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_14800
|
This variant lies on Chromosome 11 and affects the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Costello syndrome
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCAGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
Task1_train_14801
|
Mutation context: Chromosome 11, Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Large congenital melanocytic nevus
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCAGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
Task1_train_14802
|
Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Thyroid cancer, nonmedullary, 2
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCAGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
Task1_train_14803
|
This alteration in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Epidermal nevus
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCAGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
Task1_train_14804
|
Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Malignant tumor of urinary bladder
|
ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
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ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCAGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
|
Task1_train_14805
|
This sequence change occurs on Chromosome 11, altering HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Costello syndrome
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ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCCGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
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ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCAGGAGACCGGCAGGGGCGGGGAGCCGGGGTCATCCGGTGGGCGTGGCGGCCGCCCTGGGAGTCCCCCTCACCTGCGTCAGGAGAGCACACACTTGCAGCTCATGCAGCCGGGGCCACTCTCATCAGGAGGGTTCAGCTTCCGCAGCTTGTGCTGCCGGATCTCACGCACCAACGTGTAGAAGGCATCCTCCACTCCCTGGGAAAGGAGGGATGGGATCAGGAGGGACCGGCCTGTGGCCGCCTGCCTGGGTGAGGGGCTCCCTGCTGTGGGATCAAGCCTTGCCTGGCCCGAAGCTCCCGACTCCACCAGCCACTTCCCCAGGCCCACCACACACACGGGAAGCTGGACTCTGGCCATCTCGAAGTGCCCAGGGCCACCCGCATCATGCTACAGCAGCCCCTCAAAGGTCAGGGTGGCCCGGGGCCCTCCTGAACTCCAGGTCTGGCCAGGGTTTGACCACCCTGCACCCAGCTCTCGACTCAGCTACGGCCCGTGTCCCCAGTAGCCCCACTAAGACTCAGAACCAACAGGTGCCCGTGGGACACTCTGGGGACAAGAGGGGCCGGGCCCCAGGGTCACCGCTCCGGCCTGGCTCAGGGCAGCTCTCCCCAAGGACCTCCGCCTTCCCCGGAGCTGTGTCGGCCCAGGACTGCAGGGCGTGAGCCCAGACCCCGGCCCTCGCCTCCCTCACTGCCCTGCCGTCCCGGGAGACTTACAGCGCGAGGGGCCGCTGGGTCACATGGGTCCCGGGGGGTCCCAGAGGGTCCCGGAGCTGGAGCTAGAGCCAGAGCGGCTGCCCTGTGTCAAGGGAGAGGGTCAGTGAGTGCTGCTCCCTGGCTGGGGCGGGGCGGGGCGGGTCCCTGGCTAGCTGTGGGGTGGAGAGCTGCCTCACCTGCCGGGTCTTGGCCGAGGTCTCGATGTAGGGGATGCCGTAGCTTCGGGCGAGGTCCTGAGCCTGCCGAGATTCCACAGTGCGTGCAGCCAGGTCACACTTGTTCCCCACCAGCACCATGGGCACGTCATCCGAGTCCTTCACCCGTTTGATCTGCTCCCTGAGAGGTGGAAAGCGAGAGCTGGCTACGGGGGCTGCAGGCGCAGCGGCATCCAGGACATGCGCAGAGAGGACAGGAGGCCCCTGCCTGGACGCAGCCGGCCTGGCCCCACCTGTGCGGCGTGGGCTCCCGGGCCAGCCTCACGGGGTTCACCTGTACTGGTGGATGTCCTCAAAAGACTTGGTGTTGTTGATGGCAAACACACACAGGAAGCCCTCCCCGGTGCGCATGTACTGGTCCCGCATGGCGCTGTACTCCTCCTGGCCGGCGGTATCCAGGATGTCCAACAGGCACGTCTCCCCATCAATGACCACCTGCTTCCGGTAGGAATCCTGCAGGAGGACAGGGCTCAGGGACCCCCTCAGGACCTTCCGTGGGGGGAGTTCACACAGCCAGCCTCTCCCTGGTACCTCTCATGCCCCTCATGCCCCCTCCTCTCCTGGGGTGCTGAGACGAGGGACTCCCCTCCTCTAGAGGAAGCAGGAGACAGGGCCACAGCACCATGCAGGGGACCAGGGGCTGCAGCCAGCCCTATCCTGGCTGTGTCCTGGGCTCGCCCGCAGCAGCTGCTGGCACCTGGACGGCGGCGCCAGGCTCACCTCTATAGTGGGGTCGTATTCGTCCACAAAATGGTTCTGGATCAGCTGGATGGTCAGCGCACTCTTGCCCACACCGCTGGCGCCCACCACCACCAGCTTATATTCCGTCATCGCTCCTCAGGGGCCTGCGGCCCGGGGTCCTCCTACAGGGTCTCCTGCCCCACCTGCCAAGGAGGGCCCTGCTCAGCCAGGCCCAGGCCCAGCCCCAGGCCCCACAGGGCAGCTGCTGGCAGGGCCATCTGAAGGGCAAACCCACAGCGGTCCCTGGGCCCCAACGCCAGGCAGCAAGGACTGCAGCGTGCCTACCTGTGCAGCTGCAACCCAGCGTGCGGGAGGGCTGTCGCCTCGCCCCCACTTGCTCTTAATGACCCAGTGATGGGAAAAGGGACCCAGCCCTCAAAGGCAGGGCTGACAGCTGAGCGCTCTCAACCACGCACCCAAATTAGAAGCTGCTGGGTCGGCAGAAAGGCTAAAGGGAGGCGCCCGAGGGCTGAGGTTACCGTCCTCCAGAACAGGTCTGGCCACGGCGGAGCGCGCCACGGCGTGCCCGGGCAGGCTAGTGCCAGCCTGCAGGCCCCGCGGCGCTGGTGCCTCCGACAAGTATTTGCTGAGCGCCTACTGCGTACTAGGCGCCGCCGAGGGGAGGGCAGACCCGGGCAGCGCCCCGCACCCCCGGCGGGGAACCGGGGGCATCTTTCAGCCACAGAAAGCTGGAGAAGACAGAGGAGCTCCTGGGAAGCAGGGACTGAGCGACAGGAAGGGGCCGAGAAGCGGCGCGGGAGACCCGGAGAGGGAAAAGGCACTGGGGCTGAGGCCCCCGGCCTGGTCCGCGACCTGTGATGCTGAATCGGGGGTGCCCGGGCGTGCCGTGGCCGCGGCCGCCTCCTCCCAGACGCCCCCGGGTGTGAGGGCGCCGGGCCCGAGGCTCCCGGGTACGCCGGCGTGGGGACCGTGCCCAGCGCGAGGCCACGGGTGGGGCCCGGATTCCCGCAGGCCCCAGGGAGGAAGGGGCCCCCGCCCGCCGCAGCCCCCGACGCCCGCTCACCTGTGCCCGCGGGCCCCGCCCGGCCCCACCCACCCGCCGCCGCCGCCGCCGCCGCCGCTTACGCCCGCCGGCCCCGCGCCCCCGGCCCGCGCCGCGCGTATTGCTGCCGCCTGGGGGCGAGGAGGGCGCGCGGCCCGGCCGATCCCTGCCCGCACTCACCGTTCACAGGCGCGACTGCCCCCGGGGCCAGGGCCGGGGCCGAGGCCGGGGCGGGGCGGGGGCGGGGGCGCGCGGTTCGCCCCGCGCATGGGCTCCGTCCGCGGCGGGTGCGGCTCGGGTTGCGGGCGCAGGGCACGGGCGGCGGAGACTCGGGCGGGCCTGCGCACGCCCCGCCCCGCGCCCGTCCGTCTGCCAGGCGCGGCCTACCATTGGCTGCGCGCCATCGGGCCCCGCCCCACCCCGGTTGGCTGAGCGGCCCGTCTGTCAGGAGCCGCGGTCGGGCGGGGCTTCCGGGAGCAACGCGGGAGGCGGAGCCAGTAGGGCCGCGGCCTCTCGGGGTTGGGCTTGGCTGGAGACCGGAGCCGAGCTCGGGGTTGCTCGAGGAAGGCCAGGGAGCCGGTGTCTGGGGGCCCGGGGCGGCATCTCCGAGCAGGGCCCCGGGCTCTCCCGGGAACAGGCCGGCGAGAGAACCCGACTCAGCGGTGCCGGTGCACCAGAGGCCCTCCCTGCGCCGGCAGCGCGGCGCCGCCCACCGCGGAGGTCCCGGGGCTACGGGCTGGGGAAAGGCTGGGATCCGCCGGGACCAAGGCGGGATGCTCGGAGCTGGGGGCCCCCGGGTGGCCGCGGGGTCCGGTTGCCCGGCTGCCCTTCCGCGCAGGTGGAGCGGCCGCGCACCCCACCTACCACCACGCACCCCAGCTCCCCTACTCCCACCGCAACCCACCCCGAGGACGCTTGCAGCCCCGGTGGGGTTCCGGGCGGCGGGCGCAGCCGTGTGCCCTGGGGCCAGGCGTGAGAACGCCCCCTCCACCACTCTCCTCTTTCTCGGGCCTGCGTGGCAGGCGACCCTGCCCGCCCAGTCCCCCCAAACTTGAGGTTCCAACGCTGCAGAAGCTCAGCGTGGTCCAGTTAAACCGTACC
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Task1_train_14806
|
This variant impacts the gene LRRC56 (leucine rich repeat containing 56) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Ciliary dyskinesia, primary, 39
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TGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAATCACAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGACTCCATCTCAAAAAAAAAATTAAAAATTAAAAAATTTCAAAGGAACTTGTCATAAATAAAAGACTGAAAGGAAAAACAAACTGAATTATTGGCACTGAAACATATCCTAATAAAGTTACTGGCATGAAGATAAAGGTAAAAAGTTGGAGCAGCCAAGAAAAGAGATTGACTTGTCTTTTTTTCTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGACCATGGCTTACAATAGCCTCGACCTCCTGGGCTCAGGTGCTCCTCCCACCTCAGCCTCCTGAAGTGCCAGGATTACAGGCATGAAGCACTGTGCTCAGCCTCAAGTTTTGTTTGTTTGTTTGTTTGTTTGGAGACGGAGGCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCCGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCACCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAACCAGGACGGTCTAGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAACCACCGCGCCCGGCCTCAAGTGGTTTTTTAAGGACAGAAATAACGAAGTGCTCCTTAGACGTCGCCACAGTGGACACTGGAACGAAAGGCTTTGCAGCCTCCTGGGAAGAGGCGTGAACTGAGAGTCTGACACCCAGCCTAATGGCTGCATAAGCTCACAGCCAGCAAACATCTGTGAGTCAGAGATCAAGGGGTTTCCATTAGCTGCTCTTGAAGAAATCACTAGACACAAATCCCAGCCAATTCAGAGCGGAGTGGAAAAGCCATTGAAGGCAGCAGGCTGAGGACAGACACTGACTCCACAGCGCGAAAGGACGGACCACCGGGAATGCACCTGAGGGCCCACAGAAGGAAGCTGAAAACACAGTGGGCGGAATGAAGCCCAGGTGAGTCACAGCCTACGGGTGCCGTGAACTGGACAGAAAGAAGATTTCCGAAGAAATCACCCAGCCCTGGAGGAATCTGTGGCTCCTCAGGGAAAGCCTGTGAGCTCAGGTGGCCCTTTCACAAGGAGAGGTGCAGAGATGGCGTAGCAGCGCTGAAGGGACGGCCTCCCAGCCGAGAGGGGCAGGTGCAGGGTCCCTGGGGACAGCGCATGGTGAAGTCACTGTGGCTACAGTGGGAACAGGGTGGGCCCGGCAGGAAGCAACCTGTCCCTGCACACATCAAGCCGCCCTGACCCACCGCCACCTCCAGCAGCTGGTCCCCACAAAAGCTGCCAGCTCAGCACGGGGTCAGCCTCCAGCGAAGCCCCCCACATCGGTGTCCAGGGGCTCAGGCTCCCAGGCAGCACTCCAGACCCTTACTCCAAATTCGAGTGCCCCAAACGCTACTGAGGAGACAATTAGAAAGAGAAAGGTGATGCCTGCAGCCTGCCAGGGAGGGGACTGAGCCACCCACTATGAGGGCAGCGCCTTGGGCACAGCTGAGCCACCGGTCACGAGGGCAGCTCCCCAAGCCAGGCCCTCCAGGGCTTGGAGAAGGTGGGGGACACTGTACCCACACCAGAGCCAGAAGGCCAAGGCAGAGAGCCCCTTCCTCAGTCTAGAGGCCACCATAGGTGGTCACACCTGCCCCTACCCCTGAAGACAGCCAAAGGCAGGTGGTGGCTGAGCACAGGGCTGGGCACATGTTGACCACCAAACCCTGCCTTCTGCAGGGACTTGGGCACGTCTCTGGGCCACCTGCAGGTGCTGTGGCTGGCTCGCTGTGGCCTCGCTGACCTGGATGGCATCGCCTCTTTGCCAGCACTTAAGGTGAGTCTGGGCACCCTGGGCTGGGGAGGCCTGGGCTGGGCCGGGCCCTGGCTCAGAGCCCCGCGCTGCCCAGGAACTCTACGCCTCCTACAACAACATCTCGGACCTGAGCCCACTGTGCCTGCTGGAACAATTGGAGGTGCTGGACCTGGAGGGCAACAGCGTGGAGGACCTGGGGCAGGTGCGCTACTTGCAGCTGTGCCCACGCCTGGCCATGCTCACCCTGGAGGGCAACCTGGTGTGCCTACAGCCGGCCCCTGGCCCCACCAACAAGGTGCGTGTCCCGGGCACCCGGCCAGCATGTGCATGGCCAGGAGAGGCTCCCTGTGGCTCCAGCCCCGGGGCCCCTCCTCTGGCCAGGTACTTCTGTGCCCACCCGCACCCTATGGCCTGCTCACCATGAGTTCACCTCCTCTGTCACTGGAAGTCTGACGGCTCCCAGGACACCCTCCTGGACCAGCCCCGCTAGATCCCACAGGGTCACCTGCACACACGCCATGTCCCTTAACCCACATATGCACCTGTGAGGTCCACACATAAGCCACGTGGAAACACAAAGAACCACGTGTACACGGATGTGTGCACACACACACCTGTGTACGCCCTGTCCAGAGCCACCTCCAGCCCCACAGGCCCCACAGACCACCCTATGCAGTATCTCGGGGCTCTGCGTGCCCTGCTCAGAGCTGGCACACCTGTGCGTGCAGGCCCTGGCGTAGCTCACAGACCCTACACAGGGCACATCTGCCCTGAGCTCACAGTGCTAGCCTCATTAGCTGCTGCTTGGTGCTGCCACATGCTGAGGTCAGCGTCTACCAGTGCCCAGTAGCTACTGCTCCGTGGGCCAGAGCCCTGAGCTGAGGGCAGTTCCATGGGCCAGAGGGCATCCCTGGACCCGGCCTTGGGTCTGGAGAGTGGGGTCCTACATCCTGAGCAGGTGAGAGCCCAGTCCCTCAGTCCCTGGGGTGTGAGAGTGACCCAAGCCCACCCCTGCAGGGTAGGCAGCATCCCCACCTCTGGGCCCCTGCCCTGCCCCACGGTGGGTCTGGGAAAGGGAGCCAGGGAAAGAGCTGGCCGGAAGGAAACACTGGACCCAGACCTGCCCTCCCTCCCCCTCCCCCTCCCCCTGCAGGTGCCCAGGGGCTACAACTACAGGGCAGAGGTGAGGAAGCTCATTCCCCAGCTGCAGGTCCTGGACGAAGTGCCGGCCGCACACACAGGCCCACCGGCCCCCCCGCGGCTGAGCCAGGACTGGCTTGCGGTGAAGGAGGCCATCAAGAAGGGCAACGGCCTTCCCCCGCTGGGTACGGCAGCTGCGCCCGGAGGACCCACTGCTGAGCCCCAGCTCCCCCCAGGAAGAGGCCCCCACCCCAGGCTTCTCAGAAACGGATAGCCACATCTCATGCGCTTCTCCAGCCTTGACCCCGGTCCCCAGAGCTGTGCACACCCGGCCCCAGGCCAGGACACTGTCTCTGAGCAGCCCACAGAGGGAGAGGAAGGTCTGAAGATGAGGGCCTCTCTAGAAGGCTGCAGCGTGAGAGGCCAGCCTCAGGCCATGCAGCATGGGGATTGGGGCCCCTGGTCTGTGGACAGAGTCTGGGGGGCGCTCTCAGGCTGGGCCTTGGTGACCTCTGCTTCTGAACCTCGGGCAGACTGTCCCCGTGGAGCCCCCATCCGGAGACTTGACCCCGAGCTGTCCCTGCCTGAGACGCAGTCCCGGGCCTCCAGGCCCTGGCCCTTCTCCCTGCTGGTCCGTGGGGGCCCCCTGCCTGAAGGCCTGCTTTCTGAGGACCTGGCCCCAGAAGATAACACCAGCAGCCTCACCCATGGTAACTGACTTGCCTCAAAGCTGACCCTGCAGCCCCTCGGCCCCGAACCAGGCCCAGCCATGCTGTCTCTTGCAGGTGCTGGCCAAGTCCTCTGTGGGAACCCCACCAAGGGCCTGCGGGAGCGTAGGCACCAGTGCCAGGTACAGCCCACAGGGACCAGCCCCCCACGAGAACCAGTGTCCAGGGTTGCGGCCCTGACAGTGCCCTGCCCTGC
