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_17800
|
The gene ACVRL1 (activin A receptor like type 1) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
|
CCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATG
|
CCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGATCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATG
|
Task1_train_17801
|
Here is a genetic alteration in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; See cases
|
TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
|
TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTATTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
|
Task1_train_17802
|
This genomic variant is located on Chromosome 12, within the ACVRL1 (activin A receptor like type 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Cardiovascular phenotype
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TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
|
TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTATTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
|
Task1_train_17803
|
Gene ACVRL1 (activin A receptor like type 1), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
|
TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
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TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTATTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
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Task1_train_17804
|
Gene ACVRL1 (activin A receptor like type 1) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
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TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTTTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
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Task1_train_17805
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Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Cardiovascular phenotype
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TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
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TAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTTTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGG
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Task1_train_17806
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A mutation found in ACVRL1 (activin A receptor like type 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; Telangiectasia, hereditary hemorrhagic, type 2
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GGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCA
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GGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCTACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCA
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Task1_train_17807
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A mutation on Chromosome 12 affecting ACVRL1 (activin A receptor like type 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Cardiovascular phenotype
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GGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATAT
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GGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGCGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATAT
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Task1_train_17808
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A mutation on Chromosome 12 affecting ACVRL1 (activin A receptor like type 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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GGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATAT
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GGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAGCTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTGTGGCTGGTTGTGGCAGCCTCTCAGTGGCCTCTCCGTACCCCCAGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGCGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATAT
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Task1_train_17809
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Chromosome 12 houses a mutation in gene ACVRL1 (activin A receptor like type 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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GGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAA
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GGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCAGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAA
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Task1_train_17810
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A variant on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Cardiovascular phenotype
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GGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAA
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GGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCAGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAA
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Task1_train_17811
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A genomic change on Chromosome 12 affects ACVRL1 (activin A receptor like type 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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GGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACT
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GGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTGCATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACT
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Task1_train_17812
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An alteration has been detected in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Cardiovascular phenotype
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GTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTG
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GTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACAGGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTG
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Task1_train_17813
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Chromosome 12 houses a mutation in gene ACVRL1 (activin A receptor like type 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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GTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAA
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GTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGACACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAA
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Task1_train_17814
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Located on Chromosome 12, this mutation impacts ACVRL1 (activin A receptor like type 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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TGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCC
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TGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACAACTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCC
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Task1_train_17815
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A variant has been detected on Chromosome 12 in ACVRL1 (activin A receptor like type 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
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GGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTG
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GGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTTGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTG
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Task1_train_17816
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A variant on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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TTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGG
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TTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTAGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGG
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Task1_train_17817
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A change on Chromosome 12 affects gene ACVRL1 (activin A receptor like type 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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AGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCT
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AGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGATATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCT
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Task1_train_17818
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This is a variant in ACVRL1 (activin A receptor like type 1), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Cardiovascular phenotype
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AGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCT
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AGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGATATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCT
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Task1_train_17819
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With a mutation on Chromosome 12 in gene ACVRL1 (activin A receptor like type 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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GGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGA
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GGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTTTGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTCTTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTTTGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGGATGCAGTGGTGCAATCTCACTGGAGCCTCAATCTCTTGAGCTCAAGTGATCCTCCCACTTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGTGCCACCATGCCCAGCTAACTTTTTTATTTTTTGTAGAGACGAGGTCTCCCTATGTTTCCCAGACTGGTCTCAAATTCCTAGGCTCAAGCAGTGCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGCAAGCCACTAAGCCAGGCCCAGACCCAACCTCTGACTCCAGCTCTGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCTGACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTTGAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCACGAGTTGTCTGAACACCCTTTTCAAACCCAGATTCCTTCCACCATACCATCCTGGCTCCAGGAGTTGGGAGAAAGGAGGCAGGAGCCAGGAACCTGGGTTCTCATCCTGGTTTCGCCAGCCTCCAGGTCTGCTCTGTGAAGTGGGCTCATAATGCCTGCCTTGCCCACTCACATCTCGCTGGGTTCTTGGGAACCTAGAGAGCACTACACAAGCAAAGAGTACCTGGGGCCATGGTTCTCTCTGTGGCCACTGCCTTCCAGCCCATCTCCGTGCACGTCTCCATCTGCCTTCCCCTCTCTGTCCCACTGTTTCTCTCAGTCCCCACCTTGCCTGCCCCCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGTGACAGGCCTCACCCCCACAGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCCGACCATCGTGAATGGTGAGGGCCCACCCTACACAGGGTAGGGAAAGGGGAATCAGCCTGTGGAGCCAGGGGCTTCCAGCCATGGCCAGTGCCCATGGCCTGGGAGGTTTGCAGTCAGACCTCCTGGCACCCCTTCCATGCTGCCCACCAGCTGGTTCAGCTGAGTGACCTTTTAAGGTATAAACCTTAAAAACAGATAACAGGGTCTGTGAGTCTGGCTGTGAAATCTTGGGTACATGATAATAACAGAAATATTAATAGCAGCTAATATTGATTGAGCTTAAATATGTGCCAGATGCCATGCTATGCACTTTACATGTATTATTTAATTCTTTGGTATGGACAAGGCAGTGGTATTGCTTAGTGGCTAAGAGCATAGGCTTGGAATCAGACTTCCTGGGTTCTATTCCTGATCTTGCCATGACCGTGCGTAGGTTATTTGACCTCTCTGTGCCTCAGCTTCCTCATTTGTAAAATGGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCTGGCTGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCTAGGAGGCAGAGGTTGCGGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGA
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Task1_train_17820
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The gene ACVRL1 (activin A receptor like type 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; Telangiectasia, hereditary hemorrhagic, type 2
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GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCT
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GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACGCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCT
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Task1_train_17821
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Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Cardiovascular phenotype
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GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCT
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GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACGCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCT
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Task1_train_17822
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A variant has been detected on Chromosome 12 in ACVRL1 (activin A receptor like type 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Cardiovascular phenotype
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GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCT
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GAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACTCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCT
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Task1_train_17823
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Here is a mutation in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
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TCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAA
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TCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGTTGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAA
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Task1_train_17824
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Given a variant located on Chromosome 12 and affecting ACVRL1 (activin A receptor like type 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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TAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTG
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TAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGCGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTG
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Task1_train_17825
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A mutation found in ACVRL1 (activin A receptor like type 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; Telangiectasia, hereditary hemorrhagic, type 2
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TGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCAC
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TGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCTCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCAC
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Task1_train_17826
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A mutation in ACVRL1 (activin A receptor like type 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; Cardiovascular phenotype
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AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACT
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AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACT
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Task1_train_17827
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This variant affects the gene ACVRL1 (activin A receptor like type 1) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACT
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AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACT
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Task1_train_17828
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This mutation is located in gene ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hereditary hemorrhagic telangiectasia
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AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACT
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AGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACT
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Task1_train_17829
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The variant affects gene ACVRL1 (activin A receptor like type 1), 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; Telangiectasia, hereditary hemorrhagic, type 2
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GCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTC
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GCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTCCTCGGTGGTCATCAACTGAAAACAGAGGCTGTGGTGTCACCGGTCCCTTGGGGAGACTCACGAGGTGCTTAGATTCCTCAAGACTCCGGGCATGAATTGCCAGAGTGGGCTCTAAGGAGACCGGGATCGGGGGAAAGAGGAACCTGGAAGAAGCCAAGGCTCCTTGGACCAGGCTGCAGGGCAGAAAGGAAAGGCTGGGAGGAGGCTGCCTGGGGTGGAGGGGGAAGCTCCATCAGCCCCACACGGACTCGCGGCGCATTATAAACACTGTAATCTGGTGTCAGCCCCGGCACTGATTAAAGGCCCATTAGACACATTCAGGCCTCTGTGCAGCACTGATTAGGGCGTGAGCGGCACAGGGGCCGGCCTGGAAGCTGGCCATGGGGAGAACAGCTGGCGAAGGCTCTATCGAGGTTGCGGCCTGTGTGGCCATGGCCCCCAGCCTCAGGCTGGGAAACAGGATGGGGCACGGGGCTGTCTGCGGCTCCACCGGCATTGTTTTCAGAAAGCTCCTACTAAAAACTGTGAACTTGGGATACCAAGAGGAGGGGGTCAGTGCTGGCTGCAGGAGTCAGCAGAGGCCTGTGCCATCCCTGACACTGGGTGATGTTATGTGGACCTGGGTAAAAAGATAAGTGCAGCTCAGAGGTCAAGAGCACATGCTTTGGTGTTAGACTGTGGGCTTAAATCCTAGCCCTGTCACTTACTATCTGTTGATCTTAGACAAGTTTCTTAAACTCTCTGGCCTTCATTTCTTGGCTTATAAAGTGGAGCTCATAGTATTACCTACCTCATAGGGCTGCTGTGAGGATTTCATGCAGAGCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGGGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTC
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Task1_train_17830
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This genomic variant is located on Chromosome 12, within the ACVRL1 (activin A receptor like type 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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AAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATG
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AAAGCATGTAAAGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGTTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATG
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Task1_train_17831
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This sequence change occurs on Chromosome 12, altering ACVRL1 (activin A receptor like type 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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AGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTT
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AGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCTCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTT
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Task1_train_17832
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Assess the clinical impact of this variant on gene ACVRL1 (activin A receptor like type 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Cardiovascular phenotype
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AGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTT
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AGTGTTTACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCTCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTT
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Task1_train_17833
|
A mutation found in ACVRL1 (activin A receptor like type 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; Pulmonary hypertension, primary, 1
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TACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGC
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TACAGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGACCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGC
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Task1_train_17834
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This mutation occurs in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTG
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AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCAACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTG
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Task1_train_17835
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A genomic change on Chromosome 12 affects ACVRL1 (activin A receptor like type 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Cardiovascular phenotype
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AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTG
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AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCAACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTG
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Task1_train_17836
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An alteration has been detected in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTG
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AGCAGAATATCTGGCACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCCACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTG
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Task1_train_17837
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A change on Chromosome 12 affects gene ACVRL1 (activin A receptor like type 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not specified
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CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGT
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CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGT
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Task1_train_17838
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A variant affecting Chromosome 12, within the gene ACVRL1 (activin A receptor like type 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Cardiovascular phenotype
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CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGT
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CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGT
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Task1_train_17839
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This variant affects gene ACVRL1 (activin A receptor like type 1) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGT
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CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGT
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Task1_train_17840
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A variant has been detected on Chromosome 12 in ACVRL1 (activin A receptor like type 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
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CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGT
