAGTGTTGCTGGTGTTGTTACTGGTAGTGGTGGTGATGGCAGTGATGGTAGCAATGGGGGTGTGGTGGAGGCAATGGTGGTAGTGGGGATGATGTGGTGACAGTGAGCTGTTTATGCGATTTGAATCTTTTCTTTGCATCAGCTCAGATGCCTCCTTCTTCAAACCTACTAGGTTCCTGTTAGCACTATAATTTAGGCCCCTGAAGCCAGTGCCCTGGCAGATACCTTAATATGCATTCCCTAGGGATTCTACTGGGAGAAATCTCAGAGGATACCCCAAGGGGATGGAAGGGAGGAAATTTCCATTCGCATTGGTCCCTACCTTGCTCAGACTCCCTGCTGCCAGCTCTGGTCTGCATCTTGTAATATGGCTCATGGCAGTAGTACTGGATACGGGCCTTGTAGGTGTTCACTCCCATTGTGGTGGTGTAACGGAAGTCACCATTAGGCAGGTTTCGGGGCTGCCCACAGTCCTTGACTTGGAGAGAACACAGGGCAGGGTGAGAGCTGAGAATGACTGTGCTGGAACTTCAGTGAGGGGAGTGTGAGTTGTCTACCTGCAGAGCAGGCTCAGAAGCTTAGAAAAGATAGTCAGTGGGGAGGGCCCTTGCAATGGACAGGAGTTGGGTGGTATGAAATTCAATTCTGGGTAGAGCCCATCCATCCCACTGAGATGAGGGCTCACTGATTCCTGAGATGGCCCATAGGCATCAAAGGACAAGTCAGGGTGAGGGTCTCTTGGAAAGAGGCTTAGTCTGGACCCCTCTTTCTTTCTTGGCCCAGGTCCTCAAGGCAGGAGGTGGGAGGTCCCCAGGGTCATATCCCTGAATTGTGACTTACTCTTGCATCTGGGCATGGCACGATGCCACGTGCCATCATCCTGGCAGACAGCTGTGAAGGAATGCAGCACCTGGTTCCCCTGTTGAGCAGAGGATAGAGGTGCCATCAGTGCCAAGAGGCAATGGAGGTCCCCTTCCTGCCCTTTCCACACAGGAGTGGGAGGCAATACCAAGACATCTCTTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTA
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NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGTGATGGAGGTTTTAGTGTGGTGGTGACGATGGTGTTGGTGGTGGTGATGGTGTTGGTAATGGTGATGGTGGTGATGGTAGTGTTGGTGTTGGTAATCATGATGGTGATAATGAGAGTGGTGATAGTGGTGTTGGTAATGGTGTTGGTAATAGTGGTGGTGATGGTGTTGGTAATGGTGGTAGTGATCATGGTAGTGGTGACAGTGGTGTTGGTAACAGTATAGTGATGATGGAAGTGGTGTTAGTGTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGCTGATGATGGTGTTGGTGGTGATGGTGGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTATTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTGGTGGTGATGATGATGTTAGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGATGGTGGTGTTGGTGTCAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGCTGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTAGTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGGTGATGGTGGCATCGGTGTTAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTAACAGTGTTGATTGTGGTGATGGCGGTGATGGTGGTGATTGTGCTGGCACTGATGCTATTGGTAGTGTTGCTGGTGTTGTTACTGGTAGTGGTGGTGATGGCAGTGATGGTAGCAATGGGGGTGTGGTGGAGGCAATGGTGGTAGTGGGGATGATGTGGTGACAGTGAGCTGTTTATGCGATTTGAATCTTTTCTTTGCATCAGCTCAGATGCCTCCTTCTTCAAACCTACTAGGTTCCTGTTAGCACTATAATTTAGGCCCCTGAAGCCAGTGCCCTGGCAGATACCTTAATATGCATTCCCTAGGGATTCTACTGGGAGAAATCTCAGAGGATACCCCAAGGGGATGGAAGGGAGGAAATTTCCATTCGCATTGGTCCCTACCTTGCTCAGACTCCCTGCTGCCAGCTCTGGTCTGCATCTTGTAATATGGCTCATGGCAGTAGTACTGGATACGGGCCTTGTAGGTGTTCACTCCCATTGTGGTGGTGTAACGGAAGTCACCATTAGGCAGGTTTCGGGGCTGCCCACAGTCCTTGACTTGGAGAGAACACAGGGCAGGGTGAGAGCTGAGAATGACTGTGCTGGAACTTCAGTGAGGGGAGTGTGAGTTGTCTACCTGCAGAGCAGGCTCAGAAGCTTAGAAAAGATAGTCAGTGGGGAGGGCCCTTGCAATGGACAGGAGTTGGGTGGTATGAAATTCAATTCTGGGTAGAGCCCATCCATCCCACTGAGATGAGGGCTCACTGATTCCTGAGATGGCCCATAGGCATCAAAGGACAAGTCAGGGTGAGGGTCTCTTGGAAAGAGGCTTAGTCTGGACCCCTCTTTCTTTCTTGGCCCAGGTCCTCAAGGCAGGAGGTGGGAGGTCCCCAGGGTCATATCCCTGAATTGTGACTTACTCTTGCATCTGGGCATGGCACGATGGCACGTGCCATCATCCTGGCAGACAGCTGTGAAGGAATGCAGCACCTGGTTCCCCTGTTGAGCAGAGGATAGAGGTGCCATCAGTGCCAAGAGGCAATGGAGGTCCCCTTCCTGCCCTTTCCACACAGGAGTGGGAGGCAATACCAAGACATCTCTTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTA
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Task1_train_17089
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A variant found in Chromosome 12 affects C1R (complement C1r). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGTGATGGAGGTTTTAGTGTGGTGGTGACGATGGTGTTGGTGGTGGTGATGGTGTTGGTAATGGTGATGGTGGTGATGGTAGTGTTGGTGTTGGTAATCATGATGGTGATAATGAGAGTGGTGATAGTGGTGTTGGTAATGGTGTTGGTAATAGTGGTGGTGATGGTGTTGGTAATGGTGGTAGTGATCATGGTAGTGGTGACAGTGGTGTTGGTAACAGTATAGTGATGATGGAAGTGGTGTTAGTGTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGCTGATGATGGTGTTGGTGGTGATGGTGGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTATTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTGGTGGTGATGATGATGTTAGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGATGGTGGTGTTGGTGTCAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGCTGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTAGTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGGTGATGGTGGCATCGGTGTTAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTAACAGTGTTGATTGTGGTGATGGCGGTGATGGTGGTGATTGTGCTGGCACTGATGCTATTGGTAGTGTTGCTGGTGTTGTTACTGGTAGTGGTGGTGATGGCAGTGATGGTAGCAATGGGGGTGTGGTGGAGGCAATGGTGGTAGTGGGGATGATGTGGTGACAGTGAGCTGTTTATGCGATTTGAATCTTTTCTTTGCATCAGCTCAGATGCCTCCTTCTTCAAACCTACTAGGTTCCTGTTAGCACTATAATTTAGGCCCCTGAAGCCAGTGCCCTGGCAGATACCTTAATATGCATTCCCTAGGGATTCTACTGGGAGAAATCTCAGAGGATACCCCAAGGGGATGGAAGGGAGGAAATTTCCATTCGCATTGGTCCCTACCTTGCTCAGACTCCCTGCTGCCAGCTCTGGTCTGCATCTTGTAATATGGCTCATGGCAGTAGTACTGGATACGGGCCTTGTAGGTGTTCACTCCCATTGTGGTGGTGTAACGGAAGTCACCATTAGGCAGGTTTCGGGGCTGCCCACAGTCCTTGACTTGGAGAGAACACAGGGCAGGGTGAGAGCTGAGAATGACTGTGCTGGAACTTCAGTGAGGGGAGTGTGAGTTGTCTACCTGCAGAGCAGGCTCAGAAGCTTAGAAAAGATAGTCAGTGGGGAGGGCCCTTGCAATGGACAGGAGTTGGGTGGTATGAAATTCAATTCTGGGTAGAGCCCATCCATCCCACTGAGATGAGGGCTCACTGATTCCTGAGATGGCCCATAGGCATCAAAGGACAAGTCAGGGTGAGGGTCTCTTGGAAAGAGGCTTAGTCTGGACCCCTCTTTCTTTCTTGGCCCAGGTCCTCAAGGCAGGAGGTGGGAGGTCCCCAGGGTCATATCCCTGAATTGTGACTTACTCTTGCATCTGGGCATGGCACGATGCCACGTGCCATCATCCTGGCAGACAGCTGTGAAGGAATGCAGCACCTGGTTCCCCTGTTGAGCAGAGGATAGAGGTGCCATCAGTGCCAAGAGGCAATGGAGGTCCCCTTCCTGCCCTTTCCACACAGGAGTGGGAGGCAATACCAAGACATCTCTTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAG