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TGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAATCACAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGACTCCATCTCAAAAAAAAAATTAAAAATTAAAAAATTTCAAAGGAACTTGTCATAAATAAAAGACTGAAAGGAAAAACAAACTGAATTATTGGCACTGAAACATATCCTAATAAAGTTACTGGCATGAAGATAAAGGTAAAAAGTTGGAGCAGCCAAGAAAAGAGATTGACTTGTCTTTTTTTCTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGACCATGGCTTACAATAGCCTCGACCTCCTGGGCTCAGGTGCTCCTCCCACCTCAGCCTCCTGAAGTGCCAGGATTACAGGCATGAAGCACTGTGCTCAGCCTCAAGTTTTGTTTGTTTGTTTGTTTGTTTGGAGACGGAGGCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCCGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCACCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAACCAGGACGGTCTAGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAACCACCGCGCCCGGCCTCAAGTGGTTTTTTAAGGACAGAAATAACGAAGTGCTCCTTAGACGTCGCCACAGTGGACACTGGAACGAAAGGCTTTGCAGCCTCCTGGGAAGAGGCGTGAACTGAGAGTCTGACACCCAGCCTAATGGCTGCATAAGCTCACAGCCAGCAAACATCTGTGAGTCAGAGATCAAGGGGTTTCCATTAGCTGCTCTTGAAGAAATCACTAGACACAAATCCCAGCCAATTCAGAGCGGAGTGGAAAAGCCATTGAAGGCAGCAGGCTGAGGACAGACACTGACTCCACAGCGCGAAAGGACGGACCACCGGGAATGCACCTGAGGGCCCACAGAAGGAAGCTGAAAACACAGTGGGCGGAATGAAGCCCAGGTGAGTCACAGCCTACGGGTGCCGTGAACTGGACAGAAAGAAGATTTCCGAAGAAATCACCCAGCCCTGGAGGAATCTGTGGCTCCTCAGGGAAAGCCTGTGAGCTCAGGTGGCCCTTTCACAAGGAGAGGTGCAGAGATGGCGTAGCAGCGCTGAAGGGACGGCCTCCCAGCCGAGAGGGGCAGGTGCAGGGTCCCTGGGGACAGCGCATGGTGAAGTCACTGTGGCTACAGTGGGAACAGGGTGGGCCCGGCAGGAAGCAACCTGTCCCTGCACACATCAAGCCGCCCTGACCCACCGCCACCTCCAGCAGCTGGTCCCCACAAAAGCTGCCAGCTCAGCACGGGGTCAGCCTCCAGCGAAGCCCCCCACATCGGTGTCCAGGGGCTCAGGCTCCCAGGCAGCACTCCAGACCCTTACTCCAAATTCGAGTGCCCCAAACGCTACTGAGGAGACAATTAGAAAGAGAAAGGTGATGCCTGCAGCCTGCCAGGGAGGGGACTGAGCCACCCACTATGAGGGCAGCGCCTTGGGCACAGCTGAGCCACCGGTCACGAGGGCAGCTCCCCAAGCCAGGCCCTCCAGGGCTTGGAGAAGGTGGGGGACACTGTACCCACACCAGAGCCAGAAGGCCAAGGCAGAGAGCCCCTTCCTCAGTCTAGAGGCCACCATAGGTGGTCACACCTGCCCCTACCCCTGAAGACAGCCAAAGGCAGGTGGTGGCTGAGCACAGGGCTGGGCACATGTTGACCACCAAACCCTGCCTTCTGCAGGGACTTGGGCACGTCTCTGGGCCACCTGCAGGTGCTGTGGCTGGCTCGCTGTGGCCTCGCTGACCTGGATGGCATCGCCTCTTTGCCAGCACCTAAGGTGAGTCTGGGCACCCTGGGCTGGGGAGGCCTGGGCTGGGCCGGGCCCTGGCTCAGAGCCCCGCGCTGCCCAGGAACTCTACGCCTCCTACAACAACATCTCGGACCTGAGCCCACTGTGCCTGCTGGAACAATTGGAGGTGCTGGACCTGGAGGGCAACAGCGTGGAGGACCTGGGGCAGGTGCGCTACTTGCAGCTGTGCCCACGCCTGGCCATGCTCACCCTGGAGGGCAACCTGGTGTGCCTACAGCCGGCCCCTGGCCCCACCAACAAGGTGCGTGTCCCGGGCACCCGGCCAGCATGTGCATGGCCAGGAGAGGCTCCCTGTGGCTCCAGCCCCGGGGCCCCTCCTCTGGCCAGGTACTTCTGTGCCCACCCGCACCCTATGGCCTGCTCACCATGAGTTCACCTCCTCTGTCACTGGAAGTCTGACGGCTCCCAGGACACCCTCCTGGACCAGCCCCGCTAGATCCCACAGGGTCACCTGCACACACGCCATGTCCCTTAACCCACATATGCACCTGTGAGGTCCACACATAAGCCACGTGGAAACACAAAGAACCACGTGTACACGGATGTGTGCACACACACACCTGTGTACGCCCTGTCCAGAGCCACCTCCAGCCCCACAGGCCCCACAGACCACCCTATGCAGTATCTCGGGGCTCTGCGTGCCCTGCTCAGAGCTGGCACACCTGTGCGTGCAGGCCCTGGCGTAGCTCACAGACCCTACACAGGGCACATCTGCCCTGAGCTCACAGTGCTAGCCTCATTAGCTGCTGCTTGGTGCTGCCACATGCTGAGGTCAGCGTCTACCAGTGCCCAGTAGCTACTGCTCCGTGGGCCAGAGCCCTGAGCTGAGGGCAGTTCCATGGGCCAGAGGGCATCCCTGGACCCGGCCTTGGGTCTGGAGAGTGGGGTCCTACATCCTGAGCAGGTGAGAGCCCAGTCCCTCAGTCCCTGGGGTGTGAGAGTGACCCAAGCCCACCCCTGCAGGGTAGGCAGCATCCCCACCTCTGGGCCCCTGCCCTGCCCCACGGTGGGTCTGGGAAAGGGAGCCAGGGAAAGAGCTGGCCGGAAGGAAACACTGGACCCAGACCTGCCCTCCCTCCCCCTCCCCCTCCCCCTGCAGGTGCCCAGGGGCTACAACTACAGGGCAGAGGTGAGGAAGCTCATTCCCCAGCTGCAGGTCCTGGACGAAGTGCCGGCCGCACACACAGGCCCACCGGCCCCCCCGCGGCTGAGCCAGGACTGGCTTGCGGTGAAGGAGGCCATCAAGAAGGGCAACGGCCTTCCCCCGCTGGGTACGGCAGCTGCGCCCGGAGGACCCACTGCTGAGCCCCAGCTCCCCCCAGGAAGAGGCCCCCACCCCAGGCTTCTCAGAAACGGATAGCCACATCTCATGCGCTTCTCCAGCCTTGACCCCGGTCCCCAGAGCTGTGCACACCCGGCCCCAGGCCAGGACACTGTCTCTGAGCAGCCCACAGAGGGAGAGGAAGGTCTGAAGATGAGGGCCTCTCTAGAAGGCTGCAGCGTGAGAGGCCAGCCTCAGGCCATGCAGCATGGGGATTGGGGCCCCTGGTCTGTGGACAGAGTCTGGGGGGCGCTCTCAGGCTGGGCCTTGGTGACCTCTGCTTCTGAACCTCGGGCAGACTGTCCCCGTGGAGCCCCCATCCGGAGACTTGACCCCGAGCTGTCCCTGCCTGAGACGCAGTCCCGGGCCTCCAGGCCCTGGCCCTTCTCCCTGCTGGTCCGTGGGGGCCCCCTGCCTGAAGGCCTGCTTTCTGAGGACCTGGCCCCAGAAGATAACACCAGCAGCCTCACCCATGGTAACTGACTTGCCTCAAAGCTGACCCTGCAGCCCCTCGGCCCCGAACCAGGCCCAGCCATGCTGTCTCTTGCAGGTGCTGGCCAAGTCCTCTGTGGGAACCCCACCAAGGGCCTGCGGGAGCGTAGGCACCAGTGCCAGGTACAGCCCACAGGGACCAGCCCCCCACGAGAACCAGTGTCCAGGGTTGCGGCCCTGACAGTGCCCTGCCCTGC
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Task1_train_14807
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This alteration occurs within gene DEAF1 (DEAF1 transcription factor) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Intellectual disability, autosomal dominant 24
|
CAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCGCATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACATGGTGAAACGCTGTCTCTACTAAAAATACCAAAAAAAAATTAGCCGGGCATGGTGGCAGGCGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGTGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGGGATGGAGCGAGACTCCACCTCAAAAAAAAAAAAAAATCAGTTCTAACTCTATTTTCCTCAGTGTGGCTTCTAGAATATTCTCCAGCACACAACCAGCTAGGCTGCATTTCTGTTGCACAACTGCAGTCAAAAGCAGGAGCCGGCAGACAGAGAGTATTTTCAGCTTTGCCAGTTCTGGCATCTGTCACAAGTAACCCACTGCCACACGCCAACCCCATCCACACTGCACCGCCCACCTGACGTGGCTCACACGCTGTCCCCACCAACAAACGCCTGGTTCAAGGCCCCTCTCGAGGCACCCAGCAGCCTATGCAGCCCAATGTGGCGTCGGGGATGTGATGTCACAGACAGGGATATGCTGAGGACGCGTCAGGCAGGCACTGGAGCAGCTCACCTGTGGCCCCTGCGAAGACGTCGCCCTGGGCCGGACTCTCTGATATGACAGCAGTGGCCTCTACCGTGGACGCTCGGTCAAAGGTCAGTGCCCCCGAGGTCGTGATCTGTCCCGAGGGGGTCACGGTGACTGGAAAGGCAGAAGCACATTTCACGCGGCCAGGCAGTGGCGCCCACGGCACACAGGTCCCGTGCCACCCACGGGCGCCAATCCTTGTGGGGGCCTGGGCTGAAGGGCGGGCAGTGGTAACTGTACCCTCCCATGTGAAGGACACGGGGGAAATCCCAGACCTTGGAGAAGACCTCACAGGAGAAAACCAGGATGGCCAGGATGGCAACTTGCCACTACCAATTGTTCGCTGTTTAAACTGTGAACCATGGAAATGTGCTGCCCAGCCAGAAAACAAACATAAAATAAAACTTTCAGTGATTTTTAAGTACTTCGTGGTTCGAATTAAGAAAAAATCTTTAATCCAAGCTGAAGGTAAAAAGCAGCCGTGTCCCACAGCAAGGCTGCCCTGTGTCCCACAGCAAGGCTGCCTCTCCAGCTCAAAAAAAAATCCTGGCGACAGATCTTGAGACTCTGCTGCTGTGGGACTCTTCCTGCACCCACCACCCAGGGCCTCAGGAAGGAGCTGACAGGGTGTTTTAGAAAGACCTTACTCTATAAATGCAAAAACCCAGACTTAGTTAACAAAAGCCTATTACAAAGACATTTTCTCCTATTGCTACCTCTCCCCATTTAAATCCTGTCTGTACAAAAAAATAAAAACATTAGCTGGGCATGGTGGCACGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGCAGTGCCTGAGCCTGGGAGGCCGAGGCTGCAGCGAGCCGGGATCCTGACGCCGCCCTCCAGCCCGGCCACAGAGAAAGACCCACAGAGCTCTCCGCAGCCCTCGTCCAGCGCACTGAGAATCCCTCACCAAGGACGCCCTTGTCAGGAAACGTCCCCTGAGCGTGTGCTGGGCACTCAGCCATGCTCACTCATACTAGGAAACAGCCCAGGACAAGGCCAACAGTGTCCGGGTCCCAGGGAAGCAAGACCGAGCTGGGCACTGGGACACCCCTTCCCACCCGGGGGACGCACTGCAAAGGAGTGTGATGGCGTTGGAATCCCTCTGGCCACGCAATGTGCTTTAGAAGTGAGAATCCCGCAGTGGCCGTGGGAGTGGTGACGAGAGAAGGCAATGCACTCAGGTCCCCTCAGTAAACTAGAGCTGTGTTTTCTCAAACTCACAGGTGGTAGCCGCGGTGGCTGGAAGCAATGTGATGTTCTTGGGGGAGTCCTTCTTCACGGGAGTTGTGGGCAGTTCATTCTCCTTCTTGCGCCTTTTGTAAGGCACAAAAAGCCTGACTGGGCCACTCTGGGGGAGAAAGGAGAGAGGCCACCACCTTCATGTGTGCAAAAGCTATGCTGCGCTTGCAACTCCTCCTTAAGTGGGGGCACCGCGGGGTGTGTGAGTCACATGGTGAGACCACATTAAGATGGTAAGCGCCCCTAAAGATCCCACCTCTTTTTCTTTTTTGAGACGGAGTTTCACTCTAGCTGCCCACGCTGGAGTGCAGTGGCGCCATCTTGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTGCGTTAGTCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACACCCGGCTAATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAAGCCTGGCTAGTGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGGTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCCGACTTTTTTTTTTAAATAATTTATATCTCTTCATTGACATTCTCCAGTGAGGAGACAGTGTCTTCAGACCTTCCATGCAATCTCTAGCTGTGGTTTCCTTCAGTCCTCTGAACATACTGAGGATAGCCATTTTAAAGCTTTTTCCTGTTAACCCCAACATCCGGACCTCTCCAGGCAATTTCTGTTGCCTGCTTTCTTCCTGTGTATGGTCCAAGGCTCCTTGCATGTCTTATCATCTTTTGTTAAGAATCAGACACCGCAGGTGATACATTGTAGCAACAGTGGAAAGCAGTTCTCCTTTCTCTGGGATCCTTGCTGCTGTCAGCTTGTTTATTACTCAGGTACGGAGCTGGACTATCTTACTGAGCCTGTTCTCCTGGGGCGGCCTCGGCTGCTGCTCCTCTGAGGGCTCGGCCCTGGGTGGGGTGCAATCACCTTTGGTGGTGGGAGTTTTGGCTGTCGCTCTTCCTGATCTCTGTTAAGCTGTTGGTGTAGTCAAGTGTCAGAATCAACTAACTGCCAGCTGCCTGCTCCATTACTTTCAACAATGCCCTGGGGCACACACTGCTCCACTGTCTGAGCCAATTAAATTAGGGCTTCTTTACTGAGAGGTTCGATCTTGAAGGTCGGTTTCCCAGATGGGTTCTTCGCTGTGGCTTTCCTCGCCTCTCTGGTAAACCTGCTGACCTACAGTTTAGTTTCTTGCTCTAATGGAACTGCTGGCCTCCTCTTAACTGCTTACCATCAAAATGTCCATTCTTTTCCAGGGCACTTTTAGGCTTGAACATCCCCATACTGTTTCAAATCAAGTCAGTTCCTTTGGGAGGGGCTTTGGAGCTCTCTGTTCTTACGGCCTCTCTCTCTTTTGGGCTGAATGTCTGAGCCCCTACTATAGACCTAGAGGCAGGAACAGTGCCTGAGTCTATCAGAGGGAATTCTGTTGCATTAGCCGGGTTCTGTGTGGGGGGCAGCAGCCTCTCACTGCATGGACACCCCACCCTATGGGCAATGTGGGTTGATGGAAATTGGGGCTCCGTATGCTTGGCCTCCCATGCCTGGGTAAAGCCTCTGCCCTCTGAGTGGGGATGACTGAAGAGATTTTCAGTCACACTTCCCAGGAATTTACTGCAACTTAGAGCTGAAGGGGTTGAGAAATGCTGGTGGCCTGCCCCTCCCAGTGAGATACCATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTT
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CAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCGCATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACATGGTGAAACGCTGTCTCTACTAAAAATACCAAAAAAAAATTAGCCGGGCATGGTGGCAGGCGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGTGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGGGATGGAGCGAGACTCCACCTCAAAAAAAAAAAAAAATCAGTTCTAACTCTATTTTCCTCAGTGTGGCTTCTAGAATATTCTCCAGCACACAACCAGCTAGGCTGCATTTCTGTTGCACAACTGCAGTCAAAAGCAGGAGCCGGCAGACAGAGAGTATTTTCAGCTTTGCCAGTTCTGGCATCTGTCACAAGTAACCCACTGCCACACGCCAACCCCATCCACACTGCACCGCCCACCTGACGTGGCTCACACGCTGTCCCCACCAACAAACGCCTGGTTCAAGGCCCCTCTCGAGGCACCCAGCAGCCTATGCAGCCCAATGTGGCGTCGGGGATGTGATGTCACAGACAGGGATATGCTGAGGACGCGTCAGGCAGGCACTGGAGCAGCTCACCTGTGGCCCCTGCGAAGACGTCGCCCTGGGCCGGACTCTCTGATATGACAGCAGTGGCCTCTACCGTGGACGCTCGGTCAAAGGTCAGTGCCCCCGAGGTCGTGATCTGTCCCGAGGGGGTCACGGTGACTGGAAAGGCAGAAGCACATTTCACGCGGCCAGGCAGTGGCGCCCACGGCACACAGGTCCCGTGCCACCCACGGGCGCCAATCCTTGTGGGGGCCTGGGCTGAAGGGCGGGCAGTGGTAACTGTACCCTCCCATGTGAAGGACACGGGGGAAATCCCAGACCTTGGAGAAGACCTCACAGGAGAAAACCAGGATGGCCAGGATGGCAACTTGCCACTACCAATTGTTCGCTGTTTAAACTGTGAACCATGGAAATGTGCTGCCCAGCCAGAAAACAAACATAAAATAAAACTTTCAGTGATTTTTAAGTACTTCGTGGTTCGAATTAAGAAAAAATCTTTAATCCAAGCTGAAGGTAAAAAGCAGCCGTGTCCCACAGCAAGGCTGCCCTGTGTCCCACAGCAAGGCTGCCTCTCCAGCTCAAAAAAAAATCCTGGCGACAGATCTTGAGACTCTGCTGCTGTGGGACTCTTCCTGCACCCACCACCCAGGGCCTCAGGAAGGAGCTGACAGGGTGTTTTAGAAAGACCTTACTCTATAAATGCAAAAACCCAGACTTAGTTAACAAAAGCCTATTACAAAGACATTTTCTCCTATTGCTACCTCTCCCCATTTAAATCCTGTCTGTACAAAAAAATAAAAACATTAGCTGGGCATGGTGGCACGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGCAGTGCCTGAGCCTGGGAGGCCGAGGCTGCAGCGAGCCGGGATCCTGACGCCGCCCTCCAGCCCGGCCACAGAGAAAGACCCACAGAGCTCTCCGCAGCCCTCGTCCAGCGCACTGAGAATCCCTCACCAAGGACGCCCTTGTCAGGAAACGTCCCCTGAGCGTGTGCTGGGCACTCAGCCATGCTCACTCATACTAGGAAACAGCCCAGGACAAGGCCAACAGTGTCCGGGTCCCAGGGAAGCAAGACCGAGCTGGGCACTGGGACACCCCTTCCCACCCGGGGGACGCACTGCAAAGGAGTGTGATGGCGTTGGAATCCCTCTGGCCACGCAATGTGCTTTAGAAGTGAGAATCCCGCAGTGGCCGTGGGAGTGGTGACGAGAGAAGGCAATGCACTCAGGTCCCCTCAGTAAACTAGAGCTGTGTTTTCTCAAACTCACAGGTGGTAGCCGCGGTGGCTGGAAGCAATGTGATGTTCTTGGGGGAGTCCTTCTTCACGGGAGTTGTGGGCAGTTCATTCTCCTTCTTGCGCCTTTTGTAAGGCACAAAAAGCCCGACTGGGCCACTCTGGGGGAGAAAGGAGAGAGGCCACCACCTTCATGTGTGCAAAAGCTATGCTGCGCTTGCAACTCCTCCTTAAGTGGGGGCACCGCGGGGTGTGTGAGTCACATGGTGAGACCACATTAAGATGGTAAGCGCCCCTAAAGATCCCACCTCTTTTTCTTTTTTGAGACGGAGTTTCACTCTAGCTGCCCACGCTGGAGTGCAGTGGCGCCATCTTGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTGCGTTAGTCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACACCCGGCTAATTTTCTTTCTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAAGCCTGGCTAGTGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGGTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCCGACTTTTTTTTTTAAATAATTTATATCTCTTCATTGACATTCTCCAGTGAGGAGACAGTGTCTTCAGACCTTCCATGCAATCTCTAGCTGTGGTTTCCTTCAGTCCTCTGAACATACTGAGGATAGCCATTTTAAAGCTTTTTCCTGTTAACCCCAACATCCGGACCTCTCCAGGCAATTTCTGTTGCCTGCTTTCTTCCTGTGTATGGTCCAAGGCTCCTTGCATGTCTTATCATCTTTTGTTAAGAATCAGACACCGCAGGTGATACATTGTAGCAACAGTGGAAAGCAGTTCTCCTTTCTCTGGGATCCTTGCTGCTGTCAGCTTGTTTATTACTCAGGTACGGAGCTGGACTATCTTACTGAGCCTGTTCTCCTGGGGCGGCCTCGGCTGCTGCTCCTCTGAGGGCTCGGCCCTGGGTGGGGTGCAATCACCTTTGGTGGTGGGAGTTTTGGCTGTCGCTCTTCCTGATCTCTGTTAAGCTGTTGGTGTAGTCAAGTGTCAGAATCAACTAACTGCCAGCTGCCTGCTCCATTACTTTCAACAATGCCCTGGGGCACACACTGCTCCACTGTCTGAGCCAATTAAATTAGGGCTTCTTTACTGAGAGGTTCGATCTTGAAGGTCGGTTTCCCAGATGGGTTCTTCGCTGTGGCTTTCCTCGCCTCTCTGGTAAACCTGCTGACCTACAGTTTAGTTTCTTGCTCTAATGGAACTGCTGGCCTCCTCTTAACTGCTTACCATCAAAATGTCCATTCTTTTCCAGGGCACTTTTAGGCTTGAACATCCCCATACTGTTTCAAATCAAGTCAGTTCCTTTGGGAGGGGCTTTGGAGCTCTCTGTTCTTACGGCCTCTCTCTCTTTTGGGCTGAATGTCTGAGCCCCTACTATAGACCTAGAGGCAGGAACAGTGCCTGAGTCTATCAGAGGGAATTCTGTTGCATTAGCCGGGTTCTGTGTGGGGGGCAGCAGCCTCTCACTGCATGGACACCCCACCCTATGGGCAATGTGGGTTGATGGAAATTGGGGCTCCGTATGCTTGGCCTCCCATGCCTGGGTAAAGCCTCTGCCCTCTGAGTGGGGATGACTGAAGAGATTTTCAGTCACACTTCCCAGGAATTTACTGCAACTTAGAGCTGAAGGGGTTGAGAAATGCTGGTGGCCTGCCCCTCCCAGTGAGATACCATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTT
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Task1_train_14808
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This is a variant in DEAF1 (DEAF1 transcription factor), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Intellectual disability, autosomal dominant 24
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ACCATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAATTTGATGAAGTCCAATCCAAGAAATCCTAGTTCTAACTCCAGGTCAGGAAGATTTTCCAATGTGTTTTCTCCTAAAAATGTTATAGTTTCACCTTTCACTTTAGATCGATGACCCATTTTGAATTCATTTTTGTACCAAGTGTGAAGTTTAGGTCATCCTTTGTCTCTGCTGATGAACGTCCTGTCACTCCAAGGCCATTTGCTGGAGTCTACTATGACACTCTAGTCTGACCCAGATCGTGGGGTCTCTCCCTCTGCCAGTGCCACACTATCTTGATTACTGTCACGAGCCCGTAAGTCTTAAGACCCCGCAATGTGATTCCACCCATTTTAAACTTTTATTTCAAAACTGTTTTGGCTTTTTTGTTTCAAAACTGTTTTGGCTTTTTTATTTCCTTTACCTTTCTATGCAAATTTTAGAATCAGCTTGTCTGCATCTAAAAAGAATCCTGCTGGGATTTTGATAGTCATTGTGTTAAACCTACGAATCAACTTGGGAAAAAGTCGCATCTTTACTGAGTCTTCTAATCCACGGGCGCAGGACGTCTTTTGACGTATTTCAATCTTCCCTGGTCTCTCTCTTCAGCATTTTCTTTAGTATCTTCCACGTACAAACCCTGTACATGATTTCCTAGACTGACATCTAAGTACTTCAGTGTTGGAGCCCCTGCAAATGATCTACCTGCAGGCTCAACTGCCAATGGGACCGACGTCTCCTCCCGGCTCCTTTACTCCTGCAGCGTCTCTAAGAGTCTCACCGACTGGCTTTTCCCAATCAACTTCAAAATTATTTTACGTTCACAAAATTGTTTTTTCCACTAGAATCACATGAAATCTATATATCAACTACACAATTCTAGGATGTTTAGTGTTTCACCCCAAGAACACGGTAGGTCTCTCCATGCTCTTTTTTTTTTTTTTTGAGGTGCAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCTGAGGCGGGCGGATCACATGTGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCACATGCCTGTAATCCCAGCTACGCGGGAAGCTGAGGCAGGAGAAGTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCGCCACTGCACCCCAGTGTGGGCGACAGAATGAGACTTCGTCTCAGAAAAAAAAAAAGAAAGAAAAATTATTTTGGGTCTTTGTGAAGCAGTTAAGAATTTAGAATAAGGAAATACGTCAAAAAGGCGTTAAAAGCTCTACACATGAATAAGTTTACAGTAGCATTTTTCTGACATGTTACAAAATGAGGAATATAAAATGGCATGCATACAAGGAAAAGCGTGTATGTTTAGTTTTAGAGTTAAGGCGGTGACATTATAACCGCTTTTCATTATTTAAGGTTTCCACAAATGTTCTTTGAGCAACATCTTGGGGGCCAACCACGTGTTCCCCATCGAGACATCAGGATTCACTGTGACGTATCAGGGAGGAGGGAACAGAGCAACCCAGGAGAAGTGAGGACAGTGTCTCTCTCCAAGGCAGAGGGCAGGAGGGAAACAGCCGAGAGGCCAAGGGCTGTGGGACCCACTCAGCCGCCCCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCC
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ACCATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAATTTGATGAAGTCCAATCCAAGAAATCCTAGTTCTAACTCCAGGTCAGGAAGATTTTCCAATGTGTTTTCTCCTAAAAATGTTATAGTTTCACCTTTCACTTTAGATCGATGACCCATTTTGAATTCATTTTTGTACCAAGTGTGAAGTTTAGGTCATCCTTTGTCTCTGCTGATGAACGTCCTGTCACTCCAAGGCCATTTGCTGGAGTCTACTATGACACTCTAGTCTGACCCAGATCGTGGGGTCTCTCCCTCTGCCAGTGCCACACTATCTTGATTACTGTCACGAGCCCGTAAGTCTTAAGACCCCGCAATGTGATTCCACCCATTTTAAACTTTTATTTCAAAACTGTTTTGGCTTTTTTGTTTCAAAACTGTTTTGGCTTTTTTATTTCCTTTACCTTTCTATGCAAATTTTAGAATCAGCTTGTCTGCATCTAAAAAGAATCCTGCTGGGATTTTGATAGTCATTGTGTTAAACCTACGAATCAACTTGGGAAAAAGTCGCATCTTTACTGAGTCTTCTAATCCACGGGCGCAGGACGTCTTTTGACGTATTTCAATCTTCCCTGGTCTCTCTCTTCAGCATTTTCTTTAGTATCTTCCACGTACAAACCCTGTACATGATTTCCTAGACTGACATCTAAGTACTTCAGTGTTGGAGCCCCTGCAAATGATCTACCTGCAGGCTCAACTGCCAATGGGACCGACGTCTCCTCCCGGCTCCTTTACTCCTGCAGCGTCTCTAAGAGTCTCACCGACTGGCTTTTCCCAATCAACTTCAAAATTATTTTACGTTCACAAAATTGTTTTTTCCACTAGAATCACATGAAATCTATATATCAACTACACAATTCTAGGATGTTTAGTGTTTCACCCCAAGAACACGGTAGGTCTCTCCATGCTCTTTTTTTTTTTTTTTGAGGTGCAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCTGAGGCGGGCGGATCACATGTGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCACATGCCTGTAATCCCAGCTACGCGGGAAGCTGAGGCAGGAGAAGTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCGCCACTGCACCCCAGTGTGGGCGACAGAATGAGACTTCGTCTCAGAAAAAAAAAAAGAAAGAAAAATTATTTTGGGTCTTTGTGAAGCAGTTAAGAATTTAGAATAAGGAAATACGTCAAAAAGGCGTTAAAAGCTCTACACATGAATAAGTTTACAGTAGCATTTTTCTGACATGTTACAAAATGAGGAATATAAAATGGCATGCATACAAGGAAAAGCGTGTATGTTTAGTTTTAGAGTTAAGGCGGTGACATTATAACCGCTTTTCATTATTTAAGGTTTCCACAAATGTTCTTTGAGCAACATCTTGGGGGCCAACCACGTGTTCCCCATCGAGACATCAGGATTCACTGTGACGTATCAGGGAGGAGGGAACAGAGCAACCCAGGAGAAGTGAGGACAGTGTCTCTCTCCAAGGCAGAGGGCAGGAGGGAAACAGCCGAGAGGCCAAGGGCTGTGGGACCCACTCAGCCGCCCCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGGGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCC
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Task1_train_14809
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Here is a genetic alteration in DEAF1 (DEAF1 transcription factor) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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ATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAATTTGATGAAGTCCAATCCAAGAAATCCTAGTTCTAACTCCAGGTCAGGAAGATTTTCCAATGTGTTTTCTCCTAAAAATGTTATAGTTTCACCTTTCACTTTAGATCGATGACCCATTTTGAATTCATTTTTGTACCAAGTGTGAAGTTTAGGTCATCCTTTGTCTCTGCTGATGAACGTCCTGTCACTCCAAGGCCATTTGCTGGAGTCTACTATGACACTCTAGTCTGACCCAGATCGTGGGGTCTCTCCCTCTGCCAGTGCCACACTATCTTGATTACTGTCACGAGCCCGTAAGTCTTAAGACCCCGCAATGTGATTCCACCCATTTTAAACTTTTATTTCAAAACTGTTTTGGCTTTTTTGTTTCAAAACTGTTTTGGCTTTTTTATTTCCTTTACCTTTCTATGCAAATTTTAGAATCAGCTTGTCTGCATCTAAAAAGAATCCTGCTGGGATTTTGATAGTCATTGTGTTAAACCTACGAATCAACTTGGGAAAAAGTCGCATCTTTACTGAGTCTTCTAATCCACGGGCGCAGGACGTCTTTTGACGTATTTCAATCTTCCCTGGTCTCTCTCTTCAGCATTTTCTTTAGTATCTTCCACGTACAAACCCTGTACATGATTTCCTAGACTGACATCTAAGTACTTCAGTGTTGGAGCCCCTGCAAATGATCTACCTGCAGGCTCAACTGCCAATGGGACCGACGTCTCCTCCCGGCTCCTTTACTCCTGCAGCGTCTCTAAGAGTCTCACCGACTGGCTTTTCCCAATCAACTTCAAAATTATTTTACGTTCACAAAATTGTTTTTTCCACTAGAATCACATGAAATCTATATATCAACTACACAATTCTAGGATGTTTAGTGTTTCACCCCAAGAACACGGTAGGTCTCTCCATGCTCTTTTTTTTTTTTTTTGAGGTGCAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCTGAGGCGGGCGGATCACATGTGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCACATGCCTGTAATCCCAGCTACGCGGGAAGCTGAGGCAGGAGAAGTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCGCCACTGCACCCCAGTGTGGGCGACAGAATGAGACTTCGTCTCAGAAAAAAAAAAAGAAAGAAAAATTATTTTGGGTCTTTGTGAAGCAGTTAAGAATTTAGAATAAGGAAATACGTCAAAAAGGCGTTAAAAGCTCTACACATGAATAAGTTTACAGTAGCATTTTTCTGACATGTTACAAAATGAGGAATATAAAATGGCATGCATACAAGGAAAAGCGTGTATGTTTAGTTTTAGAGTTAAGGCGGTGACATTATAACCGCTTTTCATTATTTAAGGTTTCCACAAATGTTCTTTGAGCAACATCTTGGGGGCCAACCACGTGTTCCCCATCGAGACATCAGGATTCACTGTGACGTATCAGGGAGGAGGGAACAGAGCAACCCAGGAGAAGTGAGGACAGTGTCTCTCTCCAAGGCAGAGGGCAGGAGGGAAACAGCCGAGAGGCCAAGGGCTGTGGGACCCACTCAGCCGCCCCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCG
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ATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAATTTGATGAAGTCCAATCCAAGAAATCCTAGTTCTAACTCCAGGTCAGGAAGATTTTCCAATGTGTTTTCTCCTAAAAATGTTATAGTTTCACCTTTCACTTTAGATCGATGACCCATTTTGAATTCATTTTTGTACCAAGTGTGAAGTTTAGGTCATCCTTTGTCTCTGCTGATGAACGTCCTGTCACTCCAAGGCCATTTGCTGGAGTCTACTATGACACTCTAGTCTGACCCAGATCGTGGGGTCTCTCCCTCTGCCAGTGCCACACTATCTTGATTACTGTCACGAGCCCGTAAGTCTTAAGACCCCGCAATGTGATTCCACCCATTTTAAACTTTTATTTCAAAACTGTTTTGGCTTTTTTGTTTCAAAACTGTTTTGGCTTTTTTATTTCCTTTACCTTTCTATGCAAATTTTAGAATCAGCTTGTCTGCATCTAAAAAGAATCCTGCTGGGATTTTGATAGTCATTGTGTTAAACCTACGAATCAACTTGGGAAAAAGTCGCATCTTTACTGAGTCTTCTAATCCACGGGCGCAGGACGTCTTTTGACGTATTTCAATCTTCCCTGGTCTCTCTCTTCAGCATTTTCTTTAGTATCTTCCACGTACAAACCCTGTACATGATTTCCTAGACTGACATCTAAGTACTTCAGTGTTGGAGCCCCTGCAAATGATCTACCTGCAGGCTCAACTGCCAATGGGACCGACGTCTCCTCCCGGCTCCTTTACTCCTGCAGCGTCTCTAAGAGTCTCACCGACTGGCTTTTCCCAATCAACTTCAAAATTATTTTACGTTCACAAAATTGTTTTTTCCACTAGAATCACATGAAATCTATATATCAACTACACAATTCTAGGATGTTTAGTGTTTCACCCCAAGAACACGGTAGGTCTCTCCATGCTCTTTTTTTTTTTTTTTGAGGTGCAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCTGAGGCGGGCGGATCACATGTGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCACATGCCTGTAATCCCAGCTACGCGGGAAGCTGAGGCAGGAGAAGTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCGCCACTGCACCCCAGTGTGGGCGACAGAATGAGACTTCGTCTCAGAAAAAAAAAAAGAAAGAAAAATTATTTTGGGTCTTTGTGAAGCAGTTAAGAATTTAGAATAAGGAAATACGTCAAAAAGGCGTTAAAAGCTCTACACATGAATAAGTTTACAGTAGCATTTTTCTGACATGTTACAAAATGAGGAATATAAAATGGCATGCATACAAGGAAAAGCGTGTATGTTTAGTTTTAGAGTTAAGGCGGTGACATTATAACCGCTTTTCATTATTTAAGGTTTCCACAAATGTTCTTTGAGCAACATCTTGGGGGCCAACCACGTGTTCCCCATCGAGACATCAGGATTCACTGTGACGTATCAGGGAGGAGGGAACAGAGCAACCCAGGAGAAGTGAGGACAGTGTCTCTCTCCAAGGCAGAGGGCAGGAGGGAAACAGCCGAGAGGCCAAGGGCTGTGGGACCCACTCAGCCGCCCCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTAAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCG