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CACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGT
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Task1_train_17841
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A mutation found in ACVRL1 (activin A receptor like type 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; Pulmonary arterial hypertension
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCAGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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Task1_train_17842
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The gene ACVRL1 (activin A receptor like type 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; Epistaxis
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCAGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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Task1_train_17843
|
Here is a genetic alteration in ACVRL1 (activin A receptor like type 1) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Cardiovascular phenotype
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCAGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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Task1_train_17844
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This alteration in ACVRL1 (activin A receptor like type 1) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Telangiectasia, hereditary hemorrhagic, type 2
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCAGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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Task1_train_17845
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Mutation context: Chromosome 12, Gene ACVRL1 (activin A receptor like type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not specified
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCAGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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Task1_train_17846
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A mutation found in ACVRL1 (activin A receptor like type 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; Telangiectasia, hereditary hemorrhagic, type 2
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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ACATGCCATGTGCAAAACAAATGGCAGTCATTAACATTAGTTAGAAACACATTTATTGCATTATACTGTCCCTCTCAGGGGTAGCGTGTCCAGGCCACTGGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCTGCTTCATCTCATAGATACTGAGTGTCCTGGTTAGGGCACCTCTCTAGGTACTCCCTCTTTCAACCCTGGCCCATGCTCCCTGCCCCCAGGGCCATCTGGTCATTCTGGGATTTTAAGAACCTTCACCTTCCCTGTGAAAAGTCAGAGGCTATCTGTGGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGAGTCAGGGTTTTGTTTGCTCTTGTCACCCAGGCTGGGGTGCAGTGGCACAGTCATAGCTCACTGTAACCTCAAACTCCTCGGCTCAACTGATCCTACTGCCTCAGCCTCCCCAGTAGCTAGGTGTAGTGCACACCACCACACCTGGCTAATTTTTAAAATTTTTTGTAGAGACAAGGTCTTTTATGTTGCTCAGGCTTATCTCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCTCCACACCTGACCACTGTGGTATTTTTGTTGCTATTTGTCTTTGTTTGTTGCTGTTTTGTTGTTGTTTGTCCTTGTTTTTTCTCAAAACACTTCACTTGTACAAAGACACACACACGTATATCAACACATACAAGCGTGAATATCCTTCTGAACATACACTCACAGAAATATACACATGCGCATATATGCCAGACTGTTGGCCCCGTGAGGACAAAGAACGTGTCTTTTGCTCACCCTTATGTCCCTATTACCTATCATAGTATCTGGCTCACAATAGGTGCTAATAAATATTTACTGAAAGAATGAATATATTCTATACATGTATACATCTATGTGTACATAGACATACATTTCTGTACAACATATCCGCAAAAAGCCACATGTATGCATTCCTGTACACACACACATACACTCACTTTCAGGAGCCAGAAGTGGGGCCAGCTCATTTCAGGCCCTGGGATGGGTTGATGAGCTTCCTGGGATGGGTTGATGAGCTTTTTGGGATGGGTTGCTCCCTGGACACTTGCATTTTTAGGGCAGTTCCCACTTCCACAGTCCCCTGGGCCCAGCCATGGCTGATGGAGGGGCTGGAAGACACTGCCCTCTGCACTGGGGTCTTAGGCTGTGGATGGGGATGTGGGAGCCCCCAGGCTTGAAGAATCGGCCCCTTCCTATGGATCTTGGCAAAGGTGGGGATGGGGGTAAGGTGTTTCACAGACACTGCTTGCCCAAGGGGGCTTGAGTGCTCCTGAAGATCTGAGTTCTCTCTTTCTGTCCGCCCTGTCTTTCTCCATCCCTTTCTCACTCTACTCTCTTCCTCTTCCATTTTTTATTTTTTTGTCATCCTCTGTTCTCTCTCTCACCACTTGTCTTTCCTCTCGCTCTCCTTTCCAATGCTCTCATCTCCCTCCTCTCATCCTTTCTCTCCTGCTTATGTCTCCCCATTACCGGCCATCCTCCTCATCTTCTTCCCATCTTCTCTGACCCACCTCCCTCTGCATCTCTCTCCCGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCAACCCCCAGGTCCTCTCAGGCCTAGCTCAGATGATGCGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCTGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTAAAGTGATTCAATAGCCCAGGAGCACCTGATTCCTTTCTGCCTGCAGGGGGCTGGGGGGGTGGGGGGCAGTGGATGGTGCCCTATCTGGGTAGAGGTAGTGTGAGTGTGGTGTGTGCTGGGGATGGGCAGCTGCGCCTGCCTGCTCGGCCCCCAGCCCACCCAGCCAAAAATACAGCTGGGCTGAAACCTGATCCCCTGCTGTCTGGCCTGCTCAAAGCGGCAGGCTCCCTGACGCCTGGCTCTCTCCCCACCCCTATGGCCAGCATGGTGCACCCCCTACCACTCCCGGGACAGGATGCAAAAGAGGCTCCAGAGTCAGAGTGCCAAGCCAGGGAATCCCAGTCCCAGACTCAGAGCCCGGGCCTGCACTTTGCCCCCTGCCCTTGATCAACCCCACTGCCCCACCAGAGCTGCCAGGGTGGCACAGGGCCCTGTCCAGCCCCTGGCACACACTTCCCTGCCAGGCCTCAGCCTCTAGCATAAGCTCCAGAGAGCCAGGGCCCATCAGTTTCTCTCTGTGGATTTGTATCTCAGCTCCATGATGCCTTGGGCTTTCTGTCTCCTCAACAAGAGTGCAGCTTGCTGAATGTCAGCTGCCTGAGAGAGCTGGGGCCTGACTTACTAGGGCATTAAATCCTAAGAGGTCCTACTGAGGTGTGGCAGGATCACAGGCCAGTGGAAAAAGGGCAGGTCAGATGGGCAAGGCCCAGGACTTTCAGATTAACTGAGAGGATATCGAGGCCAAGCATGGCAGGGGGAAGGTCAGTGGGTGTCAAGAGACCCAGGTCTGACCCCGGATGTTTGCTCCATGTGACAAAAGCAGGCCTGTCTCAGGACCTTTTCTTTTCTTTTTTCCTTCTTTTTTTTTTTGACACGGAGTTTCGCTCTTGTTGTCCAGGCTAGAGTGCAATGGCATGATCCCAGCTCACCGCAACGTCTACCTCCCAGGTTCAAATCATTCTCTTGCCTCAGACTCCCGAGTAGCTGGGATTACAGGCACATGCCACCATGCCTGGCTAATTTTGTATATTTAGTAGAAACAGGGTTTCACCATGCTGGCCATGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCACCTACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCATCGCGCCTGGCCAGGACCTTTGTTTCTTATCTACATATTGGAAGATTTGGTCCTGATGTCCTTTGAGGCTTCTTTAGCTCTAGTTCTCTGACACTTCAGCCTATATCACAGCTAACTTCTTCAGTCTCATCTATTCCTTATGCTCCAGCCCCTGGCAATTTGCCTCAAGATGGGGGTTTGAAAATAACTTTACCTGACTCAAGGAGTGTCTGGAGCACCTCCTAGTCTAAGTCTGCAAGCTCCAGTTCTTGCCTAAAACCATGCCAGTGGCCACCCTTGGGCTCAGACAGCTCTGGGCCTTTTGACCACAAGCCAGCCCCTCGCCCTCTCTGTGGCATAGTCTTCTCTGCCCCAGGACTGCAGGGCGGCTTCCTCCAAGGCTTCCAAGGCTCAAAAGAAATTTGGCTCCATCCAAGAAGGCTCCAGCTCCCCTACTGGCCCCTGGCTCAGGCCCACACCCCTGGCCAGGCCCAGAGAGTGTGTCTCAGGAGAATTCAATGGCTCTAGAGAGACACACAGAAAGTTTGGCATTTGGAAATTTCAAGGATGTATGTATGCTCACGTATGGAGCAGGTTGTCCTGGTCCCTGGGTGCAGGGAAGTGGGCTGCAGGGAAGTGGATTGGAGGGGAGCTTGAGGAATATAAGGAGCGGGGGTGGAGACTCAGGCTATGGACAAGGACAGCCCCAAGGTTGGGAAGACCTGGCCTTAGTCGTCCTCAGCCTAGGGGCAGGGCAGTGAAGAAAGCTCTCCCCGCTCCTGCTGTAATGACCCAGAGTAGCCTCCCCAGGCCGGCATCTTATGTGTGTCTTCCACCATCCTCATGGTGGCACTTTTCTAGGCCTGTCTCCCAGCATTGTG
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Task1_train_17847
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Assess the clinical impact of this variant on gene ACVR1B (activin A receptor type 1B), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Transposition of the great arteries, dextro-looped
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CCTCCCTATGTTTGAGGACCTCATTGACTAGCAAAGGATGACGAGTAAGGGTGATTAGAGGAGGTAAACACGAGTTGTTCTGTTGAGCACAAATTGGGGCTGACTCGCACCTGAGCCCAGTTGAGACAAAGGTGGCAAGAACTGGTCAGGAAGAAAAATCTTCCTTGCAGGGAAGAGCACTGCAGACATGTGCAAAGGTGAGGTTTGGGGCCCAGCAAGTAACTTGGATGGCTGTGGGTGGAGAGGGAGGCAGAGGCCAGATTATGAGGGGCCTTTTTGAGAGGATTGTATTCCATTCTGAAGATAGTGGGTAGTAATTAAAATTTCATTCATTAATTCTATAACATTTATTGACTGCTGTGGGCCAGACCTCTGCTGGCTGCTTGGACCATCACACATAAGAGCAAGACACAGTCCCTCCCCTCACAGAGCTCCCAGGAAGAAGGGGACAGACACGTGGACAGGTAGTGGCACCCGGAGCACAGAGAGGATGCTGTGAGTGGCTGGTTCACATTGTGGAAGGGTCTCTCTAGCAGTTGTGACATGACTTGCTCCTGTGGCATGGTGCAATTTAGAAGTTAGTGTCTACAAAGCCTACAGAAGATGCTATTTGTTTTTCATTCCTGAAACAACAGCAGACTGCTCATTCCTCACATTGCCATGGGAAGTTGTAATGGTCTCTGCTGCCCCCAAGCTGAGGAGCCTTAGACTCCAATACAAGGGAGGAAGGGGAAGAGCAAGATTTTTATTCCCACTGAGTAAGCTATTCCTTTTTAAAACTATCACCTTTTGATAAAATTTAAATCTTATATGTTTTAAAAGGATCAAATCATGTCTTCTCTTTGAACTTGTTAGCAGGGTCCTCAGGACTTTGGGGCTGGTTAGAGTGCGAGAAGCAGTGTGTTGGGTGGGCCCCTTGTTTGTGATAAGAGAAGCCAAGATGTGTGTGTTTCCAGGATCCATCCCTTTATTGATTCTGGCAGCTTGTGTGAGTAGGGATCTGGCTTTCAAAACCCACCTTAAGGCCAGGGAAGGGAAACAATCAGACTCCCTCGTTCTTGCCTTTTTAACATGGGGTATATATAGTATGGTGCCCTGGAATCAGCGCCAGCCTGGAATTTTGGAGATTTCAACTCAATTTCCAGTCTTCCAATTGACAACGGCATGGCTTAATTCGATTCCTGGCTTTGGTGTTTCTTTTTCTCCCTCCTCCTGCTCTCCTCCTTCCTGCTGTCCCTAGTGTAAAAGAGAAAATAAAGTGTATGCACTCTACCTTCCATTGCTCCTCTGAAGGATGAGATGCCTTTCTGGGAATACTTGGAAGTGGTCTATTCATGCACTGAAAAGCATTTTTTGGCCTGGAATCCAATAATCCATAAAGGAGATCTTTCCTACTCACAGAGATATCATAGCCTGGTAAGAACAACAGACTGAAAAGAAACATTACAGATGAGACAGGTGCTGTGTTTGGGCTGTGTTCAGAGGGTCGCTGGGACACAGGAGGCCCTCCAAGGCTTTCCTGTTTGGTGGTGGTAGATCCAGCTCATTGTGGTTCTCCCGTGCAGATGAGCAAGTCTTGGTCAGGATCAAAGCAGTGCTGCACACAAAGCTGGTGATAGCTGTTACCTTCCCCAGGCATATGCCTCCTCTTTCCTGAGTACCTCACATTTCAAATTTGACATAATGTTCAGAATCCTACAGTTCACCTAAAGGAAATCAGGAGCAGTCCTAAGAAAGAAATGGTGTTCCCCTGTCCTTACTGAGGTCCCAAACTGGTAGACCACTATAAATGAAAGGATGCTAGATGGGGCTTCAGGGGGCATGGAGGTGGGAAATGTGAATTCAGGAGTCTAACCTGATTTTGTGTTGTATACACTCATCCTTACCAACCTTCACTGTTTTGCTGATAGTTACACTTTTTCTGGGACTCATCTGTGGTTCTCTGCAGATAATGGCACCTGGACACAGCTGTGGCTTGTTTCTGACTATCATGAGCACGGGTCCCTGTTTGATTATCTGAACCGGTACACAGTGACAATTGAGGGGATGATTAAGCTGGCCTTGTCTGCTGCTAGTGGGCTGGCACACCTGCACATGGAGATCGTGGGCACCCAAGGTGAGTGGACTAGCGCAGGAGCGGCGAAGTGGTGTAGGCATGAAAGGTCCGCAGTGTCCTGATTTAGTTCCTAGAATTCCTTTTTACTGAGGAAGTTGGGGCTGGACCTCAGGAACTCTAGTTTAATTTAAAGGAAAGGAGGTTTGAGCTTCACTTAAGTGAGGTATCTACAGGGTGTTCCCTTCACCTCTGTCTTGATAGAACTCCCTCAGGAACCCTATAATATCAATATTCAGCTACTTGTCAATCAGTGGCTTGACATAGTCATTTGTTACGAAGGAGTAATCATCTTAGAATCCCACAATAGACATGAGAAAAAATGGAACTAAAAAGATAAACCAGTGTACTGGGAACATCAGTTTAGTGATTTCCATGTTCATTGATGGGGACAGCTGGCTTAAAGGCCACTTGGTGGATTAGATTCTGGGCCTTACTAATCTGGGAAGGTTTTCCTGGAGGAAGAAGACCTGAAGCTCTGCTACTTGTTGATTATCATGTCGGCTCTTTGGGAGATCCTGGATCTTGTCACAATGGCAGGTGTGATCCCTGATGCCTGGTTGACCAGGGCCACAATGGAAAATCACCCGTGAAAGTTGGATCCTATTCCTATAGCCTGTGCGGTGCCAGTTCTCATCATCGGGCCTGTTTCCTTCTGAGAACTAGGCATTGCAGCAACTTCCCTTCAGTCCCTCAGCACTTCTGTACCTGAGCATATTTGCTCAGGGAAGGCGAGTAGTAGTAGTAAATATTAATACAAATATTAGCTAAATACACATGTCCTTCTATGGTCGTAACTTAGCTACATGAATGCATTTAATCCTCACAACAGTCCCATGAAATAAGTAGTCATTCTGATTTTATGGATGAGAAGACTGAGGTACAGAGGGCTAAAGTCACTTTTCCAGGGTCACTGGATTAGCAGGAGGCAAAGCCAGGACTCAAACCTATACAGTCTGGCTGCATAGTCTATGCTTTTAACATTTATATCATCTCTTTGTAAAGATCCCTGTTTTTTTCTCTGCCAGGGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACATTCTGGTGAAGAAAAATGGCATGTGTGCCATAGCAGACCTGGGCCTGGCTGTCCGTCATGATGCAGTCACTGACACCATTGACATTGCCCCGAATCAGAGGGTGGGGACCAAACGGTAGGAGGGCCTGGGACTCTGCCCTTGCTAAGCAGCTTCTACTGAGTATCCCATCTGTGCCGTTTCCCATATGCGCAGGAGAAGGAGGTGTTGAAAAAGGAGGCGAGGACCTTGCTCTCAGCCCACTGAAAGTTGAATTGAACATGCACTCCCCACAATGGAAAGTTGCATCACTGCATCTAACAGATACAAGTGCTGAGAGCACAGCTCCATAAACTGTATGCACATTGGTGTTGGTGGTATTAAGGTCGGAGGGTAGAGAAGGACAATCTAGAGCAGGATTTAGAAGGATAGCAGGCAACAGGTGTGGCTCGGGAAAGAGGGAAAACACTGTCATCTCCTGTGCAGAGAGCTGTGAAGGAGGCAGGGAGCATGTGCTTAGGGACTGGAGACCAGATTTGCCAAACTATAGCAAAGGTAACCCAGGATAGAGATTTGGGGCACCCTTCAAGATTATGGGCCTGCTTCCCACTTCATGCAGAAGTGAGGTAAGAAGTAAGGAGCTGTGATTGCAAATTGACTTCATGAGTTGGAAATGGGACTGCCTTTTAATAGAGTGGAAGAGGTGGAAATCTGCTGAATCTAAATGAATTTAATTAAGATTATCCCCTGATTTATTGTGGGGGCTGGGGTGGCTGGAATCATAGTAATTACTCATAATTACTACTCAGAGTCATTAAGGGTGCCGCTGACCACCTCTAGAATTAATTTTGACATATCTATAGTCAGGTAAGATAACAAAAGCAGTTCGGAATGAAACTTAAGCTCAACCCATCACTGTGACTACATTCAATAAAG
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CCTCCCTATGTTTGAGGACCTCATTGACTAGCAAAGGATGACGAGTAAGGGTGATTAGAGGAGGTAAACACGAGTTGTTCTGTTGAGCACAAATTGGGGCTGACTCGCACCTGAGCCCAGTTGAGACAAAGGTGGCAAGAACTGGTCAGGAAGAAAAATCTTCCTTGCAGGGAAGAGCACTGCAGACATGTGCAAAGGTGAGGTTTGGGGCCCAGCAAGTAACTTGGATGGCTGTGGGTGGAGAGGGAGGCAGAGGCCAGATTATGAGGGGCCTTTTTGAGAGGATTGTATTCCATTCTGAAGATAGTGGGTAGTAATTAAAATTTCATTCATTAATTCTATAACATTTATTGACTGCTGTGGGCCAGACCTCTGCTGGCTGCTTGGACCATCACACATAAGAGCAAGACACAGTCCCTCCCCTCACAGAGCTCCCAGGAAGAAGGGGACAGACACGTGGACAGGTAGTGGCACCCGGAGCACAGAGAGGATGCTGTGAGTGGCTGGTTCACATTGTGGAAGGGTCTCTCTAGCAGTTGTGACATGACTTGCTCCTGTGGCATGGTGCAATTTAGAAGTTAGTGTCTACAAAGCCTACAGAAGATGCTATTTGTTTTTCATTCCTGAAACAACAGCAGACTGCTCATTCCTCACATTGCCATGGGAAGTTGTAATGGTCTCTGCTGCCCCCAAGCTGAGGAGCCTTAGACTCCAATACAAGGGAGGAAGGGGAAGAGCAAGATTTTTATTCCCACTGAGTAAGCTATTCCTTTTTAAAACTATCACCTTTTGATAAAATTTAAATCTTATATGTTTTAAAAGGATCAAATCATGTCTTCTCTTTGAACTTGTTAGCAGGGTCCTCAGGACTTTGGGGCTGGTTAGAGTGCGAGAAGCAGTGTGTTGGGTGGGCCCCTTGTTTGTGATAAGAGAAGCCAAGATGTGTGTGTTTCCAGGATCCATCCCTTTATTGATTCTGGCAGCTTGTGTGAGTAGGGATCTGGCTTTCAAAACCCACCTTAAGGCCAGGGAAGGGAAACAATCAGACTCCCTCGTTCTTGCCTTTTTAACATGGGGTATATATAGTATGGTGCCCTGGAATCAGCGCCAGCCTGGAATTTTGGAGATTTCAACTCAATTTCCAGTCTTCCAATTGACAACGGCATGGCTTAATTCGATTCCTGGCTTTGGTGTTTCTTTTTCTCCCTCCTCCTGCTCTCCTCCTTCCTGCTGTCCCTAGTGTAAAAGAGAAAATAAAGTGTATGCACTCTACCTTCCATTGCTCCTCTGAAGGATGAGATGCCTTTCTGGGAATACTTGGAAGTGGTCTATTCATGCACTGAAAAGCATTTTTTGGCCTGGAATCCAATAATCCATAAAGGAGATCTTTCCTACTCACAGAGATATCATAGCCTGGTAAGAACAACAGACTGAAAAGAAACATTACAGATGAGACAGGTGCTGTGTTTGGGCTGTGTTCAGAGGGTCGCTGGGACACAGGAGGCCCTCCAAGGCTTTCCTGTTTGGTGGTGGTAGATCCAGCTCATTGTGGTTCTCCCGTGCAGATGAGCAAGTCTTGGTCAGGATCAAAGCAGTGCTGCACACAAAGCTGGTGATAGCTGTTACCTTCCCCAGGCATATGCCTCCTCTTTCCTGAGTACCTCACATTTCAAATTTGACATAATGTTCAGAATCCTACAGTTCACCTAAAGGAAATCAGGAGCAGTCCTAAGAAAGAAATGGTGTTCCCCTGTCCTTACTGAGGTCCCAAACTGGTAGACCACTATAAATGAAAGGATGCTAGATGGGGCTTCAGGGGGCATGGAGGTGGGAAATGTGAATTCAGGAGTCTAACCTGATTTTGTGTTGTATACACTCATCCTTACCAACCTTCACTGTTTTGCTGATAGTTACACTTTTTCTGGGACTCATCTGTGGTTCTCTGCAGATAATGGCACCTGGACACAGCTGTGGCTTGTTTCTGACTATCATGAGCACGGGTCCCTGTTTGATTATCTGAACCGGTACACAGTGACAATTGAGGGGATAATTAAGCTGGCCTTGTCTGCTGCTAGTGGGCTGGCACACCTGCACATGGAGATCGTGGGCACCCAAGGTGAGTGGACTAGCGCAGGAGCGGCGAAGTGGTGTAGGCATGAAAGGTCCGCAGTGTCCTGATTTAGTTCCTAGAATTCCTTTTTACTGAGGAAGTTGGGGCTGGACCTCAGGAACTCTAGTTTAATTTAAAGGAAAGGAGGTTTGAGCTTCACTTAAGTGAGGTATCTACAGGGTGTTCCCTTCACCTCTGTCTTGATAGAACTCCCTCAGGAACCCTATAATATCAATATTCAGCTACTTGTCAATCAGTGGCTTGACATAGTCATTTGTTACGAAGGAGTAATCATCTTAGAATCCCACAATAGACATGAGAAAAAATGGAACTAAAAAGATAAACCAGTGTACTGGGAACATCAGTTTAGTGATTTCCATGTTCATTGATGGGGACAGCTGGCTTAAAGGCCACTTGGTGGATTAGATTCTGGGCCTTACTAATCTGGGAAGGTTTTCCTGGAGGAAGAAGACCTGAAGCTCTGCTACTTGTTGATTATCATGTCGGCTCTTTGGGAGATCCTGGATCTTGTCACAATGGCAGGTGTGATCCCTGATGCCTGGTTGACCAGGGCCACAATGGAAAATCACCCGTGAAAGTTGGATCCTATTCCTATAGCCTGTGCGGTGCCAGTTCTCATCATCGGGCCTGTTTCCTTCTGAGAACTAGGCATTGCAGCAACTTCCCTTCAGTCCCTCAGCACTTCTGTACCTGAGCATATTTGCTCAGGGAAGGCGAGTAGTAGTAGTAAATATTAATACAAATATTAGCTAAATACACATGTCCTTCTATGGTCGTAACTTAGCTACATGAATGCATTTAATCCTCACAACAGTCCCATGAAATAAGTAGTCATTCTGATTTTATGGATGAGAAGACTGAGGTACAGAGGGCTAAAGTCACTTTTCCAGGGTCACTGGATTAGCAGGAGGCAAAGCCAGGACTCAAACCTATACAGTCTGGCTGCATAGTCTATGCTTTTAACATTTATATCATCTCTTTGTAAAGATCCCTGTTTTTTTCTCTGCCAGGGAAGCCTGGAATTGCTCATCGAGACTTAAAGTCAAAGAACATTCTGGTGAAGAAAAATGGCATGTGTGCCATAGCAGACCTGGGCCTGGCTGTCCGTCATGATGCAGTCACTGACACCATTGACATTGCCCCGAATCAGAGGGTGGGGACCAAACGGTAGGAGGGCCTGGGACTCTGCCCTTGCTAAGCAGCTTCTACTGAGTATCCCATCTGTGCCGTTTCCCATATGCGCAGGAGAAGGAGGTGTTGAAAAAGGAGGCGAGGACCTTGCTCTCAGCCCACTGAAAGTTGAATTGAACATGCACTCCCCACAATGGAAAGTTGCATCACTGCATCTAACAGATACAAGTGCTGAGAGCACAGCTCCATAAACTGTATGCACATTGGTGTTGGTGGTATTAAGGTCGGAGGGTAGAGAAGGACAATCTAGAGCAGGATTTAGAAGGATAGCAGGCAACAGGTGTGGCTCGGGAAAGAGGGAAAACACTGTCATCTCCTGTGCAGAGAGCTGTGAAGGAGGCAGGGAGCATGTGCTTAGGGACTGGAGACCAGATTTGCCAAACTATAGCAAAGGTAACCCAGGATAGAGATTTGGGGCACCCTTCAAGATTATGGGCCTGCTTCCCACTTCATGCAGAAGTGAGGTAAGAAGTAAGGAGCTGTGATTGCAAATTGACTTCATGAGTTGGAAATGGGACTGCCTTTTAATAGAGTGGAAGAGGTGGAAATCTGCTGAATCTAAATGAATTTAATTAAGATTATCCCCTGATTTATTGTGGGGGCTGGGGTGGCTGGAATCATAGTAATTACTCATAATTACTACTCAGAGTCATTAAGGGTGCCGCTGACCACCTCTAGAATTAATTTTGACATATCTATAGTCAGGTAAGATAACAAAAGCAGTTCGGAATGAAACTTAAGCTCAACCCATCACTGTGACTACATTCAATAAAG
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Task1_train_17848
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This variant lies on Chromosome 12 and affects the gene KRT81, KRT86 (keratin 81| keratin 86). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; MONILETHRIX 2
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GTGGCATGCACCATCTAAACCTTTTACGTATATGAAATCCTTTAACTCATCAACTTATGAGGTGGTTGCCCTTTCTATCATCCTCATTTTGGAGGTGTGGAAACAGGCACAGAGAGGGTAAATACATTGCCCAACCCACTCACCTAGGAAGGACCAGGGCCCAGCTTGGGGCCCAGGCAGTCTGGCTGGAGTCCGTGTCCCCCCTCTATGCCACATCATCTTGCTATGTGCTGTTTTCTGTCTTTGAGGAAAATGTATCAGCTGTGGCAGGTCTCCAAAACCCCAGAGTGATGCCATTTAAAAAAAAAAAAAAGAAAGCCAACATCAAAGGCTTTTTGAAACTTTAAATCATATTCATGTATTCACCTCTTAAAGAATTCCAATAAATTACTCAGGCATGAGTCTTCCCTACCAAAGCAATGGGTGATGTTGCCTCAAGCTTTGAGTGATTGGTGAATCTGATTTTCATGATCCATCAGTTTGCAGATATGCATGAGATGTTTTCTGAGAGACAGCTGCAGTTTAGTGAAATGAGCACTAGCGACACACACAGGGCTTAAACCCCAGATGAACCACCCAACTAAGTGGGTGACCCTGCCCCAATTATTGAGTGCCTCTGAGTTCTGGCTTCTTCATCTGCAAGGTGTATCATTAGGGTTGTGTGGATAAAGTTACATCAAATAGGGGCCTAGCACAACTCTTGGCTAAATCTGAACCTTCTATGAGGCGGGGGATAGAAAACTGTACTGGAGACCCTTGGCTTGGCCTTTTGCTGCTCCATGTGACTTTGGGGACCCTCCCTAACCCCGACCCCTGAGGAGGGTAATAGAGACACACACAAGACCCAGGTTGGCTACATTAATTTATTGAAACACAGATCAAGAGCAGAGGAGGAAGGGGAGAGGCAGGAAGGCAGTTGCCGTGGGCAAGGTTCTGGTCCTGGCCCTTCCTGCTCCTGAGGCCCCTTCCTATGGGTGCCAGCGGACTTCTTTCTAGGGTGGCCTTTCCCACTGTGGGGTGGCAGAGCCCAGAAGTGGGGGATCACACAGAGAAATGTGAGGCCAGGAGTGGGAGGGGTCTTTCAAAGTGCAGGAGAAGTAGCTGAGCACTTGCTCCAGGCGCCTGGACTGGATGGGCCAAGCAAGGCAGGGCAGGAAAGATGCCTGGGGCCTGGGACTTGAGTTGGGGTGCCTAACATTTCCGGCAGCTGCTGCCGCAAGACCCCACACCCAGGGAGCTGATACCACAGGAGCCCACGCCGCAGGAACCCCCTCCGCAGGTGGTGTTCAATTGGCCGCAGGGCGCACACAGGCCGGTGCTCACCGCCACGTTCCCGTTGCACGGAGCGCTGCAGACACTGCCAGTCACTGGCCGGGAGCCTGACACGCAGAGGTCCCCGCACACGACCCCGCCCCGGGAGCTGCTGACACCTGTGAACCCCGAAGGCTGAGTCAAAATTCTGAAGGGCAAGCCATCCTGCCTTCCTGACAACCGCCCCTGCCCAAGACCTGAGCTCTGGTATGAAAAGTCAGAAGCATCTTTGTGGACAATTCTAGGTCCATCTAGTCCAAGAGCTGGGGTCTTTTGGATGTCTGACCCCAAATCCCTCCTGTTGTGATGCCAGCCCACTCTTTTATATTCAATCTCAGTAACACTCCTTTTTCCAAACTCTGCCCTCCATCACAGGTAGTTAGTAAATCTGTCCACACTGGACCCCAAATACTCACAGACATTCACAGCCCCAATGCCTTCACATAGCCTGAGGGCAAAAGAGAAAAAGGCAACATTAGTGACTGCCCCAGAGTGGCTGAAAAAGCTCCCCAGTTCATAGGGTAGGGTCCACAACTGGTCAATTAAGAACAGAGTCTGAGGGAACAGCTTGCCTCAGACAAACTCACACACCAGCCCTCCCCACACCGGAAGTGAATAATAATATTTTTTTCCCCCAGAGCCCTGGCCATTGCTCAGCCAAGGCCAAGGGTAGGCTTGTGCCAGGGATGGGGAAGGGTGGTTCTGGGCCACCCTTGGTTGGACCCACCTCTGCTCCTCGCCCTCCAGCAGGCGCCTGTAGGTGGCGATCTCGATGTCCAGGCCCAGCTTGGAGTTCATCACCTCCTGGTACTCCCTGATCAGGCAGGCCATGTCCTGCTTGGCCTTCTGCAGGGCGCCCTCCAGCTCGGCCAGCTTGCAGCGGGCATCACTGAGGGCCGCCTCACCCTGCTGCTCAGACTGGGCCACCGCGGCCTCCAGCTTGGAGTTCTGAAGAGAACAGAAAGAACAAGGTAGATTAGAGTCCCTGGGTCTCTCTGATGCTCATCCAAATGAGACCACACTCCCCACCAAGCTGGGAGCACCCCAGAACAGAGCCTCTTGCCTTTATCACCTGGGACTCATTGAGAGACCACGACCAGGGACTCTACATGGACAAAGGGGGTGGAGAATGAATGCTGAGATCCAGGTAGGGCACACATAGGCTGTGTGACAATGGTTAGGCCCTCGGTCTCTCTGACCTTGCGCACAGATGCCCCATACCTGGCACTTGGCATTCTCCACCTCGGCCGTCAGCCTTTGGATCATGCGGTTCAGCTCATTGATCTCCTCCTTGGTGCGGCGCAGGGTCTCCCCGTGCCTGATCACCGTGGCCTTCATCTCCTCACACTGGGGGAAGTAGAGATGCTCATGAGGTTCAGGGTGGGACCTCCCATCCATTCAGGACACCACAGATGATTTTGCAGGTTGTACAGTGCTCAGCCTGTGCAGCCACACATGGCAGTCCTGCCCTGCCACCCCAACCTCAGATTGGCAGCCCTCTCTTCTCATCCCTAGGGACCAGCATCCCCAGAAAAGGAAGCCTATTTAATAGATATCTCACATCCCTCCCACTGACACGTCTAGCAGGCAGGTGTCCTGTGCCACTCACCTTGCTGCGGTACCAGGACTCGGCCTCGGCCCGGCTGCGGGTGACAATGTCGTCATACTGTGCCTTAATCTCGGCAATGATGCAGTCCATGTTCAGGTCCCGGCTGTTGTCCAGCTTGACAACCACGGAGGTGTCTGAGATGTGCGACTGGAGAATGAGGATCTCCTGCAGGAGGTGAGGGCAGTGACTTTAGTTGAGAATACAGCCCCACCCACCATGTCCTGACTCCACCTCCTCAGGCTTTCTCTGGTCCCCAACCCTGCCCCCTCACACAGCCTCAGGGACTGCAACCTCTACCCACATCCTGTCCAACACTCCCACCCCCAACTCTCCTCTCTGCTGGCTGCCAGGTTTCTGTCTGGCCCCTGAGCCCGCACCTCCTCATACAGCCGCCTCAGGAAGTCGATCTCCTGGATCAGGGCCTCCACGTTGGCCTCCAGGTCTGACTTGCGGAGGTAGGCGCAGTCCACATCCTGGAAAGGTGGGGAGTGTTGGAGCTCAAGGACCCTGGTGATCCAGCCCCCAGACTCCTCTCTCTGCCCATCCATTCCATGTAGCCAGGGGAAAGCAGTCCCTGGTGTCCCATTCCCATGCCTTTCCTCCCCTTCTGCCCTTCCTGGGATGAGCTGGCATCCTCTGTCCCTCTGATGACAAACCCTGTTTGCCTTGACCATGCCTCACCAGCCTTTCACCCCTCCTTGCCCTCCTGTCTCTCCCTTCTCTCATCTCCTGCTCCAGGAAGCCTGCCCAGACTGACCCCCCAGCTCTCACACCCTGACCCTTTCCTGTCCCCCACAAGTGCTCCAAGAGCCCAGTGGCTGCTCCTGGTTCTTCTCCATCCCCCCTTAGACCCTGGGATTGTGTCTCTGCCTCAAGGTCAGACTCCCCAAAATGCTAGACAGACTGCACTGTCTCTCAGCAGAGACATTGTATCTGCTATGGCTCCAGGGGCCTCAGCAATAGACCACAACCTCTGGAACAGAGCAGGACACACAGAGGACAGTGCAGCCATCCCCTTGCCCAAGGTAGGTGCTGGTAGATATTCCCAAGTCATTGCCCTTTGTCAAGGCCCTGGATGCTCAATACAAAGGCCTGCATCTGGGCAGTCCTAGCCTGCTGTGGAAAGGTCATTGTGCCCCACGCTGAGGTTGAGACCCCCTGTGTGTCCCCAGGAAG
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GTGGCATGCACCATCTAAACCTTTTACGTATATGAAATCCTTTAACTCATCAACTTATGAGGTGGTTGCCCTTTCTATCATCCTCATTTTGGAGGTGTGGAAACAGGCACAGAGAGGGTAAATACATTGCCCAACCCACTCACCTAGGAAGGACCAGGGCCCAGCTTGGGGCCCAGGCAGTCTGGCTGGAGTCCGTGTCCCCCCTCTATGCCACATCATCTTGCTATGTGCTGTTTTCTGTCTTTGAGGAAAATGTATCAGCTGTGGCAGGTCTCCAAAACCCCAGAGTGATGCCATTTAAAAAAAAAAAAAAGAAAGCCAACATCAAAGGCTTTTTGAAACTTTAAATCATATTCATGTATTCACCTCTTAAAGAATTCCAATAAATTACTCAGGCATGAGTCTTCCCTACCAAAGCAATGGGTGATGTTGCCTCAAGCTTTGAGTGATTGGTGAATCTGATTTTCATGATCCATCAGTTTGCAGATATGCATGAGATGTTTTCTGAGAGACAGCTGCAGTTTAGTGAAATGAGCACTAGCGACACACACAGGGCTTAAACCCCAGATGAACCACCCAACTAAGTGGGTGACCCTGCCCCAATTATTGAGTGCCTCTGAGTTCTGGCTTCTTCATCTGCAAGGTGTATCATTAGGGTTGTGTGGATAAAGTTACATCAAATAGGGGCCTAGCACAACTCTTGGCTAAATCTGAACCTTCTATGAGGCGGGGGATAGAAAACTGTACTGGAGACCCTTGGCTTGGCCTTTTGCTGCTCCATGTGACTTTGGGGACCCTCCCTAACCCCGACCCCTGAGGAGGGTAATAGAGACACACACAAGACCCAGGTTGGCTACATTAATTTATTGAAACACAGATCAAGAGCAGAGGAGGAAGGGGAGAGGCAGGAAGGCAGTTGCCGTGGGCAAGGTTCTGGTCCTGGCCCTTCCTGCTCCTGAGGCCCCTTCCTATGGGTGCCAGCGGACTTCTTTCTAGGGTGGCCTTTCCCACTGTGGGGTGGCAGAGCCCAGAAGTGGGGGATCACACAGAGAAATGTGAGGCCAGGAGTGGGAGGGGTCTTTCAAAGTGCAGGAGAAGTAGCTGAGCACTTGCTCCAGGCGCCTGGACTGGATGGGCCAAGCAAGGCAGGGCAGGAAAGATGCCTGGGGCCTGGGACTTGAGTTGGGGTGCCTAACATTTCCGGCAGCTGCTGCCGCAAGACCCCACACCCAGGGAGCTGATACCACAGGAGCCCACGCCGCAGGAACCCCCTCCGCAGGTGGTGTTCAATTGGCCGCAGGGCGCACACAGGCCGGTGCTCACCGCCACGTTCCCGTTGCACGGAGCGCTGCAGACACTGCCAGTCACTGGCCGGGAGCCTGACACGCAGAGGTCCCCGCACACGACCCCGCCCCGGGAGCTGCTGACACCTGTGAACCCCGAAGGCTGAGTCAAAATTCTGAAGGGCAAGCCATCCTGCCTTCCTGACAACCGCCCCTGCCCAAGACCTGAGCTCTGGTATGAAAAGTCAGAAGCATCTTTGTGGACAATTCTAGGTCCATCTAGTCCAAGAGCTGGGGTCTTTTGGATGTCTGACCCCAAATCCCTCCTGTTGTGATGCCAGCCCACTCTTTTATATTCAATCTCAGTAACACTCCTTTTTCCAAACTCTGCCCTCCATCACAGGTAGTTAGTAAATCTGTCCACACTGGACCCCAAATACTCACAGACATTCACAGCCCCAATGCCTTCACATAGCCTGAGGGCAAAAGAGAAAAAGGCAACATTAGTGACTGCCCCAGAGTGGCTGAAAAAGCTCCCCAGTTCATAGGGTAGGGTCCACAACTGGTCAATTAAGAACAGAGTCTGAGGGAACAGCTTGCCTCAGACAAACTCACACACCAGCCCTCCCCACACCGGAAGTGAATAATAATATTTTTTTCCCCCAGAGCCCTGGCCATTGCTCAGCCAAGGCCAAGGGTAGGCTTGTGCCAGGGATGGGGAAGGGTGGTTCTGGGCCACCCTTGGTTGGACCCACCTCTGCTCCTTGCCCTCCAGCAGGCGCCTGTAGGTGGCGATCTCGATGTCCAGGCCCAGCTTGGAGTTCATCACCTCCTGGTACTCCCTGATCAGGCAGGCCATGTCCTGCTTGGCCTTCTGCAGGGCGCCCTCCAGCTCGGCCAGCTTGCAGCGGGCATCACTGAGGGCCGCCTCACCCTGCTGCTCAGACTGGGCCACCGCGGCCTCCAGCTTGGAGTTCTGAAGAGAACAGAAAGAACAAGGTAGATTAGAGTCCCTGGGTCTCTCTGATGCTCATCCAAATGAGACCACACTCCCCACCAAGCTGGGAGCACCCCAGAACAGAGCCTCTTGCCTTTATCACCTGGGACTCATTGAGAGACCACGACCAGGGACTCTACATGGACAAAGGGGGTGGAGAATGAATGCTGAGATCCAGGTAGGGCACACATAGGCTGTGTGACAATGGTTAGGCCCTCGGTCTCTCTGACCTTGCGCACAGATGCCCCATACCTGGCACTTGGCATTCTCCACCTCGGCCGTCAGCCTTTGGATCATGCGGTTCAGCTCATTGATCTCCTCCTTGGTGCGGCGCAGGGTCTCCCCGTGCCTGATCACCGTGGCCTTCATCTCCTCACACTGGGGGAAGTAGAGATGCTCATGAGGTTCAGGGTGGGACCTCCCATCCATTCAGGACACCACAGATGATTTTGCAGGTTGTACAGTGCTCAGCCTGTGCAGCCACACATGGCAGTCCTGCCCTGCCACCCCAACCTCAGATTGGCAGCCCTCTCTTCTCATCCCTAGGGACCAGCATCCCCAGAAAAGGAAGCCTATTTAATAGATATCTCACATCCCTCCCACTGACACGTCTAGCAGGCAGGTGTCCTGTGCCACTCACCTTGCTGCGGTACCAGGACTCGGCCTCGGCCCGGCTGCGGGTGACAATGTCGTCATACTGTGCCTTAATCTCGGCAATGATGCAGTCCATGTTCAGGTCCCGGCTGTTGTCCAGCTTGACAACCACGGAGGTGTCTGAGATGTGCGACTGGAGAATGAGGATCTCCTGCAGGAGGTGAGGGCAGTGACTTTAGTTGAGAATACAGCCCCACCCACCATGTCCTGACTCCACCTCCTCAGGCTTTCTCTGGTCCCCAACCCTGCCCCCTCACACAGCCTCAGGGACTGCAACCTCTACCCACATCCTGTCCAACACTCCCACCCCCAACTCTCCTCTCTGCTGGCTGCCAGGTTTCTGTCTGGCCCCTGAGCCCGCACCTCCTCATACAGCCGCCTCAGGAAGTCGATCTCCTGGATCAGGGCCTCCACGTTGGCCTCCAGGTCTGACTTGCGGAGGTAGGCGCAGTCCACATCCTGGAAAGGTGGGGAGTGTTGGAGCTCAAGGACCCTGGTGATCCAGCCCCCAGACTCCTCTCTCTGCCCATCCATTCCATGTAGCCAGGGGAAAGCAGTCCCTGGTGTCCCATTCCCATGCCTTTCCTCCCCTTCTGCCCTTCCTGGGATGAGCTGGCATCCTCTGTCCCTCTGATGACAAACCCTGTTTGCCTTGACCATGCCTCACCAGCCTTTCACCCCTCCTTGCCCTCCTGTCTCTCCCTTCTCTCATCTCCTGCTCCAGGAAGCCTGCCCAGACTGACCCCCCAGCTCTCACACCCTGACCCTTTCCTGTCCCCCACAAGTGCTCCAAGAGCCCAGTGGCTGCTCCTGGTTCTTCTCCATCCCCCCTTAGACCCTGGGATTGTGTCTCTGCCTCAAGGTCAGACTCCCCAAAATGCTAGACAGACTGCACTGTCTCTCAGCAGAGACATTGTATCTGCTATGGCTCCAGGGGCCTCAGCAATAGACCACAACCTCTGGAACAGAGCAGGACACACAGAGGACAGTGCAGCCATCCCCTTGCCCAAGGTAGGTGCTGGTAGATATTCCCAAGTCATTGCCCTTTGTCAAGGCCCTGGATGCTCAATACAAAGGCCTGCATCTGGGCAGTCCTAGCCTGCTGTGGAAAGGTCATTGTGCCCCACGCTGAGGTTGAGACCCCCTGTGTGTCCCCAGGAAG