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NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGTGATGGAGGTTTTAGTGTGGTGGTGACGATGGTGTTGGTGGTGGTGATGGTGTTGGTAATGGTGATGGTGGTGATGGTAGTGTTGGTGTTGGTAATCATGATGGTGATAATGAGAGTGGTGATAGTGGTGTTGGTAATGGTGTTGGTAATAGTGGTGGTGATGGTGTTGGTAATGGTGGTAGTGATCATGGTAGTGGTGACAGTGGTGTTGGTAACAGTATAGTGATGATGGAAGTGGTGTTAGTGTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGCTGATGATGGTGTTGGTGGTGATGGTGGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTATTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTGGTGGTGATGATGATGTTAGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGATGGTGGTGTTGGTGTCAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGCTGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTGGTGGTGATCATGGTAGTGTTGACAGTGGTGTTGGTAATGATAGTGGTGATGGTGGTGATGGTGGTGTTAGTGTTGGTGGTGATGATGATGTTGGTAATGGTGATGGTGGTGATGATGGTGTTGGTGGTGGTGATGGTGGCATCGGTGTTAGTAATGGTGGTGGTGATAGTGGTGTTGGTAATGGTGGTGATAATGGTAGTGGTGATGGTGGTGTTGGTAATGGTAACAGTGTTGATTGTGGTGATGGCGGTGATGGTGGTGATTGTGCTGGCACTGATGCTATTGGTAGTGTTGCTGGTGTTGTTACTGGTAGTGGTGGTGATGGCAGTGATGGTAGCAATGGGGGTGTGGTGGAGGCAATGGTGGTAGTGGGGATGATGTGGTGACAGTGAGCTGTTTATGCGATTTGAATCTTTTCTTTGCATCAGCTCAGATGCCTCCTTCTTCAAACCTACTAGGTTCCTGTTAGCACTATAATTTAGGCCCCTGAAGCCAGTGCCCTGGCAGATACCTTAATATGCATTCCCTAGGGATTCTACTGGGAGAAATCTCAGAGGATACCCCAAGGGGATGGAAGGGAGGAAATTTCCATTCGCATTGGTCCCTACCTTGCTCAGACTCCCTGCTGCCAGCTCTGGTCTGCATCTTGTAATATGGCTCATGGCAGTAGTACTGGATACGGGCCTTGTAGGTGTTCACTCCCATTGTGGTGGTGTAACGGAAGTCACCATTAGGCAGGTTTCGGGGCTGCCCACAGTCCTTGACTTGGAGAGAACACAGGGCAGGGTGAGAGCTGAGAATGACTGTGCTGGAACTTCAGTGAGGGGAGTGTGAGTTGTCTACCTGCAGAGCAGGCTCAGAAGCTTAGAAAAGATAGTCAGTGGGGAGGGCCCTTGCAATGGACAGGAGTTGGGTGGTATGAAATTCAATTCTGGGTAGAGCCCATCCATCCCACTGAGATGAGGGCTCACTGATTCCTGAGATGGCCCATAGGCATCAAAGGACAAGTCAGGGTGAGGGTCTCTTGGAAAGAGGCTTAGTCTGGACCCCTCTTTCTTTCTTGGCCCAGGTCCTCAAGGCAGGAGGTGGGAGGTCCCCAGGGTCATATCCCTGAATTGTGACTTACTCTTGCATCTGGGCATGGCACGATGCCACGTGCCATCATCCTGGAAGACAGCTGTGAAGGAATGCAGCACCTGGTTCCCCTGTTGAGCAGAGGATAGAGGTGCCATCAGTGCCAAGAGGCAATGGAGGTCCCCTTCCTGCCCTTTCCACACAGGAGTGGGAGGCAATACCAAGACATCTCTTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAG
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Task1_train_17090
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Here is a mutation in C1R (complement C1r) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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TGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCC
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TGGATGTGGCTCCCCCATGGATGTGGCTCCTTCTTCCTTCTCCCCAGCCCATTACAGACAGGAGCATTGAGCCACACCACAGCAAGTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCGGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCC
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Task1_train_17091
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Given this context: Chromosome 12, gene C1R (complement C1r) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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GTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCC
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GTCAGAGCAGAGCTAACTGATAGACCTGATCATCCTCTCTCTAGACTGTGGCCTGTTCCTACTGAGGTCCAGTTGAATCCCACAATTTGTAATTTGAAAAAATCACAAGCCACGTTTGAGTGTTTTCTGTATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGCCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCC
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Task1_train_17092
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Here is a mutation in C1R (complement C1r) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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TATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTC
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TATCAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGCAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTC
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Task1_train_17093
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Gene C1R (complement C1r) 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; Ehlers-Danlos syndrome, periodontal type 1
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CAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTCTCC
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CAAAACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGGGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTCTCC
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Task1_train_17094
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This gene mutation involves C1R (complement C1r) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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AACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTCTCCTGG