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Task1_train_14810
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The gene DEAF1 (DEAF1 transcription factor) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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TGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAATTTGATGAAGTCCAATCCAAGAAATCCTAGTTCTAACTCCAGGTCAGGAAGATTTTCCAATGTGTTTTCTCCTAAAAATGTTATAGTTTCACCTTTCACTTTAGATCGATGACCCATTTTGAATTCATTTTTGTACCAAGTGTGAAGTTTAGGTCATCCTTTGTCTCTGCTGATGAACGTCCTGTCACTCCAAGGCCATTTGCTGGAGTCTACTATGACACTCTAGTCTGACCCAGATCGTGGGGTCTCTCCCTCTGCCAGTGCCACACTATCTTGATTACTGTCACGAGCCCGTAAGTCTTAAGACCCCGCAATGTGATTCCACCCATTTTAAACTTTTATTTCAAAACTGTTTTGGCTTTTTTGTTTCAAAACTGTTTTGGCTTTTTTATTTCCTTTACCTTTCTATGCAAATTTTAGAATCAGCTTGTCTGCATCTAAAAAGAATCCTGCTGGGATTTTGATAGTCATTGTGTTAAACCTACGAATCAACTTGGGAAAAAGTCGCATCTTTACTGAGTCTTCTAATCCACGGGCGCAGGACGTCTTTTGACGTATTTCAATCTTCCCTGGTCTCTCTCTTCAGCATTTTCTTTAGTATCTTCCACGTACAAACCCTGTACATGATTTCCTAGACTGACATCTAAGTACTTCAGTGTTGGAGCCCCTGCAAATGATCTACCTGCAGGCTCAACTGCCAATGGGACCGACGTCTCCTCCCGGCTCCTTTACTCCTGCAGCGTCTCTAAGAGTCTCACCGACTGGCTTTTCCCAATCAACTTCAAAATTATTTTACGTTCACAAAATTGTTTTTTCCACTAGAATCACATGAAATCTATATATCAACTACACAATTCTAGGATGTTTAGTGTTTCACCCCAAGAACACGGTAGGTCTCTCCATGCTCTTTTTTTTTTTTTTTGAGGTGCAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCTGAGGCGGGCGGATCACATGTGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCACATGCCTGTAATCCCAGCTACGCGGGAAGCTGAGGCAGGAGAAGTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCGCCACTGCACCCCAGTGTGGGCGACAGAATGAGACTTCGTCTCAGAAAAAAAAAAAGAAAGAAAAATTATTTTGGGTCTTTGTGAAGCAGTTAAGAATTTAGAATAAGGAAATACGTCAAAAAGGCGTTAAAAGCTCTACACATGAATAAGTTTACAGTAGCATTTTTCTGACATGTTACAAAATGAGGAATATAAAATGGCATGCATACAAGGAAAAGCGTGTATGTTTAGTTTTAGAGTTAAGGCGGTGACATTATAACCGCTTTTCATTATTTAAGGTTTCCACAAATGTTCTTTGAGCAACATCTTGGGGGCCAACCACGTGTTCCCCATCGAGACATCAGGATTCACTGTGACGTATCAGGGAGGAGGGAACAGAGCAACCCAGGAGAAGTGAGGACAGTGTCTCTCTCCAAGGCAGAGGGCAGGAGGGAAACAGCCGAGAGGCCAAGGGCTGTGGGACCCACTCAGCCGCCCCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTG
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TGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAATTTGATGAAGTCCAATCCAAGAAATCCTAGTTCTAACTCCAGGTCAGGAAGATTTTCCAATGTGTTTTCTCCTAAAAATGTTATAGTTTCACCTTTCACTTTAGATCGATGACCCATTTTGAATTCATTTTTGTACCAAGTGTGAAGTTTAGGTCATCCTTTGTCTCTGCTGATGAACGTCCTGTCACTCCAAGGCCATTTGCTGGAGTCTACTATGACACTCTAGTCTGACCCAGATCGTGGGGTCTCTCCCTCTGCCAGTGCCACACTATCTTGATTACTGTCACGAGCCCGTAAGTCTTAAGACCCCGCAATGTGATTCCACCCATTTTAAACTTTTATTTCAAAACTGTTTTGGCTTTTTTGTTTCAAAACTGTTTTGGCTTTTTTATTTCCTTTACCTTTCTATGCAAATTTTAGAATCAGCTTGTCTGCATCTAAAAAGAATCCTGCTGGGATTTTGATAGTCATTGTGTTAAACCTACGAATCAACTTGGGAAAAAGTCGCATCTTTACTGAGTCTTCTAATCCACGGGCGCAGGACGTCTTTTGACGTATTTCAATCTTCCCTGGTCTCTCTCTTCAGCATTTTCTTTAGTATCTTCCACGTACAAACCCTGTACATGATTTCCTAGACTGACATCTAAGTACTTCAGTGTTGGAGCCCCTGCAAATGATCTACCTGCAGGCTCAACTGCCAATGGGACCGACGTCTCCTCCCGGCTCCTTTACTCCTGCAGCGTCTCTAAGAGTCTCACCGACTGGCTTTTCCCAATCAACTTCAAAATTATTTTACGTTCACAAAATTGTTTTTTCCACTAGAATCACATGAAATCTATATATCAACTACACAATTCTAGGATGTTTAGTGTTTCACCCCAAGAACACGGTAGGTCTCTCCATGCTCTTTTTTTTTTTTTTTGAGGTGCAGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCTGAGGCGGGCGGATCACATGTGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCACATGCCTGTAATCCCAGCTACGCGGGAAGCTGAGGCAGGAGAAGTGCTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACCGCGCCACTGCACCCCAGTGTGGGCGACAGAATGAGACTTCGTCTCAGAAAAAAAAAAAGAAAGAAAAATTATTTTGGGTCTTTGTGAAGCAGTTAAGAATTTAGAATAAGGAAATACGTCAAAAAGGCGTTAAAAGCTCTACACATGAATAAGTTTACAGTAGCATTTTTCTGACATGTTACAAAATGAGGAATATAAAATGGCATGCATACAAGGAAAAGCGTGTATGTTTAGTTTTAGAGTTAAGGCGGTGACATTATAACCGCTTTTCATTATTTAAGGTTTCCACAAATGTTCTTTGAGCAACATCTTGGGGGCCAACCACGTGTTCCCCATCGAGACATCAGGATTCACTGTGACGTATCAGGGAGGAGGGAACAGAGCAACCCAGGAGAAGTGAGGACAGTGTCTCTCTCCAAGGCAGAGGGCAGGAGGGAAACAGCCGAGAGGCCAAGGGCTGTGGGACCCACTCAGCCGCCCCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTGAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTG
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Task1_train_14811
|
Mutation context: Chromosome 11, Gene DEAF1 (DEAF1 transcription factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; not provided
|
CCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCT
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CCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTGCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCT
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Task1_train_14812
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A variant affecting Chromosome 11, within the gene DEAF1 (DEAF1 transcription factor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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CAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCAC
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CAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTTCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCAC
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Task1_train_14813
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A variant found in Chromosome 11 affects DEAF1 (DEAF1 transcription factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Intellectual disability, autosomal dominant 24
|
TACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATG
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TACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAGACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATG
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Task1_train_14814
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A mutation on Chromosome 11 affecting DEAF1 (DEAF1 transcription factor) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Intellectual disability, autosomal dominant 24
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GCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTG
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GCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGCTGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTG
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Task1_train_14815
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Located on Chromosome 11, this mutation impacts DEAF1 (DEAF1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autism, susceptiblity to
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AGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCA
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AGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTACCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCA
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Task1_train_14816
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This alteration occurs within gene DEAF1 (DEAF1 transcription factor) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Intellectual disability, autosomal dominant 24
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AGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCA
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AGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTTCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCA
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Task1_train_14817
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This mutation is located in gene DEAF1 (DEAF1 transcription factor) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Intellectual disability, autosomal dominant 24
|
TGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCATCCG
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TGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCTGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAAGCGTAAGCCACCGTGCCCAACCTCATAAAGATAAAAATTCTGCAAAATCAGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGGACTTTGAGAGGCCGACGCAGGCAGACCACCTGAGCTCAGGAGCTGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTGTCTGCTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCCATAGTCCCAGCTACCTGGGAGGCTCAGGCAGGAGGATCGCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGGGAGGCCTTTGCCTCAAAAAAAAAAAAAATTGTGAGAAATCAGGTAATGCCCAGGCCAGGTGTGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACTTAAGGTCAGAAGTTCAAGACCAACCTGACCAACATGGTTGGTCTCCATTAAAATACAAAAATTAGGCCGGGTATTGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCAGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCATCCG
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Task1_train_14818
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Consider this mutation in DEAF1 (DEAF1 transcription factor) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Intellectual disability, autosomal dominant 24
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GTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCATCCGGCAAACTCTGGCCTGCAGGCTCTGTTCACCCCACGGTGGGGCAGACCAGAGACTTCCAGGGGCCTCTCTGAACCCCGTGTTTTGGGTGCCCCAAGGTTTTCATTCTGAATACAAAACCAACCGAGGCAAAGTGAGAAAACAACTGTTTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGACTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTGTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACACACGCCCACCACCACACCAGGCTAATTTTTTGCATTTTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTTCTGACCTCATGATCTGCCCATCTCGGCCTCCCAGAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAGCTGACAACTGTTTCCTACATCTGAAAATGTCACTGTCAAATCAGAGCACTTGAGTAGAAGTTTATCATGGAGTGGAGGGACCCCCAACACACATGCCTGACGCCTGGGCTCACACAGGGGGTCCTACTGCTGTGCCTGAGTCACCAAAGACCTGCAGCTCTTCACTGGAGAAAAGGAATGTCTTGTGTTTGTTTAAGAGTCACAGAGTATTTTTCTTAGGAAGGGAACACACAGTTATTTCAGACCGTGCCCCGCTTTGTTGTCAGTTTCCAAACAGGAACACACCAGTCTCTGGTCTTCCTGGCCTGGAGGGGAGAAAACCAGCCTCAGGCACTTGCAGGACACCCCCGCTCCATGACGTCAGCACGTTCCAGGCACCCACAGGTGCCTTGGGCTTCAGCCCCTCCTAGGAAATGAGGAGGTGCCCAGACCCCACTGCCAGGAAGGAGCAGCCTGACTGAAAACACAGATCGC