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Task1_train_17849
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This variant affects the gene KRT81, KRT86 (keratin 81| keratin 86) 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; not provided
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GAAATCCTTTAACTCATCAACTTATGAGGTGGTTGCCCTTTCTATCATCCTCATTTTGGAGGTGTGGAAACAGGCACAGAGAGGGTAAATACATTGCCCAACCCACTCACCTAGGAAGGACCAGGGCCCAGCTTGGGGCCCAGGCAGTCTGGCTGGAGTCCGTGTCCCCCCTCTATGCCACATCATCTTGCTATGTGCTGTTTTCTGTCTTTGAGGAAAATGTATCAGCTGTGGCAGGTCTCCAAAACCCCAGAGTGATGCCATTTAAAAAAAAAAAAAAGAAAGCCAACATCAAAGGCTTTTTGAAACTTTAAATCATATTCATGTATTCACCTCTTAAAGAATTCCAATAAATTACTCAGGCATGAGTCTTCCCTACCAAAGCAATGGGTGATGTTGCCTCAAGCTTTGAGTGATTGGTGAATCTGATTTTCATGATCCATCAGTTTGCAGATATGCATGAGATGTTTTCTGAGAGACAGCTGCAGTTTAGTGAAATGAGCACTAGCGACACACACAGGGCTTAAACCCCAGATGAACCACCCAACTAAGTGGGTGACCCTGCCCCAATTATTGAGTGCCTCTGAGTTCTGGCTTCTTCATCTGCAAGGTGTATCATTAGGGTTGTGTGGATAAAGTTACATCAAATAGGGGCCTAGCACAACTCTTGGCTAAATCTGAACCTTCTATGAGGCGGGGGATAGAAAACTGTACTGGAGACCCTTGGCTTGGCCTTTTGCTGCTCCATGTGACTTTGGGGACCCTCCCTAACCCCGACCCCTGAGGAGGGTAATAGAGACACACACAAGACCCAGGTTGGCTACATTAATTTATTGAAACACAGATCAAGAGCAGAGGAGGAAGGGGAGAGGCAGGAAGGCAGTTGCCGTGGGCAAGGTTCTGGTCCTGGCCCTTCCTGCTCCTGAGGCCCCTTCCTATGGGTGCCAGCGGACTTCTTTCTAGGGTGGCCTTTCCCACTGTGGGGTGGCAGAGCCCAGAAGTGGGGGATCACACAGAGAAATGTGAGGCCAGGAGTGGGAGGGGTCTTTCAAAGTGCAGGAGAAGTAGCTGAGCACTTGCTCCAGGCGCCTGGACTGGATGGGCCAAGCAAGGCAGGGCAGGAAAGATGCCTGGGGCCTGGGACTTGAGTTGGGGTGCCTAACATTTCCGGCAGCTGCTGCCGCAAGACCCCACACCCAGGGAGCTGATACCACAGGAGCCCACGCCGCAGGAACCCCCTCCGCAGGTGGTGTTCAATTGGCCGCAGGGCGCACACAGGCCGGTGCTCACCGCCACGTTCCCGTTGCACGGAGCGCTGCAGACACTGCCAGTCACTGGCCGGGAGCCTGACACGCAGAGGTCCCCGCACACGACCCCGCCCCGGGAGCTGCTGACACCTGTGAACCCCGAAGGCTGAGTCAAAATTCTGAAGGGCAAGCCATCCTGCCTTCCTGACAACCGCCCCTGCCCAAGACCTGAGCTCTGGTATGAAAAGTCAGAAGCATCTTTGTGGACAATTCTAGGTCCATCTAGTCCAAGAGCTGGGGTCTTTTGGATGTCTGACCCCAAATCCCTCCTGTTGTGATGCCAGCCCACTCTTTTATATTCAATCTCAGTAACACTCCTTTTTCCAAACTCTGCCCTCCATCACAGGTAGTTAGTAAATCTGTCCACACTGGACCCCAAATACTCACAGACATTCACAGCCCCAATGCCTTCACATAGCCTGAGGGCAAAAGAGAAAAAGGCAACATTAGTGACTGCCCCAGAGTGGCTGAAAAAGCTCCCCAGTTCATAGGGTAGGGTCCACAACTGGTCAATTAAGAACAGAGTCTGAGGGAACAGCTTGCCTCAGACAAACTCACACACCAGCCCTCCCCACACCGGAAGTGAATAATAATATTTTTTTCCCCCAGAGCCCTGGCCATTGCTCAGCCAAGGCCAAGGGTAGGCTTGTGCCAGGGATGGGGAAGGGTGGTTCTGGGCCACCCTTGGTTGGACCCACCTCTGCTCCTCGCCCTCCAGCAGGCGCCTGTAGGTGGCGATCTCGATGTCCAGGCCCAGCTTGGAGTTCATCACCTCCTGGTACTCCCTGATCAGGCAGGCCATGTCCTGCTTGGCCTTCTGCAGGGCGCCCTCCAGCTCGGCCAGCTTGCAGCGGGCATCACTGAGGGCCGCCTCACCCTGCTGCTCAGACTGGGCCACCGCGGCCTCCAGCTTGGAGTTCTGAAGAGAACAGAAAGAACAAGGTAGATTAGAGTCCCTGGGTCTCTCTGATGCTCATCCAAATGAGACCACACTCCCCACCAAGCTGGGAGCACCCCAGAACAGAGCCTCTTGCCTTTATCACCTGGGACTCATTGAGAGACCACGACCAGGGACTCTACATGGACAAAGGGGGTGGAGAATGAATGCTGAGATCCAGGTAGGGCACACATAGGCTGTGTGACAATGGTTAGGCCCTCGGTCTCTCTGACCTTGCGCACAGATGCCCCATACCTGGCACTTGGCATTCTCCACCTCGGCCGTCAGCCTTTGGATCATGCGGTTCAGCTCATTGATCTCCTCCTTGGTGCGGCGCAGGGTCTCCCCGTGCCTGATCACCGTGGCCTTCATCTCCTCACACTGGGGGAAGTAGAGATGCTCATGAGGTTCAGGGTGGGACCTCCCATCCATTCAGGACACCACAGATGATTTTGCAGGTTGTACAGTGCTCAGCCTGTGCAGCCACACATGGCAGTCCTGCCCTGCCACCCCAACCTCAGATTGGCAGCCCTCTCTTCTCATCCCTAGGGACCAGCATCCCCAGAAAAGGAAGCCTATTTAATAGATATCTCACATCCCTCCCACTGACACGTCTAGCAGGCAGGTGTCCTGTGCCACTCACCTTGCTGCGGTACCAGGACTCGGCCTCGGCCCGGCTGCGGGTGACAATGTCGTCATACTGTGCCTTAATCTCGGCAATGATGCAGTCCATGTTCAGGTCCCGGCTGTTGTCCAGCTTGACAACCACGGAGGTGTCTGAGATGTGCGACTGGAGAATGAGGATCTCCTGCAGGAGGTGAGGGCAGTGACTTTAGTTGAGAATACAGCCCCACCCACCATGTCCTGACTCCACCTCCTCAGGCTTTCTCTGGTCCCCAACCCTGCCCCCTCACACAGCCTCAGGGACTGCAACCTCTACCCACATCCTGTCCAACACTCCCACCCCCAACTCTCCTCTCTGCTGGCTGCCAGGTTTCTGTCTGGCCCCTGAGCCCGCACCTCCTCATACAGCCGCCTCAGGAAGTCGATCTCCTGGATCAGGGCCTCCACGTTGGCCTCCAGGTCTGACTTGCGGAGGTAGGCGCAGTCCACATCCTGGAAAGGTGGGGAGTGTTGGAGCTCAAGGACCCTGGTGATCCAGCCCCCAGACTCCTCTCTCTGCCCATCCATTCCATGTAGCCAGGGGAAAGCAGTCCCTGGTGTCCCATTCCCATGCCTTTCCTCCCCTTCTGCCCTTCCTGGGATGAGCTGGCATCCTCTGTCCCTCTGATGACAAACCCTGTTTGCCTTGACCATGCCTCACCAGCCTTTCACCCCTCCTTGCCCTCCTGTCTCTCCCTTCTCTCATCTCCTGCTCCAGGAAGCCTGCCCAGACTGACCCCCCAGCTCTCACACCCTGACCCTTTCCTGTCCCCCACAAGTGCTCCAAGAGCCCAGTGGCTGCTCCTGGTTCTTCTCCATCCCCCCTTAGACCCTGGGATTGTGTCTCTGCCTCAAGGTCAGACTCCCCAAAATGCTAGACAGACTGCACTGTCTCTCAGCAGAGACATTGTATCTGCTATGGCTCCAGGGGCCTCAGCAATAGACCACAACCTCTGGAACAGAGCAGGACACACAGAGGACAGTGCAGCCATCCCCTTGCCCAAGGTAGGTGCTGGTAGATATTCCCAAGTCATTGCCCTTTGTCAAGGCCCTGGATGCTCAATACAAAGGCCTGCATCTGGGCAGTCCTAGCCTGCTGTGGAAAGGTCATTGTGCCCCACGCTGAGGTTGAGACCCCCTGTGTGTCCCCAGGAAGAATCTGTCATTCTGAGATCCCACAGATCTGTGC
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GAAATCCTTTAACTCATCAACTTATGAGGTGGTTGCCCTTTCTATCATCCTCATTTTGGAGGTGTGGAAACAGGCACAGAGAGGGTAAATACATTGCCCAACCCACTCACCTAGGAAGGACCAGGGCCCAGCTTGGGGCCCAGGCAGTCTGGCTGGAGTCCGTGTCCCCCCTCTATGCCACATCATCTTGCTATGTGCTGTTTTCTGTCTTTGAGGAAAATGTATCAGCTGTGGCAGGTCTCCAAAACCCCAGAGTGATGCCATTTAAAAAAAAAAAAAAGAAAGCCAACATCAAAGGCTTTTTGAAACTTTAAATCATATTCATGTATTCACCTCTTAAAGAATTCCAATAAATTACTCAGGCATGAGTCTTCCCTACCAAAGCAATGGGTGATGTTGCCTCAAGCTTTGAGTGATTGGTGAATCTGATTTTCATGATCCATCAGTTTGCAGATATGCATGAGATGTTTTCTGAGAGACAGCTGCAGTTTAGTGAAATGAGCACTAGCGACACACACAGGGCTTAAACCCCAGATGAACCACCCAACTAAGTGGGTGACCCTGCCCCAATTATTGAGTGCCTCTGAGTTCTGGCTTCTTCATCTGCAAGGTGTATCATTAGGGTTGTGTGGATAAAGTTACATCAAATAGGGGCCTAGCACAACTCTTGGCTAAATCTGAACCTTCTATGAGGCGGGGGATAGAAAACTGTACTGGAGACCCTTGGCTTGGCCTTTTGCTGCTCCATGTGACTTTGGGGACCCTCCCTAACCCCGACCCCTGAGGAGGGTAATAGAGACACACACAAGACCCAGGTTGGCTACATTAATTTATTGAAACACAGATCAAGAGCAGAGGAGGAAGGGGAGAGGCAGGAAGGCAGTTGCCGTGGGCAAGGTTCTGGTCCTGGCCCTTCCTGCTCCTGAGGCCCCTTCCTATGGGTGCCAGCGGACTTCTTTCTAGGGTGGCCTTTCCCACTGTGGGGTGGCAGAGCCCAGAAGTGGGGGATCACACAGAGAAATGTGAGGCCAGGAGTGGGAGGGGTCTTTCAAAGTGCAGGAGAAGTAGCTGAGCACTTGCTCCAGGCGCCTGGACTGGATGGGCCAAGCAAGGCAGGGCAGGAAAGATGCCTGGGGCCTGGGACTTGAGTTGGGGTGCCTAACATTTCCGGCAGCTGCTGCCGCAAGACCCCACACCCAGGGAGCTGATACCACAGGAGCCCACGCCGCAGGAACCCCCTCCGCAGGTGGTGTTCAATTGGCCGCAGGGCGCACACAGGCCGGTGCTCACCGCCACGTTCCCGTTGCACGGAGCGCTGCAGACACTGCCAGTCACTGGCCGGGAGCCTGACACGCAGAGGTCCCCGCACACGACCCCGCCCCGGGAGCTGCTGACACCTGTGAACCCCGAAGGCTGAGTCAAAATTCTGAAGGGCAAGCCATCCTGCCTTCCTGACAACCGCCCCTGCCCAAGACCTGAGCTCTGGTATGAAAAGTCAGAAGCATCTTTGTGGACAATTCTAGGTCCATCTAGTCCAAGAGCTGGGGTCTTTTGGATGTCTGACCCCAAATCCCTCCTGTTGTGATGCCAGCCCACTCTTTTATATTCAATCTCAGTAACACTCCTTTTTCCAAACTCTGCCCTCCATCACAGGTAGTTAGTAAATCTGTCCACACTGGACCCCAAATACTCACAGACATTCACAGCCCCAATGCCTTCACATAGCCTGAGGGCAAAAGAGAAAAAGGCAACATTAGTGACTGCCCCAGAGTGGCTGAAAAAGCTCCCCAGTTCATAGGGTAGGGTCCACAACTGGTCAATTAAGAACAGAGTCTGAGGGAACAGCTTGCCTCAGACAAACTCACACACCAGCCCTCCCCACACCGGAAGTGAATAATAATATTTTTTTCCCCCAGAGCCCTGGCCATTGCTCAGCCAAGGCCAAGGGTAGGCTTGTGCCAGGGATGGGGAAGGGTGGTTCTGGGCCACCCTTGGTTGGACCCACCTCTGCTCCTCGCCCTCCAGCAGGCGCCTGTAGGTGGCGATCTTGATGTCCAGGCCCAGCTTGGAGTTCATCACCTCCTGGTACTCCCTGATCAGGCAGGCCATGTCCTGCTTGGCCTTCTGCAGGGCGCCCTCCAGCTCGGCCAGCTTGCAGCGGGCATCACTGAGGGCCGCCTCACCCTGCTGCTCAGACTGGGCCACCGCGGCCTCCAGCTTGGAGTTCTGAAGAGAACAGAAAGAACAAGGTAGATTAGAGTCCCTGGGTCTCTCTGATGCTCATCCAAATGAGACCACACTCCCCACCAAGCTGGGAGCACCCCAGAACAGAGCCTCTTGCCTTTATCACCTGGGACTCATTGAGAGACCACGACCAGGGACTCTACATGGACAAAGGGGGTGGAGAATGAATGCTGAGATCCAGGTAGGGCACACATAGGCTGTGTGACAATGGTTAGGCCCTCGGTCTCTCTGACCTTGCGCACAGATGCCCCATACCTGGCACTTGGCATTCTCCACCTCGGCCGTCAGCCTTTGGATCATGCGGTTCAGCTCATTGATCTCCTCCTTGGTGCGGCGCAGGGTCTCCCCGTGCCTGATCACCGTGGCCTTCATCTCCTCACACTGGGGGAAGTAGAGATGCTCATGAGGTTCAGGGTGGGACCTCCCATCCATTCAGGACACCACAGATGATTTTGCAGGTTGTACAGTGCTCAGCCTGTGCAGCCACACATGGCAGTCCTGCCCTGCCACCCCAACCTCAGATTGGCAGCCCTCTCTTCTCATCCCTAGGGACCAGCATCCCCAGAAAAGGAAGCCTATTTAATAGATATCTCACATCCCTCCCACTGACACGTCTAGCAGGCAGGTGTCCTGTGCCACTCACCTTGCTGCGGTACCAGGACTCGGCCTCGGCCCGGCTGCGGGTGACAATGTCGTCATACTGTGCCTTAATCTCGGCAATGATGCAGTCCATGTTCAGGTCCCGGCTGTTGTCCAGCTTGACAACCACGGAGGTGTCTGAGATGTGCGACTGGAGAATGAGGATCTCCTGCAGGAGGTGAGGGCAGTGACTTTAGTTGAGAATACAGCCCCACCCACCATGTCCTGACTCCACCTCCTCAGGCTTTCTCTGGTCCCCAACCCTGCCCCCTCACACAGCCTCAGGGACTGCAACCTCTACCCACATCCTGTCCAACACTCCCACCCCCAACTCTCCTCTCTGCTGGCTGCCAGGTTTCTGTCTGGCCCCTGAGCCCGCACCTCCTCATACAGCCGCCTCAGGAAGTCGATCTCCTGGATCAGGGCCTCCACGTTGGCCTCCAGGTCTGACTTGCGGAGGTAGGCGCAGTCCACATCCTGGAAAGGTGGGGAGTGTTGGAGCTCAAGGACCCTGGTGATCCAGCCCCCAGACTCCTCTCTCTGCCCATCCATTCCATGTAGCCAGGGGAAAGCAGTCCCTGGTGTCCCATTCCCATGCCTTTCCTCCCCTTCTGCCCTTCCTGGGATGAGCTGGCATCCTCTGTCCCTCTGATGACAAACCCTGTTTGCCTTGACCATGCCTCACCAGCCTTTCACCCCTCCTTGCCCTCCTGTCTCTCCCTTCTCTCATCTCCTGCTCCAGGAAGCCTGCCCAGACTGACCCCCCAGCTCTCACACCCTGACCCTTTCCTGTCCCCCACAAGTGCTCCAAGAGCCCAGTGGCTGCTCCTGGTTCTTCTCCATCCCCCCTTAGACCCTGGGATTGTGTCTCTGCCTCAAGGTCAGACTCCCCAAAATGCTAGACAGACTGCACTGTCTCTCAGCAGAGACATTGTATCTGCTATGGCTCCAGGGGCCTCAGCAATAGACCACAACCTCTGGAACAGAGCAGGACACACAGAGGACAGTGCAGCCATCCCCTTGCCCAAGGTAGGTGCTGGTAGATATTCCCAAGTCATTGCCCTTTGTCAAGGCCCTGGATGCTCAATACAAAGGCCTGCATCTGGGCAGTCCTAGCCTGCTGTGGAAAGGTCATTGTGCCCCACGCTGAGGTTGAGACCCCCTGTGTGTCCCCAGGAAGAATCTGTCATTCTGAGATCCCACAGATCTGTGC
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Task1_train_17850
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A mutation on Chromosome 12 affecting KRT86 (keratin 86) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Beaded hair
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ACATAGGCCATACAACTGAAACAAAAAGGGCATGTAACAAGTTATTCCCATGACATAAGGTGCAATCTGCTATTTTCTGGTCTATTCTACTCTATTTGATTTTCTCATAATCAATTTCATTAAAATAAAATTCTGGTTGGTTCAATTAGTGGGTCAGAACATGAATTCTGAATAAACACTGCCCCTGAGCCCACCGCTTCCTAATGATTGTAATGAAGCCCATCTGCTCTGTGCTCTGGAGTCCACTGAGCATGTACACATTTCTGTAACTCTAAGGCAGTAGTAGGAGGGAAAGCCTTAACCTATTTCCCAGGAGAGTCAAGTGCCTTCCCCTAGATCACACAGGGGTACTCAGGGCAGAGCCTTGGTTCCTACCCAGCCTTTGTGAGTTTAAGACCCACACTATTCACACTGGATGGATGGCACATACAAATATAGATCTGTTCTCTGGCACCTGCCAAGGGTACTGACAAACTTCTGTGCAGGAGTTTCAAGGAGTATAGTGCAGAAAGCAGCAGGGACTCAGGGGATGATGGCAGGGGCTGGATGCTCTCCTCATGTGGCTCTATTTGATCTCATATTCTGAGCCAGATACTGTATAGATGCATAACAGTGGTGCTCATCCCAGACCTTCTAGGCCCTGGAGGTTACACAGAGGCCTGAGAGGACATCCAGACATTCAATCCTTGTCTAGGGCCTTGTGGGAGGTAATTGTGCTTTCCTGGGGCCAGTGGGCTAGTGTGTGCTCCTGAGGCCGCATGGGACACTCTGAGGGAGGGAATGCCTCCTCTCAGCCGAGGCTGGCCAATATGACCTAATAAGGTGGCCTGAGGACTAGTCTACATGCTAGTTGAATGTGCAGGTGAGGACCTGTGAGTGTGTGTGTGTGTGTGAGATGGTGGGTAGAAAGGCCAGCATGTGAAAGCATTGTGTGTGTGAGTGTGTATGTGAAAGAGAGAGGGGGGGTTGTGAGTAGGAAGGCCAGCATGTGAGTGCATTGTGTGTGAGTTTGTGTGTGTATGTGTGTGTGCACCAGAGAGTGGGAGAGAGAGAGAGAAAAAAACATGTTGATAGGTATAGATAAGGGATTTGGGAGTAGGTGTGGAGGAACTGGGTCCCTGAGAAGGTGACTAAGTTAGAGATTCTGTAAACGTGGGTCTTTTGGGGTGCAGAAACAGGTCATCTAGTTCGGAGAAACCACCAAGCGCCCCCCAAGTTCCACATCAAGGGATTCCCCCTCCCAACATTCCTGGCTAGTCCTATGAGCACCGCGGACAGCGGCATTGACCATGTCAAACCCCGCAGGACAGAAAGAGCAGCAGCCCCGCCCCTTCCCTTCCATTCCAACCTGAGTCACTGCCCACTCCTTCGTCCAACGTCAGTTTCCTCAACTGTGTATTGGGAGGTTGAGGTGGGTGTGCGGGACGTGAGTTGGTCCTTTGAAGAAGAAAACTGCAGTTTAGGGCAAGAGATCATAACATCTGGCTGCTTCTGGGCACCAATTAAGTACATTAAGTGGGGAGCGACAGCAGCTAAACAACCCAAGCCCATAAAGCCTTCTAATTGCTCCGACCCACGTGGTCACAGTCTCCCCACTTATATAAAAGGCCTACAGAGGTGCAAGTAGTGAACGCCTGACGCCCCGACCACTGTGCTCTCCATTCGGACGTCTCCATCCTCAGAACCTCCTCTCTTCCCCAAAAAGCACCATGACTTGTGGATCTTACTGTGGTGGCCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCCCGGCCCGGCCGCTGCTGCATCACCGCCGCCCCCTACCGTGGCATCTCCTGCTACCGCGGCCTCACCGGGGGCTTCGGCAGCCACAGCGTGTGCGGAGGCTTTCGGGCCGGCTCCTGCGGACGCAGCTTCGGCTACCGCTCCGGGGGCGTGTGCGGGCCCAGTCCCCCATGCATCACCACCGTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCGCAGTGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTCATCGACAAGGTGGGTGTCCTGGATCACACCCTTCCTGAACCCCCACCACCTACACAGCCAGGGCCGGGCACTAAGGATGGAGTCAGAGGCACAAAGACCTCTGCCTGCCTGAGATCCCAGTCTGATGGGCGAGGCACACAGACACACAGACAGACAGACACATGCACAGACACACACACACAGGCACTCAAGATGCAGACTCAGCTGACAGTTCAGATAGAGGGAGCTTGTGAAGGAAAAGTGTGGCCAGGCTGCTCTGGGGCACAAGCTAGACATCAGGGAGTTGGGGGAGGGGGGCATGTGACCACTGCTGCTGAACTCAGAGGGGTTTGGGCAGCCCCAGGGTGAGAGAGTAGGGTGCACTGACTTCCAGATGACACAGGGGAAGGGCTGGGACAGCTGAGCTCCCTTCCAGATGGCCTGTGACACCCTCTTCCTGGCACCATCCCCAGAAACCTCATCTGTGATCTGAACCTGAGTACTCTGCCTGTGTGGGTTGCTGATCACCTAGTTTCATAGTGAGGGACTGAGCCTCTACTTCTGTTCATCTGCTTGGGTGGGGGGTGGGGGGGGGGTCACTCAACTCCCCAGGGAGCAGGCACTGACACCACCCAGCCCTTGCTCCACTCCTGAGTGGGAAATCTAGACACAGATCATGACCAGGAAATCCAGAAATTGTCTGTCTCCCACTGCCCACCTCTACTCAATCTCAGATAAGCTCCAGATTTGGGGGTTCCCATTAAAGCACCTCCCCTGCGAGCCCCCAGAGCTGGCTTTGGGGCACCAGACACCATCTGCCCCACCTTCCCACACCGAATGGCAGGTGCGCTTCCTGGAGCAGCAGAACAAACTGCTGGAGACAAAGCTGCAGTTCTACCAGAACCGCGAGTGTTGCCAGAGCAACCTGGAGCCCCTGTTTGAGGGCTACATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGGCTGGCCTCAGAGCTTAACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAAGTGAGTGCGGGCAAGAGGGATGCTGGGCACAGGAATGGGGTTTAGGTTAAATACACTGGATTAGACAATAAGAACTCCCAGGTAGGGTGAGTGGCCATGACCACTAGATTGACCGAGGGTGGCGGGGTCTTTTCCTTTGTGGAATCTTTGCCCAGACACCTGTGTAAGAGGAGGGCTGTGACTCCCATGACCTGTCTCTGTCCCACTTCAGCCTTCTCTCCCTGAACCACATCACCCAGCAGCTCTCCCCTGCGCTGGGTGGGGAGGAAGCCTCTGCAGGGTCCAGGCCTTCTCTCCTGACCCTCAGCCCCTATACTTGTAGCACCTGTCAGATGTGAGCCCAGGGTCTCTCATGAGTGACAGGTCTTGGGCTCTGGGTGTCGCACTGCCTTAGGTTCTAAGTCCTGAGGGTCTGCGGGTCCAGGAGGCCCCATACCTGAGCTGGGATTGATACCAGTGAGGGGAGGCTAGGGCTACAGGCCCTGAGAGTCCACGCTGTCCACTCCCAGGATGGGGCTGGGGGCTGAGTCCTATTTGCCTCCTGGGGGACCTCAGAGCCCCTTTGGGAACAGGACTGGGAGGTCCCAGATGAGCACTCTCCATCCCCAGTTCAAAGTGGATAGAGAATCCCAGACACATCCCACATCCAACTAGAAAGCACTAAGCTAGGCTGCCAGGCCGGGGCTGTGTGGAGGTGTTTCTAGTACTGTCCCCATGGCTGTGATGAAGTGTGATGTGATGGTGGCTCTGCAGAGACCTGCCCTGCCCTGACCTCCCCTCTCTTCCCTCTGCTCTGTCTCAGGTATGAGGAGGAGGTTTCTCTGAGAGCAACAGCTGAGAACGAGTTTGTGGCTCTGAAGAAGGCAAGTGACACAGGATTGAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCA
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ACATAGGCCATACAACTGAAACAAAAAGGGCATGTAACAAGTTATTCCCATGACATAAGGTGCAATCTGCTATTTTCTGGTCTATTCTACTCTATTTGATTTTCTCATAATCAATTTCATTAAAATAAAATTCTGGTTGGTTCAATTAGTGGGTCAGAACATGAATTCTGAATAAACACTGCCCCTGAGCCCACCGCTTCCTAATGATTGTAATGAAGCCCATCTGCTCTGTGCTCTGGAGTCCACTGAGCATGTACACATTTCTGTAACTCTAAGGCAGTAGTAGGAGGGAAAGCCTTAACCTATTTCCCAGGAGAGTCAAGTGCCTTCCCCTAGATCACACAGGGGTACTCAGGGCAGAGCCTTGGTTCCTACCCAGCCTTTGTGAGTTTAAGACCCACACTATTCACACTGGATGGATGGCACATACAAATATAGATCTGTTCTCTGGCACCTGCCAAGGGTACTGACAAACTTCTGTGCAGGAGTTTCAAGGAGTATAGTGCAGAAAGCAGCAGGGACTCAGGGGATGATGGCAGGGGCTGGATGCTCTCCTCATGTGGCTCTATTTGATCTCATATTCTGAGCCAGATACTGTATAGATGCATAACAGTGGTGCTCATCCCAGACCTTCTAGGCCCTGGAGGTTACACAGAGGCCTGAGAGGACATCCAGACATTCAATCCTTGTCTAGGGCCTTGTGGGAGGTAATTGTGCTTTCCTGGGGCCAGTGGGCTAGTGTGTGCTCCTGAGGCCGCATGGGACACTCTGAGGGAGGGAATGCCTCCTCTCAGCCGAGGCTGGCCAATATGACCTAATAAGGTGGCCTGAGGACTAGTCTACATGCTAGTTGAATGTGCAGGTGAGGACCTGTGAGTGTGTGTGTGTGTGTGAGATGGTGGGTAGAAAGGCCAGCATGTGAAAGCATTGTGTGTGTGAGTGTGTATGTGAAAGAGAGAGGGGGGGTTGTGAGTAGGAAGGCCAGCATGTGAGTGCATTGTGTGTGAGTTTGTGTGTGTATGTGTGTGTGCACCAGAGAGTGGGAGAGAGAGAGAGAAAAAAACATGTTGATAGGTATAGATAAGGGATTTGGGAGTAGGTGTGGAGGAACTGGGTCCCTGAGAAGGTGACTAAGTTAGAGATTCTGTAAACGTGGGTCTTTTGGGGTGCAGAAACAGGTCATCTAGTTCGGAGAAACCACCAAGCGCCCCCCAAGTTCCACATCAAGGGATTCCCCCTCCCAACATTCCTGGCTAGTCCTATGAGCACCGCGGACAGCGGCATTGACCATGTCAAACCCCGCAGGACAGAAAGAGCAGCAGCCCCGCCCCTTCCCTTCCATTCCAACCTGAGTCACTGCCCACTCCTTCGTCCAACGTCAGTTTCCTCAACTGTGTATTGGGAGGTTGAGGTGGGTGTGCGGGACGTGAGTTGGTCCTTTGAAGAAGAAAACTGCAGTTTAGGGCAAGAGATCATAACATCTGGCTGCTTCTGGGCACCAATTAAGTACATTAAGTGGGGAGCGACAGCAGCTAAACAACCCAAGCCCATAAAGCCTTCTAATTGCTCCGACCCACGTGGTCACAGTCTCCCCACTTATATAAAAGGCCTACAGAGGTGCAAGTAGTGAACGCCTGACGCCCCGACCACTGTGCTCTCCATTCGGACGTCTCCATCCTCAGAACCTCCTCTCTTCCCCAAAAAGCACCATGACTTGTGGATCTTACTGTGGTGGCCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCCCGGCCCGGCCGCTGCTGCATCACCGCCGCCCCCTACCGTGGCATCTCCTGCTACCGCGGCCTCACCGGGGGCTTCGGCAGCCACAGCGTGTGCGGAGGCTTTCGGGCCGGCTCCTGCGGACGCAGCTTCGGCTACCGCTCCGGGGGCGTGTGCGGGCCCAGTCCCCCATGCATCACCACCGTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCGCAGTGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCGACAGCAGGTTCGCGGCCTTCATCGACAAGGTGGGTGTCCTGGATCACACCCTTCCTGAACCCCCACCACCTACACAGCCAGGGCCGGGCACTAAGGATGGAGTCAGAGGCACAAAGACCTCTGCCTGCCTGAGATCCCAGTCTGATGGGCGAGGCACACAGACACACAGACAGACAGACACATGCACAGACACACACACACAGGCACTCAAGATGCAGACTCAGCTGACAGTTCAGATAGAGGGAGCTTGTGAAGGAAAAGTGTGGCCAGGCTGCTCTGGGGCACAAGCTAGACATCAGGGAGTTGGGGGAGGGGGGCATGTGACCACTGCTGCTGAACTCAGAGGGGTTTGGGCAGCCCCAGGGTGAGAGAGTAGGGTGCACTGACTTCCAGATGACACAGGGGAAGGGCTGGGACAGCTGAGCTCCCTTCCAGATGGCCTGTGACACCCTCTTCCTGGCACCATCCCCAGAAACCTCATCTGTGATCTGAACCTGAGTACTCTGCCTGTGTGGGTTGCTGATCACCTAGTTTCATAGTGAGGGACTGAGCCTCTACTTCTGTTCATCTGCTTGGGTGGGGGGTGGGGGGGGGGTCACTCAACTCCCCAGGGAGCAGGCACTGACACCACCCAGCCCTTGCTCCACTCCTGAGTGGGAAATCTAGACACAGATCATGACCAGGAAATCCAGAAATTGTCTGTCTCCCACTGCCCACCTCTACTCAATCTCAGATAAGCTCCAGATTTGGGGGTTCCCATTAAAGCACCTCCCCTGCGAGCCCCCAGAGCTGGCTTTGGGGCACCAGACACCATCTGCCCCACCTTCCCACACCGAATGGCAGGTGCGCTTCCTGGAGCAGCAGAACAAACTGCTGGAGACAAAGCTGCAGTTCTACCAGAACCGCGAGTGTTGCCAGAGCAACCTGGAGCCCCTGTTTGAGGGCTACATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGGCTGGCCTCAGAGCTTAACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAAGTGAGTGCGGGCAAGAGGGATGCTGGGCACAGGAATGGGGTTTAGGTTAAATACACTGGATTAGACAATAAGAACTCCCAGGTAGGGTGAGTGGCCATGACCACTAGATTGACCGAGGGTGGCGGGGTCTTTTCCTTTGTGGAATCTTTGCCCAGACACCTGTGTAAGAGGAGGGCTGTGACTCCCATGACCTGTCTCTGTCCCACTTCAGCCTTCTCTCCCTGAACCACATCACCCAGCAGCTCTCCCCTGCGCTGGGTGGGGAGGAAGCCTCTGCAGGGTCCAGGCCTTCTCTCCTGACCCTCAGCCCCTATACTTGTAGCACCTGTCAGATGTGAGCCCAGGGTCTCTCATGAGTGACAGGTCTTGGGCTCTGGGTGTCGCACTGCCTTAGGTTCTAAGTCCTGAGGGTCTGCGGGTCCAGGAGGCCCCATACCTGAGCTGGGATTGATACCAGTGAGGGGAGGCTAGGGCTACAGGCCCTGAGAGTCCACGCTGTCCACTCCCAGGATGGGGCTGGGGGCTGAGTCCTATTTGCCTCCTGGGGGACCTCAGAGCCCCTTTGGGAACAGGACTGGGAGGTCCCAGATGAGCACTCTCCATCCCCAGTTCAAAGTGGATAGAGAATCCCAGACACATCCCACATCCAACTAGAAAGCACTAAGCTAGGCTGCCAGGCCGGGGCTGTGTGGAGGTGTTTCTAGTACTGTCCCCATGGCTGTGATGAAGTGTGATGTGATGGTGGCTCTGCAGAGACCTGCCCTGCCCTGACCTCCCCTCTCTTCCCTCTGCTCTGTCTCAGGTATGAGGAGGAGGTTTCTCTGAGAGCAACAGCTGAGAACGAGTTTGTGGCTCTGAAGAAGGCAAGTGACACAGGATTGAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCA
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Task1_train_17851
|
Given this variant in gene KRT86 (keratin 86) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Beaded hair
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AACTGAAACAAAAAGGGCATGTAACAAGTTATTCCCATGACATAAGGTGCAATCTGCTATTTTCTGGTCTATTCTACTCTATTTGATTTTCTCATAATCAATTTCATTAAAATAAAATTCTGGTTGGTTCAATTAGTGGGTCAGAACATGAATTCTGAATAAACACTGCCCCTGAGCCCACCGCTTCCTAATGATTGTAATGAAGCCCATCTGCTCTGTGCTCTGGAGTCCACTGAGCATGTACACATTTCTGTAACTCTAAGGCAGTAGTAGGAGGGAAAGCCTTAACCTATTTCCCAGGAGAGTCAAGTGCCTTCCCCTAGATCACACAGGGGTACTCAGGGCAGAGCCTTGGTTCCTACCCAGCCTTTGTGAGTTTAAGACCCACACTATTCACACTGGATGGATGGCACATACAAATATAGATCTGTTCTCTGGCACCTGCCAAGGGTACTGACAAACTTCTGTGCAGGAGTTTCAAGGAGTATAGTGCAGAAAGCAGCAGGGACTCAGGGGATGATGGCAGGGGCTGGATGCTCTCCTCATGTGGCTCTATTTGATCTCATATTCTGAGCCAGATACTGTATAGATGCATAACAGTGGTGCTCATCCCAGACCTTCTAGGCCCTGGAGGTTACACAGAGGCCTGAGAGGACATCCAGACATTCAATCCTTGTCTAGGGCCTTGTGGGAGGTAATTGTGCTTTCCTGGGGCCAGTGGGCTAGTGTGTGCTCCTGAGGCCGCATGGGACACTCTGAGGGAGGGAATGCCTCCTCTCAGCCGAGGCTGGCCAATATGACCTAATAAGGTGGCCTGAGGACTAGTCTACATGCTAGTTGAATGTGCAGGTGAGGACCTGTGAGTGTGTGTGTGTGTGTGAGATGGTGGGTAGAAAGGCCAGCATGTGAAAGCATTGTGTGTGTGAGTGTGTATGTGAAAGAGAGAGGGGGGGTTGTGAGTAGGAAGGCCAGCATGTGAGTGCATTGTGTGTGAGTTTGTGTGTGTATGTGTGTGTGCACCAGAGAGTGGGAGAGAGAGAGAGAAAAAAACATGTTGATAGGTATAGATAAGGGATTTGGGAGTAGGTGTGGAGGAACTGGGTCCCTGAGAAGGTGACTAAGTTAGAGATTCTGTAAACGTGGGTCTTTTGGGGTGCAGAAACAGGTCATCTAGTTCGGAGAAACCACCAAGCGCCCCCCAAGTTCCACATCAAGGGATTCCCCCTCCCAACATTCCTGGCTAGTCCTATGAGCACCGCGGACAGCGGCATTGACCATGTCAAACCCCGCAGGACAGAAAGAGCAGCAGCCCCGCCCCTTCCCTTCCATTCCAACCTGAGTCACTGCCCACTCCTTCGTCCAACGTCAGTTTCCTCAACTGTGTATTGGGAGGTTGAGGTGGGTGTGCGGGACGTGAGTTGGTCCTTTGAAGAAGAAAACTGCAGTTTAGGGCAAGAGATCATAACATCTGGCTGCTTCTGGGCACCAATTAAGTACATTAAGTGGGGAGCGACAGCAGCTAAACAACCCAAGCCCATAAAGCCTTCTAATTGCTCCGACCCACGTGGTCACAGTCTCCCCACTTATATAAAAGGCCTACAGAGGTGCAAGTAGTGAACGCCTGACGCCCCGACCACTGTGCTCTCCATTCGGACGTCTCCATCCTCAGAACCTCCTCTCTTCCCCAAAAAGCACCATGACTTGTGGATCTTACTGTGGTGGCCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCCCGGCCCGGCCGCTGCTGCATCACCGCCGCCCCCTACCGTGGCATCTCCTGCTACCGCGGCCTCACCGGGGGCTTCGGCAGCCACAGCGTGTGCGGAGGCTTTCGGGCCGGCTCCTGCGGACGCAGCTTCGGCTACCGCTCCGGGGGCGTGTGCGGGCCCAGTCCCCCATGCATCACCACCGTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCGCAGTGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTCATCGACAAGGTGGGTGTCCTGGATCACACCCTTCCTGAACCCCCACCACCTACACAGCCAGGGCCGGGCACTAAGGATGGAGTCAGAGGCACAAAGACCTCTGCCTGCCTGAGATCCCAGTCTGATGGGCGAGGCACACAGACACACAGACAGACAGACACATGCACAGACACACACACACAGGCACTCAAGATGCAGACTCAGCTGACAGTTCAGATAGAGGGAGCTTGTGAAGGAAAAGTGTGGCCAGGCTGCTCTGGGGCACAAGCTAGACATCAGGGAGTTGGGGGAGGGGGGCATGTGACCACTGCTGCTGAACTCAGAGGGGTTTGGGCAGCCCCAGGGTGAGAGAGTAGGGTGCACTGACTTCCAGATGACACAGGGGAAGGGCTGGGACAGCTGAGCTCCCTTCCAGATGGCCTGTGACACCCTCTTCCTGGCACCATCCCCAGAAACCTCATCTGTGATCTGAACCTGAGTACTCTGCCTGTGTGGGTTGCTGATCACCTAGTTTCATAGTGAGGGACTGAGCCTCTACTTCTGTTCATCTGCTTGGGTGGGGGGTGGGGGGGGGGTCACTCAACTCCCCAGGGAGCAGGCACTGACACCACCCAGCCCTTGCTCCACTCCTGAGTGGGAAATCTAGACACAGATCATGACCAGGAAATCCAGAAATTGTCTGTCTCCCACTGCCCACCTCTACTCAATCTCAGATAAGCTCCAGATTTGGGGGTTCCCATTAAAGCACCTCCCCTGCGAGCCCCCAGAGCTGGCTTTGGGGCACCAGACACCATCTGCCCCACCTTCCCACACCGAATGGCAGGTGCGCTTCCTGGAGCAGCAGAACAAACTGCTGGAGACAAAGCTGCAGTTCTACCAGAACCGCGAGTGTTGCCAGAGCAACCTGGAGCCCCTGTTTGAGGGCTACATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGGCTGGCCTCAGAGCTTAACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAAGTGAGTGCGGGCAAGAGGGATGCTGGGCACAGGAATGGGGTTTAGGTTAAATACACTGGATTAGACAATAAGAACTCCCAGGTAGGGTGAGTGGCCATGACCACTAGATTGACCGAGGGTGGCGGGGTCTTTTCCTTTGTGGAATCTTTGCCCAGACACCTGTGTAAGAGGAGGGCTGTGACTCCCATGACCTGTCTCTGTCCCACTTCAGCCTTCTCTCCCTGAACCACATCACCCAGCAGCTCTCCCCTGCGCTGGGTGGGGAGGAAGCCTCTGCAGGGTCCAGGCCTTCTCTCCTGACCCTCAGCCCCTATACTTGTAGCACCTGTCAGATGTGAGCCCAGGGTCTCTCATGAGTGACAGGTCTTGGGCTCTGGGTGTCGCACTGCCTTAGGTTCTAAGTCCTGAGGGTCTGCGGGTCCAGGAGGCCCCATACCTGAGCTGGGATTGATACCAGTGAGGGGAGGCTAGGGCTACAGGCCCTGAGAGTCCACGCTGTCCACTCCCAGGATGGGGCTGGGGGCTGAGTCCTATTTGCCTCCTGGGGGACCTCAGAGCCCCTTTGGGAACAGGACTGGGAGGTCCCAGATGAGCACTCTCCATCCCCAGTTCAAAGTGGATAGAGAATCCCAGACACATCCCACATCCAACTAGAAAGCACTAAGCTAGGCTGCCAGGCCGGGGCTGTGTGGAGGTGTTTCTAGTACTGTCCCCATGGCTGTGATGAAGTGTGATGTGATGGTGGCTCTGCAGAGACCTGCCCTGCCCTGACCTCCCCTCTCTTCCCTCTGCTCTGTCTCAGGTATGAGGAGGAGGTTTCTCTGAGAGCAACAGCTGAGAACGAGTTTGTGGCTCTGAAGAAGGCAAGTGACACAGGATTGAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTT
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AACTGAAACAAAAAGGGCATGTAACAAGTTATTCCCATGACATAAGGTGCAATCTGCTATTTTCTGGTCTATTCTACTCTATTTGATTTTCTCATAATCAATTTCATTAAAATAAAATTCTGGTTGGTTCAATTAGTGGGTCAGAACATGAATTCTGAATAAACACTGCCCCTGAGCCCACCGCTTCCTAATGATTGTAATGAAGCCCATCTGCTCTGTGCTCTGGAGTCCACTGAGCATGTACACATTTCTGTAACTCTAAGGCAGTAGTAGGAGGGAAAGCCTTAACCTATTTCCCAGGAGAGTCAAGTGCCTTCCCCTAGATCACACAGGGGTACTCAGGGCAGAGCCTTGGTTCCTACCCAGCCTTTGTGAGTTTAAGACCCACACTATTCACACTGGATGGATGGCACATACAAATATAGATCTGTTCTCTGGCACCTGCCAAGGGTACTGACAAACTTCTGTGCAGGAGTTTCAAGGAGTATAGTGCAGAAAGCAGCAGGGACTCAGGGGATGATGGCAGGGGCTGGATGCTCTCCTCATGTGGCTCTATTTGATCTCATATTCTGAGCCAGATACTGTATAGATGCATAACAGTGGTGCTCATCCCAGACCTTCTAGGCCCTGGAGGTTACACAGAGGCCTGAGAGGACATCCAGACATTCAATCCTTGTCTAGGGCCTTGTGGGAGGTAATTGTGCTTTCCTGGGGCCAGTGGGCTAGTGTGTGCTCCTGAGGCCGCATGGGACACTCTGAGGGAGGGAATGCCTCCTCTCAGCCGAGGCTGGCCAATATGACCTAATAAGGTGGCCTGAGGACTAGTCTACATGCTAGTTGAATGTGCAGGTGAGGACCTGTGAGTGTGTGTGTGTGTGTGAGATGGTGGGTAGAAAGGCCAGCATGTGAAAGCATTGTGTGTGTGAGTGTGTATGTGAAAGAGAGAGGGGGGGTTGTGAGTAGGAAGGCCAGCATGTGAGTGCATTGTGTGTGAGTTTGTGTGTGTATGTGTGTGTGCACCAGAGAGTGGGAGAGAGAGAGAGAAAAAAACATGTTGATAGGTATAGATAAGGGATTTGGGAGTAGGTGTGGAGGAACTGGGTCCCTGAGAAGGTGACTAAGTTAGAGATTCTGTAAACGTGGGTCTTTTGGGGTGCAGAAACAGGTCATCTAGTTCGGAGAAACCACCAAGCGCCCCCCAAGTTCCACATCAAGGGATTCCCCCTCCCAACATTCCTGGCTAGTCCTATGAGCACCGCGGACAGCGGCATTGACCATGTCAAACCCCGCAGGACAGAAAGAGCAGCAGCCCCGCCCCTTCCCTTCCATTCCAACCTGAGTCACTGCCCACTCCTTCGTCCAACGTCAGTTTCCTCAACTGTGTATTGGGAGGTTGAGGTGGGTGTGCGGGACGTGAGTTGGTCCTTTGAAGAAGAAAACTGCAGTTTAGGGCAAGAGATCATAACATCTGGCTGCTTCTGGGCACCAATTAAGTACATTAAGTGGGGAGCGACAGCAGCTAAACAACCCAAGCCCATAAAGCCTTCTAATTGCTCCGACCCACGTGGTCACAGTCTCCCCACTTATATAAAAGGCCTACAGAGGTGCAAGTAGTGAACGCCTGACGCCCCGACCACTGTGCTCTCCATTCGGACGTCTCCATCCTCAGAACCTCCTCTCTTCCCCAAAAAGCACCATGACTTGTGGATCTTACTGTGGTGGCCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCCCGGCCCGGCCGCTGCTGCATCACCGCCGCCCCCTACCGTGGCATCTCCTGCTACCGCGGCCTCACCGGGGGCTTCGGCAGCCACAGCGTGTGCGGAGGCTTTCGGGCCGGCTCCTGCGGACGCAGCTTCGGCTACCGCTCCGGGGGCGTGTGCGGGCCCAGTCCCCCATGCATCACCACCGTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCGCAGTGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGAGGCCTTCATCGACAAGGTGGGTGTCCTGGATCACACCCTTCCTGAACCCCCACCACCTACACAGCCAGGGCCGGGCACTAAGGATGGAGTCAGAGGCACAAAGACCTCTGCCTGCCTGAGATCCCAGTCTGATGGGCGAGGCACACAGACACACAGACAGACAGACACATGCACAGACACACACACACAGGCACTCAAGATGCAGACTCAGCTGACAGTTCAGATAGAGGGAGCTTGTGAAGGAAAAGTGTGGCCAGGCTGCTCTGGGGCACAAGCTAGACATCAGGGAGTTGGGGGAGGGGGGCATGTGACCACTGCTGCTGAACTCAGAGGGGTTTGGGCAGCCCCAGGGTGAGAGAGTAGGGTGCACTGACTTCCAGATGACACAGGGGAAGGGCTGGGACAGCTGAGCTCCCTTCCAGATGGCCTGTGACACCCTCTTCCTGGCACCATCCCCAGAAACCTCATCTGTGATCTGAACCTGAGTACTCTGCCTGTGTGGGTTGCTGATCACCTAGTTTCATAGTGAGGGACTGAGCCTCTACTTCTGTTCATCTGCTTGGGTGGGGGGTGGGGGGGGGGTCACTCAACTCCCCAGGGAGCAGGCACTGACACCACCCAGCCCTTGCTCCACTCCTGAGTGGGAAATCTAGACACAGATCATGACCAGGAAATCCAGAAATTGTCTGTCTCCCACTGCCCACCTCTACTCAATCTCAGATAAGCTCCAGATTTGGGGGTTCCCATTAAAGCACCTCCCCTGCGAGCCCCCAGAGCTGGCTTTGGGGCACCAGACACCATCTGCCCCACCTTCCCACACCGAATGGCAGGTGCGCTTCCTGGAGCAGCAGAACAAACTGCTGGAGACAAAGCTGCAGTTCTACCAGAACCGCGAGTGTTGCCAGAGCAACCTGGAGCCCCTGTTTGAGGGCTACATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGGCTGGCCTCAGAGCTTAACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAAGTGAGTGCGGGCAAGAGGGATGCTGGGCACAGGAATGGGGTTTAGGTTAAATACACTGGATTAGACAATAAGAACTCCCAGGTAGGGTGAGTGGCCATGACCACTAGATTGACCGAGGGTGGCGGGGTCTTTTCCTTTGTGGAATCTTTGCCCAGACACCTGTGTAAGAGGAGGGCTGTGACTCCCATGACCTGTCTCTGTCCCACTTCAGCCTTCTCTCCCTGAACCACATCACCCAGCAGCTCTCCCCTGCGCTGGGTGGGGAGGAAGCCTCTGCAGGGTCCAGGCCTTCTCTCCTGACCCTCAGCCCCTATACTTGTAGCACCTGTCAGATGTGAGCCCAGGGTCTCTCATGAGTGACAGGTCTTGGGCTCTGGGTGTCGCACTGCCTTAGGTTCTAAGTCCTGAGGGTCTGCGGGTCCAGGAGGCCCCATACCTGAGCTGGGATTGATACCAGTGAGGGGAGGCTAGGGCTACAGGCCCTGAGAGTCCACGCTGTCCACTCCCAGGATGGGGCTGGGGGCTGAGTCCTATTTGCCTCCTGGGGGACCTCAGAGCCCCTTTGGGAACAGGACTGGGAGGTCCCAGATGAGCACTCTCCATCCCCAGTTCAAAGTGGATAGAGAATCCCAGACACATCCCACATCCAACTAGAAAGCACTAAGCTAGGCTGCCAGGCCGGGGCTGTGTGGAGGTGTTTCTAGTACTGTCCCCATGGCTGTGATGAAGTGTGATGTGATGGTGGCTCTGCAGAGACCTGCCCTGCCCTGACCTCCCCTCTCTTCCCTCTGCTCTGTCTCAGGTATGAGGAGGAGGTTTCTCTGAGAGCAACAGCTGAGAACGAGTTTGTGGCTCTGAAGAAGGCAAGTGACACAGGATTGAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTT
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Task1_train_17852
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This is a variant in KRT86 (keratin 86), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Beaded hair
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GAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACAATCCCAGGTTCTAAGGGGGGATGGAGAAGAACCAGGAGTAGCCCTTGGGCTTTTGGAGCACTGCTGGGGGACAGGAAAGGGTCAGGGTGTGAGAGCTGGGGGGTCAGTCTGGGCAGGCTTCCTGGAGCAGGAGAGGGGAGAAAGGAGAGATAAGAGGGTAAGGAGCAGTGAAAGGCTGGTGAGCCGTGCCCAAGACAAACAGGGTTTGTCCTCAGAATGGCAGAGGATGCCAGGTCACCCCGGGAAGGGCCAGAAGGGAAGGAGAGGGCATGGGAATGAGACACTGGGGACTCCTTTCCCCAGGCTTCATGGAATGGGTGGGAAGAGAGAGGAATCTAGAGGCTGGATCACCAGGGTCCTTGAGCTCCAACACTCCCCACCTTTCCAGGATGTGGACTGCGCCTACCTCCGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAGGTGCGGGCTCAGGGGCCAGGCAGAGACCTGGCAGCCAGCAGAGAGGAGAGATGGGGGTGGGAGTGTTGGACAGGATGTGGGTAGAGGTTGCAGTCCCTGAGGCTGTGTGAGGGGGCAGGGTTGGGGACCAGAGAAAGCCTGAGGAGGTGGAGTCAGGACATGGTGGGTGGGGCTGTGTTCTCAACTAAAGTCACTGCCCTCACCTCCTGCAGGAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCACAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAGGTGAGTGGCACAGGACACCTGCCTGCTAGACATGGCAGTGGGAGGGATTTGAGATTATCTATTAAATAGGCTTCCTTTTCTGGGGATGCACTAGGGATGAGAAGAGATGGCTGCCACTCTGATGTTGGGGTGGTAGGGCAGGACTGCCATGTGTGGTTGCACAGGCTGAGCACTGCACAACCTGCAAAATCATCTGTCATGCCCTGAATGGGTGGGAGGTCCCACCCTGAACCTCATGAGCATCTCTACTTCCCCCAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAGTGCCAGGTATGGGGCATCTGTGCCCAAGGTCAGAGAGACCGAGGGTCTAACCATGGTCACACAGCCTATGTGTGCCCTATCTGGATCTCAGCATTCATTCTCCAGCCCCTCTGTCCATGTAGAGTCCCTGGTTGTGGTCTCTGTGAGTCCCAGGTGATGAAGGCAAGAGGCTCTGTTCTGGGGTGCTCCCAGCTTGGTGGGGAGCATGGTCTCATCGAGGTAAGCATCAGAGAGACCCAGGGACTCTAATCTACCTTGTTCTCTCTGTTCTCTTCAGAATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCCATAGACCTTTCCCTTTCCCAGCCCTGCCAGGGTTCTCAGTGTGCTCTGTCCTCACACTCCTGGCAGCATTTAAGTTTTGTTTCTTAACCTCCCCACCCTGCAACCAGACAGGTAATTTGTGTAAGTCCTTTAAGTATGATCTAGCCCCGTTTGAGTCTCTCATGTTCACCCAGGCACTGATCTGAGATTGCAGTCTTGTTCATCTCAGTTGAGATCCAGTAATCTGGCAGCAGGTATTCCTGTTACTGAGAAGCCTAATTAAGGCTTGGGGTCAGCTTGCCTGGGTAGTGCTTCTTCCCTTCCAGCTGTAGCTGCATGTGCTTCTCAGGATTCCTTCTCTTTTTCCTAGTCTGGCCCTGGCCCCATCTAGACCTGGGAGTTCAGATGTATCCCATAAGGACAGCTTCAGATAGATGACACTATCAACTCATGCTTTTCTATTATAGTGCCAATGAGCATCCCAAAGTGGTATTCCATTGTGGCAGGTGGGAATGAGTTAGGCAGAGAGCAAGGACTTATCCCTTGGGGCAGTTATGCCTTGCTTTCAGGATTTTTGCTTGTTTGCTTGCTTCAGAGGTGGGGGGAGTGGAGAAGACCCATTGGTCACTCAGCCTTCCTATGGCTGGAGGCCAGCGATACAGCTGGAGGGCAGCTATACAGCTCCTGCTCCCAGAAGGACAACACTCCCAGAATGTGAGCTCATTCTTTGCCCTTGGTTTCTTTCCCCTAGTTGGTCAGTTGGTCTCACTCGAAGCTCCTTTTTTTTTGTGGACAGTCAGGCCCTTGGCCCTGGGGAGAGGAGGGTGAAGGTTGGGGATGCAGAGGGAGCATCTTGTTTATTTGGGAAATGGGGAACACAGGTTTGGGACCTAGAAACTAAAGTGACCATATGACGAGATTTCCACCAAACTCGAGTTGTTCCATTGGAAAGCTCAGAGGCAGGGGTCTGTCTGGCTGGGCCTGGGGAATTTCATAAGTGAAGAATTCTGGGAGGAGGAGTTTTCCAAGTCTGAATTTGGAAGTTGGAGAAACACATGGAGATGGCATTGGAATCTGAGTGGCCCACTCCTCCATCACACGGGGCTCTTGGAGTGAACTCAGGAGCTTTGGTATGTGTTACCTAGGGAACCTGGGCATGGAATGATTTGATGGTGGCCATGGCTTCTCTTATCTGAAGCTGATTTAACCAATCCTTGGCCAGTGTGCTTTCAGGGGAACTCCATTTTCTTCCCTTAGGGGAAGCTATTGGGAGGGAAATGTGGGGTGGGTAGAAATGAGTGTCTGGGGTGACAGCCCTGCCTTGTCATTGGATATGTCCTCCTTCTGGGCCTCAGCCTTTCCATCTGCCGGATGAGAGGACTGTGGTGGGCAGTCTCTGAGCCTGTTCTAAAATCCCATTTGTTTATCTAACAGTTTTGTATTGAGCCAGGCATTGTTTTTAGGTGGTGCAGGAAGGAATAGACAAAAATGTCTACCCTCCTGATGCCTATAATCTAATGACACCAATCAGACTGGATTTCAGAAGTTAAATCTGCTCCCCTCAAATGCACCTGCAATTCAGTCAGAACCAACTTCGAGGTAGTGGCAGCTAATAGCTCTTAAGGGCTATGAGCCAGGCACTAAGCACTGGACGCTTCTTATTTGATTCAGTCCTCGCAAGAGATCTACGAAGTAGGTTTTCCTGATGAGGAAGCCTAGGCTGAGGTTGGCCCAAGCTGGGGTTGCACAGCTCAGAAGCAGTGGAGAGCGAGGCACTCACAGGCCTTCTGTCTCCAGACCCTCACGGTGACCCGAGTCTACACTGGCTCCTGGCCGAGAGCATTTCTTGCCCCTTCCCTTGGGCAAGTGCCCAGATGGAGGGCCACAGATGTCCCCCTCCACTTCAGTCACGGGGGCCCGGCGCCTTTTCCGCGGCACTGACCTCTCGCCTTCTCTCCCTGCAGGCTGTGCGAGGGCGTCGGCTCGGTGAATGTCTGTAAGTAGTGGGGTCCGTCC
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GAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACAATCCCAGGTTCTAAGGGGGGATGGAGAAGAACCAGGAGTAGCCCTTGGGCTTTTGGAGCACTGCTGGGGGACAGGAAAGGGTCAGGGTGTGAGAGCTGGGGGGTCAGTCTGGGCAGGCTTCCTGGAGCAGGAGAGGGGAGAAAGGAGAGATAAGAGGGTAAGGAGCAGTGAAAGGCTGGTGAGCCGTGCCCAAGACAAACAGGGTTTGTCCTCAGAATGGCAGAGGATGCCAGGTCACCCCGGGAAGGGCCAGAAGGGAAGGAGAGGGCATGGGAATGAGACACTGGGGACTCCTTTCCCCAGGCTTCATGGAATGGGTGGGAAGAGAGAGGAATCTAGAGGCTGGATCACCAGGGTCCTTGAGCTCCAACACTCCCCACCTTTCCAGGATGTGGACTGCGCCTACCTCCGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAGGTGCGGGCTCAGGGGCCAGGCAGAGACCTGGCAGCCAGCAGAGAGGAGAGATGGGGGTGGGAGTGTTGGACAGGATGTGGGTAGAGGTTGCAGTCCCTGAGGCTGTGTGAGGGGGCAGGGTTGGGGACCAGAGAAAGCCTGAGGAGGTGGAGTCAGGACATGGTGGGTGGGGCTGTGTTCTCAACTAAAGTCACTGCCCTCACCTCCTGCAGGAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCACAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAGGTGAGTGGCACAGGACACCTGCCTGCTAGACATGGCAGTGGGAGGGATTTGAGATTATCTATTAAATAGGCTTCCTTTTCTGGGGATGCACTAGGGATGAGAAGAGATGGCTGCCACTCTGATGTTGGGGTGGTAGGGCAGGACTGCCATGTGTGGTTGCACAGGCTGAGCACTGCACAACCTGCAAAATCATCTGTCATGCCCTGAATGGGTGGGAGGTCCCACCCTGAACCTCATGAGCATCTCTACTTCCCCCAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAGTGCCAGGTATGGGGCATCTGTGCCCAAGGTCAGAGAGACCGAGGGTCTAACCATGGTCACACAGCCTATGTGTGCCCTATCTGGATCTCAGCATTCATTCTCCAGCCCCTCTGTCCATGTAGAGTCCCTGGTTGTGGTCTCTGTGAGTCCCAGGTGATGAAGGCAAGAGGCTCTGTTCTGGGGTGCTCCCAGCTTGGTGGGGAGCATGGTCTCATCGAGGTAAGCATCAGAGAGACCCAGGGACTCTAATCTACCTTGTTCTCTCTGTTCTCTTCAGAATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCAAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCCATAGACCTTTCCCTTTCCCAGCCCTGCCAGGGTTCTCAGTGTGCTCTGTCCTCACACTCCTGGCAGCATTTAAGTTTTGTTTCTTAACCTCCCCACCCTGCAACCAGACAGGTAATTTGTGTAAGTCCTTTAAGTATGATCTAGCCCCGTTTGAGTCTCTCATGTTCACCCAGGCACTGATCTGAGATTGCAGTCTTGTTCATCTCAGTTGAGATCCAGTAATCTGGCAGCAGGTATTCCTGTTACTGAGAAGCCTAATTAAGGCTTGGGGTCAGCTTGCCTGGGTAGTGCTTCTTCCCTTCCAGCTGTAGCTGCATGTGCTTCTCAGGATTCCTTCTCTTTTTCCTAGTCTGGCCCTGGCCCCATCTAGACCTGGGAGTTCAGATGTATCCCATAAGGACAGCTTCAGATAGATGACACTATCAACTCATGCTTTTCTATTATAGTGCCAATGAGCATCCCAAAGTGGTATTCCATTGTGGCAGGTGGGAATGAGTTAGGCAGAGAGCAAGGACTTATCCCTTGGGGCAGTTATGCCTTGCTTTCAGGATTTTTGCTTGTTTGCTTGCTTCAGAGGTGGGGGGAGTGGAGAAGACCCATTGGTCACTCAGCCTTCCTATGGCTGGAGGCCAGCGATACAGCTGGAGGGCAGCTATACAGCTCCTGCTCCCAGAAGGACAACACTCCCAGAATGTGAGCTCATTCTTTGCCCTTGGTTTCTTTCCCCTAGTTGGTCAGTTGGTCTCACTCGAAGCTCCTTTTTTTTTGTGGACAGTCAGGCCCTTGGCCCTGGGGAGAGGAGGGTGAAGGTTGGGGATGCAGAGGGAGCATCTTGTTTATTTGGGAAATGGGGAACACAGGTTTGGGACCTAGAAACTAAAGTGACCATATGACGAGATTTCCACCAAACTCGAGTTGTTCCATTGGAAAGCTCAGAGGCAGGGGTCTGTCTGGCTGGGCCTGGGGAATTTCATAAGTGAAGAATTCTGGGAGGAGGAGTTTTCCAAGTCTGAATTTGGAAGTTGGAGAAACACATGGAGATGGCATTGGAATCTGAGTGGCCCACTCCTCCATCACACGGGGCTCTTGGAGTGAACTCAGGAGCTTTGGTATGTGTTACCTAGGGAACCTGGGCATGGAATGATTTGATGGTGGCCATGGCTTCTCTTATCTGAAGCTGATTTAACCAATCCTTGGCCAGTGTGCTTTCAGGGGAACTCCATTTTCTTCCCTTAGGGGAAGCTATTGGGAGGGAAATGTGGGGTGGGTAGAAATGAGTGTCTGGGGTGACAGCCCTGCCTTGTCATTGGATATGTCCTCCTTCTGGGCCTCAGCCTTTCCATCTGCCGGATGAGAGGACTGTGGTGGGCAGTCTCTGAGCCTGTTCTAAAATCCCATTTGTTTATCTAACAGTTTTGTATTGAGCCAGGCATTGTTTTTAGGTGGTGCAGGAAGGAATAGACAAAAATGTCTACCCTCCTGATGCCTATAATCTAATGACACCAATCAGACTGGATTTCAGAAGTTAAATCTGCTCCCCTCAAATGCACCTGCAATTCAGTCAGAACCAACTTCGAGGTAGTGGCAGCTAATAGCTCTTAAGGGCTATGAGCCAGGCACTAAGCACTGGACGCTTCTTATTTGATTCAGTCCTCGCAAGAGATCTACGAAGTAGGTTTTCCTGATGAGGAAGCCTAGGCTGAGGTTGGCCCAAGCTGGGGTTGCACAGCTCAGAAGCAGTGGAGAGCGAGGCACTCACAGGCCTTCTGTCTCCAGACCCTCACGGTGACCCGAGTCTACACTGGCTCCTGGCCGAGAGCATTTCTTGCCCCTTCCCTTGGGCAAGTGCCCAGATGGAGGGCCACAGATGTCCCCCTCCACTTCAGTCACGGGGGCCCGGCGCCTTTTCCGCGGCACTGACCTCTCGCCTTCTCTCCCTGCAGGCTGTGCGAGGGCGTCGGCTCGGTGAATGTCTGTAAGTAGTGGGGTCCGTCC
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Task1_train_17853
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A variant has been detected on Chromosome 12 in KRT86 (keratin 86). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Beaded hair
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GAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACAATCCCAGGTTCTAAGGGGGGATGGAGAAGAACCAGGAGTAGCCCTTGGGCTTTTGGAGCACTGCTGGGGGACAGGAAAGGGTCAGGGTGTGAGAGCTGGGGGGTCAGTCTGGGCAGGCTTCCTGGAGCAGGAGAGGGGAGAAAGGAGAGATAAGAGGGTAAGGAGCAGTGAAAGGCTGGTGAGCCGTGCCCAAGACAAACAGGGTTTGTCCTCAGAATGGCAGAGGATGCCAGGTCACCCCGGGAAGGGCCAGAAGGGAAGGAGAGGGCATGGGAATGAGACACTGGGGACTCCTTTCCCCAGGCTTCATGGAATGGGTGGGAAGAGAGAGGAATCTAGAGGCTGGATCACCAGGGTCCTTGAGCTCCAACACTCCCCACCTTTCCAGGATGTGGACTGCGCCTACCTCCGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAGGTGCGGGCTCAGGGGCCAGGCAGAGACCTGGCAGCCAGCAGAGAGGAGAGATGGGGGTGGGAGTGTTGGACAGGATGTGGGTAGAGGTTGCAGTCCCTGAGGCTGTGTGAGGGGGCAGGGTTGGGGACCAGAGAAAGCCTGAGGAGGTGGAGTCAGGACATGGTGGGTGGGGCTGTGTTCTCAACTAAAGTCACTGCCCTCACCTCCTGCAGGAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCACAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAGGTGAGTGGCACAGGACACCTGCCTGCTAGACATGGCAGTGGGAGGGATTTGAGATTATCTATTAAATAGGCTTCCTTTTCTGGGGATGCACTAGGGATGAGAAGAGATGGCTGCCACTCTGATGTTGGGGTGGTAGGGCAGGACTGCCATGTGTGGTTGCACAGGCTGAGCACTGCACAACCTGCAAAATCATCTGTCATGCCCTGAATGGGTGGGAGGTCCCACCCTGAACCTCATGAGCATCTCTACTTCCCCCAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAGTGCCAGGTATGGGGCATCTGTGCCCAAGGTCAGAGAGACCGAGGGTCTAACCATGGTCACACAGCCTATGTGTGCCCTATCTGGATCTCAGCATTCATTCTCCAGCCCCTCTGTCCATGTAGAGTCCCTGGTTGTGGTCTCTGTGAGTCCCAGGTGATGAAGGCAAGAGGCTCTGTTCTGGGGTGCTCCCAGCTTGGTGGGGAGCATGGTCTCATCGAGGTAAGCATCAGAGAGACCCAGGGACTCTAATCTACCTTGTTCTCTCTGTTCTCTTCAGAATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCCATAGACCTTTCCCTTTCCCAGCCCTGCCAGGGTTCTCAGTGTGCTCTGTCCTCACACTCCTGGCAGCATTTAAGTTTTGTTTCTTAACCTCCCCACCCTGCAACCAGACAGGTAATTTGTGTAAGTCCTTTAAGTATGATCTAGCCCCGTTTGAGTCTCTCATGTTCACCCAGGCACTGATCTGAGATTGCAGTCTTGTTCATCTCAGTTGAGATCCAGTAATCTGGCAGCAGGTATTCCTGTTACTGAGAAGCCTAATTAAGGCTTGGGGTCAGCTTGCCTGGGTAGTGCTTCTTCCCTTCCAGCTGTAGCTGCATGTGCTTCTCAGGATTCCTTCTCTTTTTCCTAGTCTGGCCCTGGCCCCATCTAGACCTGGGAGTTCAGATGTATCCCATAAGGACAGCTTCAGATAGATGACACTATCAACTCATGCTTTTCTATTATAGTGCCAATGAGCATCCCAAAGTGGTATTCCATTGTGGCAGGTGGGAATGAGTTAGGCAGAGAGCAAGGACTTATCCCTTGGGGCAGTTATGCCTTGCTTTCAGGATTTTTGCTTGTTTGCTTGCTTCAGAGGTGGGGGGAGTGGAGAAGACCCATTGGTCACTCAGCCTTCCTATGGCTGGAGGCCAGCGATACAGCTGGAGGGCAGCTATACAGCTCCTGCTCCCAGAAGGACAACACTCCCAGAATGTGAGCTCATTCTTTGCCCTTGGTTTCTTTCCCCTAGTTGGTCAGTTGGTCTCACTCGAAGCTCCTTTTTTTTTGTGGACAGTCAGGCCCTTGGCCCTGGGGAGAGGAGGGTGAAGGTTGGGGATGCAGAGGGAGCATCTTGTTTATTTGGGAAATGGGGAACACAGGTTTGGGACCTAGAAACTAAAGTGACCATATGACGAGATTTCCACCAAACTCGAGTTGTTCCATTGGAAAGCTCAGAGGCAGGGGTCTGTCTGGCTGGGCCTGGGGAATTTCATAAGTGAAGAATTCTGGGAGGAGGAGTTTTCCAAGTCTGAATTTGGAAGTTGGAGAAACACATGGAGATGGCATTGGAATCTGAGTGGCCCACTCCTCCATCACACGGGGCTCTTGGAGTGAACTCAGGAGCTTTGGTATGTGTTACCTAGGGAACCTGGGCATGGAATGATTTGATGGTGGCCATGGCTTCTCTTATCTGAAGCTGATTTAACCAATCCTTGGCCAGTGTGCTTTCAGGGGAACTCCATTTTCTTCCCTTAGGGGAAGCTATTGGGAGGGAAATGTGGGGTGGGTAGAAATGAGTGTCTGGGGTGACAGCCCTGCCTTGTCATTGGATATGTCCTCCTTCTGGGCCTCAGCCTTTCCATCTGCCGGATGAGAGGACTGTGGTGGGCAGTCTCTGAGCCTGTTCTAAAATCCCATTTGTTTATCTAACAGTTTTGTATTGAGCCAGGCATTGTTTTTAGGTGGTGCAGGAAGGAATAGACAAAAATGTCTACCCTCCTGATGCCTATAATCTAATGACACCAATCAGACTGGATTTCAGAAGTTAAATCTGCTCCCCTCAAATGCACCTGCAATTCAGTCAGAACCAACTTCGAGGTAGTGGCAGCTAATAGCTCTTAAGGGCTATGAGCCAGGCACTAAGCACTGGACGCTTCTTATTTGATTCAGTCCTCGCAAGAGATCTACGAAGTAGGTTTTCCTGATGAGGAAGCCTAGGCTGAGGTTGGCCCAAGCTGGGGTTGCACAGCTCAGAAGCAGTGGAGAGCGAGGCACTCACAGGCCTTCTGTCTCCAGACCCTCACGGTGACCCGAGTCTACACTGGCTCCTGGCCGAGAGCATTTCTTGCCCCTTCCCTTGGGCAAGTGCCCAGATGGAGGGCCACAGATGTCCCCCTCCACTTCAGTCACGGGGGCCCGGCGCCTTTTCCGCGGCACTGACCTCTCGCCTTCTCTCCCTGCAGGCTGTGCGAGGGCGTCGGCTCGGTGAATGTCTGTAAGTAGTGGGGTCCGTCC
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GAGAAGCACAGATCTGTGGGATCTCAGAATGACAGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACAATCCCAGGTTCTAAGGGGGGATGGAGAAGAACCAGGAGTAGCCCTTGGGCTTTTGGAGCACTGCTGGGGGACAGGAAAGGGTCAGGGTGTGAGAGCTGGGGGGTCAGTCTGGGCAGGCTTCCTGGAGCAGGAGAGGGGAGAAAGGAGAGATAAGAGGGTAAGGAGCAGTGAAAGGCTGGTGAGCCGTGCCCAAGACAAACAGGGTTTGTCCTCAGAATGGCAGAGGATGCCAGGTCACCCCGGGAAGGGCCAGAAGGGAAGGAGAGGGCATGGGAATGAGACACTGGGGACTCCTTTCCCCAGGCTTCATGGAATGGGTGGGAAGAGAGAGGAATCTAGAGGCTGGATCACCAGGGTCCTTGAGCTCCAACACTCCCCACCTTTCCAGGATGTGGACTGCGCCTACCTCCGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAGGTGCGGGCTCAGGGGCCAGGCAGAGACCTGGCAGCCAGCAGAGAGGAGAGATGGGGGTGGGAGTGTTGGACAGGATGTGGGTAGAGGTTGCAGTCCCTGAGGCTGTGTGAGGGGGCAGGGTTGGGGACCAGAGAAAGCCTGAGGAGGTGGAGTCAGGACATGGTGGGTGGGGCTGTGTTCTCAACTAAAGTCACTGCCCTCACCTCCTGCAGGAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCACAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAGGTGAGTGGCACAGGACACCTGCCTGCTAGACATGGCAGTGGGAGGGATTTGAGATTATCTATTAAATAGGCTTCCTTTTCTGGGGATGCACTAGGGATGAGAAGAGATGGCTGCCACTCTGATGTTGGGGTGGTAGGGCAGGACTGCCATGTGTGGTTGCACAGGCTGAGCACTGCACAACCTGCAAAATCATCTGTCATGCCCTGAATGGGTGGGAGGTCCCACCCTGAACCTCATGAGCATCTCTACTTCCCCCAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAGTGCCAGGTATGGGGCATCTGTGCCCAAGGTCAGAGAGACCGAGGGTCTAACCATGGTCACACAGCCTATGTGTGCCCTATCTGGATCTCAGCATTCATTCTCCAGCCCCTCTGTCCATGTAGAGTCCCTGGTTGTGGTCTCTGTGAGTCCCAGGTGATGAAGGCAAGAGGCTCTGTTCTGGGGTGCTCCCAGCTTGGTGGGGAGCATGGTCTCATCGAGGTAAGCATCAGAGAGACCCAGGGACTCTAATCTACCTTGTTCTCTCTGTTCTCTTCAGAATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCCAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCCATAGACCTTTCCCTTTCCCAGCCCTGCCAGGGTTCTCAGTGTGCTCTGTCCTCACACTCCTGGCAGCATTTAAGTTTTGTTTCTTAACCTCCCCACCCTGCAACCAGACAGGTAATTTGTGTAAGTCCTTTAAGTATGATCTAGCCCCGTTTGAGTCTCTCATGTTCACCCAGGCACTGATCTGAGATTGCAGTCTTGTTCATCTCAGTTGAGATCCAGTAATCTGGCAGCAGGTATTCCTGTTACTGAGAAGCCTAATTAAGGCTTGGGGTCAGCTTGCCTGGGTAGTGCTTCTTCCCTTCCAGCTGTAGCTGCATGTGCTTCTCAGGATTCCTTCTCTTTTTCCTAGTCTGGCCCTGGCCCCATCTAGACCTGGGAGTTCAGATGTATCCCATAAGGACAGCTTCAGATAGATGACACTATCAACTCATGCTTTTCTATTATAGTGCCAATGAGCATCCCAAAGTGGTATTCCATTGTGGCAGGTGGGAATGAGTTAGGCAGAGAGCAAGGACTTATCCCTTGGGGCAGTTATGCCTTGCTTTCAGGATTTTTGCTTGTTTGCTTGCTTCAGAGGTGGGGGGAGTGGAGAAGACCCATTGGTCACTCAGCCTTCCTATGGCTGGAGGCCAGCGATACAGCTGGAGGGCAGCTATACAGCTCCTGCTCCCAGAAGGACAACACTCCCAGAATGTGAGCTCATTCTTTGCCCTTGGTTTCTTTCCCCTAGTTGGTCAGTTGGTCTCACTCGAAGCTCCTTTTTTTTTGTGGACAGTCAGGCCCTTGGCCCTGGGGAGAGGAGGGTGAAGGTTGGGGATGCAGAGGGAGCATCTTGTTTATTTGGGAAATGGGGAACACAGGTTTGGGACCTAGAAACTAAAGTGACCATATGACGAGATTTCCACCAAACTCGAGTTGTTCCATTGGAAAGCTCAGAGGCAGGGGTCTGTCTGGCTGGGCCTGGGGAATTTCATAAGTGAAGAATTCTGGGAGGAGGAGTTTTCCAAGTCTGAATTTGGAAGTTGGAGAAACACATGGAGATGGCATTGGAATCTGAGTGGCCCACTCCTCCATCACACGGGGCTCTTGGAGTGAACTCAGGAGCTTTGGTATGTGTTACCTAGGGAACCTGGGCATGGAATGATTTGATGGTGGCCATGGCTTCTCTTATCTGAAGCTGATTTAACCAATCCTTGGCCAGTGTGCTTTCAGGGGAACTCCATTTTCTTCCCTTAGGGGAAGCTATTGGGAGGGAAATGTGGGGTGGGTAGAAATGAGTGTCTGGGGTGACAGCCCTGCCTTGTCATTGGATATGTCCTCCTTCTGGGCCTCAGCCTTTCCATCTGCCGGATGAGAGGACTGTGGTGGGCAGTCTCTGAGCCTGTTCTAAAATCCCATTTGTTTATCTAACAGTTTTGTATTGAGCCAGGCATTGTTTTTAGGTGGTGCAGGAAGGAATAGACAAAAATGTCTACCCTCCTGATGCCTATAATCTAATGACACCAATCAGACTGGATTTCAGAAGTTAAATCTGCTCCCCTCAAATGCACCTGCAATTCAGTCAGAACCAACTTCGAGGTAGTGGCAGCTAATAGCTCTTAAGGGCTATGAGCCAGGCACTAAGCACTGGACGCTTCTTATTTGATTCAGTCCTCGCAAGAGATCTACGAAGTAGGTTTTCCTGATGAGGAAGCCTAGGCTGAGGTTGGCCCAAGCTGGGGTTGCACAGCTCAGAAGCAGTGGAGAGCGAGGCACTCACAGGCCTTCTGTCTCCAGACCCTCACGGTGACCCGAGTCTACACTGGCTCCTGGCCGAGAGCATTTCTTGCCCCTTCCCTTGGGCAAGTGCCCAGATGGAGGGCCACAGATGTCCCCCTCCACTTCAGTCACGGGGGCCCGGCGCCTTTTCCGCGGCACTGACCTCTCGCCTTCTCTCCCTGCAGGCTGTGCGAGGGCGTCGGCTCGGTGAATGTCTGTAAGTAGTGGGGTCCGTCC
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Task1_train_17854
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The following genetic variant occurs in KRT86 (keratin 86) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not provided
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AGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACAATCCCAGGTTCTAAGGGGGGATGGAGAAGAACCAGGAGTAGCCCTTGGGCTTTTGGAGCACTGCTGGGGGACAGGAAAGGGTCAGGGTGTGAGAGCTGGGGGGTCAGTCTGGGCAGGCTTCCTGGAGCAGGAGAGGGGAGAAAGGAGAGATAAGAGGGTAAGGAGCAGTGAAAGGCTGGTGAGCCGTGCCCAAGACAAACAGGGTTTGTCCTCAGAATGGCAGAGGATGCCAGGTCACCCCGGGAAGGGCCAGAAGGGAAGGAGAGGGCATGGGAATGAGACACTGGGGACTCCTTTCCCCAGGCTTCATGGAATGGGTGGGAAGAGAGAGGAATCTAGAGGCTGGATCACCAGGGTCCTTGAGCTCCAACACTCCCCACCTTTCCAGGATGTGGACTGCGCCTACCTCCGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAGGTGCGGGCTCAGGGGCCAGGCAGAGACCTGGCAGCCAGCAGAGAGGAGAGATGGGGGTGGGAGTGTTGGACAGGATGTGGGTAGAGGTTGCAGTCCCTGAGGCTGTGTGAGGGGGCAGGGTTGGGGACCAGAGAAAGCCTGAGGAGGTGGAGTCAGGACATGGTGGGTGGGGCTGTGTTCTCAACTAAAGTCACTGCCCTCACCTCCTGCAGGAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCACAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAGGTGAGTGGCACAGGACACCTGCCTGCTAGACATGGCAGTGGGAGGGATTTGAGATTATCTATTAAATAGGCTTCCTTTTCTGGGGATGCACTAGGGATGAGAAGAGATGGCTGCCACTCTGATGTTGGGGTGGTAGGGCAGGACTGCCATGTGTGGTTGCACAGGCTGAGCACTGCACAACCTGCAAAATCATCTGTCATGCCCTGAATGGGTGGGAGGTCCCACCCTGAACCTCATGAGCATCTCTACTTCCCCCAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAGTGCCAGGTATGGGGCATCTGTGCCCAAGGTCAGAGAGACCGAGGGTCTAACCATGGTCACACAGCCTATGTGTGCCCTATCTGGATCTCAGCATTCATTCTCCAGCCCCTCTGTCCATGTAGAGTCCCTGGTTGTGGTCTCTGTGAGTCCCAGGTGATGAAGGCAAGAGGCTCTGTTCTGGGGTGCTCCCAGCTTGGTGGGGAGCATGGTCTCATCGAGGTAAGCATCAGAGAGACCCAGGGACTCTAATCTACCTTGTTCTCTCTGTTCTCTTCAGAATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCCATAGACCTTTCCCTTTCCCAGCCCTGCCAGGGTTCTCAGTGTGCTCTGTCCTCACACTCCTGGCAGCATTTAAGTTTTGTTTCTTAACCTCCCCACCCTGCAACCAGACAGGTAATTTGTGTAAGTCCTTTAAGTATGATCTAGCCCCGTTTGAGTCTCTCATGTTCACCCAGGCACTGATCTGAGATTGCAGTCTTGTTCATCTCAGTTGAGATCCAGTAATCTGGCAGCAGGTATTCCTGTTACTGAGAAGCCTAATTAAGGCTTGGGGTCAGCTTGCCTGGGTAGTGCTTCTTCCCTTCCAGCTGTAGCTGCATGTGCTTCTCAGGATTCCTTCTCTTTTTCCTAGTCTGGCCCTGGCCCCATCTAGACCTGGGAGTTCAGATGTATCCCATAAGGACAGCTTCAGATAGATGACACTATCAACTCATGCTTTTCTATTATAGTGCCAATGAGCATCCCAAAGTGGTATTCCATTGTGGCAGGTGGGAATGAGTTAGGCAGAGAGCAAGGACTTATCCCTTGGGGCAGTTATGCCTTGCTTTCAGGATTTTTGCTTGTTTGCTTGCTTCAGAGGTGGGGGGAGTGGAGAAGACCCATTGGTCACTCAGCCTTCCTATGGCTGGAGGCCAGCGATACAGCTGGAGGGCAGCTATACAGCTCCTGCTCCCAGAAGGACAACACTCCCAGAATGTGAGCTCATTCTTTGCCCTTGGTTTCTTTCCCCTAGTTGGTCAGTTGGTCTCACTCGAAGCTCCTTTTTTTTTGTGGACAGTCAGGCCCTTGGCCCTGGGGAGAGGAGGGTGAAGGTTGGGGATGCAGAGGGAGCATCTTGTTTATTTGGGAAATGGGGAACACAGGTTTGGGACCTAGAAACTAAAGTGACCATATGACGAGATTTCCACCAAACTCGAGTTGTTCCATTGGAAAGCTCAGAGGCAGGGGTCTGTCTGGCTGGGCCTGGGGAATTTCATAAGTGAAGAATTCTGGGAGGAGGAGTTTTCCAAGTCTGAATTTGGAAGTTGGAGAAACACATGGAGATGGCATTGGAATCTGAGTGGCCCACTCCTCCATCACACGGGGCTCTTGGAGTGAACTCAGGAGCTTTGGTATGTGTTACCTAGGGAACCTGGGCATGGAATGATTTGATGGTGGCCATGGCTTCTCTTATCTGAAGCTGATTTAACCAATCCTTGGCCAGTGTGCTTTCAGGGGAACTCCATTTTCTTCCCTTAGGGGAAGCTATTGGGAGGGAAATGTGGGGTGGGTAGAAATGAGTGTCTGGGGTGACAGCCCTGCCTTGTCATTGGATATGTCCTCCTTCTGGGCCTCAGCCTTTCCATCTGCCGGATGAGAGGACTGTGGTGGGCAGTCTCTGAGCCTGTTCTAAAATCCCATTTGTTTATCTAACAGTTTTGTATTGAGCCAGGCATTGTTTTTAGGTGGTGCAGGAAGGAATAGACAAAAATGTCTACCCTCCTGATGCCTATAATCTAATGACACCAATCAGACTGGATTTCAGAAGTTAAATCTGCTCCCCTCAAATGCACCTGCAATTCAGTCAGAACCAACTTCGAGGTAGTGGCAGCTAATAGCTCTTAAGGGCTATGAGCCAGGCACTAAGCACTGGACGCTTCTTATTTGATTCAGTCCTCGCAAGAGATCTACGAAGTAGGTTTTCCTGATGAGGAAGCCTAGGCTGAGGTTGGCCCAAGCTGGGGTTGCACAGCTCAGAAGCAGTGGAGAGCGAGGCACTCACAGGCCTTCTGTCTCCAGACCCTCACGGTGACCCGAGTCTACACTGGCTCCTGGCCGAGAGCATTTCTTGCCCCTTCCCTTGGGCAAGTGCCCAGATGGAGGGCCACAGATGTCCCCCTCCACTTCAGTCACGGGGGCCCGGCGCCTTTTCCGCGGCACTGACCTCTCGCCTTCTCTCCCTGCAGGCTGTGCGAGGGCGTCGGCTCGGTGAATGTCTGTAAGTAGTGGGGTCCGTCCCCTCCTCCCGCTGGGCGGGTCTGGGAGCCTCTG