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AACAAAAGCCTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCGGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTCTCCTGG
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Task1_train_17095
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Gene C1R, C1RL (complement C1r| complement C1r subcomponent like), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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CTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTCTCCTGGGAATGGTAG
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CTGTGCTCCAGGGCAGAACTGTGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGTCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTCTCCTGGGAATGGTAG
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Task1_train_17096
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Mutation context: Chromosome 12, Gene C1R (complement C1r). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Ehlers-Danlos syndrome, periodontal type 1
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TGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCATCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTCTCCTGGGAATGGTAGTTGTTGGACCTTCGCAGGCTC
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TGTTTCTCTTGCTGGTGTCCCCTGCCTCCAGGCGTGCATCACTTTATCTCTCCTGGGTTGCAGTTTTCCTAAGGACAGAGGCCTTCCCTAAAATACTAGAGCCACCTCGCAGCTTTGAAAGGTGCTGGAGACGTTGATGTATGTGAAGTGCTGTTGCTATTGAGCAGGGACAAGACTAGGAAATGGCAGTCTTTGAAATGAAAAGTTACTGGACAAATGAATAAGTTTTACTAAGACCAAAATTCGGCCAGGTGCAGTGGCTCACGCCGGTAACCCCAGCACTTTGGGGGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGCCTGTAATTCCAGCAACTCGGGTGGCTGAGGCACTTGAATAGCTTGAATCCAGGAGAAACACTTGAACTTGGGAGGCGGAGTTTACAGTGAGCTGAGACCATGCCACTGCCTGGGTGACAGAGCAAGACTCTCTCTCAAAAACAAAACAAGACAAAACAAAAAGACCAAAAATCATTCCATGGAGTTAGCCCTGGAAAAGGTTGTAAGAGAATGTGTATGAGAACTAGAACGTCTGAGTAAAATGTAGGTAATGTGAGAAACCGTGTGACTTGCTTTAAATTCTATGATGTGAATAACAAATGCAAAAGTAAGGGCAGTGGGTGGTGCAGGCAAGGGAGGGTTGTAATAGGAGCAAAGAGGTTGGTAGTCTCCATTCTTCTGGACCCAGGACACCCACCCAATCCTCCTGATGGAGCTGGAAGCACCTTGGAGTAAAGAACAATGCATCAGGTGAACTCGACTTGATGCAACATTCAAATGTGAGCTCCACAAAGGCTGTGTGACTATGTGGGTTTCTTTTTACTGAACCTCCCACATCTAGGACAGTGCCTGACAGTAGACACTTAAAGTGTGCATTAAATGAATTAACTGTGACTTAAGGACATATCCTAGGTCTCTTCTTTGATTCTGATTAAGTGTTCCATGTGGACCTGTTGAACAACGATGGGATGTCCAGTCTTGGGTCTCTGTCCAGAGACAGAGATTTTTAGTTTACCAGCTTTTGTGAGATTGATCAATGGATAAAACCATATTCCCTCCTGAATCTGCAGAGCCGAGGACAGGACGGTGGGCGCAGGGGGAGACCACCAACATGTGTAAAAGAGCCCCGGAGCAGGAGGCAGGAGATTGGCGTCCTAGTCCCTGCCGTACACAATCGCTACGTGATGTTGACGAGTCACTACATCTCCACCCTGCCTTTTCAGTTCCTTCAGCTCTCTTGAGTTATTGGACTAGGGCAATAGTTCTTAAACTTGGCTGTGCATTAGAATCACCTGGGTAGCTTTAAATAGTCTTGATGTTCAGGCTCTACTCTAGATCAATGGAATCAGAGTCTCTGTTGGGGGCCCTCATCTTCAGTATTTATTTGCTTATTTTTATTTTTCAGAGACAGAGTCTTGCTATATTGCTCAGGCTGGAGTGCAGTGGCTATTCACAGGGGCCTTGAATGAATGGGCTCAAGCAATCTTCCAGGATTTTAAACTCTCTGTTTTAAGTGTGCAGCAAGTTTGAGAGCTGGTGGACCAGGAGACTCTTCCAGCTGAAACGTCTACGACTCCAGCTGGGGTGAGACTAAATCCTCTGTGAACCCACCACCTGAATTCCTCCTGGGGTGCTGGGCCGGCTCTCTCCCCTCAGCCCTGGGCTCTTACCTCTATGAGCTGGTAGCCTTGCTTGCAGGTAGCAATGAAGTAGTCACGGAACTGGTACTGAGGCTGCAGGTTCTGGATGATGGTGAACTCGTCTAGGGTCTTGGGCTGGGGGCACTTGATGACTGTTGGGGAGACCAGGGGGCATATTTATTTCAGAGCCACTTGTCCTTCCTTCTTCCCCCCTTTTCCCCATTGCTGGCCATCGAGGGAGGCCTGCAGGGAGCCTTACTCTCGGTGGTGTAGCGCAGCTTCCAGCCCCGGCTGTCCCCCGACTCACCTGTGAAGAACAGCAGATCCACAGCATTGCTGCTGGTGTCGAGGTCGGGGGGCCTTTGCTTCCCACAGAACTCGCCAATGTTCTTCCCGTTGGCATAGATCTAGTAGGGGAGGAGGGTTTTTTTTTTTCAGCTTGGACGTTTTTACACAGGGCCAACTGGGTAGTAGCCTGGTGGCCAGGGTGGTGGTGGTGGTGATGAAATCCTGCCTTATGTGTGTTTTCAGGGGAAGGTGAAAAGGGATCCCCATGACCCAATTCTAGTTGTGTGGGAACTTACCCAGCCCATGGGTGATGTTGGCCGTTCCTGCCCCAGCTGGCCAGGGGATCCAGGAGGAAGTTGGGACAAGAGGAGCCAAGTGCAGACAGAAGGGGAGGAAGGGGTCTTTCAGGGGTAGGACGGCTGTACCTGTAGCTGGTCATAGGGGCAGTGTACTTGCTGGTGGTCATCAATATCAAAAGGCTCCAGGAACTTGAGGTGCAGGGTGAGGCCCCGCTCCACCCGGATGCTGTAGTTGCAGCGCAGGTCAGGGGGGTAGGACCGAGGGTACTCCAGGCTGGAGATGTAGCCTGATGCCTCCGTGTACAGCTCGCTGCTGCACTCAGCTGTGAGAGCAGAGCCACAGGGCATTACGGGGGACTCCAGCTGGCCCAGCAAGCCCTGGCTCAACCCCTTCCCCTCTGCTACACCACTCTGGCTCACCCTGGCAGGAATGCCTGTCTTCCTGAAGCTCATAGCCTGGACGGCAGGAACAGAAGTAGCCTCCAACGTAGTTGTGACACAGGTGCTGGCACTGGGGCTGGGGATCCTCCTCCCCTGATTTGCTCCGGGAAGCACATTCATCAAGGTCTGGAAGGCATTCAGGAAGGAGGGTTAAGCTTCTGCTGGGAGACCTGAGTAGTGGCTCTGATCTTAGGGAGGTCACTCACCAGAGACCTAAAGACAAAGGCATCTTTAGGCCACCTGGACCTCCAGGCCTCTCCAATGCTCTCTGGGGACTGCTCCATGGGGACAGAGCCCAGGTTGACAGGCCTCGTTAGGAAAAGCTCTCTCGAGGGGAGGAACAAGGAAAGCCAGGCTTTCGGCTTCTTTGCATTCAAGATTCCCTTTCTTGGCCCCCCATTCAATATGGCTGAGGTCAGAGAAAAGGGATCCCTGGGGGGCTACTCACCCACAGCTTGGTAGTAGGCCAGGAAGCCCTTGTAGAACATGATGGTCCCATTCTCCTCGTTGGAGAAGTCTGTGTGGAAGGTCAGCAGCATCTTGTTCCCTTGGGACATAAATTCCTTCTTTCCCGGGGGGTTGCCCAGTGGAGAACCCAGTTGCCCACAGAACCTCCCCAGGCTTTTCTTATCAGCAGAGATCTGGTGGAAGAAGGACAGGGGGTAGGAAGAAGATCTGTTGCGGAGTGGCGCACGTGGTGGCTCAGTGATGGTCCTCCTTGTCTCGCCCAGAGTGCATCATGCACCACAATGGCTCTGGCTGGTCACTACCTGCTGGGCTCAGCTGCTGCAAACTTCCCCATGTGACTTTCAGCTGTTCCCTGAGTCTCCCACTGACTCACTCTTTGCGTGTTGTCCTGGACTGGGTACCTCACCCTTTCCCTGTTTTCTGCTCCTCTGGCAGGTTTCAGGTCCTTCTCCATCCCCACCACCTCCTATGGCCTGTTCCCCTGGGGTCCTGGTTGTCTGTACCCAGCCTTTACCTGCCCCTCATTCCCAGAGCTCAGACAGCTCCGCTTTATTTTCTGTCTTCAGATTCCACCTCAGCCTAATCAAACCATTCACACCTCGAGTGCCTCCTGATGCCCTCGGCGGAACATGAGCCCTGAAGCCCACCCATCTCAGTGTCAGCAGGCACTGCCTCGTCCCTCTTCCTTCCTCCTCACAGCCTCCTCAACCTCTCCTTGACTCTGCCAGCAAACGCCCTCCCCCAACACTGCACACTCGCCAAGTCTTCTGAGCCGGTAAGACGTGCCATTGTCATGTAATTCACGCATAATCTCCAGGGGTCTCCTGGGAATGGTAGTTGTTGGACCTTCGCAGGCTC