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GTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACACAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCATCCGGCAAACTCTGGCCTGCAGGCTCTGTTCACCCCACGGTGGGGCAGACCAGAGACTTCCAGGGGCCTCTCTGAACCCCGTGTTTTGGGTGCCCCAAGGTTTTCATTCTGAATACAAAACCAACCGAGGCAAAGTGAGAAAACAACTGTTTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGACTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTGTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACACACGCCCACCACCACACCAGGCTAATTTTTTGCATTTTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTTCTGACCTCATGATCTGCCCATCTCGGCCTCCCAGAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAGCTGACAACTGTTTCCTACATCTGAAAATGTCACTGTCAAATCAGAGCACTTGAGTAGAAGTTTATCATGGAGTGGAGGGACCCCCAACACACATGCCTGACGCCTGGGCTCACACAGGGGGTCCTACTGCTGTGCCTGAGTCACCAAAGACCTGCAGCTCTTCACTGGAGAAAAGGAATGTCTTGTGTTTGTTTAAGAGTCACAGAGTATTTTTCTTAGGAAGGGAACACACAGTTATTTCAGACCGTGCCCCGCTTTGTTGTCAGTTTCCAAACAGGAACACACCAGTCTCTGGTCTTCCTGGCCTGGAGGGGAGAAAACCAGCCTCAGGCACTTGCAGGACACCCCCGCTCCATGACGTCAGCACGTTCCAGGCACCCACAGGTGCCTTGGGCTTCAGCCCCTCCTAGGAAATGAGGAGGTGCCCAGACCCCACTGCCAGGAAGGAGCAGCCTGACTGAAAACACAGATCGC
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Task1_train_14819
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Gene DEAF1 (DEAF1 transcription factor), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; See cases
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CCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCCGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCATCCGGCAAACTCTGGCCTGCAGGCTCTGTTCACCCCACGGTGGGGCAGACCAGAGACTTCCAGGGGCCTCTCTGAACCCCGTGTTTTGGGTGCCCCAAGGTTTTCATTCTGAATACAAAACCAACCGAGGCAAAGTGAGAAAACAACTGTTTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGACTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTGTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACACACGCCCACCACCACACCAGGCTAATTTTTTGCATTTTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTTCTGACCTCATGATCTGCCCATCTCGGCCTCCCAGAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAGCTGACAACTGTTTCCTACATCTGAAAATGTCACTGTCAAATCAGAGCACTTGAGTAGAAGTTTATCATGGAGTGGAGGGACCCCCAACACACATGCCTGACGCCTGGGCTCACACAGGGGGTCCTACTGCTGTGCCTGAGTCACCAAAGACCTGCAGCTCTTCACTGGAGAAAAGGAATGTCTTGTGTTTGTTTAAGAGTCACAGAGTATTTTTCTTAGGAAGGGAACACACAGTTATTTCAGACCGTGCCCCGCTTTGTTGTCAGTTTCCAAACAGGAACACACCAGTCTCTGGTCTTCCTGGCCTGGAGGGGAGAAAACCAGCCTCAGGCACTTGCAGGACACCCCCGCTCCATGACGTCAGCACGTTCCAGGCACCCACAGGTGCCTTGGGCTTCAGCCCCTCCTAGGAAATGAGGAGGTGCCCAGACCCCACTGCCAGGAAGGAGCAGCCTGACTGAAAACACAGATCGCCACGTG
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CCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGAGCCTGGGAGGTGGAGGTTGCTGTGAGCCAAGATCAAGCCACTGCACTCCAGCCTGGGCAACAGGGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAACCACAAAAACAGTAATTTCCAGAGCCTTCTCCTTTTCACAATGCCATTATTGGTGGCAGGACCTACCTCTTTCCTTTCAAGATTTGCAAAAGTCTCTACAGGAATTGCTTCCTTAACAACACCCAAGGAGCTAAACTGGAATAGGAATTAGAAGTCCTCTTTTCTTAGTAGACTGACGAGAAGTTAGGTGACTTTGAAAGGGTCACACGCATTCAAACAGAAGCGATTATCTTAACTTCTACTGTTTTCATTTTTTGTGTATTTGACACGCCCCCTTTCTGCAGCTATTCTGTGCCAGGCGCTGTGACCTCATGCACTTCTCCCAACAATCCTCACAGGGTCACGATCATCGTCATCCCCACGTGAAAGACCCGGAAACTGAAACATGAGAGGGTAAATCACTCGCCCAAGGCCACACAGACAGCAGGTGGAGGCTGCAAACCCCATTTGTCTGACCCCGTGGTCTGTGCCCTCCCTCTGGCTGGGCCGCCTCAGAGGGCCCCACGTCTGAACTGTGTGCTGAGCACAGGTGAGGTCACGGACGATACCTGGATGAGGCACTGCAAGGGTCGGCCCGCGTAGCGAATGCTTCTTTTCCAGTCCTTACTGCTGGCTCTTCCTGCCATGGCCTCAAACTCGGTGGGACTGTACCAGTTCTCCCCCTGCTTGATGCACCGTCCCCGGCCGCCTGCAAGGAAGGGCAGCAGTCATGATGATGGCAGGTGGGAACGTCACCTCTGCCATTGCCTACCTCCTGGCGCCTCCTCAACCCCTCCACCAGCACCAGCGCCCCAGCGGCTCATGTGATCTCACCCACCCACATACTTGGCCCTGACAGGTCCACCACGGGTCTGCCTTTGCAGCCTGTGCCTCTGACCCCCTACGTGATCTCTCCACCCGCTGTCCACAGGCAGTGCAAGCTCAACCAGGTCCCACACTGAGCACCTCTGGTACCCACTTCCAGAGCCTTCATCTACAAGTCCCAAGCTAACCTGGCAACTTGAGGAACACGTCCCAGCCCTGCCTCCCTCCTGCTTCTTCTCGCTTGTCTCCTGTCCCGTGGGTCACGATGGCTTTTCACCCCCAGATGGTTCCTGGGCGCAGCCCTGTCCCGTGCCTCTCCCAGGCCTCAGCTCAGTTCACAGGAACTGGGTGTCACCTGCACCTTTTGTCTTGTTTTTTTGTTGTCGTTGTTGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGATGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGGGACTACAGGCGCCTGCCACCACGCTCCACTAATTTTTTGTATTTTTAGTAGAGACGGGTTTTCATCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGTATTACAGGCATCAGCCACCGCGCCCAGCCCTGTCTTCTTAACTAGTTCTAGGTGCCATGATTTTCATCTTTCTCAGCCCCCAATTTATGCTAGGGGGGTTACAAAGGGGAATACAACTTTGGAGTCTGAAGTGGCAGTCCTCACCTGAGCCGAGCCTGTTCTTGTACAGAGTGCAGCTGATGTTCCGGCACCGTACGGGCAGCTCACTGTCGTACACAGAAGGGTCCCAGTTGTATTTAGTTCCACCTTTTTCTTGGCCGGGAGCCAGAGGGGTTGGAGGAGACTGAGGACCTTGGGCAGAGAAAGTGTTTGAAGGTGAGAGGCCGGACACCGGGAAGCATAGTACACTCTCATCTCAGACACCACCTCCCCGGCAGCGCCACCTCCTTCAACGGCGGAAAAACTTCTTGGTCAGGAAAATTCCAATGCTTTTACTTAAAATCTATTAATAGATGATATTCCAAATTTACCACAAAAAGAAACAAGTAAATAAATCCCTGAAATAAATTCTAGCTATTCTGAAACGTGTTTTGCCCGAGGCCTGGGGTGCAGGCACCGCTGTACCTGGGGTGAGGGGAGCTGCCGGGCCTTTCAGCCCGGTGGTCTCCACGATGCTCCCATCTGTGTGGACGACAATCAGTGTCGCTTTTTCGGTGTTCAGGCTGTCCCCGATCTGAAGGGCCGTCCTACCAGACTAGAAGGAAAAACCGCTCCGTCAGGTCACGTCCGAGAGTGACACCAGGCGTGTCACTGAGCCCAGCTGGGCCGTCCTCCAGCAGGGCTCTCTGGCTGTTCTCACCAAGAAGGGACGCTCACCTAGGCACCCCATATCTTTTCCAAAGATACCTCTCAAAGACTTGAAAACAGAGCCAAGAACAAGAACAGACAATGCCGAAGTCTGTGTGGTGCTGAGGAAAATGCTTGCCATCATTTGTCAAAGGGAAGGAAGAAAGGTGCTCCACAAACAAGAAACACCCTCCCTTCCACCTGAGCCGCTCCCACAAGGTCACCGTCTTCATGCAGAGTTTCCAACAGACCGAGTTGGCCGCCACAGACAAGGCCTTGTGCAGGACCGCCCTCCAGACCTCCTTACAGATGGCAACTGGAGACCAGGGCCTCAAAACCACATTTCCACACTGGCTGAAGCTGCTGCAACTGCTGCCTGCTTCCAAAATCAGCCTTCAGGCGGCACAGACCCCGCCACAGGAAGCCAGAGTCTCCATGCCCACACACCACTGCTGGAACTTGAACCCTACCTTGGCCAAGTCATCCGGCAAACTCTGGCCTGCAGGCTCTGTTCACCCCACGGTGGGGCAGACCAGAGACTTCCAGGGGCCTCTCTGAACCCCGTGTTTTGGGTGCCCCAAGGTTTTCATTCTGAATACAAAACCAACCGAGGCAAAGTGAGAAAACAACTGTTTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGACTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTGTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACACACGCCCACCACCACACCAGGCTAATTTTTTGCATTTTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTTCTGACCTCATGATCTGCCCATCTCGGCCTCCCAGAGTGCTGGGATTACAGGCAGGAGCCACCGCGCCCAGCTGACAACTGTTTCCTACATCTGAAAATGTCACTGTCAAATCAGAGCACTTGAGTAGAAGTTTATCATGGAGTGGAGGGACCCCCAACACACATGCCTGACGCCTGGGCTCACACAGGGGGTCCTACTGCTGTGCCTGAGTCACCAAAGACCTGCAGCTCTTCACTGGAGAAAAGGAATGTCTTGTGTTTGTTTAAGAGTCACAGAGTATTTTTCTTAGGAAGGGAACACACAGTTATTTCAGACCGTGCCCCGCTTTGTTGTCAGTTTCCAAACAGGAACACACCAGTCTCTGGTCTTCCTGGCCTGGAGGGGAGAAAACCAGCCTCAGGCACTTGCAGGACACCCCCGCTCCATGACGTCAGCACGTTCCAGGCACCCACAGGTGCCTTGGGCTTCAGCCCCTCCTAGGAAATGAGGAGGTGCCCAGACCCCACTGCCAGGAAGGAGCAGCCTGACTGAAAACACAGATCGCCACGTG
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Task1_train_14820
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Mutation context: Chromosome 11, Gene LOC126861110, TALDO1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787| transaldolase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Deficiency of transaldolase
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GGAGGATCGCTTGAGCCTGGGAAGTTGAGGTTCCAGTAGCTATGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAGAAAAACCAAACCAAACATATGTACGTTCAGAGTGGAAGAGACAGAAAATGTATAAAACAAAGTAAAACTCCTCTATGATGTTCTCACCCAGAAGCAGCCAATGCTATACTCAAATAATTCGCATCAGGAAGAGGTGTTTTGTTTCCACATCTGTGTGTCTGCATGTTCTACCACCTGCCATCACTGACCTGCTCTGAGATAGCATCTCACTTTTTCACCACGGCTGGAGTGCAGTGGCACGAACTTGGCTCACTGCAGCCTTGACTCCAGGCTCAAGCTATCTTTCCACCTCAGTCCCCCAAGTGGCTGGGATGACAAGCACACATACCACTCCTGGGTAATTTCACCACGTTCCCCAGGCTGGTCTCGAACCCCTGGGCTCAAGAGATCTCTACCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGCCTGGCCTCATTTGTGTGTTTTTTTGTTTTTTTTTGTTTTTGAGACGGAGTTTCATTCTCGTCCATGCTGGAGTGCAATGGTGCTATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCAGGCGCCACCACTCCCGCCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCATGTTAGTCAGGCTGATCTCAAACTCCCAGCCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATCACAGGTTTGAGCCACTGCACCTGGCCGGACCATTTGTTTTTATATGTTGGAAAATACTCCATTTTATGGATAGGCCACAGTTATTCATCTGTTGGTGGACACCTGGTCAGTTTCCATCTCTTGAGCTGTGATGTATATTGCTGTGGTCGGTTTCCATTTCTCGGGCTGTGATGTATGCTGCTGCTCTGAACACATCTGCTGCTATGAACACATCTGCTGCTCTGAACACAGATGTGCAAGTTTTGTCCTGGACATGTGTTTTTGTTTCTCGTGGGCATATGCCTAGGAGTGGAGTCTCTGGGTGACTGCTGGAGGAACTGCAGGCTGTTTCCCAACTCAGCTGTGCCATCTGCTGTCCCCCTCGAACACCCCCGTGTGGCCATGTGGCAGAGGCGCCTGGGGAGGGAACTTGTGTCTGAAGGTGCCTGAGCAGAGCCTTGGCTGTCTCATCCCATGCCCCAGCCACATGGCAAAGTATGGGCACTGCTCCGTCCTTGGGGATCAACCCCAGGATGTCCAAAGTGCACTGGGATTTGGGCAAGTGGCCTAGTGAGGCCAAGGGGCTCCTCTCAGCAGAAACCAGGGTGCTACGGGCCTGCTGCAGGGTGGCCCCAGGAATGGGTAGGGTGGAACAGGGTGAGGACTGGAATGTGGTCAGAGATGACTCAGTGGTTCTAGCCTGGGAGCTGAGCCCTGGTGAGTTCTGGGATGAGGTGACGGCCTGGCGCAAGAGCACGGGCACCCAGAGGGCCTCCCTTGCCTTTGTCTATTGTGTCATGTGGGTTGGAGAAAATCCTGGTCACCCATAACCCACTATCCACTTAGAGCCCTCGAGTCTTACCGATTTGTTCTTAACAATGGCATGAGCCTGTTCCTGCCTTTTTAGTTTAAGGCCCGTGAGCGTCTTTGGCAGCCTGTGGCTCTGGGTGGGCACCTGGCCTGCATTCACCTGCCCCGCCCTCACCTGCCCCGCCCTCACCTGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCTGTCCCCGCCCTCACCTGCCCCGCCCTCACCTGTCCCCGCCCCGCAGGGAGCTCGAGGAGCAGCACGGCATCCACTGCAACATGACGTTACTCTTCTCCTTCGCCCAGGCTGTGGCCTGTGCCGAGGCGGGTGTGACCCTCATCTCCCCATTTGTTGGGCGCATCCTTGATTGGCATGTGGCAAACACCGACAAGAAATCCTATGAGCCCCTGGAAGACCCTGGTGAGGGTCCCTCTGTGGTAATGGGGTAAGGGGAGCAGCCTCAGCAGCACCTCAGGCAGGAAGAGCCCGAGACGGAGCTGCCGCATCAACAAGCAGTGAGGTGCACAGGTCGGCGCGGGGCAGGCAGGGGTGGCGGCTCAAGGTAGTGCAGCCGGCAGGCACTGGGAGGGCAGGTGGGGTGGTACCTCTGCCGAAGCCTTCCTGGTCACAGCTTGGTCTCTTTCCAGGGGTAAAGAGTGTCACTAAAATCTACAACTACTACAAGAAGTTTAGCTACAAAACCATTGTCATGGGCGCCTCCTTCCGCAACACGGGCGAGATCAAAGCACTGGCCGGCTGTGACTTCCTCACCATCTCACCCAAGCTCCTGGGAGAGCTGCTGCAGGACAACGCCAAGCTGGTGCCTGTGCTCTCAGCCAAGGCGGGTGAGGCCCCACTGCCCAGCTGTGGCTCCTGCTCGGGCAAGGCCAGCACTGCCGTGCCACGCTGCCCTGTGGGTGATCCCTCCCACCTGTGGGGCGAGCTCATCTTGGGAGACATGAGGGTGAAGTAGACCTCAACGGAGGGCTTGGCTTTCCTAACACATCTCACTCAAGTCATCAGCCAAGGCTCTGTGGGCTGAACCCCACTTCCAGCGTGAGCCTTGCTGGGGCCAAGGCCTGGCCCTGGTGGGAGATGCTTGGGTGCAGCAGTTCAGGCCCTGAGCCCAAGGGGCCAAGGTGGGCAGGGACATGGAGCAGGCATGGAAGGCTGGTTCTTGTCCCCCAGCCCAAGCCAGTGACCTGGAAAAAATCCACCTGGATGAGAAGTCTTTCCGTTGGTTGCACAACGAGGACCAGATGGCTGTGGAGAAGCTCTCTGACGGGATCCGCAAGTTTGCCGCTGATGCAGTGAAGCTGGAGCGGATGCTGACAGTGAGTGTTGTGTGTGGGTACCTACATATGCCAAGCCCTATGAGAGCCCGGGCCTGGGCGTCGGGGTTCAAGCTGGGCAGAGTTAAAACTTTGGTGAGACCCCAGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGCCTGTTGAGGCCATCCCAGGGTGGAGGGTGCATGGCACCCAGGGGTGCCCCCAGGATGCTTGGTGGGTCCTGGCTCCTCTCTGGCCTGTGTGGTGACTGTGGTATTGGCCACCCTGTGGCCGTGGCCCCCACACAGAGTGCAGACCCCACAAGGGCCTCCCTCCTTCCACATGGTGCCTTGTGAGGCTTCAAGGTGCAGAAGGTAGGGTGGGGAGACACAGCTCGTGCTCTGTTTGTTTCTAGGAACGAATGTTCAATGCAGAGAATGGAAAGTAGCGCATCCCTGAGGCTGGACTCCAGATCTGCACCGCCGGCCAGCTGGGATCTGACTGCACGTGGCTTCTGATGAATCTTGCGTTTTTTACAAATTGGAGCAGGGACAGATCATAGATTTCTGATTTTATGTAAAATTTTGCCTAATACATTAAAGCAGTCACTTTTCCTGTGCTGTTTCATTCACTGTCTCCGTCCCCTTTGTCCCCTAAGCATCACCTGCCCCAGCTGTGATGGGCTGTAACCTAGGTTAGGACTCAGAGATGGGGTCGGGGTCAGGGTACCCCAGACACAACCCACCGCCTGGGCCACCACCTGGGAACCCAGGTCAGGGTTGTTGCTGGGAGGCCATTGGTGGAGTTAGGCAAAGGGCAGGCTTCTGATGCCAGGGGCTCCCAAGGTGCTGTCCCAGGTGGGTCACAGATGAACAGTCTCAAGCCTCCAAGCGTGGGCAGATGTGGATGCCTCTCAGAGGAGCAGTCCCAGCCGGACCCTCCCTCCTGCTCTTGAGGGCCTGGGCCTCCTGTTCCCTGTCAAGGCTGCCCTGCCCATGCCCCCCGCCCCCCTCCTGTCCTGTTGTGGCTGAGACCTTACATGGGATGCCAGGTTCCTGCATGGGGTCATGGTGCCACCTTGTGGGGGCAGCACGACATGCACCAGC