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AGATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACAATCCCAGGTTCTAAGGGGGGATGGAGAAGAACCAGGAGTAGCCCTTGGGCTTTTGGAGCACTGCTGGGGGACAGGAAAGGGTCAGGGTGTGAGAGCTGGGGGGTCAGTCTGGGCAGGCTTCCTGGAGCAGGAGAGGGGAGAAAGGAGAGATAAGAGGGTAAGGAGCAGTGAAAGGCTGGTGAGCCGTGCCCAAGACAAACAGGGTTTGTCCTCAGAATGGCAGAGGATGCCAGGTCACCCCGGGAAGGGCCAGAAGGGAAGGAGAGGGCATGGGAATGAGACACTGGGGACTCCTTTCCCCAGGCTTCATGGAATGGGTGGGAAGAGAGAGGAATCTAGAGGCTGGATCACCAGGGTCCTTGAGCTCCAACACTCCCCACCTTTCCAGGATGTGGACTGCGCCTACCTCCGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAGGTGCGGGCTCAGGGGCCAGGCAGAGACCTGGCAGCCAGCAGAGAGGAGAGATGGGGGTGGGAGTGTTGGACAGGATGTGGGTAGAGGTTGCAGTCCCTGAGGCTGTGTGAGGGGGCAGGGTTGGGGACCAGAGAAAGCCTGAGGAGGTGGAGTCAGGACATGGTGGGTGGGGCTGTGTTCTCAACTAAAGTCACTGCCCTCACCTCCTGCAGGAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCACAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAGGTGAGTGGCACAGGACACCTGCCTGCTAGACATGGCAGTGGGAGGGATTTGAGATTATCTATTAAATAGGCTTCCTTTTCTGGGGATGCACTAGGGATGAGAAGAGATGGCTGCCACTCTGATGTTGGGGTGGTAGGGCAGGACTGCCATGTGTGGTTGCACAGGCTGAGCACTGCACAACCTGCAAAATCATCTGTCATGCCCTGAATGGGTGGGAGGTCCCACCCTGAACCTCATGAGCATCTCTACTTCCCCCAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAGTGCCAGGTATGGGGCATCTGTGCCCAAGGTCAGAGAGACCGAGGGTCTAACCATGGTCACACAGCCTATGTGTGCCCTATCTGGATCTCAGCATTCATTCTCCAGCCCCTCTGTCCATGTAGAGTCCCTGGTTGTGGTCTCTGTGAGTCCCAGGTGATGAAGGCAAGAGGCTCTGTTCTGGGGTGCTCCCAGCTTGGTGGGGAGCATGGTCTCATCGAGGTAAGCATCAGAGAGACCCAGGGACTCTAATCTACCTTGTTCTCTCTGTTCTCTTCAGAATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCAAGGAGCAGAGGTGGGTCCCATAGACCTTTCCCTTTCCCAGCCCTGCCAGGGTTCTCAGTGTGCTCTGTCCTCACACTCCTGGCAGCATTTAAGTTTTGTTTCTTAACCTCCCCACCCTGCAACCAGACAGGTAATTTGTGTAAGTCCTTTAAGTATGATCTAGCCCCGTTTGAGTCTCTCATGTTCACCCAGGCACTGATCTGAGATTGCAGTCTTGTTCATCTCAGTTGAGATCCAGTAATCTGGCAGCAGGTATTCCTGTTACTGAGAAGCCTAATTAAGGCTTGGGGTCAGCTTGCCTGGGTAGTGCTTCTTCCCTTCCAGCTGTAGCTGCATGTGCTTCTCAGGATTCCTTCTCTTTTTCCTAGTCTGGCCCTGGCCCCATCTAGACCTGGGAGTTCAGATGTATCCCATAAGGACAGCTTCAGATAGATGACACTATCAACTCATGCTTTTCTATTATAGTGCCAATGAGCATCCCAAAGTGGTATTCCATTGTGGCAGGTGGGAATGAGTTAGGCAGAGAGCAAGGACTTATCCCTTGGGGCAGTTATGCCTTGCTTTCAGGATTTTTGCTTGTTTGCTTGCTTCAGAGGTGGGGGGAGTGGAGAAGACCCATTGGTCACTCAGCCTTCCTATGGCTGGAGGCCAGCGATACAGCTGGAGGGCAGCTATACAGCTCCTGCTCCCAGAAGGACAACACTCCCAGAATGTGAGCTCATTCTTTGCCCTTGGTTTCTTTCCCCTAGTTGGTCAGTTGGTCTCACTCGAAGCTCCTTTTTTTTTGTGGACAGTCAGGCCCTTGGCCCTGGGGAGAGGAGGGTGAAGGTTGGGGATGCAGAGGGAGCATCTTGTTTATTTGGGAAATGGGGAACACAGGTTTGGGACCTAGAAACTAAAGTGACCATATGACGAGATTTCCACCAAACTCGAGTTGTTCCATTGGAAAGCTCAGAGGCAGGGGTCTGTCTGGCTGGGCCTGGGGAATTTCATAAGTGAAGAATTCTGGGAGGAGGAGTTTTCCAAGTCTGAATTTGGAAGTTGGAGAAACACATGGAGATGGCATTGGAATCTGAGTGGCCCACTCCTCCATCACACGGGGCTCTTGGAGTGAACTCAGGAGCTTTGGTATGTGTTACCTAGGGAACCTGGGCATGGAATGATTTGATGGTGGCCATGGCTTCTCTTATCTGAAGCTGATTTAACCAATCCTTGGCCAGTGTGCTTTCAGGGGAACTCCATTTTCTTCCCTTAGGGGAAGCTATTGGGAGGGAAATGTGGGGTGGGTAGAAATGAGTGTCTGGGGTGACAGCCCTGCCTTGTCATTGGATATGTCCTCCTTCTGGGCCTCAGCCTTTCCATCTGCCGGATGAGAGGACTGTGGTGGGCAGTCTCTGAGCCTGTTCTAAAATCCCATTTGTTTATCTAACAGTTTTGTATTGAGCCAGGCATTGTTTTTAGGTGGTGCAGGAAGGAATAGACAAAAATGTCTACCCTCCTGATGCCTATAATCTAATGACACCAATCAGACTGGATTTCAGAAGTTAAATCTGCTCCCCTCAAATGCACCTGCAATTCAGTCAGAACCAACTTCGAGGTAGTGGCAGCTAATAGCTCTTAAGGGCTATGAGCCAGGCACTAAGCACTGGACGCTTCTTATTTGATTCAGTCCTCGCAAGAGATCTACGAAGTAGGTTTTCCTGATGAGGAAGCCTAGGCTGAGGTTGGCCCAAGCTGGGGTTGCACAGCTCAGAAGCAGTGGAGAGCGAGGCACTCACAGGCCTTCTGTCTCCAGACCCTCACGGTGACCCGAGTCTACACTGGCTCCTGGCCGAGAGCATTTCTTGCCCCTTCCCTTGGGCAAGTGCCCAGATGGAGGGCCACAGATGTCCCCCTCCACTTCAGTCACGGGGGCCCGGCGCCTTTTCCGCGGCACTGACCTCTCGCCTTCTCTCCCTGCAGGCTGTGCGAGGGCGTCGGCTCGGTGAATGTCTGTAAGTAGTGGGGTCCGTCCCCTCCTCCCGCTGGGCGGGTCTGGGAGCCTCTG
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Task1_train_17855
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This genomic variant is located on Chromosome 12, within the KRT86 (keratin 86) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Beaded hair
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ATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACAATCCCAGGTTCTAAGGGGGGATGGAGAAGAACCAGGAGTAGCCCTTGGGCTTTTGGAGCACTGCTGGGGGACAGGAAAGGGTCAGGGTGTGAGAGCTGGGGGGTCAGTCTGGGCAGGCTTCCTGGAGCAGGAGAGGGGAGAAAGGAGAGATAAGAGGGTAAGGAGCAGTGAAAGGCTGGTGAGCCGTGCCCAAGACAAACAGGGTTTGTCCTCAGAATGGCAGAGGATGCCAGGTCACCCCGGGAAGGGCCAGAAGGGAAGGAGAGGGCATGGGAATGAGACACTGGGGACTCCTTTCCCCAGGCTTCATGGAATGGGTGGGAAGAGAGAGGAATCTAGAGGCTGGATCACCAGGGTCCTTGAGCTCCAACACTCCCCACCTTTCCAGGATGTGGACTGCGCCTACCTCCGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAGGTGCGGGCTCAGGGGCCAGGCAGAGACCTGGCAGCCAGCAGAGAGGAGAGATGGGGGTGGGAGTGTTGGACAGGATGTGGGTAGAGGTTGCAGTCCCTGAGGCTGTGTGAGGGGGCAGGGTTGGGGACCAGAGAAAGCCTGAGGAGGTGGAGTCAGGACATGGTGGGTGGGGCTGTGTTCTCAACTAAAGTCACTGCCCTCACCTCCTGCAGGAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCACAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAGGTGAGTGGCACAGGACACCTGCCTGCTAGACATGGCAGTGGGAGGGATTTGAGATTATCTATTAAATAGGCTTCCTTTTCTGGGGATGCACTAGGGATGAGAAGAGATGGCTGCCACTCTGATGTTGGGGTGGTAGGGCAGGACTGCCATGTGTGGTTGCACAGGCTGAGCACTGCACAACCTGCAAAATCATCTGTCATGCCCTGAATGGGTGGGAGGTCCCACCCTGAACCTCATGAGCATCTCTACTTCCCCCAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAGTGCCAGGTATGGGGCATCTGTGCCCAAGGTCAGAGAGACCGAGGGTCTAACCATGGTCACACAGCCTATGTGTGCCCTATCTGGATCTCAGCATTCATTCTCCAGCCCCTCTGTCCATGTAGAGTCCCTGGTTGTGGTCTCTGTGAGTCCCAGGTGATGAAGGCAAGAGGCTCTGTTCTGGGGTGCTCCCAGCTTGGTGGGGAGCATGGTCTCATCGAGGTAAGCATCAGAGAGACCCAGGGACTCTAATCTACCTTGTTCTCTCTGTTCTCTTCAGAATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCCATAGACCTTTCCCTTTCCCAGCCCTGCCAGGGTTCTCAGTGTGCTCTGTCCTCACACTCCTGGCAGCATTTAAGTTTTGTTTCTTAACCTCCCCACCCTGCAACCAGACAGGTAATTTGTGTAAGTCCTTTAAGTATGATCTAGCCCCGTTTGAGTCTCTCATGTTCACCCAGGCACTGATCTGAGATTGCAGTCTTGTTCATCTCAGTTGAGATCCAGTAATCTGGCAGCAGGTATTCCTGTTACTGAGAAGCCTAATTAAGGCTTGGGGTCAGCTTGCCTGGGTAGTGCTTCTTCCCTTCCAGCTGTAGCTGCATGTGCTTCTCAGGATTCCTTCTCTTTTTCCTAGTCTGGCCCTGGCCCCATCTAGACCTGGGAGTTCAGATGTATCCCATAAGGACAGCTTCAGATAGATGACACTATCAACTCATGCTTTTCTATTATAGTGCCAATGAGCATCCCAAAGTGGTATTCCATTGTGGCAGGTGGGAATGAGTTAGGCAGAGAGCAAGGACTTATCCCTTGGGGCAGTTATGCCTTGCTTTCAGGATTTTTGCTTGTTTGCTTGCTTCAGAGGTGGGGGGAGTGGAGAAGACCCATTGGTCACTCAGCCTTCCTATGGCTGGAGGCCAGCGATACAGCTGGAGGGCAGCTATACAGCTCCTGCTCCCAGAAGGACAACACTCCCAGAATGTGAGCTCATTCTTTGCCCTTGGTTTCTTTCCCCTAGTTGGTCAGTTGGTCTCACTCGAAGCTCCTTTTTTTTTGTGGACAGTCAGGCCCTTGGCCCTGGGGAGAGGAGGGTGAAGGTTGGGGATGCAGAGGGAGCATCTTGTTTATTTGGGAAATGGGGAACACAGGTTTGGGACCTAGAAACTAAAGTGACCATATGACGAGATTTCCACCAAACTCGAGTTGTTCCATTGGAAAGCTCAGAGGCAGGGGTCTGTCTGGCTGGGCCTGGGGAATTTCATAAGTGAAGAATTCTGGGAGGAGGAGTTTTCCAAGTCTGAATTTGGAAGTTGGAGAAACACATGGAGATGGCATTGGAATCTGAGTGGCCCACTCCTCCATCACACGGGGCTCTTGGAGTGAACTCAGGAGCTTTGGTATGTGTTACCTAGGGAACCTGGGCATGGAATGATTTGATGGTGGCCATGGCTTCTCTTATCTGAAGCTGATTTAACCAATCCTTGGCCAGTGTGCTTTCAGGGGAACTCCATTTTCTTCCCTTAGGGGAAGCTATTGGGAGGGAAATGTGGGGTGGGTAGAAATGAGTGTCTGGGGTGACAGCCCTGCCTTGTCATTGGATATGTCCTCCTTCTGGGCCTCAGCCTTTCCATCTGCCGGATGAGAGGACTGTGGTGGGCAGTCTCTGAGCCTGTTCTAAAATCCCATTTGTTTATCTAACAGTTTTGTATTGAGCCAGGCATTGTTTTTAGGTGGTGCAGGAAGGAATAGACAAAAATGTCTACCCTCCTGATGCCTATAATCTAATGACACCAATCAGACTGGATTTCAGAAGTTAAATCTGCTCCCCTCAAATGCACCTGCAATTCAGTCAGAACCAACTTCGAGGTAGTGGCAGCTAATAGCTCTTAAGGGCTATGAGCCAGGCACTAAGCACTGGACGCTTCTTATTTGATTCAGTCCTCGCAAGAGATCTACGAAGTAGGTTTTCCTGATGAGGAAGCCTAGGCTGAGGTTGGCCCAAGCTGGGGTTGCACAGCTCAGAAGCAGTGGAGAGCGAGGCACTCACAGGCCTTCTGTCTCCAGACCCTCACGGTGACCCGAGTCTACACTGGCTCCTGGCCGAGAGCATTTCTTGCCCCTTCCCTTGGGCAAGTGCCCAGATGGAGGGCCACAGATGTCCCCCTCCACTTCAGTCACGGGGGCCCGGCGCCTTTTCCGCGGCACTGACCTCTCGCCTTCTCTCCCTGCAGGCTGTGCGAGGGCGTCGGCTCGGTGAATGTCTGTAAGTAGTGGGGTCCGTCCCCTCCTCCCGCTGGGCGGGTCTGGGAGCCTCTGGG
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ATTCTTCCTGGGGACACACAGGGGGTCTCAACCTCAGCGTGGGGCACAATGACCTTTCCACAGCAGGCTAGGACTGCCCAGATGCAGGCCTTTGTATTGAGCATCCAGGGCCTTGACAAAGGGCAATGACTTGGGAATATCTACCAGCACCTACCTTGGGCAAGGGGATGGCTGCACTGTCCTCTGTGTGTCCTGCTCTGTTCCAGAGGTTGTGGTCTATTGCTGAGGCCCCTGGAGCCATAGCAGATACAATGTCTCTGCTGAGAGACAGTGCAGTCTGTCTAGCATTTTGGGGAGTCTGACCTTGAGGCAGAGACACAATCCCAGGTTCTAAGGGGGGATGGAGAAGAACCAGGAGTAGCCCTTGGGCTTTTGGAGCACTGCTGGGGGACAGGAAAGGGTCAGGGTGTGAGAGCTGGGGGGTCAGTCTGGGCAGGCTTCCTGGAGCAGGAGAGGGGAGAAAGGAGAGATAAGAGGGTAAGGAGCAGTGAAAGGCTGGTGAGCCGTGCCCAAGACAAACAGGGTTTGTCCTCAGAATGGCAGAGGATGCCAGGTCACCCCGGGAAGGGCCAGAAGGGAAGGAGAGGGCATGGGAATGAGACACTGGGGACTCCTTTCCCCAGGCTTCATGGAATGGGTGGGAAGAGAGAGGAATCTAGAGGCTGGATCACCAGGGTCCTTGAGCTCCAACACTCCCCACCTTTCCAGGATGTGGACTGCGCCTACCTCCGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAGGTGCGGGCTCAGGGGCCAGGCAGAGACCTGGCAGCCAGCAGAGAGGAGAGATGGGGGTGGGAGTGTTGGACAGGATGTGGGTAGAGGTTGCAGTCCCTGAGGCTGTGTGAGGGGGCAGGGTTGGGGACCAGAGAAAGCCTGAGGAGGTGGAGTCAGGACATGGTGGGTGGGGCTGTGTTCTCAACTAAAGTCACTGCCCTCACCTCCTGCAGGAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCACAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAGGTGAGTGGCACAGGACACCTGCCTGCTAGACATGGCAGTGGGAGGGATTTGAGATTATCTATTAAATAGGCTTCCTTTTCTGGGGATGCACTAGGGATGAGAAGAGATGGCTGCCACTCTGATGTTGGGGTGGTAGGGCAGGACTGCCATGTGTGGTTGCACAGGCTGAGCACTGCACAACCTGCAAAATCATCTGTCATGCCCTGAATGGGTGGGAGGTCCCACCCTGAACCTCATGAGCATCTCTACTTCCCCCAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAGTGCCAGGTATGGGGCATCTGTGCCCAAGGTCAGAGAGACCGAGGGTCTAACCATGGTCACACAGCCTATGTGTGCCCTATCTGGATCTCAGCATTCATTCTCCAGCCCCTCTGTCCATGTAGAGTCCCTGGTTGTGGTCTCTGTGAGTCCCAGGTGATGAAGGCAAGAGGCTCTGTTCTGGGGTGCTCCCAGCTTGGTGGGGAGCATGGTCTCATCGAGGTAAGCATCAGAGAGACCCAGGGACTCTAATCTACCTTGTTCTCTCTGTTCTCTTCAGAATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGATGAGCAGAGGTGGGTCCCATAGACCTTTCCCTTTCCCAGCCCTGCCAGGGTTCTCAGTGTGCTCTGTCCTCACACTCCTGGCAGCATTTAAGTTTTGTTTCTTAACCTCCCCACCCTGCAACCAGACAGGTAATTTGTGTAAGTCCTTTAAGTATGATCTAGCCCCGTTTGAGTCTCTCATGTTCACCCAGGCACTGATCTGAGATTGCAGTCTTGTTCATCTCAGTTGAGATCCAGTAATCTGGCAGCAGGTATTCCTGTTACTGAGAAGCCTAATTAAGGCTTGGGGTCAGCTTGCCTGGGTAGTGCTTCTTCCCTTCCAGCTGTAGCTGCATGTGCTTCTCAGGATTCCTTCTCTTTTTCCTAGTCTGGCCCTGGCCCCATCTAGACCTGGGAGTTCAGATGTATCCCATAAGGACAGCTTCAGATAGATGACACTATCAACTCATGCTTTTCTATTATAGTGCCAATGAGCATCCCAAAGTGGTATTCCATTGTGGCAGGTGGGAATGAGTTAGGCAGAGAGCAAGGACTTATCCCTTGGGGCAGTTATGCCTTGCTTTCAGGATTTTTGCTTGTTTGCTTGCTTCAGAGGTGGGGGGAGTGGAGAAGACCCATTGGTCACTCAGCCTTCCTATGGCTGGAGGCCAGCGATACAGCTGGAGGGCAGCTATACAGCTCCTGCTCCCAGAAGGACAACACTCCCAGAATGTGAGCTCATTCTTTGCCCTTGGTTTCTTTCCCCTAGTTGGTCAGTTGGTCTCACTCGAAGCTCCTTTTTTTTTGTGGACAGTCAGGCCCTTGGCCCTGGGGAGAGGAGGGTGAAGGTTGGGGATGCAGAGGGAGCATCTTGTTTATTTGGGAAATGGGGAACACAGGTTTGGGACCTAGAAACTAAAGTGACCATATGACGAGATTTCCACCAAACTCGAGTTGTTCCATTGGAAAGCTCAGAGGCAGGGGTCTGTCTGGCTGGGCCTGGGGAATTTCATAAGTGAAGAATTCTGGGAGGAGGAGTTTTCCAAGTCTGAATTTGGAAGTTGGAGAAACACATGGAGATGGCATTGGAATCTGAGTGGCCCACTCCTCCATCACACGGGGCTCTTGGAGTGAACTCAGGAGCTTTGGTATGTGTTACCTAGGGAACCTGGGCATGGAATGATTTGATGGTGGCCATGGCTTCTCTTATCTGAAGCTGATTTAACCAATCCTTGGCCAGTGTGCTTTCAGGGGAACTCCATTTTCTTCCCTTAGGGGAAGCTATTGGGAGGGAAATGTGGGGTGGGTAGAAATGAGTGTCTGGGGTGACAGCCCTGCCTTGTCATTGGATATGTCCTCCTTCTGGGCCTCAGCCTTTCCATCTGCCGGATGAGAGGACTGTGGTGGGCAGTCTCTGAGCCTGTTCTAAAATCCCATTTGTTTATCTAACAGTTTTGTATTGAGCCAGGCATTGTTTTTAGGTGGTGCAGGAAGGAATAGACAAAAATGTCTACCCTCCTGATGCCTATAATCTAATGACACCAATCAGACTGGATTTCAGAAGTTAAATCTGCTCCCCTCAAATGCACCTGCAATTCAGTCAGAACCAACTTCGAGGTAGTGGCAGCTAATAGCTCTTAAGGGCTATGAGCCAGGCACTAAGCACTGGACGCTTCTTATTTGATTCAGTCCTCGCAAGAGATCTACGAAGTAGGTTTTCCTGATGAGGAAGCCTAGGCTGAGGTTGGCCCAAGCTGGGGTTGCACAGCTCAGAAGCAGTGGAGAGCGAGGCACTCACAGGCCTTCTGTCTCCAGACCCTCACGGTGACCCGAGTCTACACTGGCTCCTGGCCGAGAGCATTTCTTGCCCCTTCCCTTGGGCAAGTGCCCAGATGGAGGGCCACAGATGTCCCCCTCCACTTCAGTCACGGGGGCCCGGCGCCTTTTCCGCGGCACTGACCTCTCGCCTTCTCTCCCTGCAGGCTGTGCGAGGGCGTCGGCTCGGTGAATGTCTGTAAGTAGTGGGGTCCGTCCCCTCCTCCCGCTGGGCGGGTCTGGGAGCCTCTGGG
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Task1_train_17856
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A sequence alteration has been identified in KRT83 (keratin 83) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; MONILETHRIX 3
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GCTGCTGGCACTTTTGGTGGTTGTTGCTGTGGTACCTACGTGGAAGGATGGCTGGGGGGCAGAGTGAAGATATGCTAGGAAGAGAAAGTGGGGACCGTGTATGCAAGAAGGGGGCAAAACTCAAACACACACACAAGCACGCATACACGTGCACACATATAAACATGCGCATGCACATGCACTGCCTTCCGGCTGACTTCTGGCCTCCTCGGTCCCCTTCAGAGCCATCCAGACTGACAGGTGTGACAGGTAGAAGGTGCTGTGAGCACAGTCAGCACTGCCTGGCCAGGAGATGACAGAACCATCTGGGGACAAGGCCCTACGGGTGTCCAGGCGGAGAACAGGCCAGAACGACTCTAGTCTTCAGGCCATATCATCAGGCTGGGGTGCTCACCACTTGGTGGGTGTGGGGAACCCCAAGAAAGCAAGACATTGCAGCACACAAAGCAGGTCCCCAAGTTTATTGGAAAAGGGGAGACAAGAGGCCAGAGAGGCAGGGGGAACAGTCTCACAGTGCTTCTTCCAGGGAAGCAAGGCCCTTCTCCCCGGGAGGGGCTGAAGGCTGAGACAGGGGAAGGAATGGGTCTATTCCCCAGCCACAGGCCCCTTTCCAGTGGGATGAAAGGTGGGGAGGAGCCGCTGGTGGGAATGAGCCGATGGTGTATTCTCAGAACACAAGGGGAAAAGCCAGCGATGTGCTGCTGTTTTCAGCTGGTGGTGGGGCAGTGGCACGTCTGGCAGGCAGAAGGGGCTCCCCTGGCTCTCTTTTGGGCCACTTAATGCCTCCCCTGGCCGCAGGAGCCCCCTCCACAGGTGGTGTTCAGCTGGCCACAGGGCTTGCACAAACCAGTGCTCACCACCAGGTTCCCGTTGCAGGGGGCACTGCAGACGCTGCCCGTCACCGGCCGGGAGCCCGACACGCAGAGATCCCCGCACACAACCCCACCCCGGGAGCTGCTGACACCTGTGGGAACAAGGGCAGGGTCAAGAGACCCCTGCTGATGGCCATCCCATCCAGCCACCTTCCTTTGGTCTGTCTGATGTGTCGACCATCCAGGGAAGGATGCAAAGAGCCTCCAGTTCTATTCTGAAGGAGGGAACCCTAGCCTGGGAGCCAGCAGACCGGGGTTCTGGTCCTGGTTCTGCTTTGTGACTTTGGGAGTCCTTTCCTCTGTCTGGGCCTCAGCTTTCTCACCTATATAAGGTGAAGGTTATGAATGACATCTGAGGTCCCTTCTTGCAATGACATCTTATTATTTTTTCCCCTCCCCAACACATTCAGGCTGTGAGGTTCTTCCTGCGAGCTAACCTCAGTCTGTCTTGCTGCATGACCAACCTATCCTCTTTACTGGGGGAATTATTGGAAACACTCCTCCCAAAGTCTCTGCATATATTCATAGTCAAGAAGTCCTTTGTCCCCAGTCTACATTTTCCTTTTCAGGGCTCAAGATACTTACAGACATTCACAGCTTCAACACCTTCACACAGCCTGAGTGGGGAAAAAGTAAGGAAGGGGAAGATAAAAGAAGTCAGAATGAGGTCATCGAATTTCCGCTAGGTGCTGAAATGGGTCATCTCAGGGCTATTTCTGACCTACATTTATTCCCTTGTGCAGCTTAGAAAAAGTTGCCTTTCTGGCAGTTGAAGCAACGTCAGGTCACACTATTTAGCAAGTAGAGTATGGTTGGATTTCAATTCTTATTTGTCTCTCAGCTGTTATTTGCCTTTGTGCAGTGAACAACCTGAACAACCATATCTGTCAGGTCTAGATAGGCTCAACTTTCAGAAGGAGAAGGCCCTCTTGGGAAGACGAGGTCAGGGGTGGAGTTTGGCCAGCAACCCTGCCCTAGAATAGGTGATGTCCAAGAAACCAGGCAGGGTATGGATCTTGGAAGAGTTGAGAATGAGACAACTTGAAGATATGGATCTGGGATCCATAGAGGCAAGAATGTCACCTGGGGACTGAGACTGAGATAGGGAAAAATCAAAGGTGGGCAGGTCTATGCAAGTGGAGTGCTTAGGGCTGGGTTGGACCCACCTCTGCTCCTCGCCCTCCAGCAGGCGCCTGTAGGTGGCGATCTCGATATCCAGGCCTAGCTTGGAGTTCATCACCTCCTGGTACTCCCTGATCAGGCAGGCCATGTCTTGCTTGGCCTTCTGCAGGGCGCCCTCCAGCTCGGCCAGCTTGCAGCGGGCATCACTGAGGGCCGCCTCACCCTGCTGCTCAGACTGGGCCACCGCAGCTTCCAGCTTGGAGTTCTGGGAGGTAGGGGGAATATGGAGAGGATAAAGTGAAGTTTAGTTTCTTGAAATCCCAGCCAGTCTCCAATAGGATCATTCAACTTCTATCTTAAAATATTATCTCTCCAATCAGCTTCCTAACCTTCCTTCCCTCCTCACTTACACTACACACACACACACACACACACACCACACAGATACACACACACACCTTGGCCAAGACAATCAGAAATATTTCAGTAGATTTCTCATCTTACTCTGTCACCCATGAGACTGCACTGGGAAGACTTTTCCAGAATCTAACTCAAATCCCTCTGCCGAGGGCTAACCCCAGTCTCTTCCTACACTGAGGGGTGGGCCGGGCTCTGGTACCTGGCACTTGGCATTCTCCACCTCGGCTGTCAGCCTCTGGATCATGCGGTTCAGCTCGTTGATCTCCTCCTTGGTGCGGCGCAGGGTCTCCCCGTGCCTGATCACTGTGGCCTTCATCTCCTCACACTGCAGGAAGCAGAGATGTTCATGAGGCTCAGGATGAGACATCCCATTCATTCAGGACAGCTCAGATGATTGCACAGATTGTGCAGTGCTCGGCCTGTGCAACCACACGTGGCAGTCCTGCCCTGCCACCCCAACATGAGAGCTATTGGTTTTTCTCTTACCATCCTTAGGGATCAGAATCCCTAGACAAAGAAGCCTTTTCTACTAGATACCTCACATCCCTCCCACTGCCATGTCTAGCAGGCAGGTGTCCTGTGCCGCTCACCTTGCTGCGATACCAGGACTCGGCCTCAGCCCGGCTACGGGTGGCAATGTCATCATACTGTGCCTTGATCTCGGCAACGATGCAGTCCATGTTCAGGTCCCGGCTGTTGTCCAGCTTGACAACCACGGAGGTGTCTGAGATGTGGGATTGGAGAATGCGGATCTCCTGCAGGAGGTGGGGAAAGGAAGGACAACTCACTTATCTGGGCTTCTCCTAATCCCTGGATGCCTATCATCCTTTTGGCTCATCGGGAGTGAACTTCTCATGTTTAGAGAAACAAACCTGATGAAATCACATAACTTTCTGCACAAATAGGAAATCCCTTTAGAGGAAAACACAACCACTTCTCAACTGCTTGCTTTTGGAATTATTCAGGCCCATGTGCAGCCAGCATGGTCCAGATGCTTTCCAGGGGCTCAGACCCTGTATGGGGGGCCTCTTTCCATTCTCCTAGACCAACCCCATGTAGGAAGGCTATTGCTGCCAGAGAAAGCCCTGGGCCAGAGCAATGGGTTCAATTCTGTTTGATGCTGTGTGGGGTCTATGCTGCAGTCCACTGGCTCAGGGGAAGGATGCAGGGCAGGTTCCCAAGGCACAGGTGTCTGGGGTGCTCACTCTCCTGCCCCTTACTAAATTTGTTCCTTTTTGGCTTTCCATCCGTTTGCCTCCCTGTTCCTTCCCTCTCCTTGCTCCCTGCCAACCCTCCAGCCGTGAGCCTGGGTTCATATGTCAGCAGGCCTGGTTCATGCCTGTGGGTGTCTGGGCAGAGGGTCAGGGATCCCATGGGGGGATCTGTGCCCACCATGGTTGAGAGCCCCTCACCTCCTCGTACAGCCGCCTCAGGAAGTCAATCTCCTGGATCAGGGCCTCCACGTTGGCCTCCAGGTCTGACTTGCGGAGGTAGGCGCAGTCCACATCCTGGGTGGGGTAGAAGGGGCTGTGAGGCCGGCTTTCCTCAGAGGGCTCTGAGGACCTGGCTGCCATGTGGCAGGACAAAGAGGATGGGTGGCGGGACTCAGGGCGGGCTCAGGGCCAGCTGGGCTTCACTCACCTTCTTTAGAGCCACAAACTCGTTCTCTGCTGTGGCTCGAA
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GCTGCTGGCACTTTTGGTGGTTGTTGCTGTGGTACCTACGTGGAAGGATGGCTGGGGGGCAGAGTGAAGATATGCTAGGAAGAGAAAGTGGGGACCGTGTATGCAAGAAGGGGGCAAAACTCAAACACACACACAAGCACGCATACACGTGCACACATATAAACATGCGCATGCACATGCACTGCCTTCCGGCTGACTTCTGGCCTCCTCGGTCCCCTTCAGAGCCATCCAGACTGACAGGTGTGACAGGTAGAAGGTGCTGTGAGCACAGTCAGCACTGCCTGGCCAGGAGATGACAGAACCATCTGGGGACAAGGCCCTACGGGTGTCCAGGCGGAGAACAGGCCAGAACGACTCTAGTCTTCAGGCCATATCATCAGGCTGGGGTGCTCACCACTTGGTGGGTGTGGGGAACCCCAAGAAAGCAAGACATTGCAGCACACAAAGCAGGTCCCCAAGTTTATTGGAAAAGGGGAGACAAGAGGCCAGAGAGGCAGGGGGAACAGTCTCACAGTGCTTCTTCCAGGGAAGCAAGGCCCTTCTCCCCGGGAGGGGCTGAAGGCTGAGACAGGGGAAGGAATGGGTCTATTCCCCAGCCACAGGCCCCTTTCCAGTGGGATGAAAGGTGGGGAGGAGCCGCTGGTGGGAATGAGCCGATGGTGTATTCTCAGAACACAAGGGGAAAAGCCAGCGATGTGCTGCTGTTTTCAGCTGGTGGTGGGGCAGTGGCACGTCTGGCAGGCAGAAGGGGCTCCCCTGGCTCTCTTTTGGGCCACTTAATGCCTCCCCTGGCCGCAGGAGCCCCCTCCACAGGTGGTGTTCAGCTGGCCACAGGGCTTGCACAAACCAGTGCTCACCACCAGGTTCCCGTTGCAGGGGGCACTGCAGACGCTGCCCGTCACCGGCCGGGAGCCCGACACGCAGAGATCCCCGCACACAACCCCACCCCGGGAGCTGCTGACACCTGTGGGAACAAGGGCAGGGTCAAGAGACCCCTGCTGATGGCCATCCCATCCAGCCACCTTCCTTTGGTCTGTCTGATGTGTCGACCATCCAGGGAAGGATGCAAAGAGCCTCCAGTTCTATTCTGAAGGAGGGAACCCTAGCCTGGGAGCCAGCAGACCGGGGTTCTGGTCCTGGTTCTGCTTTGTGACTTTGGGAGTCCTTTCCTCTGTCTGGGCCTCAGCTTTCTCACCTATATAAGGTGAAGGTTATGAATGACATCTGAGGTCCCTTCTTGCAATGACATCTTATTATTTTTTCCCCTCCCCAACACATTCAGGCTGTGAGGTTCTTCCTGCGAGCTAACCTCAGTCTGTCTTGCTGCATGACCAACCTATCCTCTTTACTGGGGGAATTATTGGAAACACTCCTCCCAAAGTCTCTGCATATATTCATAGTCAAGAAGTCCTTTGTCCCCAGTCTACATTTTCCTTTTCAGGGCTCAAGATACTTACAGACATTCACAGCTTCAACACCTTCACACAGCCTGAGTGGGGAAAAAGTAAGGAAGGGGAAGATAAAAGAAGTCAGAATGAGGTCATCGAATTTCCGCTAGGTGCTGAAATGGGTCATCTCAGGGCTATTTCTGACCTACATTTATTCCCTTGTGCAGCTTAGAAAAAGTTGCCTTTCTGGCAGTTGAAGCAACGTCAGGTCACACTATTTAGCAAGTAGAGTATGGTTGGATTTCAATTCTTATTTGTCTCTCAGCTGTTATTTGCCTTTGTGCAGTGAACAACCTGAACAACCATATCTGTCAGGTCTAGATAGGCTCAACTTTCAGAAGGAGAAGGCCCTCTTGGGAAGACGAGGTCAGGGGTGGAGTTTGGCCAGCAACCCTGCCCTAGAATAGGTGATGTCCAAGAAACCAGGCAGGGTATGGATCTTGGAAGAGTTGAGAATGAGACAACTTGAAGATATGGATCTGGGATCCATAGAGGCAAGAATGTCACCTGGGGACTGAGACTGAGATAGGGAAAAATCAAAGGTGGGCAGGTCTATGCAAGTGGAGTGCTTAGGGCTGGGTTGGACCCACCTCTGCTCCTTGCCCTCCAGCAGGCGCCTGTAGGTGGCGATCTCGATATCCAGGCCTAGCTTGGAGTTCATCACCTCCTGGTACTCCCTGATCAGGCAGGCCATGTCTTGCTTGGCCTTCTGCAGGGCGCCCTCCAGCTCGGCCAGCTTGCAGCGGGCATCACTGAGGGCCGCCTCACCCTGCTGCTCAGACTGGGCCACCGCAGCTTCCAGCTTGGAGTTCTGGGAGGTAGGGGGAATATGGAGAGGATAAAGTGAAGTTTAGTTTCTTGAAATCCCAGCCAGTCTCCAATAGGATCATTCAACTTCTATCTTAAAATATTATCTCTCCAATCAGCTTCCTAACCTTCCTTCCCTCCTCACTTACACTACACACACACACACACACACACACCACACAGATACACACACACACCTTGGCCAAGACAATCAGAAATATTTCAGTAGATTTCTCATCTTACTCTGTCACCCATGAGACTGCACTGGGAAGACTTTTCCAGAATCTAACTCAAATCCCTCTGCCGAGGGCTAACCCCAGTCTCTTCCTACACTGAGGGGTGGGCCGGGCTCTGGTACCTGGCACTTGGCATTCTCCACCTCGGCTGTCAGCCTCTGGATCATGCGGTTCAGCTCGTTGATCTCCTCCTTGGTGCGGCGCAGGGTCTCCCCGTGCCTGATCACTGTGGCCTTCATCTCCTCACACTGCAGGAAGCAGAGATGTTCATGAGGCTCAGGATGAGACATCCCATTCATTCAGGACAGCTCAGATGATTGCACAGATTGTGCAGTGCTCGGCCTGTGCAACCACACGTGGCAGTCCTGCCCTGCCACCCCAACATGAGAGCTATTGGTTTTTCTCTTACCATCCTTAGGGATCAGAATCCCTAGACAAAGAAGCCTTTTCTACTAGATACCTCACATCCCTCCCACTGCCATGTCTAGCAGGCAGGTGTCCTGTGCCGCTCACCTTGCTGCGATACCAGGACTCGGCCTCAGCCCGGCTACGGGTGGCAATGTCATCATACTGTGCCTTGATCTCGGCAACGATGCAGTCCATGTTCAGGTCCCGGCTGTTGTCCAGCTTGACAACCACGGAGGTGTCTGAGATGTGGGATTGGAGAATGCGGATCTCCTGCAGGAGGTGGGGAAAGGAAGGACAACTCACTTATCTGGGCTTCTCCTAATCCCTGGATGCCTATCATCCTTTTGGCTCATCGGGAGTGAACTTCTCATGTTTAGAGAAACAAACCTGATGAAATCACATAACTTTCTGCACAAATAGGAAATCCCTTTAGAGGAAAACACAACCACTTCTCAACTGCTTGCTTTTGGAATTATTCAGGCCCATGTGCAGCCAGCATGGTCCAGATGCTTTCCAGGGGCTCAGACCCTGTATGGGGGGCCTCTTTCCATTCTCCTAGACCAACCCCATGTAGGAAGGCTATTGCTGCCAGAGAAAGCCCTGGGCCAGAGCAATGGGTTCAATTCTGTTTGATGCTGTGTGGGGTCTATGCTGCAGTCCACTGGCTCAGGGGAAGGATGCAGGGCAGGTTCCCAAGGCACAGGTGTCTGGGGTGCTCACTCTCCTGCCCCTTACTAAATTTGTTCCTTTTTGGCTTTCCATCCGTTTGCCTCCCTGTTCCTTCCCTCTCCTTGCTCCCTGCCAACCCTCCAGCCGTGAGCCTGGGTTCATATGTCAGCAGGCCTGGTTCATGCCTGTGGGTGTCTGGGCAGAGGGTCAGGGATCCCATGGGGGGATCTGTGCCCACCATGGTTGAGAGCCCCTCACCTCCTCGTACAGCCGCCTCAGGAAGTCAATCTCCTGGATCAGGGCCTCCACGTTGGCCTCCAGGTCTGACTTGCGGAGGTAGGCGCAGTCCACATCCTGGGTGGGGTAGAAGGGGCTGTGAGGCCGGCTTTCCTCAGAGGGCTCTGAGGACCTGGCTGCCATGTGGCAGGACAAAGAGGATGGGTGGCGGGACTCAGGGCGGGCTCAGGGCCAGCTGGGCTTCACTCACCTTCTTTAGAGCCACAAACTCGTTCTCTGCTGTGGCTCGAA
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Task1_train_17857
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This variant affects gene KRT6B (keratin 6B) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Pachyonychia congenita 4
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TTGGCTCACTGCAACCTCCACCTCCCAGACTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGCATAACACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTTCTTGTTGACCAGGCTGGTCTCAAACACCTGGCCTTAAGTGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTAACAGGTGTGAGCCACCAAGTCCGGCCCCAGGATAAGTTCTTAAGTTCAGCCCATGTATCTTTGAGTTGTGTCAAAACCATTCCAAAACATATGGCACTGCATGGCTTTAAATCCATACACTGAGATTTGAGGATGCTCCTTTACTGTATCTATTAGTTTGAATGATGGATTTTAGAAGTTTATATCAGAGCAAGCATTGGTGGCAAAAGTCTTAATAATCATAGAGTCAGGGCAAGCACCTGCTTCTTACCAAGTGTTTCTGATCTGCAGGGTCAGTGCAATATTTCCCTGGTGGTGGGGAGCCGGGGAGAGAGGGAGTCTCAGAGATCAGTGTGGGGTCAAGCCACCAAATGATGGGGCTGAAAAATAAAAAATATAAATGAATCTTAGTTATCAGATTATGCTGATCCAGATTCCAGGAATTAGCTTCCCTTTTTGTTCTGATGCTTTATAAAAGACTCCATTTGTGGAAAAATTCCCAAGTGGTGAGGGCTGAGTAGTTGGTGATTGTCCACCGGAGTGTCCGACAGAATCACATAATGTTGACTGATGGAGTAGGCTGTGGAGGGGGAGCTCCCGACTCATCCTCCATGATGACTGGTCAGTGGGGAGAGCAGCAGTTCCCCAAAGATAAGAAACCATTTGTGGGGTGCGAATGTTTCTAAACCAGGAAGTGGTCAGCAATACAATCTAACACAACATGTTCACATTCTCAATATGCTTTATTCAACAGAACAAAAGAAGGCAAAGAGAGCAGAGAAAGCAGTGCAGGAATGCAGACTGCATCAGAAGGTACATCACTTGCCATTCAGGGACACTGCAAGAGAAGATCAGGACAACTGACTTGTCAGATGAGAACTCCTGAGTGTAGCTATAATGGGCAGGATGGTTAGCAATTAAAGAGAGGACTCCTCATCTGCAGCTGGACCTAGACTGAGTTTCAGTTCTTATGGGGATATAGGTCATTTTCTTCTCAGAATTATGGCAGACTCAGATACCTGTAATAATACGGGAACTAAAAAGGACATTCGCATGTCTGAGTGCTGATAACTGTTGACTTGATGGTAAGCAACAGGAGCTCAGTGGAACAGGTATTGATGAGAAGAAAAGTGAGGGCATCCCAGCTCTACCCGGGAGGGCAGGGGAGACTGGAGGCCAGGGGAGGACAAGCAACCTGAGGAGAGGGCTCTGCTGCCAGAGAGGGGCCTGAGAGCTGTGGGACTGAGAGCTGGCGGCAGCACTTCAGTGCTTGTAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAGTGGCTCTGCCGCTGCTGGAACTAAAGCCGCCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCGCTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACTACAGCTGTGGTGGGGAGGGGACAAGGACACAAGAAGCCACAATGAGTTCATCCTGCCGGCCTGAGCCCAGTCAGGAGAGTGCAAGGGCAGGGGAGGAAGGCAAACAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTTCCCTGGACGAGCATGGGAAGCCTCAGTGGGTGGGAAAGTCCATGGGAAAACTTTTAGTTTTCTCCCAAGAAGAGCAATTATGGCCTTGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGAACCTTGAAGATGGACTCAGCTGTTGGAGGAAGTCGCGTCAGTTACCCACCTGCACTCCTCGCCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACATCCAGGGCCAGCTTGACGTTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTAGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGTAGGTTGGCACACTAGGAGGGCAAAGGAAGAGAAAGAACTTGTCATCTGGTCTTCCAGAGAAGAATAAACCTGGCTGGTTCTTTTCCAGTGAAGAAGGCACCAGGAACCCAGAACTGATGGTAAATGAGCTCTGACTCTTCCTGTCTAGCCTTTTTACTGTCTTCAAAGTTTTTACGTCTGGAGTCACATGATAAAATCCTGTGCCCTTTCTGTTAACTCCACTGCCTAAAGATGTGGGTGATGACCAATGGAAGATGCCACAGTGGACACAAGACCAAGGACATTAAGTGTTGGCTCCAAAGCAAAAAAACCAAAACCATTTTTGATGACCTTACATGGATGCCACAATAATTTGCAAACGTTGTCAACTGAGGTGATGAGTTTTCACATGAGGCTGTTGTGACCTTGCCTTCCTCCTGCCTCACATCCTCTCACCTGCTTGGGCCACGTTTTCCTTCCTCATAGCCCTGGTTTCACTTGCTTTTTCACCGTGAACCTTGAGCAGATTTGCAGCAATGTTACTGATGCTTTCTGACCTGACATCTTGCCCAACTTGGTCCTTTGCAATTCCAAAGTCAATCAGTCTTCTTACATAAGCCCTTCCAATGCCTCTAGACTATACTTTTACAGCTTTGACCAGCTGAGAGTGCTTCTGCCCAGGTGATTGTTTCATATCCTTGGGTGTGATCCATGTCTCTGAGCCAGAGTGTTCTCACTGAGCCTAGGAACTGCATGTCTTTCCTTCTCTGCTTATCAATCAATTCCCAAAGAATTTTACTAAATGATGGGTGACTACTGCCTCATGACCTAATAAAAAAAATGATGCTTTTCTCCTCCATTGCCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGATCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGAATGTCATGAAGTGGACCTAATGGCTTCTCCCCAAGAAACTTGAGGAAAAGTTGATGTTATGTGGTGGGTGGATACTAAACACTGGAGTCACAGACCATCCTTATTATGGCACCACTGCCTGCCTAGTTTTCTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGTCAGCAACCAAGGTGAAGCTAAAAGCACAGATGACTATGTCCTTGTCTATCGTAGCTTGCCTCCTGCATTGGGTTGTTTTTCCTCCTTGACTTGGGCATAAGTTCCGCAAATGTCTACTCTAATAGTGCAGAGTGCATGTCCTGTGAGAGGACCCCAGCTTCCTGTCAGGGGATGTCCCCAGTGAAGTCTGCAGTCCTCTGGTATTCAGGGATGGACACAAGGATTCCTCAGCGGCTGTCCACTCCGTGCTCACCTTTGTCTGGTACCAGGACTCAGCCTCAGCCCTGCTCCTCTGAGCAATCTCCTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGATAGCACCACGGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCTGACATTTACAGAGATGCCCAGCCCTGTACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGTTGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCATCTGTAAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCAT