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Task1_train_17097
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A variant affecting Chromosome 12, within the gene GDF3 (growth differentiation factor 3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Microphthalmia, isolated, with coloboma 6
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AGCCATTAAATTAACTAACTAGGGCTAGGCGCAGTGGCTTACACCTGCACTCCCAGCACTTTGGGAGGCCAAGGCTGGTGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCGCCGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCTCATCTCTATTAAAAATACAAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCTGTGAGCAGAGACAATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTATCTCAAACAAACAAAAAAATTAGCCAGGTATGGTGGCCTATGCCTATAATGCCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACCGCACTCCAGCCTGGACGACAGAGCAAGACTCCGTCTCAAAAAGAAAAAAAAAAAAAAGATTATATGTACAATGTGATCTGCACTATAGGAATCATATGGAACATCAATAAAAGACCAGAACGGGGCTGGTCTAACTAGGGCCCGGTGCAGTGGCTTACACCTGCAATCCCAGCACTTCTGGAAGCCGAGGCTTCCTTTAAAAAAATTAATTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTACAACCGGTCTCCTGGGTTCAAGCGATTCCCGTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCATGCACCACCATGCCCGGCTAATTTTTTGTATTTTAGTAGAGTCGGGGTTTCGCCATGTTGGTCAATCTGGTCTCGATCTTCTGACCTCATAATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTCAAATATTTTTAATGTAATGCTGTTAGCATATCAGATTTGCCAGGGAGAGCCAGGGAGAGCTGCTGACCTTAGGAAAATTTGTTAGCTTCTCTAAACCTCAGCTTCTTTGTCTGTAAAGCATAAATAACAATACTTCCCTCAAAGACAGTGAAATGTTTGTAAAGTAACACGTAGGATAATGCCTGCCCATAATCGGCCATCAGTAAATGCCAGTGTCCATACTGTCATATGCATAATGAGTATGTTAGAACAGAAATTAACTATGATTATTAGGGCTCCAGGATGTGTGTGTGTGCACACGCATGCAAGTATGGGCATTGTTAATTATGGTGGGTTTTTCAGGAAGACAAATTATAAACACAGGTATATTGACATTTCGATCTAAGTGGTCATAAACCAGATAGGTAGTTTTATTAAAAGATTTACCCTAAGAACACTCCTTCTATTCCCATTTCTGACATCCTACCCACACCCACATTCATCGACTACCATGTCTTCATAATGTCGTAGAATGACATTGTCATTATTGTCCTGGTAGAGCATGGAAATGGGAGACAGCTTGGTGGGGATACACACAGCCTGGGGGATCTCTGGGTCAACGGCATGCATCAGGGCTTGCATGAAAGCATAATTGGAGCTGTTGAGAGAGATGGTCAGTGAGAAGGGACACTCTCCATGGCAGTAATTTGCCATGAACCCCTTGGGGGCAATGATCCACTTGTGCCAACCCAGGTCCCGGAAGTTAATGAATAGCTGGTGACGGTGGCAGAGGTTCTTACAAGAAAGCTTGGGGACAGGGATGGCTGCTCTCCTTTTCCGAGAAGGGTGGCACTGATCAGGGTTGAGAGTCACCACCAGCAGGGAAGCATGAAGGGAGCATCTTAGTCTGGCACAGGTGTCTTCAGGCTGAAAATTCACCCCTGAGTCTCTATCTTCTTTGACCAGTATCTCCAGGAATAACCCGAAATTTTTCCGGGGGTTGTCATTCCAATCCTTAGCTACATCCAGCAGGTTGAAGTGAACAGCACCTTGTGGCCATGGGACTGACCGCAACACAAACATTTTACCTGGCTTAGGGGTGGTCTGGCCCCACACATGAGGCTCCTGAACCAGGAACAGAGCCAGTTCCAGCTCTGGTCCCAGGTTATAGTAAGAATTGGGCCCCAAGTCCAGGCCCAGCTGGGCCAATGTCAACTGTTCCCTTTCTTTGATGGCAGACAGGTTAAAGTAGAGGAGCTTCTGCAGGCAGGAGGAAGCTTGGGAAATTTTCTTTGGGTAAAGAAAGAAACCTAGATGGGAAAAGAGACATGTCAGAGTCATAATGATGTATTTACTTCATATCCACCTATATAATAGAAATGCCAGACACCCACATATACAATATAAGGGCAGGGAAAGACACAAGCCCTGTCATTTGGGAGGGTTTGTTTCTCTATTCCTGAAAGCCAGAGGGTCCCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAGCCAGAGGTTCTTATCTTCACATCCACAGGTTCCCAGAGATTCCTGGATGAAATGTAGAGGGTGCACGAACTTAGATGGGAAAAATAATTACATCATTATTTCCACTAAACTCTAAATGAAATTTAGCATTTCCTTCATTATGAATATAGGTAACAAATCCCAGTAATATCATCAGGGCCTATGACATTGTTATCAATAAAATCATAGGTGTGTTCATACGTTTAGTTGTTGCAAATAACTTAAAATATTTATGGAGTCCAGGCAAGGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAGATGGGAGATTTGCTTGAGGCCAGGAGTTTGAGACCATCCTGGGCAACATAGTGAAACCCCATCTCTACAAAATAAATAAATAAATAAAAGAAAAGAAAAAGAAAAAAAAAAACAAAACACTTATGCTAACACTATGCCGAAATTTATGGTAGTTATAGGTATAGTCACCTCCCTAAATCTTGTTATGTATTACATGAATAAAGCATTATATATATTACTATATATACATTTGTCTTTAAAATATTTTAAAAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGATGAGGAGATCGAGACCATCCTGGCTAACACGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCAAGGTGGAGGGTGCCTGTAGTTCCAGCTACTCAGGAGGTTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGCCTCAAAAAATAAAAAATAAATAAAAAATAAAAAAAGTTTTAAAAAAATTTTAAAATGTATTTCAATATTTAATTGGTTTCTTTTGAAATCCTAAATATTTTACTTTAGGCACTTAAACCATTATTCTGAGAAAGAGTCAATAGACTGGGCCGGGACATGGTGGCTCACACCAGTGATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATAACCTGAGGTCAGGAGACCAGACTGACCAACATGGAGAAAACCTGTCTCTGCTAAAAATACAAAAAAATTAGCCGGGCAGGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGCATCACTTGAATTTGGGAGGCAGAGGTTGTGGTGAGCCGATATCACACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAGTTAA