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GGAGGATCGCTTGAGCCTGGGAAGTTGAGGTTCCAGTAGCTATGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAGAAAAACCAAACCAAACATATGTACGTTCAGAGTGGAAGAGACAGAAAATGTATAAAACAAAGTAAAACTCCTCTATGATGTTCTCACCCAGAAGCAGCCAATGCTATACTCAAATAATTCGCATCAGGAAGAGGTGTTTTGTTTCCACATCTGTGTGTCTGCATGTTCTACCACCTGCCATCACTGACCTGCTCTGAGATAGCATCTCACTTTTTCACCACGGCTGGAGTGCAGTGGCACGAACTTGGCTCACTGCAGCCTTGACTCCAGGCTCAAGCTATCTTTCCACCTCAGTCCCCCAAGTGGCTGGGATGACAAGCACACATACCACTCCTGGGTAATTTCACCACGTTCCCCAGGCTGGTCTCGAACCCCTGGGCTCAAGAGATCTCTACCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGCCTGGCCTCATTTGTGTGTTTTTTTGTTTTTTTTTGTTTTTGAGACGGAGTTTCATTCTCGTCCATGCTGGAGTGCAATGGTGCTATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCAGGCGCCACCACTCCCGCCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCATGTTAGTCAGGCTGATCTCAAACTCCCAGCCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATCACAGGTTTGAGCCACTGCACCTGGCCGGACCATTTGTTTTTATATGTTGGAAAATACTCCATTTTATGGATAGGCCACAGTTATTCATCTGTTGGTGGACACCTGGTCAGTTTCCATCTCTTGAGCTGTGATGTATATTGCTGTGGTCGGTTTCCATTTCTCGGGCTGTGATGTATGCTGCTGCTCTGAACACATCTGCTGCTATGAACACATCTGCTGCTCTGAACACAGATGTGCAAGTTTTGTCCTGGACATGTGTTTTTGTTTCTCGTGGGCATATGCCTAGGAGTGGAGTCTCTGGGTGACTGCTGGAGGAACTGCAGGCTGTTTCCCAACTCAGCTGTGCCATCTGCTGTCCCCCTCGAACACCCCCGTGTGGCCATGTGGCAGAGGCGCCTGGGGAGGGAACTTGTGTCTGAAGGTGCCTGAGCAGAGCCTTGGCTGTCTCATCCCATGCCCCAGCCACATGGCAAAGTATGGGCACTGCTCCGTCCTTGGGGATCAACCCCAGGATGTCCAAAGTGCACTGGGATTTGGGCAAGTGGCCTAGTGAGGCCAAGGGGCTCCTCTCAGCAGAAACCAGGGTGCTACGGGCCTGCTGCAGGGTGGCCCCAGGAATGGGTAGGGTGGAACAGGGTGAGGACTGGAATGTGGTCAGAGATGACTCAGTGGTTCTAGCCTGGGAGCTGAGCCCTGGTGAGTTCTGGGATGAGGTGACGGCCTGGCGCAAGAGCACGGGCACCCAGAGGGCCTCCCTTGCCTTTGTCTATTGTGTCATGTGGGTTGGAGAAAATCCTGGTCACCCATAACCCACTATCCACTTAGAGCCCTCGAGTCTTACCGATTTGTTCTTAACAATGGCATGAGCCTGTTCCTGCCTTTTTAGTTTAAGGCCCGTGAGCGTCTTTGGCAGCCTGTGGCTCTGGGTGGGCACCTGGCCTGCATTCACCTGCCCCGCCCTCACCTGCCCCGCCCTCACCTGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCTGTCCCCGCCCTCACCTGCCCCGCCCTCACCTGTCCCCGCCCCGCAGGGAGCTCGAGGAGCAGCACGGCATCCACTGCAACATGACGTTACTCTTCTCCTTCGCCCAGGCTGTGGCCTGTGCCGAGGCGGGTGTGACCCTCATCTCCCCATTTGTTGGGTGCATCCTTGATTGGCATGTGGCAAACACCGACAAGAAATCCTATGAGCCCCTGGAAGACCCTGGTGAGGGTCCCTCTGTGGTAATGGGGTAAGGGGAGCAGCCTCAGCAGCACCTCAGGCAGGAAGAGCCCGAGACGGAGCTGCCGCATCAACAAGCAGTGAGGTGCACAGGTCGGCGCGGGGCAGGCAGGGGTGGCGGCTCAAGGTAGTGCAGCCGGCAGGCACTGGGAGGGCAGGTGGGGTGGTACCTCTGCCGAAGCCTTCCTGGTCACAGCTTGGTCTCTTTCCAGGGGTAAAGAGTGTCACTAAAATCTACAACTACTACAAGAAGTTTAGCTACAAAACCATTGTCATGGGCGCCTCCTTCCGCAACACGGGCGAGATCAAAGCACTGGCCGGCTGTGACTTCCTCACCATCTCACCCAAGCTCCTGGGAGAGCTGCTGCAGGACAACGCCAAGCTGGTGCCTGTGCTCTCAGCCAAGGCGGGTGAGGCCCCACTGCCCAGCTGTGGCTCCTGCTCGGGCAAGGCCAGCACTGCCGTGCCACGCTGCCCTGTGGGTGATCCCTCCCACCTGTGGGGCGAGCTCATCTTGGGAGACATGAGGGTGAAGTAGACCTCAACGGAGGGCTTGGCTTTCCTAACACATCTCACTCAAGTCATCAGCCAAGGCTCTGTGGGCTGAACCCCACTTCCAGCGTGAGCCTTGCTGGGGCCAAGGCCTGGCCCTGGTGGGAGATGCTTGGGTGCAGCAGTTCAGGCCCTGAGCCCAAGGGGCCAAGGTGGGCAGGGACATGGAGCAGGCATGGAAGGCTGGTTCTTGTCCCCCAGCCCAAGCCAGTGACCTGGAAAAAATCCACCTGGATGAGAAGTCTTTCCGTTGGTTGCACAACGAGGACCAGATGGCTGTGGAGAAGCTCTCTGACGGGATCCGCAAGTTTGCCGCTGATGCAGTGAAGCTGGAGCGGATGCTGACAGTGAGTGTTGTGTGTGGGTACCTACATATGCCAAGCCCTATGAGAGCCCGGGCCTGGGCGTCGGGGTTCAAGCTGGGCAGAGTTAAAACTTTGGTGAGACCCCAGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGCCTGTTGAGGCCATCCCAGGGTGGAGGGTGCATGGCACCCAGGGGTGCCCCCAGGATGCTTGGTGGGTCCTGGCTCCTCTCTGGCCTGTGTGGTGACTGTGGTATTGGCCACCCTGTGGCCGTGGCCCCCACACAGAGTGCAGACCCCACAAGGGCCTCCCTCCTTCCACATGGTGCCTTGTGAGGCTTCAAGGTGCAGAAGGTAGGGTGGGGAGACACAGCTCGTGCTCTGTTTGTTTCTAGGAACGAATGTTCAATGCAGAGAATGGAAAGTAGCGCATCCCTGAGGCTGGACTCCAGATCTGCACCGCCGGCCAGCTGGGATCTGACTGCACGTGGCTTCTGATGAATCTTGCGTTTTTTACAAATTGGAGCAGGGACAGATCATAGATTTCTGATTTTATGTAAAATTTTGCCTAATACATTAAAGCAGTCACTTTTCCTGTGCTGTTTCATTCACTGTCTCCGTCCCCTTTGTCCCCTAAGCATCACCTGCCCCAGCTGTGATGGGCTGTAACCTAGGTTAGGACTCAGAGATGGGGTCGGGGTCAGGGTACCCCAGACACAACCCACCGCCTGGGCCACCACCTGGGAACCCAGGTCAGGGTTGTTGCTGGGAGGCCATTGGTGGAGTTAGGCAAAGGGCAGGCTTCTGATGCCAGGGGCTCCCAAGGTGCTGTCCCAGGTGGGTCACAGATGAACAGTCTCAAGCCTCCAAGCGTGGGCAGATGTGGATGCCTCTCAGAGGAGCAGTCCCAGCCGGACCCTCCCTCCTGCTCTTGAGGGCCTGGGCCTCCTGTTCCCTGTCAAGGCTGCCCTGCCCATGCCCCCCGCCCCCCTCCTGTCCTGTTGTGGCTGAGACCTTACATGGGATGCCAGGTTCCTGCATGGGGTCATGGTGCCACCTTGTGGGGGCAGCACGACATGCACCAGC
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Task1_train_14821
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Gene TALDO1 (transaldolase 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Deficiency of transaldolase
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AAGCTATCTTTCCACCTCAGTCCCCCAAGTGGCTGGGATGACAAGCACACATACCACTCCTGGGTAATTTCACCACGTTCCCCAGGCTGGTCTCGAACCCCTGGGCTCAAGAGATCTCTACCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGCCTGGCCTCATTTGTGTGTTTTTTTGTTTTTTTTTGTTTTTGAGACGGAGTTTCATTCTCGTCCATGCTGGAGTGCAATGGTGCTATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCAGGCGCCACCACTCCCGCCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCATGTTAGTCAGGCTGATCTCAAACTCCCAGCCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATCACAGGTTTGAGCCACTGCACCTGGCCGGACCATTTGTTTTTATATGTTGGAAAATACTCCATTTTATGGATAGGCCACAGTTATTCATCTGTTGGTGGACACCTGGTCAGTTTCCATCTCTTGAGCTGTGATGTATATTGCTGTGGTCGGTTTCCATTTCTCGGGCTGTGATGTATGCTGCTGCTCTGAACACATCTGCTGCTATGAACACATCTGCTGCTCTGAACACAGATGTGCAAGTTTTGTCCTGGACATGTGTTTTTGTTTCTCGTGGGCATATGCCTAGGAGTGGAGTCTCTGGGTGACTGCTGGAGGAACTGCAGGCTGTTTCCCAACTCAGCTGTGCCATCTGCTGTCCCCCTCGAACACCCCCGTGTGGCCATGTGGCAGAGGCGCCTGGGGAGGGAACTTGTGTCTGAAGGTGCCTGAGCAGAGCCTTGGCTGTCTCATCCCATGCCCCAGCCACATGGCAAAGTATGGGCACTGCTCCGTCCTTGGGGATCAACCCCAGGATGTCCAAAGTGCACTGGGATTTGGGCAAGTGGCCTAGTGAGGCCAAGGGGCTCCTCTCAGCAGAAACCAGGGTGCTACGGGCCTGCTGCAGGGTGGCCCCAGGAATGGGTAGGGTGGAACAGGGTGAGGACTGGAATGTGGTCAGAGATGACTCAGTGGTTCTAGCCTGGGAGCTGAGCCCTGGTGAGTTCTGGGATGAGGTGACGGCCTGGCGCAAGAGCACGGGCACCCAGAGGGCCTCCCTTGCCTTTGTCTATTGTGTCATGTGGGTTGGAGAAAATCCTGGTCACCCATAACCCACTATCCACTTAGAGCCCTCGAGTCTTACCGATTTGTTCTTAACAATGGCATGAGCCTGTTCCTGCCTTTTTAGTTTAAGGCCCGTGAGCGTCTTTGGCAGCCTGTGGCTCTGGGTGGGCACCTGGCCTGCATTCACCTGCCCCGCCCTCACCTGCCCCGCCCTCACCTGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCTGTCCCCGCCCTCACCTGCCCCGCCCTCACCTGTCCCCGCCCCGCAGGGAGCTCGAGGAGCAGCACGGCATCCACTGCAACATGACGTTACTCTTCTCCTTCGCCCAGGCTGTGGCCTGTGCCGAGGCGGGTGTGACCCTCATCTCCCCATTTGTTGGGCGCATCCTTGATTGGCATGTGGCAAACACCGACAAGAAATCCTATGAGCCCCTGGAAGACCCTGGTGAGGGTCCCTCTGTGGTAATGGGGTAAGGGGAGCAGCCTCAGCAGCACCTCAGGCAGGAAGAGCCCGAGACGGAGCTGCCGCATCAACAAGCAGTGAGGTGCACAGGTCGGCGCGGGGCAGGCAGGGGTGGCGGCTCAAGGTAGTGCAGCCGGCAGGCACTGGGAGGGCAGGTGGGGTGGTACCTCTGCCGAAGCCTTCCTGGTCACAGCTTGGTCTCTTTCCAGGGGTAAAGAGTGTCACTAAAATCTACAACTACTACAAGAAGTTTAGCTACAAAACCATTGTCATGGGCGCCTCCTTCCGCAACACGGGCGAGATCAAAGCACTGGCCGGCTGTGACTTCCTCACCATCTCACCCAAGCTCCTGGGAGAGCTGCTGCAGGACAACGCCAAGCTGGTGCCTGTGCTCTCAGCCAAGGCGGGTGAGGCCCCACTGCCCAGCTGTGGCTCCTGCTCGGGCAAGGCCAGCACTGCCGTGCCACGCTGCCCTGTGGGTGATCCCTCCCACCTGTGGGGCGAGCTCATCTTGGGAGACATGAGGGTGAAGTAGACCTCAACGGAGGGCTTGGCTTTCCTAACACATCTCACTCAAGTCATCAGCCAAGGCTCTGTGGGCTGAACCCCACTTCCAGCGTGAGCCTTGCTGGGGCCAAGGCCTGGCCCTGGTGGGAGATGCTTGGGTGCAGCAGTTCAGGCCCTGAGCCCAAGGGGCCAAGGTGGGCAGGGACATGGAGCAGGCATGGAAGGCTGGTTCTTGTCCCCCAGCCCAAGCCAGTGACCTGGAAAAAATCCACCTGGATGAGAAGTCTTTCCGTTGGTTGCACAACGAGGACCAGATGGCTGTGGAGAAGCTCTCTGACGGGATCCGCAAGTTTGCCGCTGATGCAGTGAAGCTGGAGCGGATGCTGACAGTGAGTGTTGTGTGTGGGTACCTACATATGCCAAGCCCTATGAGAGCCCGGGCCTGGGCGTCGGGGTTCAAGCTGGGCAGAGTTAAAACTTTGGTGAGACCCCAGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGCCTGTTGAGGCCATCCCAGGGTGGAGGGTGCATGGCACCCAGGGGTGCCCCCAGGATGCTTGGTGGGTCCTGGCTCCTCTCTGGCCTGTGTGGTGACTGTGGTATTGGCCACCCTGTGGCCGTGGCCCCCACACAGAGTGCAGACCCCACAAGGGCCTCCCTCCTTCCACATGGTGCCTTGTGAGGCTTCAAGGTGCAGAAGGTAGGGTGGGGAGACACAGCTCGTGCTCTGTTTGTTTCTAGGAACGAATGTTCAATGCAGAGAATGGAAAGTAGCGCATCCCTGAGGCTGGACTCCAGATCTGCACCGCCGGCCAGCTGGGATCTGACTGCACGTGGCTTCTGATGAATCTTGCGTTTTTTACAAATTGGAGCAGGGACAGATCATAGATTTCTGATTTTATGTAAAATTTTGCCTAATACATTAAAGCAGTCACTTTTCCTGTGCTGTTTCATTCACTGTCTCCGTCCCCTTTGTCCCCTAAGCATCACCTGCCCCAGCTGTGATGGGCTGTAACCTAGGTTAGGACTCAGAGATGGGGTCGGGGTCAGGGTACCCCAGACACAACCCACCGCCTGGGCCACCACCTGGGAACCCAGGTCAGGGTTGTTGCTGGGAGGCCATTGGTGGAGTTAGGCAAAGGGCAGGCTTCTGATGCCAGGGGCTCCCAAGGTGCTGTCCCAGGTGGGTCACAGATGAACAGTCTCAAGCCTCCAAGCGTGGGCAGATGTGGATGCCTCTCAGAGGAGCAGTCCCAGCCGGACCCTCCCTCCTGCTCTTGAGGGCCTGGGCCTCCTGTTCCCTGTCAAGGCTGCCCTGCCCATGCCCCCCGCCCCCCTCCTGTCCTGTTGTGGCTGAGACCTTACATGGGATGCCAGGTTCCTGCATGGGGTCATGGTGCCACCTTGTGGGGGCAGCACGACATGCACCAGCCACTGGCCTTGAAGTCGCCACCCCCATTTTTTTTGTTGTTTGAGACGGAATCTCACTCTGTCGCCCAGGCTGGAGTGCGCCCCGGGCAGTGGTGCGATCTCGGCTCCCTGCAACCTCCGCCTCCCAGTTTCAAGCGATTCTCTTTACCTCAGCCCCCACAAGTAGCTGGGATTACAGGCGCCTGCCATCATGCCCGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATTTCAGCCAAGCTGGTCTTGAACTCCTGACCTTGTGATCCACCCACCCCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTCCCTGTTTTTCAATACACGGCCTCACTCTGTTG