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TTGGCTCACTGCAACCTCCACCTCCCAGACTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGCATAACACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTTCTTGTTGACCAGGCTGGTCTCAAACACCTGGCCTTAAGTGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTAACAGGTGTGAGCCACCAAGTCCGGCCCCAGGATAAGTTCTTAAGTTCAGCCCATGTATCTTTGAGTTGTGTCAAAACCATTCCAAAACATATGGCACTGCATGGCTTTAAATCCATACACTGAGATTTGAGGATGCTCCTTTACTGTATCTATTAGTTTGAATGATGGATTTTAGAAGTTTATATCAGAGCAAGCATTGGTGGCAAAAGTCTTAATAATCATAGAGTCAGGGCAAGCACCTGCTTCTTACCAAGTGTTTCTGATCTGCAGGGTCAGTGCAATATTTCCCTGGTGGTGGGGAGCCGGGGAGAGAGGGAGTCTCAGAGATCAGTGTGGGGTCAAGCCACCAAATGATGGGGCTGAAAAATAAAAAATATAAATGAATCTTAGTTATCAGATTATGCTGATCCAGATTCCAGGAATTAGCTTCCCTTTTTGTTCTGATGCTTTATAAAAGACTCCATTTGTGGAAAAATTCCCAAGTGGTGAGGGCTGAGTAGTTGGTGATTGTCCACCGGAGTGTCCGACAGAATCACATAATGTTGACTGATGGAGTAGGCTGTGGAGGGGGAGCTCCCGACTCATCCTCCATGATGACTGGTCAGTGGGGAGAGCAGCAGTTCCCCAAAGATAAGAAACCATTTGTGGGGTGCGAATGTTTCTAAACCAGGAAGTGGTCAGCAATACAATCTAACACAACATGTTCACATTCTCAATATGCTTTATTCAACAGAACAAAAGAAGGCAAAGAGAGCAGAGAAAGCAGTGCAGGAATGCAGACTGCATCAGAAGGTACATCACTTGCCATTCAGGGACACTGCAAGAGAAGATCAGGACAACTGACTTGTCAGATGAGAACTCCTGAGTGTAGCTATAATGGGCAGGATGGTTAGCAATTAAAGAGAGGACTCCTCATCTGCAGCTGGACCTAGACTGAGTTTCAGTTCTTATGGGGATATAGGTCATTTTCTTCTCAGAATTATGGCAGACTCAGATACCTGTAATAATACGGGAACTAAAAAGGACATTCGCATGTCTGAGTGCTGATAACTGTTGACTTGATGGTAAGCAACAGGAGCTCAGTGGAACAGGTATTGATGAGAAGAAAAGTGAGGGCATCCCAGCTCTACCCGGGAGGGCAGGGGAGACTGGAGGCCAGGGGAGGACAAGCAACCTGAGGAGAGGGCTCTGCTGCCAGAGAGGGGCCTGAGAGCTGTGGGACTGAGAGCTGGCGGCAGCACTTCAGTGCTTGTAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAGTGGCTCTGCCGCTGCTGGAACTAAAGCCGCCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCGCTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACTACAGCTGTGGTGGGGAGGGGACAAGGACACAAGAAGCCACAATGAGTTCATCCTGCCGGCCTGAGCCCAGTCAGGAGAGTGCAAGGGCAGGGGAGGAAGGCAAACAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTTCCCTGGACGAGCATGGGAAGCCTCAGTGGGTGGGAAAGTCCATGGGAAAACTTTTAGTTTTCTCCCAAGAAGAGCAATTATGGCCTTGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGAACCTTGAAGATGGACTCAGCTGTTGGAGGAAGTCGCGTCAGTTACCCACCTGCACTCCTTGCCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACATCCAGGGCCAGCTTGACGTTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTAGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGTAGGTTGGCACACTAGGAGGGCAAAGGAAGAGAAAGAACTTGTCATCTGGTCTTCCAGAGAAGAATAAACCTGGCTGGTTCTTTTCCAGTGAAGAAGGCACCAGGAACCCAGAACTGATGGTAAATGAGCTCTGACTCTTCCTGTCTAGCCTTTTTACTGTCTTCAAAGTTTTTACGTCTGGAGTCACATGATAAAATCCTGTGCCCTTTCTGTTAACTCCACTGCCTAAAGATGTGGGTGATGACCAATGGAAGATGCCACAGTGGACACAAGACCAAGGACATTAAGTGTTGGCTCCAAAGCAAAAAAACCAAAACCATTTTTGATGACCTTACATGGATGCCACAATAATTTGCAAACGTTGTCAACTGAGGTGATGAGTTTTCACATGAGGCTGTTGTGACCTTGCCTTCCTCCTGCCTCACATCCTCTCACCTGCTTGGGCCACGTTTTCCTTCCTCATAGCCCTGGTTTCACTTGCTTTTTCACCGTGAACCTTGAGCAGATTTGCAGCAATGTTACTGATGCTTTCTGACCTGACATCTTGCCCAACTTGGTCCTTTGCAATTCCAAAGTCAATCAGTCTTCTTACATAAGCCCTTCCAATGCCTCTAGACTATACTTTTACAGCTTTGACCAGCTGAGAGTGCTTCTGCCCAGGTGATTGTTTCATATCCTTGGGTGTGATCCATGTCTCTGAGCCAGAGTGTTCTCACTGAGCCTAGGAACTGCATGTCTTTCCTTCTCTGCTTATCAATCAATTCCCAAAGAATTTTACTAAATGATGGGTGACTACTGCCTCATGACCTAATAAAAAAAATGATGCTTTTCTCCTCCATTGCCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGATCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGAATGTCATGAAGTGGACCTAATGGCTTCTCCCCAAGAAACTTGAGGAAAAGTTGATGTTATGTGGTGGGTGGATACTAAACACTGGAGTCACAGACCATCCTTATTATGGCACCACTGCCTGCCTAGTTTTCTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGTCAGCAACCAAGGTGAAGCTAAAAGCACAGATGACTATGTCCTTGTCTATCGTAGCTTGCCTCCTGCATTGGGTTGTTTTTCCTCCTTGACTTGGGCATAAGTTCCGCAAATGTCTACTCTAATAGTGCAGAGTGCATGTCCTGTGAGAGGACCCCAGCTTCCTGTCAGGGGATGTCCCCAGTGAAGTCTGCAGTCCTCTGGTATTCAGGGATGGACACAAGGATTCCTCAGCGGCTGTCCACTCCGTGCTCACCTTTGTCTGGTACCAGGACTCAGCCTCAGCCCTGCTCCTCTGAGCAATCTCCTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGATAGCACCACGGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCTGACATTTACAGAGATGCCCAGCCCTGTACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGTTGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCATCTGTAAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCAT
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Task1_train_17858
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The gene KRT6B (keratin 6B) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Pachyonychia congenita 4
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CTGCAACCTCCACCTCCCAGACTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGCATAACACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTTCTTGTTGACCAGGCTGGTCTCAAACACCTGGCCTTAAGTGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTAACAGGTGTGAGCCACCAAGTCCGGCCCCAGGATAAGTTCTTAAGTTCAGCCCATGTATCTTTGAGTTGTGTCAAAACCATTCCAAAACATATGGCACTGCATGGCTTTAAATCCATACACTGAGATTTGAGGATGCTCCTTTACTGTATCTATTAGTTTGAATGATGGATTTTAGAAGTTTATATCAGAGCAAGCATTGGTGGCAAAAGTCTTAATAATCATAGAGTCAGGGCAAGCACCTGCTTCTTACCAAGTGTTTCTGATCTGCAGGGTCAGTGCAATATTTCCCTGGTGGTGGGGAGCCGGGGAGAGAGGGAGTCTCAGAGATCAGTGTGGGGTCAAGCCACCAAATGATGGGGCTGAAAAATAAAAAATATAAATGAATCTTAGTTATCAGATTATGCTGATCCAGATTCCAGGAATTAGCTTCCCTTTTTGTTCTGATGCTTTATAAAAGACTCCATTTGTGGAAAAATTCCCAAGTGGTGAGGGCTGAGTAGTTGGTGATTGTCCACCGGAGTGTCCGACAGAATCACATAATGTTGACTGATGGAGTAGGCTGTGGAGGGGGAGCTCCCGACTCATCCTCCATGATGACTGGTCAGTGGGGAGAGCAGCAGTTCCCCAAAGATAAGAAACCATTTGTGGGGTGCGAATGTTTCTAAACCAGGAAGTGGTCAGCAATACAATCTAACACAACATGTTCACATTCTCAATATGCTTTATTCAACAGAACAAAAGAAGGCAAAGAGAGCAGAGAAAGCAGTGCAGGAATGCAGACTGCATCAGAAGGTACATCACTTGCCATTCAGGGACACTGCAAGAGAAGATCAGGACAACTGACTTGTCAGATGAGAACTCCTGAGTGTAGCTATAATGGGCAGGATGGTTAGCAATTAAAGAGAGGACTCCTCATCTGCAGCTGGACCTAGACTGAGTTTCAGTTCTTATGGGGATATAGGTCATTTTCTTCTCAGAATTATGGCAGACTCAGATACCTGTAATAATACGGGAACTAAAAAGGACATTCGCATGTCTGAGTGCTGATAACTGTTGACTTGATGGTAAGCAACAGGAGCTCAGTGGAACAGGTATTGATGAGAAGAAAAGTGAGGGCATCCCAGCTCTACCCGGGAGGGCAGGGGAGACTGGAGGCCAGGGGAGGACAAGCAACCTGAGGAGAGGGCTCTGCTGCCAGAGAGGGGCCTGAGAGCTGTGGGACTGAGAGCTGGCGGCAGCACTTCAGTGCTTGTAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAGTGGCTCTGCCGCTGCTGGAACTAAAGCCGCCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCGCTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACTACAGCTGTGGTGGGGAGGGGACAAGGACACAAGAAGCCACAATGAGTTCATCCTGCCGGCCTGAGCCCAGTCAGGAGAGTGCAAGGGCAGGGGAGGAAGGCAAACAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTTCCCTGGACGAGCATGGGAAGCCTCAGTGGGTGGGAAAGTCCATGGGAAAACTTTTAGTTTTCTCCCAAGAAGAGCAATTATGGCCTTGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGAACCTTGAAGATGGACTCAGCTGTTGGAGGAAGTCGCGTCAGTTACCCACCTGCACTCCTCGCCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACATCCAGGGCCAGCTTGACGTTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTAGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGTAGGTTGGCACACTAGGAGGGCAAAGGAAGAGAAAGAACTTGTCATCTGGTCTTCCAGAGAAGAATAAACCTGGCTGGTTCTTTTCCAGTGAAGAAGGCACCAGGAACCCAGAACTGATGGTAAATGAGCTCTGACTCTTCCTGTCTAGCCTTTTTACTGTCTTCAAAGTTTTTACGTCTGGAGTCACATGATAAAATCCTGTGCCCTTTCTGTTAACTCCACTGCCTAAAGATGTGGGTGATGACCAATGGAAGATGCCACAGTGGACACAAGACCAAGGACATTAAGTGTTGGCTCCAAAGCAAAAAAACCAAAACCATTTTTGATGACCTTACATGGATGCCACAATAATTTGCAAACGTTGTCAACTGAGGTGATGAGTTTTCACATGAGGCTGTTGTGACCTTGCCTTCCTCCTGCCTCACATCCTCTCACCTGCTTGGGCCACGTTTTCCTTCCTCATAGCCCTGGTTTCACTTGCTTTTTCACCGTGAACCTTGAGCAGATTTGCAGCAATGTTACTGATGCTTTCTGACCTGACATCTTGCCCAACTTGGTCCTTTGCAATTCCAAAGTCAATCAGTCTTCTTACATAAGCCCTTCCAATGCCTCTAGACTATACTTTTACAGCTTTGACCAGCTGAGAGTGCTTCTGCCCAGGTGATTGTTTCATATCCTTGGGTGTGATCCATGTCTCTGAGCCAGAGTGTTCTCACTGAGCCTAGGAACTGCATGTCTTTCCTTCTCTGCTTATCAATCAATTCCCAAAGAATTTTACTAAATGATGGGTGACTACTGCCTCATGACCTAATAAAAAAAATGATGCTTTTCTCCTCCATTGCCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGATCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGAATGTCATGAAGTGGACCTAATGGCTTCTCCCCAAGAAACTTGAGGAAAAGTTGATGTTATGTGGTGGGTGGATACTAAACACTGGAGTCACAGACCATCCTTATTATGGCACCACTGCCTGCCTAGTTTTCTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGTCAGCAACCAAGGTGAAGCTAAAAGCACAGATGACTATGTCCTTGTCTATCGTAGCTTGCCTCCTGCATTGGGTTGTTTTTCCTCCTTGACTTGGGCATAAGTTCCGCAAATGTCTACTCTAATAGTGCAGAGTGCATGTCCTGTGAGAGGACCCCAGCTTCCTGTCAGGGGATGTCCCCAGTGAAGTCTGCAGTCCTCTGGTATTCAGGGATGGACACAAGGATTCCTCAGCGGCTGTCCACTCCGTGCTCACCTTTGTCTGGTACCAGGACTCAGCCTCAGCCCTGCTCCTCTGAGCAATCTCCTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGATAGCACCACGGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCTGACATTTACAGAGATGCCCAGCCCTGTACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGTTGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCATCTGTAAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAG
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CTGCAACCTCCACCTCCCAGACTCAAGTGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGTGCATAACACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCTTCTTGTTGACCAGGCTGGTCTCAAACACCTGGCCTTAAGTGATCCACCTGCCTCGACCTCCCAAAGTGCTGGGATTAACAGGTGTGAGCCACCAAGTCCGGCCCCAGGATAAGTTCTTAAGTTCAGCCCATGTATCTTTGAGTTGTGTCAAAACCATTCCAAAACATATGGCACTGCATGGCTTTAAATCCATACACTGAGATTTGAGGATGCTCCTTTACTGTATCTATTAGTTTGAATGATGGATTTTAGAAGTTTATATCAGAGCAAGCATTGGTGGCAAAAGTCTTAATAATCATAGAGTCAGGGCAAGCACCTGCTTCTTACCAAGTGTTTCTGATCTGCAGGGTCAGTGCAATATTTCCCTGGTGGTGGGGAGCCGGGGAGAGAGGGAGTCTCAGAGATCAGTGTGGGGTCAAGCCACCAAATGATGGGGCTGAAAAATAAAAAATATAAATGAATCTTAGTTATCAGATTATGCTGATCCAGATTCCAGGAATTAGCTTCCCTTTTTGTTCTGATGCTTTATAAAAGACTCCATTTGTGGAAAAATTCCCAAGTGGTGAGGGCTGAGTAGTTGGTGATTGTCCACCGGAGTGTCCGACAGAATCACATAATGTTGACTGATGGAGTAGGCTGTGGAGGGGGAGCTCCCGACTCATCCTCCATGATGACTGGTCAGTGGGGAGAGCAGCAGTTCCCCAAAGATAAGAAACCATTTGTGGGGTGCGAATGTTTCTAAACCAGGAAGTGGTCAGCAATACAATCTAACACAACATGTTCACATTCTCAATATGCTTTATTCAACAGAACAAAAGAAGGCAAAGAGAGCAGAGAAAGCAGTGCAGGAATGCAGACTGCATCAGAAGGTACATCACTTGCCATTCAGGGACACTGCAAGAGAAGATCAGGACAACTGACTTGTCAGATGAGAACTCCTGAGTGTAGCTATAATGGGCAGGATGGTTAGCAATTAAAGAGAGGACTCCTCATCTGCAGCTGGACCTAGACTGAGTTTCAGTTCTTATGGGGATATAGGTCATTTTCTTCTCAGAATTATGGCAGACTCAGATACCTGTAATAATACGGGAACTAAAAAGGACATTCGCATGTCTGAGTGCTGATAACTGTTGACTTGATGGTAAGCAACAGGAGCTCAGTGGAACAGGTATTGATGAGAAGAAAAGTGAGGGCATCCCAGCTCTACCCGGGAGGGCAGGGGAGACTGGAGGCCAGGGGAGGACAAGCAACCTGAGGAGAGGGCTCTGCTGCCAGAGAGGGGCCTGAGAGCTGTGGGACTGAGAGCTGGCGGCAGCACTTCAGTGCTTGTAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAGTGGCTCTGCCGCTGCTGGAACTAAAGCCGCCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCGCTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACTACAGCTGTGGTGGGGAGGGGACAAGGACACAAGAAGCCACAATGAGTTCATCCTGCCGGCCTGAGCCCAGTCAGGAGAGTGCAAGGGCAGGGGAGGAAGGCAAACAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTTCCCTGGACGAGCATGGGAAGCCTCAGTGGGTGGGAAAGTCCATGGGAAAACTTTTAGTTTTCTCCCAAGAAGAGCAATTATGGCCTTGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGAACCTTGAAGATGGACTCAGCTGTTGGAGGAAGTCGCGTCAGTTACCCACCTGCACTCCTCGCCCTCCCGCAGCTTGCGGTAGGTGGCGATCTCCACATCCAGGGCCAGCTTGACGTTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTAGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGTAGGTTGGCACACTAGGAGGGCAAAGGAAGAGAAAGAACTTGTCATCTGGTCTTCCAGAGAAGAATAAACCTGGCTGGTTCTTTTCCAGTGAAGAAGGCACCAGGAACCCAGAACTGATGGTAAATGAGCTCTGACTCTTCCTGTCTAGCCTTTTTACTGTCTTCAAAGTTTTTACGTCTGGAGTCACATGATAAAATCCTGTGCCCTTTCTGTTAACTCCACTGCCTAAAGATGTGGGTGATGACCAATGGAAGATGCCACAGTGGACACAAGACCAAGGACATTAAGTGTTGGCTCCAAAGCAAAAAAACCAAAACCATTTTTGATGACCTTACATGGATGCCACAATAATTTGCAAACGTTGTCAACTGAGGTGATGAGTTTTCACATGAGGCTGTTGTGACCTTGCCTTCCTCCTGCCTCACATCCTCTCACCTGCTTGGGCCACGTTTTCCTTCCTCATAGCCCTGGTTTCACTTGCTTTTTCACCGTGAACCTTGAGCAGATTTGCAGCAATGTTACTGATGCTTTCTGACCTGACATCTTGCCCAACTTGGTCCTTTGCAATTCCAAAGTCAATCAGTCTTCTTACATAAGCCCTTCCAATGCCTCTAGACTATACTTTTACAGCTTTGACCAGCTGAGAGTGCTTCTGCCCAGGTGATTGTTTCATATCCTTGGGTGTGATCCATGTCTCTGAGCCAGAGTGTTCTCACTGAGCCTAGGAACTGCATGTCTTTCCTTCTCTGCTTATCAATCAATTCCCAAAGAATTTTACTAAATGATGGGTGACTACTGCCTCATGACCTAATAAAAAAAATGATGCTTTTCTCCTCCATTGCCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGATCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGAATGTCATGAAGTGGACCTAATGGCTTCTCCCCAAGAAACTTGAGGAAAAGTTGATGTTATGTGGTGGGTGGATACTAAACACTGGAGTCACAGACCATCCTTATTATGGCACCACTGCCTGCCTAGTTTTCTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGTCAGCAACCAAGGTGAAGCTAAAAGCACAGATGACTATGTCCTTGTCTATCGTAGCTTGCCTCCTGCATTGGGTTGTTTTTCCTCCTTGACTTGGGCATAAGTTCCGCAAATGTCTACTCTAATAGTGCAGAGTGCATGTCCTGTGAGAGGACCCCAGCTTCCTGTCAGGGGATGTCCCCAGTGAAGTCTGCAGTCCTCTGGTATTCAGGGATGGACACAAGGATTCCTCAGCGGCTGTCCACTCCGTGCTCACCTTTGTCTGGTACCAGGACTCAGCCTCAGCCCTGCTCCTCTGAGCAATCTCCTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGATAGCACCACGGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCTGACATTTACAGAGATGCCCAGCCCTGTACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGTTGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCATCTGTAAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAG
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Task1_train_17859
|
This mutation occurs in KRT6A (keratin 6A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Pachyonychia congenita 3
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GACCTTGAACCTTATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCTTTCTGAATTTGTTCTATTTCCTCAGGATATATTTCTAGAAGTATAATTACGGTTCAGTGTATGCACATTTTAATTGTGCTTGATACATGTTGTCAGGCAAGTTTCTTGCTTATGAGGGCAATTATAATGATTAATCACATATCTGATTCTTTTGTCAAATAACTTGCTCTAGTTGGCCGAGAATATGTTTCTTAACTGGACAATTAGGCTGAGCCCTGGCGTAAGGGGAAAAGTGGTCCTGGAAACCAAGGCAGAGGGAATGGGATGCTAGTTCCTGGTATGGTCAGTTAAAACGGAGTGGACAATGCTGGTGGACCAGATGCCTCCCACTCCATTTGCCAAAAGTTCATATGGAATTTGATCTAGAAATACACTCTGAATGTCATGATACCAAGCTGAAGTTTGATGAACCTCTCTAAAGGAGGGGAGTTATGTGTATAAAGAATAGATTATCTTTTAAAAACAACTATTCACTTATCAGATAAAAAAGTTTAAGCCCAAAACTTTGGCCCCAAAGCAAGGCAAAGTAAAAGAATATATTGTATTATAAATCTGCTTTATTTAGCAATTGCAAACAGCGAAGAGCACAGAAATCATCACAGAGATACAGGCTTTGTACATCATAGGACTAGTCACTTGTGCTTTCATGGATACTGCCTGGGTGGGGGTTCACAACACTTATAAGTTAGAGAGTTTGAGAGCCAGTGGAAAGTAAGTGGAAGTTGTTCTGAAATAAGCCCCTGGCAATTTTCTGCAATGAAAAGGAGCAGAGGTCATTTTCTTATAATGCTCAGCCTCAGAGATAGAACACTGGAGGCAAGAAATTAATAATTTAGTAACAGTGAAGCTCCAGTGGTGATTACATCATGATGTAAAATCAGAGGTTGATCTGATGGTGAGCAATGGGTGCTCAGATGGTATAGAGAGAGAGAGAAGAAGTGAGGGCACTAAGCATCCATACCCAGCTCTACCTGGGACAGCAGGGGAGACTGGAGGCCAGGAGAGGAAAGGCAACCTGAGGAGAGGGCTCTGCAGCCAGAGAGGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAATGGCTCTGCCACTGCTGGAACTGAAGCCACCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACCACAGCTGTGATGGGGAGGGGACAAGGACACAAGAAGCCATGGTGAGCTCATCCTGTCAGCCTGAGCCCAGTCAGAAGAGTGCGAGGGCAGGGGAGGAAGGCAAGCAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTCAGAGAGCTCTTCCTTCCCTGGACCAGCGTGGGCAGCCTCGGTGGGTGGAAGAGTCCATGGGAAACTGCTCTTTTAGTTTTCTCTCAGGAAGAGCAATTATGGCCATGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGGAACCTTGAAGATGGACTCAGCTGTTGAAGGAGTTCGTGTCAGTTACCCACCTGCACTCCTCACCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTGGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGCAGGTTGGCGCACTGGAAGAGGAAAGGAATAGAAGAAACTTGTCATCCGGTCTTCCAGAGGAGACTAAACCTGGCTGGTTATTTCCTAGTGAAGGGGCCAGGAGCCCAGAATTGATGGTGAATGAGCTCTGACTCTTCCTATCTATTGTTTTTTTTTTTATTTTGCAGTTTTTGTCCAGTCTGGTTCATTTGACAAAAACTCATAACCCTTTTTGTGAACCACTCTGTGGGAGAATGTGGATATTTACTAATGGGAGACACTGCAGTGGACACATACACTGGAAGAAATGTACCTGCTGGTTTGTTTGGAGTGTTGTCTCCACAGTCAAATCAAGACCACTTATGATTACCTCATATAGATGCCACACTAACATACACAAAATTAAGACCATCCTGAAGTGAGGTGATGAGTCTTCACATGAGACTGCTGAGACCTTGCCTTCCTCCCCCTCAGAATCTCTCATCTACTGTTCTTTGTCCTTTGCCCTTCCTCTACTCTCTCTTTCACCTTGAGTCTTGAGCAGATTTGAAACAATGTTCCTTGTGCTTTCTTATCTGCCCTTTTCTTTTTCAATTTGTTCCTTTGCAGTTTCCAAGTCAGTCTTCCTATGGAAATAAATCCAATTCCTCTAGACCAAGCTTGTCCAACCTACAGCCCACAGGCCACATGCAGCCCAGGATGGCTTTAAATGCAGCCCAACACAAATTCTTAAACTTTCTGAATACATTATGAGGGTTTTTTCTTTTTCTTTTTCTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTATCGACTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCTTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCTCCACCATGCCCGGCTAATTTTTATGTATTTTTAATAGAGGCGGCGTTTCACCATGTTGGTCAGGCTTGTCTCTCACTCCTGACCTCATGATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGACAAGGCTGTATGTTTTGTTTTGTTTTGTTTTAGCTTATCAGCTATTGTTTGTATTAGTGTATTTTATGTGTGGCCCAAGATAGTTCTTCTTGTTCCACTGTGGTCCAGGGAAGCCAAAATACTGGACACTCCTGCTCTAAACCATGTTTTTGCAGCTCTGAGCATCGTGACTGGTTCTCTCATGTGTTTGTGTCATGCCATAGGTAGGATCTATGTCTCCTAAGCAGCAGGTACCCACTAAGGGTAGGAAATGATAGCCTCCTCTCCCTGGTTTTGATAAGTTCCAGGGGATTTTCCCTAATATAATGGTTGATGGCTGCCTGACGACCTGACAAGGAAATGCTTCTCTCCTCCATTGTCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGACCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGCATGTCATGAAGTGGACCTAAAGGCTTCTCCTCAAGAAACTTGAGGAAAAGTTGATATTATGTGGTTGGTGGATACTAAACACTGGAGTCACAGACCATCCTCATTATGGCACCACTGCCTGCCTAGTTTCTTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGCCAGCAATCAGGGTGAAGCTAAATGCAGAGATGACTATGTCCTTGTCTATGGTAGCTTTCCTCCTGCATTGGGTTCTT
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GACCTTGAACCTTATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCTTTCTGAATTTGTTCTATTTCCTCAGGATATATTTCTAGAAGTATAATTACGGTTCAGTGTATGCACATTTTAATTGTGCTTGATACATGTTGTCAGGCAAGTTTCTTGCTTATGAGGGCAATTATAATGATTAATCACATATCTGATTCTTTTGTCAAATAACTTGCTCTAGTTGGCCGAGAATATGTTTCTTAACTGGACAATTAGGCTGAGCCCTGGCGTAAGGGGAAAAGTGGTCCTGGAAACCAAGGCAGAGGGAATGGGATGCTAGTTCCTGGTATGGTCAGTTAAAACGGAGTGGACAATGCTGGTGGACCAGATGCCTCCCACTCCATTTGCCAAAAGTTCATATGGAATTTGATCTAGAAATACACTCTGAATGTCATGATACCAAGCTGAAGTTTGATGAACCTCTCTAAAGGAGGGGAGTTATGTGTATAAAGAATAGATTATCTTTTAAAAACAACTATTCACTTATCAGATAAAAAAGTTTAAGCCCAAAACTTTGGCCCCAAAGCAAGGCAAAGTAAAAGAATATATTGTATTATAAATCTGCTTTATTTAGCAATTGCAAACAGCGAAGAGCACAGAAATCATCACAGAGATACAGGCTTTGTACATCATAGGACTAGTCACTTGTGCTTTCATGGATACTGCCTGGGTGGGGGTTCACAACACTTATAAGTTAGAGAGTTTGAGAGCCAGTGGAAAGTAAGTGGAAGTTGTTCTGAAATAAGCCCCTGGCAATTTTCTGCAATGAAAAGGAGCAGAGGTCATTTTCTTATAATGCTCAGCCTCAGAGATAGAACACTGGAGGCAAGAAATTAATAATTTAGTAACAGTGAAGCTCCAGTGGTGATTACATCATGATGTAAAATCAGAGGTTGATCTGATGGTGAGCAATGGGTGCTCAGATGGTATAGAGAGAGAGAGAAGAAGTGAGGGCACTAAGCATCCATACCCAGCTCTACCTGGGACAGCAGGGGAGACTGGAGGCCAGGAGAGGAAAGGCAACCTGAGGAGAGGGCTCTGCAGCCAGAGAGGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAATGGCTCTGCCACTGCTGGAACTGAAGCCACCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACCACAGCTGTGATGGGGAGGGGACAAGGACACAAGAAGCCATGGTGAGCTCATCCTGTCAGCCTGAGCCCAGTCAGAAGAGTGCGAGGGCAGGGGAGGAAGGCAAGCAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTCAGAGAGCTCTTCCTTCCCTGGACCAGCGTGGGCAGCCTCGGTGGGTGGAAGAGTCCATGGGAAACTGCTCTTTTAGTTTTCTCTCAGGAAGAGCAATTATGGCCATGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGGAACCTTGAAGATGGACTCAGCTGTTGAAGGAGTTCGTGTCAGTTACCCACCTGCACTCCTCACCCTCCCGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTGGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGCAGGTTGGCGCACTGGAAGAGGAAAGGAATAGAAGAAACTTGTCATCCGGTCTTCCAGAGGAGACTAAACCTGGCTGGTTATTTCCTAGTGAAGGGGCCAGGAGCCCAGAATTGATGGTGAATGAGCTCTGACTCTTCCTATCTATTGTTTTTTTTTTTATTTTGCAGTTTTTGTCCAGTCTGGTTCATTTGACAAAAACTCATAACCCTTTTTGTGAACCACTCTGTGGGAGAATGTGGATATTTACTAATGGGAGACACTGCAGTGGACACATACACTGGAAGAAATGTACCTGCTGGTTTGTTTGGAGTGTTGTCTCCACAGTCAAATCAAGACCACTTATGATTACCTCATATAGATGCCACACTAACATACACAAAATTAAGACCATCCTGAAGTGAGGTGATGAGTCTTCACATGAGACTGCTGAGACCTTGCCTTCCTCCCCCTCAGAATCTCTCATCTACTGTTCTTTGTCCTTTGCCCTTCCTCTACTCTCTCTTTCACCTTGAGTCTTGAGCAGATTTGAAACAATGTTCCTTGTGCTTTCTTATCTGCCCTTTTCTTTTTCAATTTGTTCCTTTGCAGTTTCCAAGTCAGTCTTCCTATGGAAATAAATCCAATTCCTCTAGACCAAGCTTGTCCAACCTACAGCCCACAGGCCACATGCAGCCCAGGATGGCTTTAAATGCAGCCCAACACAAATTCTTAAACTTTCTGAATACATTATGAGGGTTTTTTCTTTTTCTTTTTCTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTATCGACTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCTTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCTCCACCATGCCCGGCTAATTTTTATGTATTTTTAATAGAGGCGGCGTTTCACCATGTTGGTCAGGCTTGTCTCTCACTCCTGACCTCATGATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGACAAGGCTGTATGTTTTGTTTTGTTTTGTTTTAGCTTATCAGCTATTGTTTGTATTAGTGTATTTTATGTGTGGCCCAAGATAGTTCTTCTTGTTCCACTGTGGTCCAGGGAAGCCAAAATACTGGACACTCCTGCTCTAAACCATGTTTTTGCAGCTCTGAGCATCGTGACTGGTTCTCTCATGTGTTTGTGTCATGCCATAGGTAGGATCTATGTCTCCTAAGCAGCAGGTACCCACTAAGGGTAGGAAATGATAGCCTCCTCTCCCTGGTTTTGATAAGTTCCAGGGGATTTTCCCTAATATAATGGTTGATGGCTGCCTGACGACCTGACAAGGAAATGCTTCTCTCCTCCATTGTCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGACCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGCATGTCATGAAGTGGACCTAAAGGCTTCTCCTCAAGAAACTTGAGGAAAAGTTGATATTATGTGGTTGGTGGATACTAAACACTGGAGTCACAGACCATCCTCATTATGGCACCACTGCCTGCCTAGTTTCTTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGCCAGCAATCAGGGTGAAGCTAAATGCAGAGATGACTATGTCCTTGTCTATGGTAGCTTTCCTCCTGCATTGGGTTCTT
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Task1_train_17860
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The gene KRT6A (keratin 6A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Pachyonychia congenita 3