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AGCCATTAAATTAACTAACTAGGGCTAGGCGCAGTGGCTTACACCTGCACTCCCAGCACTTTGGGAGGCCAAGGCTGGTGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCGCCGGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCTCATCTCTATTAAAAATACAAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCTGTGAGCAGAGACAATGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCTATCTCAAACAAACAAAAAAATTAGCCAGGTATGGTGGCCTATGCCTATAATGCCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACCGCACTCCAGCCTGGACGACAGAGCAAGACTCCGTCTCAAAAAGAAAAAAAAAAAAAAGATTATATGTACAATGTGATCTGCACTATAGGAATCATATGGAACATCAATAAAAGACCAGAACGGGGCTGGTCTAACTAGGGCCCGGTGCAGTGGCTTACACCTGCAATCCCAGCACTTCTGGAAGCCGAGGCTTCCTTTAAAAAAATTAATTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTACAACCGGTCTCCTGGGTTCAAGCGATTCCCGTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCATGCACCACCATGCCCGGCTAATTTTTTGTATTTTAGTAGAGTCGGGGTTTCGCCATGTTGGTCAATCTGGTCTCGATCTTCTGACCTCATAATCCACCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTCAAATATTTTTAATGTAATGCTGTTAGCATATCAGATTTGCCAGGGAGAGCCAGGGAGAGCTGCTGACCTTAGGAAAATTTGTTAGCTTCTCTAAACCTCAGCTTCTTTGTCTGTAAAGCATAAATAACAATACTTCCCTCAAAGACAGTGAAATGTTTGTAAAGTAACACGTAGGATAATGCCTGCCCATAATCGGCCATCAGTAAATGCCAGTGTCCATACTGTCATATGCATAATGAGTATGTTAGAACAGAAATTAACTATGATTATTAGGGCTCCAGGATGTGTGTGTGTGCACACGCATGCAAGTATGGGCATTGTTAATTATGGTGGGTTTTTCAGGAAGACAAATTATAAACACAGGTATATTGACATTTCGATCTAAGTGGTCATAAACCAGATAGGTAGTTTTATTAAAAGATTTACCCTAAGAACACTCCTTCTATTCCCATTTCTGACATCCTACCCACACCCACATTCATCGACTACCATGTCTTCATAATGTCGTAGAATGACATTGTCATTATTGTCCTGGTAGAGCATGGAAATGGGAGACAGCTTGGTGGGGATACACACAGCCTGGGGGATCTCTGGGTCAACGGCATGCATCAGGGCTTGCATGAAAGCATAATTGGAGCTGTTGAGAGAGATGGTCAGTGAGAAGGGACACTCTCCATGGCAGTAATTTGCCATGAACCCCTTGGGGGCAATGATCCACTTGTGCCAACCCAGGTCCCGGAAGTTAATGAATAGCTGGTGACGGTGGCAGAGGTTCTTACAAGAAAGCTTGGGGACAGGGATGGCTGCTCTCCTTTTCCGAGAAGGGTGGCACTGATCAGGGTTGAGAGTCACCACCAGCAGGGAAGCATGAAGGGAGCATCTTAGTCTGGCACAGGTGTCTTCAGGCTGAAAATTCACCCCTGAGTCTCTATCTTCTTTGACCAGTATCTCCAGGAATAACCCGAAATTTTTCTGGGGGTTGTCATTCCAATCCTTAGCTACATCCAGCAGGTTGAAGTGAACAGCACCTTGTGGCCATGGGACTGACCGCAACACAAACATTTTACCTGGCTTAGGGGTGGTCTGGCCCCACACATGAGGCTCCTGAACCAGGAACAGAGCCAGTTCCAGCTCTGGTCCCAGGTTATAGTAAGAATTGGGCCCCAAGTCCAGGCCCAGCTGGGCCAATGTCAACTGTTCCCTTTCTTTGATGGCAGACAGGTTAAAGTAGAGGAGCTTCTGCAGGCAGGAGGAAGCTTGGGAAATTTTCTTTGGGTAAAGAAAGAAACCTAGATGGGAAAAGAGACATGTCAGAGTCATAATGATGTATTTACTTCATATCCACCTATATAATAGAAATGCCAGACACCCACATATACAATATAAGGGCAGGGAAAGACACAAGCCCTGTCATTTGGGAGGGTTTGTTTCTCTATTCCTGAAAGCCAGAGGGTCCCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAGCCAGAGGTTCTTATCTTCACATCCACAGGTTCCCAGAGATTCCTGGATGAAATGTAGAGGGTGCACGAACTTAGATGGGAAAAATAATTACATCATTATTTCCACTAAACTCTAAATGAAATTTAGCATTTCCTTCATTATGAATATAGGTAACAAATCCCAGTAATATCATCAGGGCCTATGACATTGTTATCAATAAAATCATAGGTGTGTTCATACGTTTAGTTGTTGCAAATAACTTAAAATATTTATGGAGTCCAGGCAAGGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAGATGGGAGATTTGCTTGAGGCCAGGAGTTTGAGACCATCCTGGGCAACATAGTGAAACCCCATCTCTACAAAATAAATAAATAAATAAAAGAAAAGAAAAAGAAAAAAAAAAACAAAACACTTATGCTAACACTATGCCGAAATTTATGGTAGTTATAGGTATAGTCACCTCCCTAAATCTTGTTATGTATTACATGAATAAAGCATTATATATATTACTATATATACATTTGTCTTTAAAATATTTTAAAAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGATGAGGAGATCGAGACCATCCTGGCTAACACGGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCAAGGTGGAGGGTGCCTGTAGTTCCAGCTACTCAGGAGGTTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGCCTCAAAAAATAAAAAATAAATAAAAAATAAAAAAAGTTTTAAAAAAATTTTAAAATGTATTTCAATATTTAATTGGTTTCTTTTGAAATCCTAAATATTTTACTTTAGGCACTTAAACCATTATTCTGAGAAAGAGTCAATAGACTGGGCCGGGACATGGTGGCTCACACCAGTGATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATAACCTGAGGTCAGGAGACCAGACTGACCAACATGGAGAAAACCTGTCTCTGCTAAAAATACAAAAAAATTAGCCGGGCAGGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGCATCACTTGAATTTGGGAGGCAGAGGTTGTGGTGAGCCGATATCACACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAGTTAA
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Task1_train_17098
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Given a variant located on Chromosome 12 and affecting AICDA (activation induced cytidine deaminase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Hyper-IgM syndrome type 2
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GACAGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAACGGCACGATCTCAGCTTACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCTACCACGCCTGGCTAATTTTTGCATTTTGAGTACAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCACAGGTGATCCGCCCGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCTCTCTCTTTCTTTTTTTTTTTTTTTTTTTTGAGAGACAGGATCTTGTTATGTTGCCCAGGCTGGCCTTGAACACCTGTGTTCAAGCCATCCTCCCTCCTCAACCTCCCAAGCAGCTAGAACTATGAGCGTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACAGTCCTCCTGCCCATTTTAAGATCCTTTATTAAAGTAGCTTGAAGGTGACCATGCATGGTCTATACCTCCATCCCCACCCATAACAATCTTCTTTTGTACAAACATAAAAACATGCTTCTGCTGATTAAAACATACAGCGCATGATTGGATATTAATGCTTTGGAGAGATGGTTTGGGGTCACAATCACCCAGATACTCTCATTAGGAGGTCCTATAGATCATGGCCTGATGGAAGAGTTTGTGTTACTTGAAAGTAAACGTCAAGGGAAAAGAATAGAAAAATCTATCACTAACACCACTGTTAACTCAAATGAATCAAATAATAAAGGATGTTGATATAAAAACATTTGATCCTCTCACCATGCTTTTTAGGATCTACCTTCTGCTCTCATCCTACCTAAAAGTCATAGAAAAACGTTGACACTTTAGGATGCTCCCAGGTCCTGCAGTTCTGTTATTCCCAGTAGGGGACAATGTTGCATTCAAAACTGCACCAATTGCAGCACGTCCCTGGCCAGACCTGTGTTCCTTCTCTATTTTCAAGACATAGATCTTTTTAAAGAGTCGTATATAAATATTTTTTCTGTAAACTCTAAGAAAGTGAGAGTTGAAGAATAAAAACAGAGAAGACTTGAAGGACTGTTTTTTATCCACTGTCTTCAGCAGAGATATTTCATCGTGTGTGACATTCCTGGAAGTTGCTATCAAAGTCCCAAAGTACGAAATGCGTCTCGTAAGTCATCAACCTCATACAGGGGCTGTAGAGAAAGAGAGAAGCAAATTGAGTGAATGGCTTCAAAACGAGGTTGGGGGTCGGTGGGGCCGGAGAGTCTTCTAAACTGAGTGGATGGCTTTGTAACATGTTGGAAGAAAGTAAATTGGGAAAGAGTTTTTTTGGGTTTTTTGTTTGTTTGTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAGAATTCTGACCAGGAAGGAAACGCAACCCTGGGGAGAGACAGAAATTTAAAGATGTGAAACAACAAAAGAAAGAAAAGGGAGGGAAAAGGAACCTTAGCAGAGGGCTCTGAATGGTGAAACAGCAGAAGAAAAAGCTGATGTGGAGGAGAAATAAAGTTTTCATCAGATGAAAACTGAGAGTGATTGAACAATAAGAAAATATAAGAAATATACGAAACTCCAAAAAAGACTGTAGAGAAAGAAAGAAAATTTAAAAAGCGAGGAAGCCCCTTACCAAAAGGATGCGCCGAAGCTGTCTGGAGAGACGAACTGAATTTTCATGCAGCCCTTCCCAGGCTTTGAAAGTTCTTTCGTGGTTTTCTACAAAAGTATTCCAGCAGTAAAAATAATCTTCAAAAAAAAAAAAAGGAAAAAAAGGCGGGGATATGGGGGTAGAAGACAGTTCAGGTTCCAAATCGAGGGGAAAGAAGCAACCCTGGCCCCATTTTCTCATTTCCTCGGGGCCTTGTCTCTGAGCCATTCACTCTTTTCTCTGCTTCTAATCTTTAATTTCGGCTCCAGAGGTGAACCAGAATCCCCGCCCACTTCTTCCCCTCGAGCTTCCCCACTAACTCATTCATTCCGCATCGCAATCCCGAATGCGGGCTGCTGCACTGCGCCTGCGCGGAAGGCCCTTTCGCACCTTTGAAGGTCATGATGGCTATTTGCACCCCGGCGCGGTGCAGCCGCCGCAGCCCCTCGGGCTCAGCCTTGCGGTCCTCACAGAAGTAGAGGCGCGCGGTGAAGATCCTCAGACTGAGGTTGGGGTTCCCTCGCAGAAAGTCGGCCACATGTCGGGCACAGTCGTAGCAGGGGCTCCAGGAGGTGAACCAGGTGACGCGGTAGCAGCGGCCAGGGTCTAGGTCCCAGTCCGAGATGTAGCGGAGGAAGAGCAATTCCACGTGGCAGCCGTTCTGGAGAGACAGAGAGGACCACGCTAAAATTCACTGACTTTTATTGCGGCTCTGGTAGCCTTAGTCATTGTCTCCTGCAATGATCTTTGGGGATGCTTGCAGCTATTGTCCTTGTGTTACAGAGAGGCTAAGCAACTTGCTCAAAAGAGCACACCAGTAGGTAGAGCTGAACCCTTGGCAGCACTAGTCCTGCAGAGTGAAGGAAGGCTATGGGTTTTTGTGGAATGAGGAAGACGAAGTGCGCTGAGTTGGGAGGAAGCAGCATCACACTACCTCACCGAAGATTTAATTTGTGTTTATGAAGTTGCTTTTTGCACCTTTTGAGAAGGAAAATGGCTAGAAGTGCCTGTTGATGTAACATTGTGGAAATATACCTGGACCACTAGGTGGAGGCAGGACAGTTTATGAGGACCATTTGGGAGGATCTGAAAAGGGGAAATAGATTTTGGTAAAGCAGACAGATGGGTATTGTAAGAGAAGTAATAGGCACTGCCATGAGAAGTAAATGAAAGTGCTTGATAAAATCAAAGCCTTCTGAAATAGAATGTGTCATGTCACCGAATAGGAAGGAGATTGGGATGTATTCAATACAAATGTAGGCAAAGAAAATTGCATGGTAATATAACCATCAAACAACGAGCCAGACGATGACCTTCCACCCCACGGATGCTTCCCTGAGATTCCACCAAGCCCAGACGTCACAGCGTGTTAGGAGAGAGGAGATACCCGTGGGCAGAAGTTTATGTAAACCCATCTGGATTTTGGTGAAGAAGTCTCTTGGAAATGTAATTCTCTCGGGTAGCCGAAAGATCAATTTAATTAATCATCAGCCGAGGCTTCTCTGAGTTTTCTGGGGATCACCATGTTGAATGTATTCACTGGCCTACGACCCATGTGAGTAGGAGGGAAAAGAAATCATTTGGAAGACAGAATTGAGCCACCGTTAATTTTTTCCCAAATTCTTCTTCCTTAATTTTCAAAAATGCTTAAGACACAATTTGTTTTTCACATTTAAAATTTTTGCTTGGACAAGCTGATAATATTCTCCCATATAAAAATGCTTTTAGCTTAATTAATCTCAAAGGCAATTCAGATGCTGAGGAAAGCTGGTAAACAGTTTGGGAGCAGTTGTTCTTGGCACTGAAGGAAGGAGTGGTATTAGGGTGCCCAGCATTACTGGGGAGGAATTAAATCACATATTTTGGGCCATGTCTAATATGGGTGCATGGACATGGAAAAAGAAATAAAAAAAAGGATTTGAGGAATGTGATAGAGACACAAATGCCAAAAAAGGATGGAAGTAATACCATCAGCAGGTGGCTCTAAAAGCACTCACAGTTGACCATTAAACTGCTTGCAAAGCCGACTTTAATTGATACCTTATTGCGAAGATAACCAAAGTCCAGTGAAAAGGATGTAGCACTGTCACGCCTCTTCACTACGTAGCACAGGTAGGTCTC
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GACAGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAACGGCACGATCTCAGCTTACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCTACCACGCCTGGCTAATTTTTGCATTTTGAGTACAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCACAGGTGATCCGCCCGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCTCTCTCTTTCTTTTTTTTTTTTTTTTTTTTGAGAGACAGGATCTTGTTATGTTGCCCAGGCTGGCCTTGAACACCTGTGTTCAAGCCATCCTCCCTCCTCAACCTCCCAAGCAGCTAGAACTATGAGCGTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACAGTCCTCCTGCCCATTTTAAGATCCTTTATTAAAGTAGCTTGAAGGTGACCATGCATGGTCTATACCTCCATCCCCACCCATAACAATCTTCTTTTGTACAAACATAAAAACATGCTTCTGCTGATTAAAACATACAGCGCATGATTGGATATTAATGCTTTGGAGAGATGGTTTGGGGTCACAATCACCCAGATACTCTCATTAGGAGGTCCTATAGATCATGGCCTGATGGAAGAGTTTGTGTTACTTGAAAGTAAACGTCAAGGGAAAAGAATAGAAAAATCTATCACTAACACCACTGTTAACTCAAATGAATCAAATAATAAAGGATGTTGATATAAAAACATTTGATCCTCTCACCATGCTTTTTAGGATCTACCTTCTGCTCTCATCCTACCTAAAAGTCATAGAAAAACGTTGACACTTTAGGATGCTCCCAGGTCCTGCAGTTCTGTTATTCCCAGTAGGGGACAATGTTGCATTCAAAACTGCACCAATTGCAGCACGTCCCTGGCCAGACCTGTGTTCCTTCTCTATTTTCAAGACATAGATCTTTTTAAAGAGTCGTATATAAATATTTTTTCTGTAAACTCTAAGAAAGTGAGAGTTGAAGAATAAAAACAGAGAAGACTTGAAGGACTGTTTTTTATCCACTGTCTTCAGCAGAGATATTTCATCGTGTGTGACATTCCTGGAAGTTGCTATCAAAGTCCCAAAGTACGAAATGCGTCTCGTAAGTCATCAACCTCATACAGGGGCTGTAGAGAAAGAGAGAAGCAAATTGAGTGAATGGCTTCAAAACGAGGTTGGGGGTCGGTGGGGCCGGAGAGTCTTCTAAACTGAGTGGATGGCTTTGTAACATGTTGGAAGAAAGTAAATTGGGAAAGAGTTTTTTTGGGTTTTTTGTTTGTTTGTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAGAATTCTGACCAGGAAGGAAACGCAACCCTGGGGAGAGACAGAAATTTAAAGATGTGAAACAACAAAAGAAAGAAAAGGGAGGGAAAAGGAACCTTAGCAGAGGGCTCTGAATGGTGAAACAGCAGAAGAAAAAGCTGATGTGGAGGAGAAATAAAGTTTTCATCAGATGAAAACTGAGAGTGATTGAACAATAAGAAAATATAAGAAATATACGAAACTCCAAAAAAGACTGTAGAGAAAGAAAGAAAATTTAAAAAGCGAGGAAGCCCCTTACCAAAAGGATGCGCCGAAGCTGTCTGGAGAGACGAACTGAATTTTCATGCAGCCCTTCCCAGGCTTTGAAAGTTCTTTCGTGGTTTTCTACAGAAGTATTCCAGCAGTAAAAATAATCTTCAAAAAAAAAAAAAGGAAAAAAAGGCGGGGATATGGGGGTAGAAGACAGTTCAGGTTCCAAATCGAGGGGAAAGAAGCAACCCTGGCCCCATTTTCTCATTTCCTCGGGGCCTTGTCTCTGAGCCATTCACTCTTTTCTCTGCTTCTAATCTTTAATTTCGGCTCCAGAGGTGAACCAGAATCCCCGCCCACTTCTTCCCCTCGAGCTTCCCCACTAACTCATTCATTCCGCATCGCAATCCCGAATGCGGGCTGCTGCACTGCGCCTGCGCGGAAGGCCCTTTCGCACCTTTGAAGGTCATGATGGCTATTTGCACCCCGGCGCGGTGCAGCCGCCGCAGCCCCTCGGGCTCAGCCTTGCGGTCCTCACAGAAGTAGAGGCGCGCGGTGAAGATCCTCAGACTGAGGTTGGGGTTCCCTCGCAGAAAGTCGGCCACATGTCGGGCACAGTCGTAGCAGGGGCTCCAGGAGGTGAACCAGGTGACGCGGTAGCAGCGGCCAGGGTCTAGGTCCCAGTCCGAGATGTAGCGGAGGAAGAGCAATTCCACGTGGCAGCCGTTCTGGAGAGACAGAGAGGACCACGCTAAAATTCACTGACTTTTATTGCGGCTCTGGTAGCCTTAGTCATTGTCTCCTGCAATGATCTTTGGGGATGCTTGCAGCTATTGTCCTTGTGTTACAGAGAGGCTAAGCAACTTGCTCAAAAGAGCACACCAGTAGGTAGAGCTGAACCCTTGGCAGCACTAGTCCTGCAGAGTGAAGGAAGGCTATGGGTTTTTGTGGAATGAGGAAGACGAAGTGCGCTGAGTTGGGAGGAAGCAGCATCACACTACCTCACCGAAGATTTAATTTGTGTTTATGAAGTTGCTTTTTGCACCTTTTGAGAAGGAAAATGGCTAGAAGTGCCTGTTGATGTAACATTGTGGAAATATACCTGGACCACTAGGTGGAGGCAGGACAGTTTATGAGGACCATTTGGGAGGATCTGAAAAGGGGAAATAGATTTTGGTAAAGCAGACAGATGGGTATTGTAAGAGAAGTAATAGGCACTGCCATGAGAAGTAAATGAAAGTGCTTGATAAAATCAAAGCCTTCTGAAATAGAATGTGTCATGTCACCGAATAGGAAGGAGATTGGGATGTATTCAATACAAATGTAGGCAAAGAAAATTGCATGGTAATATAACCATCAAACAACGAGCCAGACGATGACCTTCCACCCCACGGATGCTTCCCTGAGATTCCACCAAGCCCAGACGTCACAGCGTGTTAGGAGAGAGGAGATACCCGTGGGCAGAAGTTTATGTAAACCCATCTGGATTTTGGTGAAGAAGTCTCTTGGAAATGTAATTCTCTCGGGTAGCCGAAAGATCAATTTAATTAATCATCAGCCGAGGCTTCTCTGAGTTTTCTGGGGATCACCATGTTGAATGTATTCACTGGCCTACGACCCATGTGAGTAGGAGGGAAAAGAAATCATTTGGAAGACAGAATTGAGCCACCGTTAATTTTTTCCCAAATTCTTCTTCCTTAATTTTCAAAAATGCTTAAGACACAATTTGTTTTTCACATTTAAAATTTTTGCTTGGACAAGCTGATAATATTCTCCCATATAAAAATGCTTTTAGCTTAATTAATCTCAAAGGCAATTCAGATGCTGAGGAAAGCTGGTAAACAGTTTGGGAGCAGTTGTTCTTGGCACTGAAGGAAGGAGTGGTATTAGGGTGCCCAGCATTACTGGGGAGGAATTAAATCACATATTTTGGGCCATGTCTAATATGGGTGCATGGACATGGAAAAAGAAATAAAAAAAAGGATTTGAGGAATGTGATAGAGACACAAATGCCAAAAAAGGATGGAAGTAATACCATCAGCAGGTGGCTCTAAAAGCACTCACAGTTGACCATTAAACTGCTTGCAAAGCCGACTTTAATTGATACCTTATTGCGAAGATAACCAAAGTCCAGTGAAAAGGATGTAGCACTGTCACGCCTCTTCACTACGTAGCACAGGTAGGTCTC
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Task1_train_17099
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Assess the clinical impact of this variant on gene AICDA (activation induced cytidine deaminase), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hyper-IgM syndrome type 2
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TTATGTTGCCCAGGCTGGCCTTGAACACCTGTGTTCAAGCCATCCTCCCTCCTCAACCTCCCAAGCAGCTAGAACTATGAGCGTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACAGTCCTCCTGCCCATTTTAAGATCCTTTATTAAAGTAGCTTGAAGGTGACCATGCATGGTCTATACCTCCATCCCCACCCATAACAATCTTCTTTTGTACAAACATAAAAACATGCTTCTGCTGATTAAAACATACAGCGCATGATTGGATATTAATGCTTTGGAGAGATGGTTTGGGGTCACAATCACCCAGATACTCTCATTAGGAGGTCCTATAGATCATGGCCTGATGGAAGAGTTTGTGTTACTTGAAAGTAAACGTCAAGGGAAAAGAATAGAAAAATCTATCACTAACACCACTGTTAACTCAAATGAATCAAATAATAAAGGATGTTGATATAAAAACATTTGATCCTCTCACCATGCTTTTTAGGATCTACCTTCTGCTCTCATCCTACCTAAAAGTCATAGAAAAACGTTGACACTTTAGGATGCTCCCAGGTCCTGCAGTTCTGTTATTCCCAGTAGGGGACAATGTTGCATTCAAAACTGCACCAATTGCAGCACGTCCCTGGCCAGACCTGTGTTCCTTCTCTATTTTCAAGACATAGATCTTTTTAAAGAGTCGTATATAAATATTTTTTCTGTAAACTCTAAGAAAGTGAGAGTTGAAGAATAAAAACAGAGAAGACTTGAAGGACTGTTTTTTATCCACTGTCTTCAGCAGAGATATTTCATCGTGTGTGACATTCCTGGAAGTTGCTATCAAAGTCCCAAAGTACGAAATGCGTCTCGTAAGTCATCAACCTCATACAGGGGCTGTAGAGAAAGAGAGAAGCAAATTGAGTGAATGGCTTCAAAACGAGGTTGGGGGTCGGTGGGGCCGGAGAGTCTTCTAAACTGAGTGGATGGCTTTGTAACATGTTGGAAGAAAGTAAATTGGGAAAGAGTTTTTTTGGGTTTTTTGTTTGTTTGTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAGAATTCTGACCAGGAAGGAAACGCAACCCTGGGGAGAGACAGAAATTTAAAGATGTGAAACAACAAAAGAAAGAAAAGGGAGGGAAAAGGAACCTTAGCAGAGGGCTCTGAATGGTGAAACAGCAGAAGAAAAAGCTGATGTGGAGGAGAAATAAAGTTTTCATCAGATGAAAACTGAGAGTGATTGAACAATAAGAAAATATAAGAAATATACGAAACTCCAAAAAAGACTGTAGAGAAAGAAAGAAAATTTAAAAAGCGAGGAAGCCCCTTACCAAAAGGATGCGCCGAAGCTGTCTGGAGAGACGAACTGAATTTTCATGCAGCCCTTCCCAGGCTTTGAAAGTTCTTTCGTGGTTTTCTACAAAAGTATTCCAGCAGTAAAAATAATCTTCAAAAAAAAAAAAAGGAAAAAAAGGCGGGGATATGGGGGTAGAAGACAGTTCAGGTTCCAAATCGAGGGGAAAGAAGCAACCCTGGCCCCATTTTCTCATTTCCTCGGGGCCTTGTCTCTGAGCCATTCACTCTTTTCTCTGCTTCTAATCTTTAATTTCGGCTCCAGAGGTGAACCAGAATCCCCGCCCACTTCTTCCCCTCGAGCTTCCCCACTAACTCATTCATTCCGCATCGCAATCCCGAATGCGGGCTGCTGCACTGCGCCTGCGCGGAAGGCCCTTTCGCACCTTTGAAGGTCATGATGGCTATTTGCACCCCGGCGCGGTGCAGCCGCCGCAGCCCCTCGGGCTCAGCCTTGCGGTCCTCACAGAAGTAGAGGCGCGCGGTGAAGATCCTCAGACTGAGGTTGGGGTTCCCTCGCAGAAAGTCGGCCACATGTCGGGCACAGTCGTAGCAGGGGCTCCAGGAGGTGAACCAGGTGACGCGGTAGCAGCGGCCAGGGTCTAGGTCCCAGTCCGAGATGTAGCGGAGGAAGAGCAATTCCACGTGGCAGCCGTTCTGGAGAGACAGAGAGGACCACGCTAAAATTCACTGACTTTTATTGCGGCTCTGGTAGCCTTAGTCATTGTCTCCTGCAATGATCTTTGGGGATGCTTGCAGCTATTGTCCTTGTGTTACAGAGAGGCTAAGCAACTTGCTCAAAAGAGCACACCAGTAGGTAGAGCTGAACCCTTGGCAGCACTAGTCCTGCAGAGTGAAGGAAGGCTATGGGTTTTTGTGGAATGAGGAAGACGAAGTGCGCTGAGTTGGGAGGAAGCAGCATCACACTACCTCACCGAAGATTTAATTTGTGTTTATGAAGTTGCTTTTTGCACCTTTTGAGAAGGAAAATGGCTAGAAGTGCCTGTTGATGTAACATTGTGGAAATATACCTGGACCACTAGGTGGAGGCAGGACAGTTTATGAGGACCATTTGGGAGGATCTGAAAAGGGGAAATAGATTTTGGTAAAGCAGACAGATGGGTATTGTAAGAGAAGTAATAGGCACTGCCATGAGAAGTAAATGAAAGTGCTTGATAAAATCAAAGCCTTCTGAAATAGAATGTGTCATGTCACCGAATAGGAAGGAGATTGGGATGTATTCAATACAAATGTAGGCAAAGAAAATTGCATGGTAATATAACCATCAAACAACGAGCCAGACGATGACCTTCCACCCCACGGATGCTTCCCTGAGATTCCACCAAGCCCAGACGTCACAGCGTGTTAGGAGAGAGGAGATACCCGTGGGCAGAAGTTTATGTAAACCCATCTGGATTTTGGTGAAGAAGTCTCTTGGAAATGTAATTCTCTCGGGTAGCCGAAAGATCAATTTAATTAATCATCAGCCGAGGCTTCTCTGAGTTTTCTGGGGATCACCATGTTGAATGTATTCACTGGCCTACGACCCATGTGAGTAGGAGGGAAAAGAAATCATTTGGAAGACAGAATTGAGCCACCGTTAATTTTTTCCCAAATTCTTCTTCCTTAATTTTCAAAAATGCTTAAGACACAATTTGTTTTTCACATTTAAAATTTTTGCTTGGACAAGCTGATAATATTCTCCCATATAAAAATGCTTTTAGCTTAATTAATCTCAAAGGCAATTCAGATGCTGAGGAAAGCTGGTAAACAGTTTGGGAGCAGTTGTTCTTGGCACTGAAGGAAGGAGTGGTATTAGGGTGCCCAGCATTACTGGGGAGGAATTAAATCACATATTTTGGGCCATGTCTAATATGGGTGCATGGACATGGAAAAAGAAATAAAAAAAAGGATTTGAGGAATGTGATAGAGACACAAATGCCAAAAAAGGATGGAAGTAATACCATCAGCAGGTGGCTCTAAAAGCACTCACAGTTGACCATTAAACTGCTTGCAAAGCCGACTTTAATTGATACCTTATTGCGAAGATAACCAAAGTCCAGTGAAAAGGATGTAGCACTGTCACGCCTCTTCACTACGTAGCACAGGTAGGTCTCACGCCGACCCTTAGCCCAGCGGACATTTTTGAATTGGTAAAGAAACTTCCTCCGGTTCATCAAGAGGCTGTGGGTGAGAGGAGGGAGAGAAAATGCAAGAGTACAGTTTATAATCTGGTCACTCTGGATTTTCCTTCAGCTTTTTAAGGAAGTCATTACTTGGGCTAAACCAAAGAAGATGCTCTGACTTCCTCTGCTGGCTGCCTGAGCCCTCCTGAGCCCTGCTGAGCCTGGAATCCATCATAAACTCCTTTTCCTGCTTATATTTAAGGCCAATTGAGAGATACTCATCAAGGACCCCAAACCCTTACCCACAAGACAGTCACCT