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AAGCTATCTTTCCACCTCAGTCCCCCAAGTGGCTGGGATGACAAGCACACATACCACTCCTGGGTAATTTCACCACGTTCCCCAGGCTGGTCTCGAACCCCTGGGCTCAAGAGATCTCTACCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGCCTGGCCTCATTTGTGTGTTTTTTTGTTTTTTTTTGTTTTTGAGACGGAGTTTCATTCTCGTCCATGCTGGAGTGCAATGGTGCTATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCAGGCGCCACCACTCCCGCCTAATTTTATATTTTTAGTAGAGATGGGGTTTCTCATGTTAGTCAGGCTGATCTCAAACTCCCAGCCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATCACAGGTTTGAGCCACTGCACCTGGCCGGACCATTTGTTTTTATATGTTGGAAAATACTCCATTTTATGGATAGGCCACAGTTATTCATCTGTTGGTGGACACCTGGTCAGTTTCCATCTCTTGAGCTGTGATGTATATTGCTGTGGTCGGTTTCCATTTCTCGGGCTGTGATGTATGCTGCTGCTCTGAACACATCTGCTGCTATGAACACATCTGCTGCTCTGAACACAGATGTGCAAGTTTTGTCCTGGACATGTGTTTTTGTTTCTCGTGGGCATATGCCTAGGAGTGGAGTCTCTGGGTGACTGCTGGAGGAACTGCAGGCTGTTTCCCAACTCAGCTGTGCCATCTGCTGTCCCCCTCGAACACCCCCGTGTGGCCATGTGGCAGAGGCGCCTGGGGAGGGAACTTGTGTCTGAAGGTGCCTGAGCAGAGCCTTGGCTGTCTCATCCCATGCCCCAGCCACATGGCAAAGTATGGGCACTGCTCCGTCCTTGGGGATCAACCCCAGGATGTCCAAAGTGCACTGGGATTTGGGCAAGTGGCCTAGTGAGGCCAAGGGGCTCCTCTCAGCAGAAACCAGGGTGCTACGGGCCTGCTGCAGGGTGGCCCCAGGAATGGGTAGGGTGGAACAGGGTGAGGACTGGAATGTGGTCAGAGATGACTCAGTGGTTCTAGCCTGGGAGCTGAGCCCTGGTGAGTTCTGGGATGAGGTGACGGCCTGGCGCAAGAGCACGGGCACCCAGAGGGCCTCCCTTGCCTTTGTCTATTGTGTCATGTGGGTTGGAGAAAATCCTGGTCACCCATAACCCACTATCCACTTAGAGCCCTCGAGTCTTACCGATTTGTTCTTAACAATGGCATGAGCCTGTTCCTGCCTTTTTAGTTTAAGGCCCGTGAGCGTCTTTGGCAGCCTGTGGCTCTGGGTGGGCACCTGGCCTGCATTCACCTGCCCCGCCCTCACCTGCCCCGCCCTCACCTGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCTGTCCCCGCCCTCACCTGCCCCGCCCTCACCTGTCCCCGCCCCGCAGGGAGCTCGAGGAGCAGCACGGCATCCACTGCAACATGACGTTACTCTTCTCCTTCGCCCAGGCTGTGGCCTGTGCCGAGGCGGGTGTGACCCTCATCTCCCCATTTGTTGGGCGCATCCTTGATTGGCATGTGGCAAACACCGACAAGAAATCCTATGAGCCCCTGGAAGACCCTGGTGAGGGTCCCTCTGTGGTAATGGGGTAAGGGGAGCAGCCTCAGCAGCACCTCAGGCAGGAAGAGCCCGAGACGGAGCTGCCGCATCAACAAGCAGTGAGGTGCACAGGTCGGCGCGGGGCAGGCAGGGGTGGCGGCTCAAGGTAGTGCAGCCGGCAGGCACTGGGAGGGCAGGTGGGGTGGTACCTCTGCCGAAGCCTTCCTGGTCACAGCTTGGTCTCTTTCCAGGGGTAAAGAGTGTCACTAAAATCTACAACTACTACAAGAAGTTTAGCTACAAAACCATTGTCATGGGCGCCTCCTTCGGCAACACGGGCGAGATCAAAGCACTGGCCGGCTGTGACTTCCTCACCATCTCACCCAAGCTCCTGGGAGAGCTGCTGCAGGACAACGCCAAGCTGGTGCCTGTGCTCTCAGCCAAGGCGGGTGAGGCCCCACTGCCCAGCTGTGGCTCCTGCTCGGGCAAGGCCAGCACTGCCGTGCCACGCTGCCCTGTGGGTGATCCCTCCCACCTGTGGGGCGAGCTCATCTTGGGAGACATGAGGGTGAAGTAGACCTCAACGGAGGGCTTGGCTTTCCTAACACATCTCACTCAAGTCATCAGCCAAGGCTCTGTGGGCTGAACCCCACTTCCAGCGTGAGCCTTGCTGGGGCCAAGGCCTGGCCCTGGTGGGAGATGCTTGGGTGCAGCAGTTCAGGCCCTGAGCCCAAGGGGCCAAGGTGGGCAGGGACATGGAGCAGGCATGGAAGGCTGGTTCTTGTCCCCCAGCCCAAGCCAGTGACCTGGAAAAAATCCACCTGGATGAGAAGTCTTTCCGTTGGTTGCACAACGAGGACCAGATGGCTGTGGAGAAGCTCTCTGACGGGATCCGCAAGTTTGCCGCTGATGCAGTGAAGCTGGAGCGGATGCTGACAGTGAGTGTTGTGTGTGGGTACCTACATATGCCAAGCCCTATGAGAGCCCGGGCCTGGGCGTCGGGGTTCAAGCTGGGCAGAGTTAAAACTTTGGTGAGACCCCAGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGCCTGTTGAGGCCATCCCAGGGTGGAGGGTGCATGGCACCCAGGGGTGCCCCCAGGATGCTTGGTGGGTCCTGGCTCCTCTCTGGCCTGTGTGGTGACTGTGGTATTGGCCACCCTGTGGCCGTGGCCCCCACACAGAGTGCAGACCCCACAAGGGCCTCCCTCCTTCCACATGGTGCCTTGTGAGGCTTCAAGGTGCAGAAGGTAGGGTGGGGAGACACAGCTCGTGCTCTGTTTGTTTCTAGGAACGAATGTTCAATGCAGAGAATGGAAAGTAGCGCATCCCTGAGGCTGGACTCCAGATCTGCACCGCCGGCCAGCTGGGATCTGACTGCACGTGGCTTCTGATGAATCTTGCGTTTTTTACAAATTGGAGCAGGGACAGATCATAGATTTCTGATTTTATGTAAAATTTTGCCTAATACATTAAAGCAGTCACTTTTCCTGTGCTGTTTCATTCACTGTCTCCGTCCCCTTTGTCCCCTAAGCATCACCTGCCCCAGCTGTGATGGGCTGTAACCTAGGTTAGGACTCAGAGATGGGGTCGGGGTCAGGGTACCCCAGACACAACCCACCGCCTGGGCCACCACCTGGGAACCCAGGTCAGGGTTGTTGCTGGGAGGCCATTGGTGGAGTTAGGCAAAGGGCAGGCTTCTGATGCCAGGGGCTCCCAAGGTGCTGTCCCAGGTGGGTCACAGATGAACAGTCTCAAGCCTCCAAGCGTGGGCAGATGTGGATGCCTCTCAGAGGAGCAGTCCCAGCCGGACCCTCCCTCCTGCTCTTGAGGGCCTGGGCCTCCTGTTCCCTGTCAAGGCTGCCCTGCCCATGCCCCCCGCCCCCCTCCTGTCCTGTTGTGGCTGAGACCTTACATGGGATGCCAGGTTCCTGCATGGGGTCATGGTGCCACCTTGTGGGGGCAGCACGACATGCACCAGCCACTGGCCTTGAAGTCGCCACCCCCATTTTTTTTGTTGTTTGAGACGGAATCTCACTCTGTCGCCCAGGCTGGAGTGCGCCCCGGGCAGTGGTGCGATCTCGGCTCCCTGCAACCTCCGCCTCCCAGTTTCAAGCGATTCTCTTTACCTCAGCCCCCACAAGTAGCTGGGATTACAGGCGCCTGCCATCATGCCCGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATTTCAGCCAAGCTGGTCTTGAACTCCTGACCTTGTGATCCACCCACCCCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTCCCTGTTTTTCAATACACGGCCTCACTCTGTTG
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Task1_train_14822
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A variant affecting Chromosome 11, within the gene TALDO1 (transaldolase 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Deficiency of transaldolase
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GACACCTGGTCAGTTTCCATCTCTTGAGCTGTGATGTATATTGCTGTGGTCGGTTTCCATTTCTCGGGCTGTGATGTATGCTGCTGCTCTGAACACATCTGCTGCTATGAACACATCTGCTGCTCTGAACACAGATGTGCAAGTTTTGTCCTGGACATGTGTTTTTGTTTCTCGTGGGCATATGCCTAGGAGTGGAGTCTCTGGGTGACTGCTGGAGGAACTGCAGGCTGTTTCCCAACTCAGCTGTGCCATCTGCTGTCCCCCTCGAACACCCCCGTGTGGCCATGTGGCAGAGGCGCCTGGGGAGGGAACTTGTGTCTGAAGGTGCCTGAGCAGAGCCTTGGCTGTCTCATCCCATGCCCCAGCCACATGGCAAAGTATGGGCACTGCTCCGTCCTTGGGGATCAACCCCAGGATGTCCAAAGTGCACTGGGATTTGGGCAAGTGGCCTAGTGAGGCCAAGGGGCTCCTCTCAGCAGAAACCAGGGTGCTACGGGCCTGCTGCAGGGTGGCCCCAGGAATGGGTAGGGTGGAACAGGGTGAGGACTGGAATGTGGTCAGAGATGACTCAGTGGTTCTAGCCTGGGAGCTGAGCCCTGGTGAGTTCTGGGATGAGGTGACGGCCTGGCGCAAGAGCACGGGCACCCAGAGGGCCTCCCTTGCCTTTGTCTATTGTGTCATGTGGGTTGGAGAAAATCCTGGTCACCCATAACCCACTATCCACTTAGAGCCCTCGAGTCTTACCGATTTGTTCTTAACAATGGCATGAGCCTGTTCCTGCCTTTTTAGTTTAAGGCCCGTGAGCGTCTTTGGCAGCCTGTGGCTCTGGGTGGGCACCTGGCCTGCATTCACCTGCCCCGCCCTCACCTGCCCCGCCCTCACCTGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCTGTCCCCGCCCTCACCTGCCCCGCCCTCACCTGTCCCCGCCCCGCAGGGAGCTCGAGGAGCAGCACGGCATCCACTGCAACATGACGTTACTCTTCTCCTTCGCCCAGGCTGTGGCCTGTGCCGAGGCGGGTGTGACCCTCATCTCCCCATTTGTTGGGCGCATCCTTGATTGGCATGTGGCAAACACCGACAAGAAATCCTATGAGCCCCTGGAAGACCCTGGTGAGGGTCCCTCTGTGGTAATGGGGTAAGGGGAGCAGCCTCAGCAGCACCTCAGGCAGGAAGAGCCCGAGACGGAGCTGCCGCATCAACAAGCAGTGAGGTGCACAGGTCGGCGCGGGGCAGGCAGGGGTGGCGGCTCAAGGTAGTGCAGCCGGCAGGCACTGGGAGGGCAGGTGGGGTGGTACCTCTGCCGAAGCCTTCCTGGTCACAGCTTGGTCTCTTTCCAGGGGTAAAGAGTGTCACTAAAATCTACAACTACTACAAGAAGTTTAGCTACAAAACCATTGTCATGGGCGCCTCCTTCCGCAACACGGGCGAGATCAAAGCACTGGCCGGCTGTGACTTCCTCACCATCTCACCCAAGCTCCTGGGAGAGCTGCTGCAGGACAACGCCAAGCTGGTGCCTGTGCTCTCAGCCAAGGCGGGTGAGGCCCCACTGCCCAGCTGTGGCTCCTGCTCGGGCAAGGCCAGCACTGCCGTGCCACGCTGCCCTGTGGGTGATCCCTCCCACCTGTGGGGCGAGCTCATCTTGGGAGACATGAGGGTGAAGTAGACCTCAACGGAGGGCTTGGCTTTCCTAACACATCTCACTCAAGTCATCAGCCAAGGCTCTGTGGGCTGAACCCCACTTCCAGCGTGAGCCTTGCTGGGGCCAAGGCCTGGCCCTGGTGGGAGATGCTTGGGTGCAGCAGTTCAGGCCCTGAGCCCAAGGGGCCAAGGTGGGCAGGGACATGGAGCAGGCATGGAAGGCTGGTTCTTGTCCCCCAGCCCAAGCCAGTGACCTGGAAAAAATCCACCTGGATGAGAAGTCTTTCCGTTGGTTGCACAACGAGGACCAGATGGCTGTGGAGAAGCTCTCTGACGGGATCCGCAAGTTTGCCGCTGATGCAGTGAAGCTGGAGCGGATGCTGACAGTGAGTGTTGTGTGTGGGTACCTACATATGCCAAGCCCTATGAGAGCCCGGGCCTGGGCGTCGGGGTTCAAGCTGGGCAGAGTTAAAACTTTGGTGAGACCCCAGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGCCTGTTGAGGCCATCCCAGGGTGGAGGGTGCATGGCACCCAGGGGTGCCCCCAGGATGCTTGGTGGGTCCTGGCTCCTCTCTGGCCTGTGTGGTGACTGTGGTATTGGCCACCCTGTGGCCGTGGCCCCCACACAGAGTGCAGACCCCACAAGGGCCTCCCTCCTTCCACATGGTGCCTTGTGAGGCTTCAAGGTGCAGAAGGTAGGGTGGGGAGACACAGCTCGTGCTCTGTTTGTTTCTAGGAACGAATGTTCAATGCAGAGAATGGAAAGTAGCGCATCCCTGAGGCTGGACTCCAGATCTGCACCGCCGGCCAGCTGGGATCTGACTGCACGTGGCTTCTGATGAATCTTGCGTTTTTTACAAATTGGAGCAGGGACAGATCATAGATTTCTGATTTTATGTAAAATTTTGCCTAATACATTAAAGCAGTCACTTTTCCTGTGCTGTTTCATTCACTGTCTCCGTCCCCTTTGTCCCCTAAGCATCACCTGCCCCAGCTGTGATGGGCTGTAACCTAGGTTAGGACTCAGAGATGGGGTCGGGGTCAGGGTACCCCAGACACAACCCACCGCCTGGGCCACCACCTGGGAACCCAGGTCAGGGTTGTTGCTGGGAGGCCATTGGTGGAGTTAGGCAAAGGGCAGGCTTCTGATGCCAGGGGCTCCCAAGGTGCTGTCCCAGGTGGGTCACAGATGAACAGTCTCAAGCCTCCAAGCGTGGGCAGATGTGGATGCCTCTCAGAGGAGCAGTCCCAGCCGGACCCTCCCTCCTGCTCTTGAGGGCCTGGGCCTCCTGTTCCCTGTCAAGGCTGCCCTGCCCATGCCCCCCGCCCCCCTCCTGTCCTGTTGTGGCTGAGACCTTACATGGGATGCCAGGTTCCTGCATGGGGTCATGGTGCCACCTTGTGGGGGCAGCACGACATGCACCAGCCACTGGCCTTGAAGTCGCCACCCCCATTTTTTTTGTTGTTTGAGACGGAATCTCACTCTGTCGCCCAGGCTGGAGTGCGCCCCGGGCAGTGGTGCGATCTCGGCTCCCTGCAACCTCCGCCTCCCAGTTTCAAGCGATTCTCTTTACCTCAGCCCCCACAAGTAGCTGGGATTACAGGCGCCTGCCATCATGCCCGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATTTCAGCCAAGCTGGTCTTGAACTCCTGACCTTGTGATCCACCCACCCCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTCCCTGTTTTTCAATACACGGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGTAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCCGCCTGTAGTTGAGACTACAGGCGCGCACCACCATGCATGGCTAATTTTCTATTTTTTGTAGAGATGGGGGGTCTCACCACACTGCCTAGGCTGGTCTCGAACTCCTAGGCTCATGCGATCCTCCTTCTGCGGCCTCCTAAAGTGCAGGGATTACAGGCCTGAGCCACTGCACCCGGCCACCTTTACGGATCCTACAGCACTGGGCTGTAGGATGGAGCTGCAGCTTCTCACCCTGAACCTAAAACAAGCTACCCTACCTTACACCAGCCATCTGGCCACTGCCCCTCAACTCCAGTCTGGGTTGGGCATGCCCGCCCATCCAGGGTGCAAGAGGGGACAACTCGGGCAGAGCAGCAGGCCAGGGAGGCAGCTGGGCTGCCAGTGCCCTTGATCAAGACCAGTGCAGGGCTCCTCCTGGGGTGGAGAGCTGAGTGGGCAGAGCCCTCCCCACACCAACCCCCACTGCTGAGGAGTCCCTCCCACCCTT