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GACCTTGAACCTTATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCTTTCTGAATTTGTTCTATTTCCTCAGGATATATTTCTAGAAGTATAATTACGGTTCAGTGTATGCACATTTTAATTGTGCTTGATACATGTTGTCAGGCAAGTTTCTTGCTTATGAGGGCAATTATAATGATTAATCACATATCTGATTCTTTTGTCAAATAACTTGCTCTAGTTGGCCGAGAATATGTTTCTTAACTGGACAATTAGGCTGAGCCCTGGCGTAAGGGGAAAAGTGGTCCTGGAAACCAAGGCAGAGGGAATGGGATGCTAGTTCCTGGTATGGTCAGTTAAAACGGAGTGGACAATGCTGGTGGACCAGATGCCTCCCACTCCATTTGCCAAAAGTTCATATGGAATTTGATCTAGAAATACACTCTGAATGTCATGATACCAAGCTGAAGTTTGATGAACCTCTCTAAAGGAGGGGAGTTATGTGTATAAAGAATAGATTATCTTTTAAAAACAACTATTCACTTATCAGATAAAAAAGTTTAAGCCCAAAACTTTGGCCCCAAAGCAAGGCAAAGTAAAAGAATATATTGTATTATAAATCTGCTTTATTTAGCAATTGCAAACAGCGAAGAGCACAGAAATCATCACAGAGATACAGGCTTTGTACATCATAGGACTAGTCACTTGTGCTTTCATGGATACTGCCTGGGTGGGGGTTCACAACACTTATAAGTTAGAGAGTTTGAGAGCCAGTGGAAAGTAAGTGGAAGTTGTTCTGAAATAAGCCCCTGGCAATTTTCTGCAATGAAAAGGAGCAGAGGTCATTTTCTTATAATGCTCAGCCTCAGAGATAGAACACTGGAGGCAAGAAATTAATAATTTAGTAACAGTGAAGCTCCAGTGGTGATTACATCATGATGTAAAATCAGAGGTTGATCTGATGGTGAGCAATGGGTGCTCAGATGGTATAGAGAGAGAGAGAAGAAGTGAGGGCACTAAGCATCCATACCCAGCTCTACCTGGGACAGCAGGGGAGACTGGAGGCCAGGAGAGGAAAGGCAACCTGAGGAGAGGGCTCTGCAGCCAGAGAGGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAATGGCTCTGCCACTGCTGGAACTGAAGCCACCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACCACAGCTGTGATGGGGAGGGGACAAGGACACAAGAAGCCATGGTGAGCTCATCCTGTCAGCCTGAGCCCAGTCAGAAGAGTGCGAGGGCAGGGGAGGAAGGCAAGCAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTCAGAGAGCTCTTCCTTCCCTGGACCAGCGTGGGCAGCCTCGGTGGGTGGAAGAGTCCATGGGAAACTGCTCTTTTAGTTTTCTCTCAGGAAGAGCAATTATGGCCATGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGGAACCTTGAAGATGGACTCAGCTGTTGAAGGAGTTCGTGTCAGTTACCCACCTGCACTCCTCACCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTGGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGCAGGTTGGCGCACTGGAAGAGGAAAGGAATAGAAGAAACTTGTCATCCGGTCTTCCAGAGGAGACTAAACCTGGCTGGTTATTTCCTAGTGAAGGGGCCAGGAGCCCAGAATTGATGGTGAATGAGCTCTGACTCTTCCTATCTATTGTTTTTTTTTTTATTTTGCAGTTTTTGTCCAGTCTGGTTCATTTGACAAAAACTCATAACCCTTTTTGTGAACCACTCTGTGGGAGAATGTGGATATTTACTAATGGGAGACACTGCAGTGGACACATACACTGGAAGAAATGTACCTGCTGGTTTGTTTGGAGTGTTGTCTCCACAGTCAAATCAAGACCACTTATGATTACCTCATATAGATGCCACACTAACATACACAAAATTAAGACCATCCTGAAGTGAGGTGATGAGTCTTCACATGAGACTGCTGAGACCTTGCCTTCCTCCCCCTCAGAATCTCTCATCTACTGTTCTTTGTCCTTTGCCCTTCCTCTACTCTCTCTTTCACCTTGAGTCTTGAGCAGATTTGAAACAATGTTCCTTGTGCTTTCTTATCTGCCCTTTTCTTTTTCAATTTGTTCCTTTGCAGTTTCCAAGTCAGTCTTCCTATGGAAATAAATCCAATTCCTCTAGACCAAGCTTGTCCAACCTACAGCCCACAGGCCACATGCAGCCCAGGATGGCTTTAAATGCAGCCCAACACAAATTCTTAAACTTTCTGAATACATTATGAGGGTTTTTTCTTTTTCTTTTTCTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTATCGACTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCTTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCTCCACCATGCCCGGCTAATTTTTATGTATTTTTAATAGAGGCGGCGTTTCACCATGTTGGTCAGGCTTGTCTCTCACTCCTGACCTCATGATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGACAAGGCTGTATGTTTTGTTTTGTTTTGTTTTAGCTTATCAGCTATTGTTTGTATTAGTGTATTTTATGTGTGGCCCAAGATAGTTCTTCTTGTTCCACTGTGGTCCAGGGAAGCCAAAATACTGGACACTCCTGCTCTAAACCATGTTTTTGCAGCTCTGAGCATCGTGACTGGTTCTCTCATGTGTTTGTGTCATGCCATAGGTAGGATCTATGTCTCCTAAGCAGCAGGTACCCACTAAGGGTAGGAAATGATAGCCTCCTCTCCCTGGTTTTGATAAGTTCCAGGGGATTTTCCCTAATATAATGGTTGATGGCTGCCTGACGACCTGACAAGGAAATGCTTCTCTCCTCCATTGTCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGACCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGCATGTCATGAAGTGGACCTAAAGGCTTCTCCTCAAGAAACTTGAGGAAAAGTTGATATTATGTGGTTGGTGGATACTAAACACTGGAGTCACAGACCATCCTCATTATGGCACCACTGCCTGCCTAGTTTCTTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGCCAGCAATCAGGGTGAAGCTAAATGCAGAGATGACTATGTCCTTGTCTATGGTAGCTTTCCTCCTGCATTGGGTTCTT
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GACCTTGAACCTTATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCTTTCTGAATTTGTTCTATTTCCTCAGGATATATTTCTAGAAGTATAATTACGGTTCAGTGTATGCACATTTTAATTGTGCTTGATACATGTTGTCAGGCAAGTTTCTTGCTTATGAGGGCAATTATAATGATTAATCACATATCTGATTCTTTTGTCAAATAACTTGCTCTAGTTGGCCGAGAATATGTTTCTTAACTGGACAATTAGGCTGAGCCCTGGCGTAAGGGGAAAAGTGGTCCTGGAAACCAAGGCAGAGGGAATGGGATGCTAGTTCCTGGTATGGTCAGTTAAAACGGAGTGGACAATGCTGGTGGACCAGATGCCTCCCACTCCATTTGCCAAAAGTTCATATGGAATTTGATCTAGAAATACACTCTGAATGTCATGATACCAAGCTGAAGTTTGATGAACCTCTCTAAAGGAGGGGAGTTATGTGTATAAAGAATAGATTATCTTTTAAAAACAACTATTCACTTATCAGATAAAAAAGTTTAAGCCCAAAACTTTGGCCCCAAAGCAAGGCAAAGTAAAAGAATATATTGTATTATAAATCTGCTTTATTTAGCAATTGCAAACAGCGAAGAGCACAGAAATCATCACAGAGATACAGGCTTTGTACATCATAGGACTAGTCACTTGTGCTTTCATGGATACTGCCTGGGTGGGGGTTCACAACACTTATAAGTTAGAGAGTTTGAGAGCCAGTGGAAAGTAAGTGGAAGTTGTTCTGAAATAAGCCCCTGGCAATTTTCTGCAATGAAAAGGAGCAGAGGTCATTTTCTTATAATGCTCAGCCTCAGAGATAGAACACTGGAGGCAAGAAATTAATAATTTAGTAACAGTGAAGCTCCAGTGGTGATTACATCATGATGTAAAATCAGAGGTTGATCTGATGGTGAGCAATGGGTGCTCAGATGGTATAGAGAGAGAGAGAAGAAGTGAGGGCACTAAGCATCCATACCCAGCTCTACCTGGGACAGCAGGGGAGACTGGAGGCCAGGAGAGGAAAGGCAACCTGAGGAGAGGGCTCTGCAGCCAGAGAGGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAATGGCTCTGCCACTGCTGGAACTGAAGCCACCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACCACAGCTGTGATGGGGAGGGGACAAGGACACAAGAAGCCATGGTGAGCTCATCCTGTCAGCCTGAGCCCAGTCAGAAGAGTGCGAGGGCAGGGGAGGAAGGCAAGCAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTCAGAGAGCTCTTCCTTCCCTGGACCAGCGTGGGCAGCCTCGGTGGGTGGAAGAGTCCATGGGAAACTGCTCTTTTAGTTTTCTCTCAGGAAGAGCAATTATGGCCATGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGGAACCTTGAAGATGGACTCAGCTGTTGAAGGAGTTCGTGTCAGTTACCCACCTGCACTCCTCACCCTCCGGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTGGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGCAGGTTGGCGCACTGGAAGAGGAAAGGAATAGAAGAAACTTGTCATCCGGTCTTCCAGAGGAGACTAAACCTGGCTGGTTATTTCCTAGTGAAGGGGCCAGGAGCCCAGAATTGATGGTGAATGAGCTCTGACTCTTCCTATCTATTGTTTTTTTTTTTATTTTGCAGTTTTTGTCCAGTCTGGTTCATTTGACAAAAACTCATAACCCTTTTTGTGAACCACTCTGTGGGAGAATGTGGATATTTACTAATGGGAGACACTGCAGTGGACACATACACTGGAAGAAATGTACCTGCTGGTTTGTTTGGAGTGTTGTCTCCACAGTCAAATCAAGACCACTTATGATTACCTCATATAGATGCCACACTAACATACACAAAATTAAGACCATCCTGAAGTGAGGTGATGAGTCTTCACATGAGACTGCTGAGACCTTGCCTTCCTCCCCCTCAGAATCTCTCATCTACTGTTCTTTGTCCTTTGCCCTTCCTCTACTCTCTCTTTCACCTTGAGTCTTGAGCAGATTTGAAACAATGTTCCTTGTGCTTTCTTATCTGCCCTTTTCTTTTTCAATTTGTTCCTTTGCAGTTTCCAAGTCAGTCTTCCTATGGAAATAAATCCAATTCCTCTAGACCAAGCTTGTCCAACCTACAGCCCACAGGCCACATGCAGCCCAGGATGGCTTTAAATGCAGCCCAACACAAATTCTTAAACTTTCTGAATACATTATGAGGGTTTTTTCTTTTTCTTTTTCTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTATCGACTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCTTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCTCCACCATGCCCGGCTAATTTTTATGTATTTTTAATAGAGGCGGCGTTTCACCATGTTGGTCAGGCTTGTCTCTCACTCCTGACCTCATGATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGACAAGGCTGTATGTTTTGTTTTGTTTTGTTTTAGCTTATCAGCTATTGTTTGTATTAGTGTATTTTATGTGTGGCCCAAGATAGTTCTTCTTGTTCCACTGTGGTCCAGGGAAGCCAAAATACTGGACACTCCTGCTCTAAACCATGTTTTTGCAGCTCTGAGCATCGTGACTGGTTCTCTCATGTGTTTGTGTCATGCCATAGGTAGGATCTATGTCTCCTAAGCAGCAGGTACCCACTAAGGGTAGGAAATGATAGCCTCCTCTCCCTGGTTTTGATAAGTTCCAGGGGATTTTCCCTAATATAATGGTTGATGGCTGCCTGACGACCTGACAAGGAAATGCTTCTCTCCTCCATTGTCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGACCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGCATGTCATGAAGTGGACCTAAAGGCTTCTCCTCAAGAAACTTGAGGAAAAGTTGATATTATGTGGTTGGTGGATACTAAACACTGGAGTCACAGACCATCCTCATTATGGCACCACTGCCTGCCTAGTTTCTTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGCCAGCAATCAGGGTGAAGCTAAATGCAGAGATGACTATGTCCTTGTCTATGGTAGCTTTCCTCCTGCATTGGGTTCTT
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Task1_train_17861
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This alteration occurs within gene KRT6A (keratin 6A) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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ATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCTTTCTGAATTTGTTCTATTTCCTCAGGATATATTTCTAGAAGTATAATTACGGTTCAGTGTATGCACATTTTAATTGTGCTTGATACATGTTGTCAGGCAAGTTTCTTGCTTATGAGGGCAATTATAATGATTAATCACATATCTGATTCTTTTGTCAAATAACTTGCTCTAGTTGGCCGAGAATATGTTTCTTAACTGGACAATTAGGCTGAGCCCTGGCGTAAGGGGAAAAGTGGTCCTGGAAACCAAGGCAGAGGGAATGGGATGCTAGTTCCTGGTATGGTCAGTTAAAACGGAGTGGACAATGCTGGTGGACCAGATGCCTCCCACTCCATTTGCCAAAAGTTCATATGGAATTTGATCTAGAAATACACTCTGAATGTCATGATACCAAGCTGAAGTTTGATGAACCTCTCTAAAGGAGGGGAGTTATGTGTATAAAGAATAGATTATCTTTTAAAAACAACTATTCACTTATCAGATAAAAAAGTTTAAGCCCAAAACTTTGGCCCCAAAGCAAGGCAAAGTAAAAGAATATATTGTATTATAAATCTGCTTTATTTAGCAATTGCAAACAGCGAAGAGCACAGAAATCATCACAGAGATACAGGCTTTGTACATCATAGGACTAGTCACTTGTGCTTTCATGGATACTGCCTGGGTGGGGGTTCACAACACTTATAAGTTAGAGAGTTTGAGAGCCAGTGGAAAGTAAGTGGAAGTTGTTCTGAAATAAGCCCCTGGCAATTTTCTGCAATGAAAAGGAGCAGAGGTCATTTTCTTATAATGCTCAGCCTCAGAGATAGAACACTGGAGGCAAGAAATTAATAATTTAGTAACAGTGAAGCTCCAGTGGTGATTACATCATGATGTAAAATCAGAGGTTGATCTGATGGTGAGCAATGGGTGCTCAGATGGTATAGAGAGAGAGAGAAGAAGTGAGGGCACTAAGCATCCATACCCAGCTCTACCTGGGACAGCAGGGGAGACTGGAGGCCAGGAGAGGAAAGGCAACCTGAGGAGAGGGCTCTGCAGCCAGAGAGGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAATGGCTCTGCCACTGCTGGAACTGAAGCCACCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACCACAGCTGTGATGGGGAGGGGACAAGGACACAAGAAGCCATGGTGAGCTCATCCTGTCAGCCTGAGCCCAGTCAGAAGAGTGCGAGGGCAGGGGAGGAAGGCAAGCAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTCAGAGAGCTCTTCCTTCCCTGGACCAGCGTGGGCAGCCTCGGTGGGTGGAAGAGTCCATGGGAAACTGCTCTTTTAGTTTTCTCTCAGGAAGAGCAATTATGGCCATGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGGAACCTTGAAGATGGACTCAGCTGTTGAAGGAGTTCGTGTCAGTTACCCACCTGCACTCCTCACCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTGGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGCAGGTTGGCGCACTGGAAGAGGAAAGGAATAGAAGAAACTTGTCATCCGGTCTTCCAGAGGAGACTAAACCTGGCTGGTTATTTCCTAGTGAAGGGGCCAGGAGCCCAGAATTGATGGTGAATGAGCTCTGACTCTTCCTATCTATTGTTTTTTTTTTTATTTTGCAGTTTTTGTCCAGTCTGGTTCATTTGACAAAAACTCATAACCCTTTTTGTGAACCACTCTGTGGGAGAATGTGGATATTTACTAATGGGAGACACTGCAGTGGACACATACACTGGAAGAAATGTACCTGCTGGTTTGTTTGGAGTGTTGTCTCCACAGTCAAATCAAGACCACTTATGATTACCTCATATAGATGCCACACTAACATACACAAAATTAAGACCATCCTGAAGTGAGGTGATGAGTCTTCACATGAGACTGCTGAGACCTTGCCTTCCTCCCCCTCAGAATCTCTCATCTACTGTTCTTTGTCCTTTGCCCTTCCTCTACTCTCTCTTTCACCTTGAGTCTTGAGCAGATTTGAAACAATGTTCCTTGTGCTTTCTTATCTGCCCTTTTCTTTTTCAATTTGTTCCTTTGCAGTTTCCAAGTCAGTCTTCCTATGGAAATAAATCCAATTCCTCTAGACCAAGCTTGTCCAACCTACAGCCCACAGGCCACATGCAGCCCAGGATGGCTTTAAATGCAGCCCAACACAAATTCTTAAACTTTCTGAATACATTATGAGGGTTTTTTCTTTTTCTTTTTCTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTATCGACTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCTTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCTCCACCATGCCCGGCTAATTTTTATGTATTTTTAATAGAGGCGGCGTTTCACCATGTTGGTCAGGCTTGTCTCTCACTCCTGACCTCATGATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGACAAGGCTGTATGTTTTGTTTTGTTTTGTTTTAGCTTATCAGCTATTGTTTGTATTAGTGTATTTTATGTGTGGCCCAAGATAGTTCTTCTTGTTCCACTGTGGTCCAGGGAAGCCAAAATACTGGACACTCCTGCTCTAAACCATGTTTTTGCAGCTCTGAGCATCGTGACTGGTTCTCTCATGTGTTTGTGTCATGCCATAGGTAGGATCTATGTCTCCTAAGCAGCAGGTACCCACTAAGGGTAGGAAATGATAGCCTCCTCTCCCTGGTTTTGATAAGTTCCAGGGGATTTTCCCTAATATAATGGTTGATGGCTGCCTGACGACCTGACAAGGAAATGCTTCTCTCCTCCATTGTCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGACCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGCATGTCATGAAGTGGACCTAAAGGCTTCTCCTCAAGAAACTTGAGGAAAAGTTGATATTATGTGGTTGGTGGATACTAAACACTGGAGTCACAGACCATCCTCATTATGGCACCACTGCCTGCCTAGTTTCTTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGCCAGCAATCAGGGTGAAGCTAAATGCAGAGATGACTATGTCCTTGTCTATGGTAGCTTTCCTCCTGCATTGGGTTCTTTTTCCTTCTTGAC
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ATTCTGAGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCTTTCTGAATTTGTTCTATTTCCTCAGGATATATTTCTAGAAGTATAATTACGGTTCAGTGTATGCACATTTTAATTGTGCTTGATACATGTTGTCAGGCAAGTTTCTTGCTTATGAGGGCAATTATAATGATTAATCACATATCTGATTCTTTTGTCAAATAACTTGCTCTAGTTGGCCGAGAATATGTTTCTTAACTGGACAATTAGGCTGAGCCCTGGCGTAAGGGGAAAAGTGGTCCTGGAAACCAAGGCAGAGGGAATGGGATGCTAGTTCCTGGTATGGTCAGTTAAAACGGAGTGGACAATGCTGGTGGACCAGATGCCTCCCACTCCATTTGCCAAAAGTTCATATGGAATTTGATCTAGAAATACACTCTGAATGTCATGATACCAAGCTGAAGTTTGATGAACCTCTCTAAAGGAGGGGAGTTATGTGTATAAAGAATAGATTATCTTTTAAAAACAACTATTCACTTATCAGATAAAAAAGTTTAAGCCCAAAACTTTGGCCCCAAAGCAAGGCAAAGTAAAAGAATATATTGTATTATAAATCTGCTTTATTTAGCAATTGCAAACAGCGAAGAGCACAGAAATCATCACAGAGATACAGGCTTTGTACATCATAGGACTAGTCACTTGTGCTTTCATGGATACTGCCTGGGTGGGGGTTCACAACACTTATAAGTTAGAGAGTTTGAGAGCCAGTGGAAAGTAAGTGGAAGTTGTTCTGAAATAAGCCCCTGGCAATTTTCTGCAATGAAAAGGAGCAGAGGTCATTTTCTTATAATGCTCAGCCTCAGAGATAGAACACTGGAGGCAAGAAATTAATAATTTAGTAACAGTGAAGCTCCAGTGGTGATTACATCATGATGTAAAATCAGAGGTTGATCTGATGGTGAGCAATGGGTGCTCAGATGGTATAGAGAGAGAGAGAAGAAGTGAGGGCACTAAGCATCCATACCCAGCTCTACCTGGGACAGCAGGGGAGACTGGAGGCCAGGAGAGGAAAGGCAACCTGAGGAGAGGGCTCTGCAGCCAGAGAGGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAATGGCTCTGCCACTGCTGGAACTGAAGCCACCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACCACAGCTGTGATGGGGAGGGGACAAGGACACAAGAAGCCATGGTGAGCTCATCCTGTCAGCCTGAGCCCAGTCAGAAGAGTGCGAGGGCAGGGGAGGAAGGCAAGCAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTCAGAGAGCTCTTCCTTCCCTGGACCAGCGTGGGCAGCCTCGGTGGGTGGAAGAGTCCATGGGAAACTGCTCTTTTAGTTTTCTCTCAGGAAGAGCAATTATGGCCATGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGGAACCTTGAAGATGGACTCAGCTGTTGAAGGAGTTCGTGTCAGTTACCCACCTGCACTCCTCACCCTCCAGCAGCTTGCGGTGGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTGGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGCAGGTTGGCGCACTGGAAGAGGAAAGGAATAGAAGAAACTTGTCATCCGGTCTTCCAGAGGAGACTAAACCTGGCTGGTTATTTCCTAGTGAAGGGGCCAGGAGCCCAGAATTGATGGTGAATGAGCTCTGACTCTTCCTATCTATTGTTTTTTTTTTTATTTTGCAGTTTTTGTCCAGTCTGGTTCATTTGACAAAAACTCATAACCCTTTTTGTGAACCACTCTGTGGGAGAATGTGGATATTTACTAATGGGAGACACTGCAGTGGACACATACACTGGAAGAAATGTACCTGCTGGTTTGTTTGGAGTGTTGTCTCCACAGTCAAATCAAGACCACTTATGATTACCTCATATAGATGCCACACTAACATACACAAAATTAAGACCATCCTGAAGTGAGGTGATGAGTCTTCACATGAGACTGCTGAGACCTTGCCTTCCTCCCCCTCAGAATCTCTCATCTACTGTTCTTTGTCCTTTGCCCTTCCTCTACTCTCTCTTTCACCTTGAGTCTTGAGCAGATTTGAAACAATGTTCCTTGTGCTTTCTTATCTGCCCTTTTCTTTTTCAATTTGTTCCTTTGCAGTTTCCAAGTCAGTCTTCCTATGGAAATAAATCCAATTCCTCTAGACCAAGCTTGTCCAACCTACAGCCCACAGGCCACATGCAGCCCAGGATGGCTTTAAATGCAGCCCAACACAAATTCTTAAACTTTCTGAATACATTATGAGGGTTTTTTCTTTTTCTTTTTCTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTATCGACTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCTTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCTCCACCATGCCCGGCTAATTTTTATGTATTTTTAATAGAGGCGGCGTTTCACCATGTTGGTCAGGCTTGTCTCTCACTCCTGACCTCATGATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGACAAGGCTGTATGTTTTGTTTTGTTTTGTTTTAGCTTATCAGCTATTGTTTGTATTAGTGTATTTTATGTGTGGCCCAAGATAGTTCTTCTTGTTCCACTGTGGTCCAGGGAAGCCAAAATACTGGACACTCCTGCTCTAAACCATGTTTTTGCAGCTCTGAGCATCGTGACTGGTTCTCTCATGTGTTTGTGTCATGCCATAGGTAGGATCTATGTCTCCTAAGCAGCAGGTACCCACTAAGGGTAGGAAATGATAGCCTCCTCTCCCTGGTTTTGATAAGTTCCAGGGGATTTTCCCTAATATAATGGTTGATGGCTGCCTGACGACCTGACAAGGAAATGCTTCTCTCCTCCATTGTCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGACCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGCATGTCATGAAGTGGACCTAAAGGCTTCTCCTCAAGAAACTTGAGGAAAAGTTGATATTATGTGGTTGGTGGATACTAAACACTGGAGTCACAGACCATCCTCATTATGGCACCACTGCCTGCCTAGTTTCTTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGCCAGCAATCAGGGTGAAGCTAAATGCAGAGATGACTATGTCCTTGTCTATGGTAGCTTTCCTCCTGCATTGGGTTCTTTTTCCTTCTTGAC
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Task1_train_17862
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Located on Chromosome 12, this mutation impacts KRT6A (keratin 6A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not provided
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AGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCTTTCTGAATTTGTTCTATTTCCTCAGGATATATTTCTAGAAGTATAATTACGGTTCAGTGTATGCACATTTTAATTGTGCTTGATACATGTTGTCAGGCAAGTTTCTTGCTTATGAGGGCAATTATAATGATTAATCACATATCTGATTCTTTTGTCAAATAACTTGCTCTAGTTGGCCGAGAATATGTTTCTTAACTGGACAATTAGGCTGAGCCCTGGCGTAAGGGGAAAAGTGGTCCTGGAAACCAAGGCAGAGGGAATGGGATGCTAGTTCCTGGTATGGTCAGTTAAAACGGAGTGGACAATGCTGGTGGACCAGATGCCTCCCACTCCATTTGCCAAAAGTTCATATGGAATTTGATCTAGAAATACACTCTGAATGTCATGATACCAAGCTGAAGTTTGATGAACCTCTCTAAAGGAGGGGAGTTATGTGTATAAAGAATAGATTATCTTTTAAAAACAACTATTCACTTATCAGATAAAAAAGTTTAAGCCCAAAACTTTGGCCCCAAAGCAAGGCAAAGTAAAAGAATATATTGTATTATAAATCTGCTTTATTTAGCAATTGCAAACAGCGAAGAGCACAGAAATCATCACAGAGATACAGGCTTTGTACATCATAGGACTAGTCACTTGTGCTTTCATGGATACTGCCTGGGTGGGGGTTCACAACACTTATAAGTTAGAGAGTTTGAGAGCCAGTGGAAAGTAAGTGGAAGTTGTTCTGAAATAAGCCCCTGGCAATTTTCTGCAATGAAAAGGAGCAGAGGTCATTTTCTTATAATGCTCAGCCTCAGAGATAGAACACTGGAGGCAAGAAATTAATAATTTAGTAACAGTGAAGCTCCAGTGGTGATTACATCATGATGTAAAATCAGAGGTTGATCTGATGGTGAGCAATGGGTGCTCAGATGGTATAGAGAGAGAGAGAAGAAGTGAGGGCACTAAGCATCCATACCCAGCTCTACCTGGGACAGCAGGGGAGACTGGAGGCCAGGAGAGGAAAGGCAACCTGAGGAGAGGGCTCTGCAGCCAGAGAGGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAATGGCTCTGCCACTGCTGGAACTGAAGCCACCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACCACAGCTGTGATGGGGAGGGGACAAGGACACAAGAAGCCATGGTGAGCTCATCCTGTCAGCCTGAGCCCAGTCAGAAGAGTGCGAGGGCAGGGGAGGAAGGCAAGCAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTCAGAGAGCTCTTCCTTCCCTGGACCAGCGTGGGCAGCCTCGGTGGGTGGAAGAGTCCATGGGAAACTGCTCTTTTAGTTTTCTCTCAGGAAGAGCAATTATGGCCATGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGGAACCTTGAAGATGGACTCAGCTGTTGAAGGAGTTCGTGTCAGTTACCCACCTGCACTCCTCACCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTGGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGCAGGTTGGCGCACTGGAAGAGGAAAGGAATAGAAGAAACTTGTCATCCGGTCTTCCAGAGGAGACTAAACCTGGCTGGTTATTTCCTAGTGAAGGGGCCAGGAGCCCAGAATTGATGGTGAATGAGCTCTGACTCTTCCTATCTATTGTTTTTTTTTTTATTTTGCAGTTTTTGTCCAGTCTGGTTCATTTGACAAAAACTCATAACCCTTTTTGTGAACCACTCTGTGGGAGAATGTGGATATTTACTAATGGGAGACACTGCAGTGGACACATACACTGGAAGAAATGTACCTGCTGGTTTGTTTGGAGTGTTGTCTCCACAGTCAAATCAAGACCACTTATGATTACCTCATATAGATGCCACACTAACATACACAAAATTAAGACCATCCTGAAGTGAGGTGATGAGTCTTCACATGAGACTGCTGAGACCTTGCCTTCCTCCCCCTCAGAATCTCTCATCTACTGTTCTTTGTCCTTTGCCCTTCCTCTACTCTCTCTTTCACCTTGAGTCTTGAGCAGATTTGAAACAATGTTCCTTGTGCTTTCTTATCTGCCCTTTTCTTTTTCAATTTGTTCCTTTGCAGTTTCCAAGTCAGTCTTCCTATGGAAATAAATCCAATTCCTCTAGACCAAGCTTGTCCAACCTACAGCCCACAGGCCACATGCAGCCCAGGATGGCTTTAAATGCAGCCCAACACAAATTCTTAAACTTTCTGAATACATTATGAGGGTTTTTTCTTTTTCTTTTTCTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTATCGACTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCTTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCTCCACCATGCCCGGCTAATTTTTATGTATTTTTAATAGAGGCGGCGTTTCACCATGTTGGTCAGGCTTGTCTCTCACTCCTGACCTCATGATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGACAAGGCTGTATGTTTTGTTTTGTTTTGTTTTAGCTTATCAGCTATTGTTTGTATTAGTGTATTTTATGTGTGGCCCAAGATAGTTCTTCTTGTTCCACTGTGGTCCAGGGAAGCCAAAATACTGGACACTCCTGCTCTAAACCATGTTTTTGCAGCTCTGAGCATCGTGACTGGTTCTCTCATGTGTTTGTGTCATGCCATAGGTAGGATCTATGTCTCCTAAGCAGCAGGTACCCACTAAGGGTAGGAAATGATAGCCTCCTCTCCCTGGTTTTGATAAGTTCCAGGGGATTTTCCCTAATATAATGGTTGATGGCTGCCTGACGACCTGACAAGGAAATGCTTCTCTCCTCCATTGTCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGACCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGCATGTCATGAAGTGGACCTAAAGGCTTCTCCTCAAGAAACTTGAGGAAAAGTTGATATTATGTGGTTGGTGGATACTAAACACTGGAGTCACAGACCATCCTCATTATGGCACCACTGCCTGCCTAGTTTCTTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGCCAGCAATCAGGGTGAAGCTAAATGCAGAGATGACTATGTCCTTGTCTATGGTAGCTTTCCTCCTGCATTGGGTTCTTTTTCCTTCTTGACTTGGGC
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AGTTTTCCCTTCTCCATTCATAGAAGTTAAACCAGGACAGTTCACACCAAAGAGAAGAATAGGACCATCTCTTCTGAGCAACATGGATTTGGTTTCTTTGGATCTCTATCAGAGCCTTAGGCTTGCTATCTGTGGATCTCTAACAGAGCCTTCTCCTATGAGAAGGAGGACATTTTTTTCTTCTACTGTCTTCACTCTTCAAGGAATAAGCATCTGAGTTTTGGCCTGAGTCTTTGAGCTCTTAATTTGACCAACTCGAATGTCTCCAACTTTTCCCTGTTGTGAAGATTCTTGTGATGCACATCTGTGTGCATACACCTTTCTGAATTTGTTCTATTTCCTCAGGATATATTTCTAGAAGTATAATTACGGTTCAGTGTATGCACATTTTAATTGTGCTTGATACATGTTGTCAGGCAAGTTTCTTGCTTATGAGGGCAATTATAATGATTAATCACATATCTGATTCTTTTGTCAAATAACTTGCTCTAGTTGGCCGAGAATATGTTTCTTAACTGGACAATTAGGCTGAGCCCTGGCGTAAGGGGAAAAGTGGTCCTGGAAACCAAGGCAGAGGGAATGGGATGCTAGTTCCTGGTATGGTCAGTTAAAACGGAGTGGACAATGCTGGTGGACCAGATGCCTCCCACTCCATTTGCCAAAAGTTCATATGGAATTTGATCTAGAAATACACTCTGAATGTCATGATACCAAGCTGAAGTTTGATGAACCTCTCTAAAGGAGGGGAGTTATGTGTATAAAGAATAGATTATCTTTTAAAAACAACTATTCACTTATCAGATAAAAAAGTTTAAGCCCAAAACTTTGGCCCCAAAGCAAGGCAAAGTAAAAGAATATATTGTATTATAAATCTGCTTTATTTAGCAATTGCAAACAGCGAAGAGCACAGAAATCATCACAGAGATACAGGCTTTGTACATCATAGGACTAGTCACTTGTGCTTTCATGGATACTGCCTGGGTGGGGGTTCACAACACTTATAAGTTAGAGAGTTTGAGAGCCAGTGGAAAGTAAGTGGAAGTTGTTCTGAAATAAGCCCCTGGCAATTTTCTGCAATGAAAAGGAGCAGAGGTCATTTTCTTATAATGCTCAGCCTCAGAGATAGAACACTGGAGGCAAGAAATTAATAATTTAGTAACAGTGAAGCTCCAGTGGTGATTACATCATGATGTAAAATCAGAGGTTGATCTGATGGTGAGCAATGGGTGCTCAGATGGTATAGAGAGAGAGAGAAGAAGTGAGGGCACTAAGCATCCATACCCAGCTCTACCTGGGACAGCAGGGGAGACTGGAGGCCAGGAGAGGAAAGGCAACCTGAGGAGAGGGCTCTGCAGCCAGAGAGGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTCCTGCTGGAGGAGGAGGTGGTGGTGTACTTGATGGTGGAACTGCCGCCTCCAACAGAGCTGAGGCCACCCCCAATGGCTCTGCCACTGCTGGAACTGAAGCCACCTCCAACGCCAAGACCACTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACCGCCATAGCCACTGGAGACGGTGGACTGCACCACAGCTGTGATGGGGAGGGGACAAGGACACAAGAAGCCATGGTGAGCTCATCCTGTCAGCCTGAGCCCAGTCAGAAGAGTGCGAGGGCAGGGGAGGAAGGCAAGCAAAGGTACTTACAGATGTTGACTTGTCCAACGCCTTCGCCATTCAGCCTGTGGAGAGGAACACAGGGAGGGTGAGACCTCAGAGAGCTCTTCCTTCCCTGGACCAGCGTGGGCAGCCTCGGTGGGTGGAAGAGTCCATGGGAAACTGCTCTTTTAGTTTTCTCTCAGGAAGAGCAATTATGGCCATGGGCAGTGCACCTTAAAGTTGTGCTCAGTGCCAGGAACCTTGAAGATGGACTCAGCTGTTGAAGGAGTTCGTGTCAGTTACCCACCTGCACTCCTCACCCTCCAGCAGCTTGCGGTAGGTGGGGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTACTCCTTCAGCAGCCGGGCCAGGTCCTGCTTGGCCTTCTGCAGGGCATCCTCCAGCCCTTCCAGCTTGTTCTTGGCATCCTTGAGGGCCATCTCCCCACGCTGCTCAGCATCAGCAATGGCGGCCTGCAGGTTGGCGCACTGGAAGAGGAAAGGAATAGAAGAAACTTGTCATCCGGTCTTCCAGAGGAGACTAAACCTGGCTGGTTATTTCCTAGTGAAGGGGCCAGGAGCCCAGAATTGATGGTGAATGAGCTCTGACTCTTCCTATCTATTGTTTTTTTTTTTATTTTGCAGTTTTTGTCCAGTCTGGTTCATTTGACAAAAACTCATAACCCTTTTTGTGAACCACTCTGTGGGAGAATGTGGATATTTACTAATGGGAGACACTGCAGTGGACACATACACTGGAAGAAATGTACCTGCTGGTTTGTTTGGAGTGTTGTCTCCACAGTCAAATCAAGACCACTTATGATTACCTCATATAGATGCCACACTAACATACACAAAATTAAGACCATCCTGAAGTGAGGTGATGAGTCTTCACATGAGACTGCTGAGACCTTGCCTTCCTCCCCCTCAGAATCTCTCATCTACTGTTCTTTGTCCTTTGCCCTTCCTCTACTCTCTCTTTCACCTTGAGTCTTGAGCAGATTTGAAACAATGTTCCTTGTGCTTTCTTATCTGCCCTTTTCTTTTTCAATTTGTTCCTTTGCAGTTTCCAAGTCAGTCTTCCTATGGAAATAAATCCAATTCCTCTAGACCAAGCTTGTCCAACCTACAGCCCACAGGCCACATGCAGCCCAGGATGGCTTTAAATGCAGCCCAACACAAATTCTTAAACTTTCTGAATACATTATGAGGGTTTTTTCTTTTTCTTTTTCTTTTTGAGACAGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTATCGACTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATTCTCCTGCTTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCTCCACCATGCCCGGCTAATTTTTATGTATTTTTAATAGAGGCGGCGTTTCACCATGTTGGTCAGGCTTGTCTCTCACTCCTGACCTCATGATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGACAAGGCTGTATGTTTTGTTTTGTTTTGTTTTAGCTTATCAGCTATTGTTTGTATTAGTGTATTTTATGTGTGGCCCAAGATAGTTCTTCTTGTTCCACTGTGGTCCAGGGAAGCCAAAATACTGGACACTCCTGCTCTAAACCATGTTTTTGCAGCTCTGAGCATCGTGACTGGTTCTCTCATGTGTTTGTGTCATGCCATAGGTAGGATCTATGTCTCCTAAGCAGCAGGTACCCACTAAGGGTAGGAAATGATAGCCTCCTCTCCCTGGTTTTGATAAGTTCCAGGGGATTTTCCCTAATATAATGGTTGATGGCTGCCTGACGACCTGACAAGGAAATGCTTCTCTCCTCCATTGTCCCTCACCATACCTGCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGCGCAGGTCGTCCCCATGTCTGCCTGCTGTGACCTGCAGCTCCTCGTACTGCAGCCCAGAGGTGGAGAGAGAGACAGTGTCTACGGGTTCTTACCTGGGAGCGATGACTTTCACTTGTGTATCATGCATGTCATGAAGTGGACCTAAAGGCTTCTCCTCAAGAAACTTGAGGAAAAGTTGATATTATGTGGTTGGTGGATACTAAACACTGGAGTCACAGACCATCCTCATTATGGCACCACTGCCTGCCTAGTTTCTTTAGGGAGTAGAAATGTTCTGTACCAATTTCTAAAAGCCAGCAATCAGGGTGAAGCTAAATGCAGAGATGACTATGTCCTTGTCTATGGTAGCTTTCCTCCTGCATTGGGTTCTTTTTCCTTCTTGACTTGGGC
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Task1_train_17863
|
This sequence variant lies in KRT6A (keratin 6A) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Pachyonychia congenita 3
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CTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCT
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CTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAGACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCT
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Task1_train_17864
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The gene KRT6A (keratin 6A) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Pachyonychia congenita 3
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TCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTC
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TCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAACCTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTC
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Task1_train_17865
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Consider this mutation in KRT6A (keratin 6A) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Pachyonychia congenita 3
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GGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTG
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GGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTTTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTG