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TTATGTTGCCCAGGCTGGCCTTGAACACCTGTGTTCAAGCCATCCTCCCTCCTCAACCTCCCAAGCAGCTAGAACTATGAGCGTGTGCCACGGTTCGCAGCTTTATCATTCTGTTTTGTCACAACTCTCTTATATAGTTAATATACCTTTGGGAGAAGCATCACACACATACAAAATGTAGCAAACCTTGACCTGATTGGCATTTCTGAGATGAAGAGACCCACGAGAGCCAATAGATTTTCCTCTCCCCAACATTCAAGCAACTTCCTTCCAATTGTTTGCTAATTATGATATGTGAAGTTTGTGGGTGTTTCTAAATTAGGGACTTCCTTAAAAGAGTTTGCGTTTCCAGAAGATTTGCTACTTCAGACATCAACCCATTATTAGGGTGTCTTGTTCACAGTCCTCCTGCCCATTTTAAGATCCTTTATTAAAGTAGCTTGAAGGTGACCATGCATGGTCTATACCTCCATCCCCACCCATAACAATCTTCTTTTGTACAAACATAAAAACATGCTTCTGCTGATTAAAACATACAGCGCATGATTGGATATTAATGCTTTGGAGAGATGGTTTGGGGTCACAATCACCCAGATACTCTCATTAGGAGGTCCTATAGATCATGGCCTGATGGAAGAGTTTGTGTTACTTGAAAGTAAACGTCAAGGGAAAAGAATAGAAAAATCTATCACTAACACCACTGTTAACTCAAATGAATCAAATAATAAAGGATGTTGATATAAAAACATTTGATCCTCTCACCATGCTTTTTAGGATCTACCTTCTGCTCTCATCCTACCTAAAAGTCATAGAAAAACGTTGACACTTTAGGATGCTCCCAGGTCCTGCAGTTCTGTTATTCCCAGTAGGGGACAATGTTGCATTCAAAACTGCACCAATTGCAGCACGTCCCTGGCCAGACCTGTGTTCCTTCTCTATTTTCAAGACATAGATCTTTTTAAAGAGTCGTATATAAATATTTTTTCTGTAAACTCTAAGAAAGTGAGAGTTGAAGAATAAAAACAGAGAAGACTTGAAGGACTGTTTTTTATCCACTGTCTTCAGCAGAGATATTTCATCGTGTGTGACATTCCTGGAAGTTGCTATCAAAGTCCCAAAGTACGAAATGCGTCTCGTAAGTCATCAACCTCATACAGGGGCTGTAGAGAAAGAGAGAAGCAAATTGAGTGAATGGCTTCAAAACGAGGTTGGGGGTCGGTGGGGCCGGAGAGTCTTCTAAACTGAGTGGATGGCTTTGTAACATGTTGGAAGAAAGTAAATTGGGAAAGAGTTTTTTTGGGTTTTTTGTTTGTTTGTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAAAGAATTCTGACCAGGAAGGAAACGCAACCCTGGGGAGAGACAGAAATTTAAAGATGTGAAACAACAAAAGAAAGAAAAGGGAGGGAAAAGGAACCTTAGCAGAGGGCTCTGAATGGTGAAACAGCAGAAGAAAAAGCTGATGTGGAGGAGAAATAAAGTTTTCATCAGATGAAAACTGAGAGTGATTGAACAATAAGAAAATATAAGAAATATACGAAACTCCAAAAAAGACTGTAGAGAAAGAAAGAAAATTTAAAAAGCGAGGAAGCCCCTTACCAAAAGGATGCGCCGAAGCTGTCTGGAGAGACGAACTGAATTTTCATGCAGCCCTTCCCAGGCTTTGAAAGTTCTTTCGTGGTTTTCTACAAAAGTATTCCAGCAGTAAAAATAATCTTCAAAAAAAAAAAAAGGAAAAAAAGGCGGGGATATGGGGGTAGAAGACAGTTCAGGTTCCAAATCGAGGGGAAAGAAGCAACCCTGGCCCCATTTTCTCATTTCCTCGGGGCCTTGTCTCTGAGCCATTCACTCTTTTCTCTGCTTCTAATCTTTAATTTCGGCTCCAGAGGTGAACCAGAATCCCCGCCCACTTCTTCCCCTCGAGCTTCCCCACTAACTCATTCATTCCGCATCGCAATCCCGAATGCGGGCTGCTGCACTGCGCCTGCGCGGAAGGCCCTTTCGCACCTTTGAAGGTCGTGATGGCTATTTGCACCCCGGCGCGGTGCAGCCGCCGCAGCCCCTCGGGCTCAGCCTTGCGGTCCTCACAGAAGTAGAGGCGCGCGGTGAAGATCCTCAGACTGAGGTTGGGGTTCCCTCGCAGAAAGTCGGCCACATGTCGGGCACAGTCGTAGCAGGGGCTCCAGGAGGTGAACCAGGTGACGCGGTAGCAGCGGCCAGGGTCTAGGTCCCAGTCCGAGATGTAGCGGAGGAAGAGCAATTCCACGTGGCAGCCGTTCTGGAGAGACAGAGAGGACCACGCTAAAATTCACTGACTTTTATTGCGGCTCTGGTAGCCTTAGTCATTGTCTCCTGCAATGATCTTTGGGGATGCTTGCAGCTATTGTCCTTGTGTTACAGAGAGGCTAAGCAACTTGCTCAAAAGAGCACACCAGTAGGTAGAGCTGAACCCTTGGCAGCACTAGTCCTGCAGAGTGAAGGAAGGCTATGGGTTTTTGTGGAATGAGGAAGACGAAGTGCGCTGAGTTGGGAGGAAGCAGCATCACACTACCTCACCGAAGATTTAATTTGTGTTTATGAAGTTGCTTTTTGCACCTTTTGAGAAGGAAAATGGCTAGAAGTGCCTGTTGATGTAACATTGTGGAAATATACCTGGACCACTAGGTGGAGGCAGGACAGTTTATGAGGACCATTTGGGAGGATCTGAAAAGGGGAAATAGATTTTGGTAAAGCAGACAGATGGGTATTGTAAGAGAAGTAATAGGCACTGCCATGAGAAGTAAATGAAAGTGCTTGATAAAATCAAAGCCTTCTGAAATAGAATGTGTCATGTCACCGAATAGGAAGGAGATTGGGATGTATTCAATACAAATGTAGGCAAAGAAAATTGCATGGTAATATAACCATCAAACAACGAGCCAGACGATGACCTTCCACCCCACGGATGCTTCCCTGAGATTCCACCAAGCCCAGACGTCACAGCGTGTTAGGAGAGAGGAGATACCCGTGGGCAGAAGTTTATGTAAACCCATCTGGATTTTGGTGAAGAAGTCTCTTGGAAATGTAATTCTCTCGGGTAGCCGAAAGATCAATTTAATTAATCATCAGCCGAGGCTTCTCTGAGTTTTCTGGGGATCACCATGTTGAATGTATTCACTGGCCTACGACCCATGTGAGTAGGAGGGAAAAGAAATCATTTGGAAGACAGAATTGAGCCACCGTTAATTTTTTCCCAAATTCTTCTTCCTTAATTTTCAAAAATGCTTAAGACACAATTTGTTTTTCACATTTAAAATTTTTGCTTGGACAAGCTGATAATATTCTCCCATATAAAAATGCTTTTAGCTTAATTAATCTCAAAGGCAATTCAGATGCTGAGGAAAGCTGGTAAACAGTTTGGGAGCAGTTGTTCTTGGCACTGAAGGAAGGAGTGGTATTAGGGTGCCCAGCATTACTGGGGAGGAATTAAATCACATATTTTGGGCCATGTCTAATATGGGTGCATGGACATGGAAAAAGAAATAAAAAAAAGGATTTGAGGAATGTGATAGAGACACAAATGCCAAAAAAGGATGGAAGTAATACCATCAGCAGGTGGCTCTAAAAGCACTCACAGTTGACCATTAAACTGCTTGCAAAGCCGACTTTAATTGATACCTTATTGCGAAGATAACCAAAGTCCAGTGAAAAGGATGTAGCACTGTCACGCCTCTTCACTACGTAGCACAGGTAGGTCTCACGCCGACCCTTAGCCCAGCGGACATTTTTGAATTGGTAAAGAAACTTCCTCCGGTTCATCAAGAGGCTGTGGGTGAGAGGAGGGAGAGAAAATGCAAGAGTACAGTTTATAATCTGGTCACTCTGGATTTTCCTTCAGCTTTTTAAGGAAGTCATTACTTGGGCTAAACCAAAGAAGATGCTCTGACTTCCTCTGCTGGCTGCCTGAGCCCTCCTGAGCCCTGCTGAGCCTGGAATCCATCATAAACTCCTTTTCCTGCTTATATTTAAGGCCAATTGAGAGATACTCATCAAGGACCCCAAACCCTTACCCACAAGACAGTCACCT
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Subsets and Splits
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