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Task1_train_17866
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A mutation found in KRT6A (keratin 6A) 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; Pachyonychia congenita 3
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GGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGG
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GGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGCTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGG
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Task1_train_17867
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Gene KRT6A (keratin 6A), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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GCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGT
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GCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTCGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGT
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Task1_train_17868
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Here is a variant affecting KRT6A (keratin 6A) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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GCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGT
|
GCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTGGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGT
|
Task1_train_17869
|
A variant has been detected on Chromosome 12 in KRT6A (keratin 6A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; not provided
|
TTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGTTGC
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TTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAAGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGTTGC
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Task1_train_17870
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Gene KRT6A (keratin 6A) 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; not provided
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CTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGTTGCACAATGGTTGACCAAGAA
|
CTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACACTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGTTGCACAATGGTTGACCAAGAA
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Task1_train_17871
|
A variant found in Chromosome 12 affects KRT6A (keratin 6A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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TCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTCCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGTTGCACAATGGTTGACCAAGAATGT
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TCCAGGTCCAGGTTGCGGTTGTTGTCCATGGACAGCACCACAGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCCGATATTTACAGAGATACCCAACCCTATACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGATGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCGTCTGTGAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGTTCATGTAGGCAGCATCCACATCCTGGGGAAAGAGCCAACAACCTGGAGTTACCTGAGCTCACCTTTCCAATCTACCCATCTTCTAGTCTCCATGCCAATTCTCCTCTCCCAGGGGAGCGAGGACACAAAGCCACTTCTCTCCTTCTAAATGAATTTGAACCCCCGGCTTCATCTGCTCACCTTCTTCAGAGTCACAAATTCATTCTCTGCTGCTGTGCGCTTGTTGATTTCATCCTCATATCTACAGGAAGAAAGGCATGGGACACATTTGAGCCAGTGGGTAGGATGAAACAGAAAAGCAGCCTGGGATTCAACATTTTCCCGAATGGAATATATTCTAATTGGGCTTTCCTGCCACAGAGAGCCTAAGAGACGATTTTTGCTTCTGCTAAATTTGCCACTTCTTTAATCTCCCCATCCTCCCATAACCATCTGTGGTTCTTGCAGGTTTGCTCCTAGGGACTAATTTGTGCTCTTCATTTCCACGGACATGGGTTGTTAGGAATATTACCCCCTTCTGGCCCTGGTCACCCAATAGTCTTGAAGTGTGTGCTGCAGGAAACTGAGTCCATTTCTCCTGTTTAACTCACTTGTTCTTGAAGTCCTCCACCAGGTCCTGCATGCCTCTGAGCTCTGAGTCCAGGCGGCCCCGTTCCCCGACAATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTTGTTTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGAAAGAGAGACAAGATGATCATTTTCCAGGCAAGGGAAGGAAGAAAAAGTGTCTGGTATCCGGTTTCCTGGCAGGTCCGGGAGGTTCCCATGGTGCTGGGCTACTACAGTGCATGTAGAGAGGCTCAGGCTGAGCTCTGCTCCCCCAACCCCTTCTCCTTTGTACCCCACCAATCTCACTAGAGGAATTGTCCCACGGACCATTCAGGTGTTCTCACTCTCTAAGTTATTGGACATATTAATGAGTTTCAACATGTCTTTTCCTTCTTTTCCCAGCCAAAATTACAAACATAGTTATAAAATAGTATTCATCTGATAAATTTTACACAGTTTTTATTACTGATAGGACCTCAGTTAGAAGAGATGTTAAATGTTGCCCAATGATTTGATTCCCGTCTTATTTCCCATTTGTGCAAGTCTCTCCTCTAAAACATCCTGATGTTATGGTCATTCTTTGTTTTGAGGATTAATTAACATTTCCACATAACGTATAAACGTTTTAAGTCTTTTTTTTCTTAATCTAGCCAAAATATCCTTTCTTTTGTTTCCAATATTTTTTCCTCTTATCCAGACCCCAGAGTGTAATTTACCAGCCCGTGTACTCCTGGCATTTTCTTTGACGCTTCAAAGGGAAGAGTTAACCTACTCCATTCTCTGATGGCCTCATCTGTGCTTCAGGGTTATGAAAAGTTATGGTTCTCCCTAGGCAGGAGTGAGGGCCACTCCAGAGATCCCATGGGGGAGTGATGCCCATCCCTGCTGCTTGCTGGGCACCAGCAGCCATCTGCACTCTCTGCAGAGCTGGGCTGAGTCCTCTTCTCCCTCCCTCCTAGGTCTCCCTGGCAGGAAGGTGTTGCTCCTCTGGTCTGGGGACCCTGAAGTGCCCCATGGAGGGCATGGCACTGGCTCACCTTGTCGATGAAGGAGGCAAACTTGTTGTTGAGGGTCTTGATCTGTTCACGCTTCTCAGCCCGCACCCGCTGGATGGTGGGATCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACGGTGACCTCTTGGATGCCTCCAGGGGGGCACACAGGGAAGCCAGGGCCCCCAAAGCCACCAGCAAGGCCGGCTCCACCACCCAGACCAAAGCCAATGCCGGCTCCACCACCGAAACCAAATCCACTCCCGGCGCCACCAAAGCCATAGCTGCCTCCGGCTCTGCTGCCATAGCCGCCACTGATGGCACAGCTGCCCCCTCCAATGGAGATCCTCTTGGAGCCCCCCAGGCCATACAGACTGCGGCTGCCAAAGCCAGCTCCTCCACATGCACCACCCAGGCCACCACTGCCCCTGGAGCGGGACACGGAGACGCTGCTGAAGCCAGAGCGGCTGACCCCAGGGAGCCTGGCTGAGTTGGCACTGAAACCCCGGCGGCTGCTGCTGTGGCTCCTGATGGTGGTGGATGTGCTGGCCATGGTTCCAGGAGATGAGAGAGCTGAGGAGAGTGTGAGAGGCTGGAGGAGAGAGGGAAGAGAAGCAGGACTAGGAATCAGGCTCGGGGCAGCAGCTTATATATGGAGAGCATGGGCTGGGCCCAGTCCTGGAAGGTGAGCTTGCAGGTTGGGAAGGGCTGGGCTTTACCAACAGTGAGATCACACCCAGTTTCTAGAAAGGTATGAAATATGAAGATTGCTTTTTGGCTTCCTTTAGTCATAGAGAAATTCTCCTGCCTTCCAGCCTTGACTTGATCCTAACACAATAAGCCCGGGTATACATTCACTGAAGTCATGAGTTAGTCATGTCCTCAAACAAAGGAGACAAGGAGCTGATCTGTGATAATTGTCCCCTCCTTCTTCTTCATCAGACACTCCCTGTGTGCCCCCTTCCCACACAGGTTTTCTACTCCACTTGCACCAGCCTCACCCTCTGAGTGGGATCCTTCCTGAGGGCGTATGGGCATTTGCCCGATGGCCTGAGCAAGAAGTAGCCTGTTGTGTTTTTTCCACTGCATTTGGACCAGTTCTTCTGGAGCTCCTGGCTGTCCTCCCTTGTGTCCTGGACATAGGAACGGGGTCTGCTTTGGGGATCTAACCCTCCTTTGTCAGGCAAGAGGGACAGAGGAGTTGAGTCTTTACACTGTAGGAGCAACATTTGTTCTGTGTACTGTGTGATCACCTGCCCACATGCCGTTTACCTAAAATGAAGGGAGCAGACATTGCCCAGGGTGCTCAGAGACCTGACTTCTGCCAGGAGTTTCTTTCCATATCTGCACCTCTCTCTCCAGTGCTTGCTTTCCTATTGAGCTTAGTCTCATGTAAATCTGCCTTTCCAGTTGAAATTTATAGACACCTTCTCCCTGCTGTTTTGGAGCATTTACATAGAGCTTAATTTAAACAACGGAAAATGAGTGATATAAAAATCATTAAGGAATTCACTGGATTTTTATTCCCACAGATTTTGACATTTCTTAAGAATCAAGAGTCAGACAGTTTAATTGGGTGTGTAGGGAAAGTCAAGGGGCATATGGAAGCTGTGAATCATAAAATTGTGCCCTTACAAGTGTGATGATGTAACATGTCAATTCCACATTTTAATTTCTGATCTCAGTGCTTGAAATCTCAAATCCATATACACCTTCTGGGAGGGTGGGCAGGCTGACAAAGGTGAGTGTGCTTGGTTTACAGAGGAATGAGCTTCACTTCTCCAGTCCATGCATTAAGCACTGTGCATGAGGAGAATGGAGAGCAATCCTGGGCAATATTGTTCTGTGAGAACCTATGGATAAATGAGCAACCGCAGGAGGAAGAACAAACTCCCATGCTAAGAAGAGCCTCAGGAAAGCTCTTGTTACTATTTTAAAAGCAGTCCCATTTCTCCAACATTTGGAGGGGGGGACACAGCATCCAGGAGAACAGGGTGTTCCCTGTCTAAAGGAGGTGCTAACTCAGCGTCTGGCAAGAACGAGATACCTTCTCAAGACAACGGAAGCAGCTCCCCTCCCTCCACCCTGGTTGCACAATGGTTGACCAAGAATGT
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Task1_train_17872
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Gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Epidermolysis bullosa simplex 1C, localized
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AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAG
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AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTTGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAG
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Task1_train_17873
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This sequence variant lies in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Epidermolysis bullosa simplex with mottled pigmentation
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AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAG
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AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTTGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAG
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Task1_train_17874
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A variant has been detected on Chromosome 12 in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Epidermolysis bullosa simplex
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AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAG
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AACACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTTGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAG
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Task1_train_17875
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Here is a mutation in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe
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CACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTG
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CACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGTCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTG
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Task1_train_17876
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Mutation context: Chromosome 12, Gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Epidermolysis bullosa simplex 2B, generalized intermediate
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CACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTG
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CACATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGTCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTG
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Task1_train_17877
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The following genetic variant occurs in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Epidermolysis bullosa simplex 2A, generalized severe
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ATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCA
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ATTCTGGAGGTAGTTAGAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCCCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCA
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Task1_train_17878
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The gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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GAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGT
|
GAACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTGAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGT
|
Task1_train_17879
|
A mutation found in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Epidermolysis bullosa simplex
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ACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTG
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ACCAAAACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAACTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTG
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Task1_train_17880
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This variant impacts the gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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ACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGG
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ACAAAATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGGTCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGG
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Task1_train_17881
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This variant lies on Chromosome 12 and affects the gene KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Epidermolysis bullosa simplex
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AATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGT
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AATTTGGGATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTGCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGT
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Task1_train_17882
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This alteration in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Epidermolysis bullosa simplex
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ATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAG
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ATTGGGGTGGGGATTCTGTTTTGATGATTTAGATTTGGGAAAACTTTGGGTTCTCGTGTCAGCAGGGGCCATGCTGTGGGAAACCTGAAGGCTGATTTGAAGCAGAATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCGGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAG
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Task1_train_17883
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A variant has been detected on Chromosome 12 in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Epidermolysis bullosa simplex
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AATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATA
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AATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGACATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATA
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Task1_train_17884
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Here’s a variant in KRT5, LOC126861525 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Epidermolysis bullosa simplex
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ATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATAT
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ATATAGAACTGCGGCACGGGAGACCAGGGGCTGGGAATGGGGCTCTCCTGGGAACCAAAGAATGTGGTTCTGCAATTGGCTTGGTCTAGACTACTCTCCAGAAAAGGATAAAACATGGCTTGAGCAACTGCCTAGAAGAGGCAATCTCCATGGGCTGGGTTGCTGCACTTGGAAGGCAGTGACTTGCAGCAGGTTCTTAGCTCTTGAAGCTCTTCCGGGAGGAGGAGGTGGTGGAGACAAATTTGACGCTGGAGCTGCTACCCCCGCCACTGCCAAAGCCCACCCCCAGCCCTCGGCCACTGCTTGCACTGAAGCCAGAGCCCCCCACACTGAGCCCACCACCTAGGCCGACACCCCCACTGCTGCTGGAGTAGTAGCTTCCACTGCTACCTCCGGCAAGACCTCCACCGAGGCCGCCGCCAAGACCTCCACCGAGGCCACCGCCATAGCCACTGCCACTGCCATATCCAGAGGAAACACTGCTTGTGACAACAGCTGCAGGGAAAGGAGGGAGGACTCAGTGAGACCATCTGCCAGGCTGATCCTGCATGGCCCATTTATTTGATCTGCTGGTGTTGGAGCACTCTACTGGACCCCCTTTACAGAGTAGCAAACAAGGCCCGGAAGAACTGTCATTTAATTAAGGTCCCTAAAAAAGTGGGTGAGTGTAAGAGGCAAGGTGCTAGGTACTGAGAGGAGCTAGGTACTGAGGGGAGCTAGGTACTACAGGGAGCTAGGTACTGAGGGGAGCTAGGTACTGAGGGGAGGAGCTAGGTACTGGGGGGAGCTAGGTACTAGGGACAAGGCAGGGGACAGGGTCCAAGAAGCATAGGATGCATGGCTTACCCTTTAAGAGATGAGACATAAGCCACATTGCTTCCTGTCCCAATCTGTCCTTCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGTATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATAT
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Task1_train_17885
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A mutation on Chromosome 12 affecting KRT5 (keratin 5) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Epidermolysis bullosa simplex 1C, localized
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TCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCT
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TCCCCTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCAGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCT
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Task1_train_17886
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With a mutation on Chromosome 12 in gene KRT5 (keratin 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Epidermolysis bullosa simplex 2C, localized
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CTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACC
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CTCCACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTTTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACC
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Task1_train_17887
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This gene mutation involves KRT5 (keratin 5) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Epidermolysis bullosa simplex
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ACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGT
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ACCACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGACCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGT
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Task1_train_17888
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The gene KRT5 (keratin 5) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCGTGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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Task1_train_17889
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Given this variant in gene KRT5 (keratin 5) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Epidermolysis bullosa simplex, Koebner type
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCGTGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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Task1_train_17890
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The variant affects gene KRT5 (keratin 5), 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; Epidermolysis bullosa simplex 1C, localized
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCGTGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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Task1_train_17891
|
A genetic alteration is present in KRT5 (keratin 5) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Epidermolysis bullosa simplex with mottled pigmentation
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCGTGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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Task1_train_17892
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The gene KRT5 (keratin 5) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCGTGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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Task1_train_17893
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The gene KRT5 (keratin 5) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Dowling-Degos disease 1
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCGTGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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Task1_train_17894
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An alteration has been detected in KRT5 (keratin 5) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Epidermolysis bullosa simplex with migratory circinate erythema
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCGTGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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Task1_train_17895
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Chromosome 12 houses a mutation in gene KRT5 (keratin 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Epidermolysis bullosa simplex, Koebner type
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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ACCCACAACTTACTAAGTGTATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCGTGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGA
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Task1_train_17896
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Given this variant in gene KRT5 (keratin 5) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Epidermolysis bullosa simplex
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TATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATT
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TATTATTATAAATAACCATATGCTGGGATGGGAAAAGTTTGGATCTAGAAACAGCAGAATTCTGAGTTGGCACTAAATATATCCCATATTATTGTCGTTGTTAATGTCTGTTCAAAGCTACTTACAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGAAAGGGGAAAAATTGAATTAAGGGTTAACAGCTCCCAAAAAGACAGCATTAGTCTATGTGGCTAACTCCCATCCTCATGATTCGAGTTCATTCCATAAGCCAGGAGTCTGTACACCCAAAAGCTGCTTAAGTTAAAGGAAGGGAGAACTCTCCAGAGGGATTTTCCAATGAAGAGGGATTGACCTAGAAACAAGTTGTTAGGAAAGAATTATAATTCACATTCTTCTCCACCCACTATGGGGAAAGTATAAGAGATTTGGAAAATGTGATTATGTCGAAAGCAGTTTTTGCCTTGTAGGAGTTACATTCTGTGAGAGAACTTGGCACGGACAGAAATTCCTCCAACAGAAAGTAGGCAATGGGCAATGTCAGAGGTTGAAGCAAACAGTAGTTTGACAATCCAAAGGTAGCTGAGTTTAACTCAGCTGGAGTAAACATGAAAGCCTTCCTGAAGGAAGGGGTACTGGAGGACAAGGGTGGATGGAGGTGGGCATGACATGGATATTGAGGTTGAGCAAAGGACGTGAGCAAAAGCAGAAAAGGCACAAGTGTCAAGAAGATTGCTGAGTTGCTCAGGTGCTTGGAGGACAGCCAGTGCCCAGGAACACCGGTGGGGGAAAAGAGACCAGAAAAGTGAGTTGAGGTCAGCTATATGGCCATGAGTCAGACTGAAATAGTGTTGATGATGTGTCATTATCACGCACAAGTCACTGATCTCATGTATGTGTGTTGTACACCCCACAGTAGAGCAGCTTCGCTTTATCAGCTGAAGGCCATCTTGAGTTCATGCTGTCTACTCACCTGCATTCCTCGCCCTCCAGCAGCTTGCGGTAAGTGGCGATCTCCACGTCCAGGGCCAGCTTGGTGTTCATGAGCTCCTGGTACTCACGCAGCAGCCGGGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCCAGCTCGGCCAGCTTGTTCCTGGCATCCTTGAGGGCCAGCTCCCCACGCTGCTCGGCATCCGCAATGGCGTTCTGCAGATTGGCGCACTACAGATAGAAAGGAGGAGAGTGGGGTTGCTTGGGACCTGAGGTGTCTCCTTCTGAGTTTCTGGGTCAGACAAACCAAACTATCATGAATCCCAGAGAGAAACCAGTACATCGTGGGTGGCAGGACACTGAAACACTGGTACTGGATCTAGCTGCGTGTGTTTAGCAAAAGTAAAACAAAATAAAACAAAGTAGGTGTTTCTTTTAGAACTCAGGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGGGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATT
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Task1_train_17897
|
Consider this mutation in KRT5, LOC126861526 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Epidermolysis bullosa
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GGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCT
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GGCCCCTTCCTTGCCCTCTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACATGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCT
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Task1_train_17898
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A genomic change on Chromosome 12 affects KRT5, LOC126861526 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Epidermolysis bullosa simplex
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CTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGG
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CTTTCAATCTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTCTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGG
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Task1_train_17899
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This sequence variant lies in LOC126861526, KRT5 (BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265| keratin 5) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Epidermolysis bullosa simplex
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CTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAG
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CTCACCCTACCTGTTTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTCCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAG
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Subsets and Splits
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