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GACACCTGGTCAGTTTCCATCTCTTGAGCTGTGATGTATATTGCTGTGGTCGGTTTCCATTTCTCGGGCTGTGATGTATGCTGCTGCTCTGAACACATCTGCTGCTATGAACACATCTGCTGCTCTGAACACAGATGTGCAAGTTTTGTCCTGGACATGTGTTTTTGTTTCTCGTGGGCATATGCCTAGGAGTGGAGTCTCTGGGTGACTGCTGGAGGAACTGCAGGCTGTTTCCCAACTCAGCTGTGCCATCTGCTGTCCCCCTCGAACACCCCCGTGTGGCCATGTGGCAGAGGCGCCTGGGGAGGGAACTTGTGTCTGAAGGTGCCTGAGCAGAGCCTTGGCTGTCTCATCCCATGCCCCAGCCACATGGCAAAGTATGGGCACTGCTCCGTCCTTGGGGATCAACCCCAGGATGTCCAAAGTGCACTGGGATTTGGGCAAGTGGCCTAGTGAGGCCAAGGGGCTCCTCTCAGCAGAAACCAGGGTGCTACGGGCCTGCTGCAGGGTGGCCCCAGGAATGGGTAGGGTGGAACAGGGTGAGGACTGGAATGTGGTCAGAGATGACTCAGTGGTTCTAGCCTGGGAGCTGAGCCCTGGTGAGTTCTGGGATGAGGTGACGGCCTGGCGCAAGAGCACGGGCACCCAGAGGGCCTCCCTTGCCTTTGTCTATTGTGTCATGTGGGTTGGAGAAAATCCTGGTCACCCATAACCCACTATCCACTTAGAGCCCTCGAGTCTTACCGATTTGTTCTTAACAATGGCATGAGCCTGTTCCTGCCTTTTTAGTTTAAGGCCCGTGAGCGTCTTTGGCAGCCTGTGGCTCTGGGTGGGCACCTGGCCTGCATTCACCTGCCCCGCCCTCACCTGCCCCGCCCTCACCTGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCTGTCCCCGCCCTCACCTGCCCCGCCCTCACCTGTCCCCGCCCCGCAGGGAGCTCGAGGAGCAGCACGGCATCCACTGCAACATGACGTTACTCTTCTCCTTCGCCCAGGCTGTGGCCTGTGCCGAGGCGGGTGTGACCCTCATCTCCCCATTTGTTGGGCGCATCCTTGATTGGCATGTGGCAAACACCGACAAGAAATCCTATGAGCCCCTGGAAGACCCTGGTGAGGGTCCCTCTGTGGTAATGGGGTAAGGGGAGCAGCCTCAGCAGCACCTCAGGCAGGAAGAGCCCGAGACGGAGCTGCCGCATCAACAAGCAGTGAGGTGCACAGGTCGGCGCGGGGCAGGCAGGGGTGGCGGCTCAAGGTAGTGCAGCCGGCAGGCACTGGGAGGGCAGGTGGGGTGGTACCTCTGCCGAAGCCTTCCTGGTCACAGCTTGGTCTCTTTCCAGGGGTAAAGAGTGTCACTAAAATCTACAACTACTACAAGAAGTTTAGCTACAAAACCATTGTCATGGGCGCCTCCTTCCGCAACACGGGCGAGATCAAAGCACTGGCCGGCTGTGACTTCCTCACCATCTCACCCAAGCTCCTGGGAGAGCTGCTGCAGGACAACGCCAAGCTGGTGCCTGTGCTCTCAGCCAAGGCGGGTGAGGCCCCACTGCCCAGCTGTGGCTCCTGCTCGGGCAAGGCCAGCACTGCCGTGCCACGCTGCCCTGTGGGTGATCCCTCCCACCTGTGGGGCGAGCTCATCTTGGGAGACATGAGGGTGAAGTAGACCTCAACGGAGGGCTTGGCTTTCCTAACACATCTCACTCAAGTCATCAGCCAAGGCTCTGTGGGCTGAACCCCACTTCCAGCGTGAGCCTTGCTGGGGCCAAGGCCTGGCCCTGGTGGGAGATGCTTGGGTGCAGCAGTTCAGGCCCTGAGCCCAAGGGGCCAAGGTGGGCAGGGACATGGAGCAGGCATGGAAGGCTGGTTCTTGTCCCCCAGCCCAAGCCAGTGACCTGGAAAAAATCCACCTGGATGAGAAGTCTTTCCGTTGGTTGCACAACGAGGACCAGATGGCTGTGGAGAAGCTCTCTGACTGGATCCGCAAGTTTGCCGCTGATGCAGTGAAGCTGGAGCGGATGCTGACAGTGAGTGTTGTGTGTGGGTACCTACATATGCCAAGCCCTATGAGAGCCCGGGCCTGGGCGTCGGGGTTCAAGCTGGGCAGAGTTAAAACTTTGGTGAGACCCCAGGTCTCATTCACGTGCTGTCCAGCAAGTGGGGCCTGTTGAGGCCATCCCAGGGTGGAGGGTGCATGGCACCCAGGGGTGCCCCCAGGATGCTTGGTGGGTCCTGGCTCCTCTCTGGCCTGTGTGGTGACTGTGGTATTGGCCACCCTGTGGCCGTGGCCCCCACACAGAGTGCAGACCCCACAAGGGCCTCCCTCCTTCCACATGGTGCCTTGTGAGGCTTCAAGGTGCAGAAGGTAGGGTGGGGAGACACAGCTCGTGCTCTGTTTGTTTCTAGGAACGAATGTTCAATGCAGAGAATGGAAAGTAGCGCATCCCTGAGGCTGGACTCCAGATCTGCACCGCCGGCCAGCTGGGATCTGACTGCACGTGGCTTCTGATGAATCTTGCGTTTTTTACAAATTGGAGCAGGGACAGATCATAGATTTCTGATTTTATGTAAAATTTTGCCTAATACATTAAAGCAGTCACTTTTCCTGTGCTGTTTCATTCACTGTCTCCGTCCCCTTTGTCCCCTAAGCATCACCTGCCCCAGCTGTGATGGGCTGTAACCTAGGTTAGGACTCAGAGATGGGGTCGGGGTCAGGGTACCCCAGACACAACCCACCGCCTGGGCCACCACCTGGGAACCCAGGTCAGGGTTGTTGCTGGGAGGCCATTGGTGGAGTTAGGCAAAGGGCAGGCTTCTGATGCCAGGGGCTCCCAAGGTGCTGTCCCAGGTGGGTCACAGATGAACAGTCTCAAGCCTCCAAGCGTGGGCAGATGTGGATGCCTCTCAGAGGAGCAGTCCCAGCCGGACCCTCCCTCCTGCTCTTGAGGGCCTGGGCCTCCTGTTCCCTGTCAAGGCTGCCCTGCCCATGCCCCCCGCCCCCCTCCTGTCCTGTTGTGGCTGAGACCTTACATGGGATGCCAGGTTCCTGCATGGGGTCATGGTGCCACCTTGTGGGGGCAGCACGACATGCACCAGCCACTGGCCTTGAAGTCGCCACCCCCATTTTTTTTGTTGTTTGAGACGGAATCTCACTCTGTCGCCCAGGCTGGAGTGCGCCCCGGGCAGTGGTGCGATCTCGGCTCCCTGCAACCTCCGCCTCCCAGTTTCAAGCGATTCTCTTTACCTCAGCCCCCACAAGTAGCTGGGATTACAGGCGCCTGCCATCATGCCCGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATTTCAGCCAAGCTGGTCTTGAACTCCTGACCTTGTGATCCACCCACCCCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTCTCCCTGTTTTTCAATACACGGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGTAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCCGCCTGTAGTTGAGACTACAGGCGCGCACCACCATGCATGGCTAATTTTCTATTTTTTGTAGAGATGGGGGGTCTCACCACACTGCCTAGGCTGGTCTCGAACTCCTAGGCTCATGCGATCCTCCTTCTGCGGCCTCCTAAAGTGCAGGGATTACAGGCCTGAGCCACTGCACCCGGCCACCTTTACGGATCCTACAGCACTGGGCTGTAGGATGGAGCTGCAGCTTCTCACCCTGAACCTAAAACAAGCTACCCTACCTTACACCAGCCATCTGGCCACTGCCCCTCAACTCCAGTCTGGGTTGGGCATGCCCGCCCATCCAGGGTGCAAGAGGGGACAACTCGGGCAGAGCAGCAGGCCAGGGAGGCAGCTGGGCTGCCAGTGCCCTTGATCAAGACCAGTGCAGGGCTCCTCCTGGGGTGGAGAGCTGAGTGGGCAGAGCCCTCCCCACACCAACCCCCACTGCTGAGGAGTCCCTCCCACCCTT
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Task1_train_14823
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This gene mutation involves SLC25A22 (solute carrier family 25 member 22) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Early myoclonic encephalopathy
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GGAGAGCTCGGGAGTTTCCCACAATGCACTGCTCCCGGCGCAGGAGGGCGGGGAGGGGGAGGGGCGACCGGGCCCCGCCCCGCCGGGAACCGTGGGATCCGCAAACCCAGCTCCGCCTTAGATCCAGGGGTAGAAACTTAGGGTCCGAGAGAGCAACTGCGGGGTCCAAGTCCCATCTGGGACTGCCAGAGGCAGGAGGCGGGTCCCGCTCAGCATCCCCTCTAGGCCAGGGTGCCCCTTGGTCGGTGGGTGACGGGTCGGTGGGTGAGGGGTCGGTGGGTGGGTGCGCAGGCCTAGCCCTGCAGTCTGAAGGGAGCCAGTTATGGGAAGAGGGGACTGCCCTCCCCCGCCCCCAAACAGACCCCCAGACAGACAGCAGCATCTACTTAGAATATTTATTTATTCTCTGACATGACAAGACACAAAAAGTTACAACTTCTTAAAACTCTTCAAAAGAAAAAAATATAATTCTGTAAGCAGCAGCAGCAGCTTCCAAGGTTCTGATGTGACGGGAGGGGCAGCTCCCAGGAGCAACCGTGAACTGGGGGGGTCCAGGCCTGAGCCCCAGGTAGTGTCGCTGGGAAGGGGCCTCTGTGGAGGGCCCCGGTTTTGGGGACACAGCACCAGCACATCAGGGTCTGTCACCAACACGATCACATGGCCAGGGCGGGGCAGGGAGAGCTTCGGCTCACAGCAGGGATCGCCCGGTGGCAGGGGGGATGGGGCTTCTGAAGTGTGGTCAGGGGCCTTATGCCCGGAGGCGGGAAGGATGGGGCTTCTGCAGTGTACCCAGGGGCCTTATGCAGAGGCTGAAAAAGGAGGGTGGGCCCTGAGAGGACTTGGGGGTGTGGCAGCTCCTGGCCCTCCCTCCAGAGCAGGGCAGGCACCCTCAGGCTCCACACTGGTCCCAATGCCCGCCCTGCTCCCTGGCCAATCCCAGGCCAGGGTGGAGGACTCAGGAGAGACCAAGCTGGGTAAGTTAGTTCCTGGACGGGGTCAACAGAGCCTGGGGCACACACAGCACACAGAGCGCCTGGCCACGGCGGGAAGGGGGGCAGTCCCCAGCAGCCCCATCCCCAAGGGCCAGGCCAGATCCCCACAACACACACACGCATGCACACACACATACACACACACATGCACACAGACCTCACAATCTGGGCCCCAGCCTGGGGTGGGAGCTGAGGAGCCCACCAGAAAGTCCCACAGTGGGTGGCGGGCTTGCCCCAAGAGTCAGACCTCAGGGCAACCCCTCACTTGGGATTCCTGGCTCAACAGAGAGGGCAGGAGACCCCAGTCCTCTTGCAAGGCTGGCCAGGGAGGCAGAGTCAAGTCCTGCCAAGGCGACAAGAGCGGCTGGGGAAGGACGGAAGGGCTGGAGAGCCGCTTGGGTCCAGCAGATTCAATAAATAGGTTTGTGTGGGGTGCCTGTGTGGGCCAGGATGGCTGTGGAGACTGGAGCTGGTGGACTGGGGGTATGGTCCAGCCTGCCCGGCCCAGGCCCGGGGGCCCCCAGCCCAGAGACCAGCTCTGTCCCTGGGGGTGTTCAGGCCAGGGCAGGATTGGGGCAGGGGCTAGCTTGAGGAATGTAAAGATTTCTGCATTTTCTACATAAATGAGACATTGATCCCAACGGTGCAGGCAGCACCCCGGGGGGCTTGCGTGTGCACCACCTATGTGGACCCTGCACCCTGCCCCCTGCTGCCCCTGCCGACGGGAGGGCTGGGGAGGGGTCTTCCCTTGCTCCGTCCTGGGCTAGCTGCCTGGCTCCAGCCCCACACCGGCCCTGCCCAGCTGGCTGGGGTGGAGCGGGTGCTGGGCTCAGGCCTGGGGGTCCTGCAGCAGCCCCAGCAGGGACTCCGCGATGCCCAGGAAGTAGACCACCTGTGCGATGCCGAAAAGGGGCGCGATGACCAGCGCGCGGCAGTAGGCGCCCTTCAGGAAGGCCGAGGGGCCCTCGTGCCGCAGGATCTTCCTGTGGAGGAAGGACGAAAGGGTCAGCCCGGTACGCAGGCCCCCAGGCCCCACCCGCCGTGGGACCTCCCCACCTGGCACAGTCCAGGATCCCAGAGTAGGTGTCCTCGTTGACGCCTCGCTGAAGTGACTGGAGCCGCGTCTTCACCACTGCAAGGGGCGCTCGGGTCAGTGTGAGCCTGGCCAAGGGCTCAGTCCCGCCCCATCCCCAGCCGGGCGCCATCCCATGCACTGACCATCACAGGGGTTGACGGCCACAGCGGCGGCACTCCCAGCCACACAGCCGGCCAGGAAGGACACGTAGAAAGGCGACTTCTCCTCGGACGCCGGGCGGCCCAGCTGGTTCAGGTTGGCAAAGAGCGGGAAGTACACCACAGAGAAGGGGACATCCCTGTGGGGAGGGAGGTGGCCGTGGGGACAGGAGGTGGTGGGGTGGGCAGGCCGGCCTCCCCCTTCCCTCCCCCCACCTGCCCTGTGCCTCCTACCTGAGCAGCGTGGCCCCGAGTCCCTTGTAGAGACCGGCAATGCCACGGCTCCGCAGCAGGTCGCGGGTCAGCTGGGTGGCCGTGGGCCGAGGGGCAGCTGGAGCCTCCACTGAGGGCTGGGCACCCCCCTGGGCCGAGAGCTGGCCCTGGGCAGCCAGGATCTTCCTCTGGGCGGCTGGGGACAAAGAGGCTGCTGTCTCCTCTTCTGTGCGAACTGGGCAGGGGACACGCTCTGGCCCTCCCTGCGTCCCCACCCTCCCCTCGCCCTCACCTCTTCCCGCACCTCTGCCCTCTCCTCCCCCTCCCCCCGCCCTCACCAATGCGCCCTGCATCCTGCAGCTGGATCTTCAGCATCTCCATGGGCGTGGTCACGATCACCTGGCAGGTGCCAGCCCCACAGCCCGCCAGCATCTCTTTAAGCAGGGTCAGCTTCTGCCTGTGGTAGGGGCGGGGCCGCAGTAAGTGGGAAGAGACAGGTCTACCTGCCACCCTCGGGGCTGCCCACCATGCCTGGGCGCAGAGGATGGTGGGAGCCGTGGAGGCAGATGCAGGCCTGTGGGGGTACAGCCCCCAGCCTCCGCCACTGCAGCAGCAGGCAGGGAGGAGACCGATGGACAGACGGCCCCACAGGCAGGGGCCTGGGGAGGGCAGTGGGGCTGTCTGCGACAAAGGAAAATGGGAAATTGGGGGTCAAGTGCCCCAAAAAGGGGCTGCCCTTGCAGTCCCCCTCCAGTGATGGGGGAGCTGGTCAGTGCCCTCAGGCCAAGGGCTACCAAGCCAGAGCCCCACTGATTTGACATCTGCTTTGCTCCCCTGGTCAGGGGAAAGGAGGGAGGGTGCCCCACGAGGTCAAAGAAGCCCCAAGCAAGGGGCTGAAGACAGGCAGAGCCCCCAGGTGGGACCCAGCTGGCAGGGTGGACCCATCCTTTATCTGAAGCCAAAGACCCCTCGAGTGTCTGCCAGGCAGAACCCTCACCCGTCCTTAGAGAGCTGATGTCGGAAGAAGTCGTTGGCTGCCAGCTTGATGGCCTTCTCGGGGGTGACGAGGGTCAAGTTCACAGCAGCTCCTGTGGGGCAGGGGGTCAGCTGGGGGGACATGCTCGGTGGCCTGAGTGGGGAGGCGCTTGGCCAGGACTTGCCTCCTGGCTGGCAAAACCCTGTCCCAGTCACTCCTGGCCACCATCTGTTCTCTCACCCACATTTGGGCCTGGTGTGTGCCAGGTGGGGCGGGGCCAGGCAGGGATGGGGCAGCACCTCAGGCTCAGGCTCTCCCATGCCCACTGCAGCTCCATCTGTCTCTGATTCTGGGCAGCATCTTGCTGCTCAGGGCATGAGGACTGCCCCGGAGCCCCTGAGGCCTCCCTAGGATACCTCTCCCTCCCTGGAGGACAGATGGTGCTTGTGCTGGCAGGGGGCTGGGGCCAGAGGTCACAGGAGTGTGTGGTCTGGACTGGGCCAGAGCTCGGGGGAGGCTGTGGAGAGCCCCCATCTCAGTGCCGAAGGCTCAGGGCTGGAGAGCTTCTGCCAAATCTAGGCTCTGGATTGTGTCCTAAGCTGCTTTGCGGTAATGCCCCTTACTCCCTCCCATCCCCAGCCACAAACGGGGTCCAGCCTGGCCCAGAAGGCAGAGGCAGCTG
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GGAGAGCTCGGGAGTTTCCCACAATGCACTGCTCCCGGCGCAGGAGGGCGGGGAGGGGGAGGGGCGACCGGGCCCCGCCCCGCCGGGAACCGTGGGATCCGCAAACCCAGCTCCGCCTTAGATCCAGGGGTAGAAACTTAGGGTCCGAGAGAGCAACTGCGGGGTCCAAGTCCCATCTGGGACTGCCAGAGGCAGGAGGCGGGTCCCGCTCAGCATCCCCTCTAGGCCAGGGTGCCCCTTGGTCGGTGGGTGACGGGTCGGTGGGTGAGGGGTCGGTGGGTGGGTGCGCAGGCCTAGCCCTGCAGTCTGAAGGGAGCCAGTTATGGGAAGAGGGGACTGCCCTCCCCCGCCCCCAAACAGACCCCCAGACAGACAGCAGCATCTACTTAGAATATTTATTTATTCTCTGACATGACAAGACACAAAAAGTTACAACTTCTTAAAACTCTTCAAAAGAAAAAAATATAATTCTGTAAGCAGCAGCAGCAGCTTCCAAGGTTCTGATGTGACGGGAGGGGCAGCTCCCAGGAGCAACCGTGAACTGGGGGGGTCCAGGCCTGAGCCCCAGGTAGTGTCGCTGGGAAGGGGCCTCTGTGGAGGGCCCCGGTTTTGGGGACACAGCACCAGCACATCAGGGTCTGTCACCAACACGATCACATGGCCAGGGCGGGGCAGGGAGAGCTTCGGCTCACAGCAGGGATCGCCCGGTGGCAGGGGGGATGGGGCTTCTGAAGTGTGGTCAGGGGCCTTATGCCCGGAGGCGGGAAGGATGGGGCTTCTGCAGTGTACCCAGGGGCCTTATGCAGAGGCTGAAAAAGGAGGGTGGGCCCTGAGAGGACTTGGGGGTGTGGCAGCTCCTGGCCCTCCCTCCAGAGCAGGGCAGGCACCCTCAGGCTCCACACTGGTCCCAATGCCCGCCCTGCTCCCTGGCCAATCCCAGGCCAGGGTGGAGGACTCAGGAGAGACCAAGCTGGGTAAGTTAGTTCCTGGACGGGGTCAACAGAGCCTGGGGCACACACAGCACACAGAGCGCCTGGCCACGGCGGGAAGGGGGGCAGTCCCCAGCAGCCCCATCCCCAAGGGCCAGGCCAGATCCCCACAACACACACACGCATGCACACACACATACACACACACATGCACACAGACCTCACAATCTGGGCCCCAGCCTGGGGTGGGAGCTGAGGAGCCCACCAGAAAGTCCCACAGTGGGTGGCGGGCTTGCCCCAAGAGTCAGACCTCAGGGCAACCCCTCACTTGGGATTCCTGGCTCAACAGAGAGGGCAGGAGACCCCAGTCCTCTTGCAAGGCTGGCCAGGGAGGCAGAGTCAAGTCCTGCCAAGGCGACAAGAGCGGCTGGGGAAGGACGGAAGGGCTGGAGAGCCGCTTGGGTCCAGCAGATTCAATAAATAGGTTTGTGTGGGGTGCCTGTGTGGGCCAGGATGGCTGTGGAGACTGGAGCTGGTGGACTGGGGGTATGGTCCAGCCTGCCCGGCCCAGGCCCGGGGGCCCCCAGCCCAGAGACCAGCTCTGTCCCTGGGGGTGTTCAGGCCAGGGCAGGATTGGGGCAGGGGCTAGCTTGAGGAATGTAAAGATTTCTGCATTTTCTACATAAATGAGACATTGATCCCAACGGTGCAGGCAGCACCCCGGGGGGCTTGCGTGTGCACCACCTATGTGGACCCTGCACCCTGCCCCCTGCTGCCCCTGCCGACGGGAGGGCTGGGGAGGGGTCTTCCCTTGCTCCGTCCTGGGCTAGCTGCCTGGCTCCAGCCCCACACCGGCCCTGCCCAGCTGGCTGGGGTGGAGCGGGTGCTGGGCTCAGGCCTGGGGGTCCTGCAGCAGCCCCAGCAGGGACTCCGCGATGCCCAGGAAGTAGACCACCTGTGCGATGCCGAAAAGGGGCGCGATGACCAGCGCGCGGCAGTAGGCGCCCTTCAGGAAGGCCGAGGGGCCCTCGTGCCGCAGGATCTTCCTGTGGAGGAAGGACGAAAGGGTCAGCCCGGTACGCAGGCCCCCAGGCCCCACCCGCCGTGGGACCTCCCCACTTGGCACAGTCCAGGATCCCAGAGTAGGTGTCCTCGTTGACGCCTCGCTGAAGTGACTGGAGCCGCGTCTTCACCACTGCAAGGGGCGCTCGGGTCAGTGTGAGCCTGGCCAAGGGCTCAGTCCCGCCCCATCCCCAGCCGGGCGCCATCCCATGCACTGACCATCACAGGGGTTGACGGCCACAGCGGCGGCACTCCCAGCCACACAGCCGGCCAGGAAGGACACGTAGAAAGGCGACTTCTCCTCGGACGCCGGGCGGCCCAGCTGGTTCAGGTTGGCAAAGAGCGGGAAGTACACCACAGAGAAGGGGACATCCCTGTGGGGAGGGAGGTGGCCGTGGGGACAGGAGGTGGTGGGGTGGGCAGGCCGGCCTCCCCCTTCCCTCCCCCCACCTGCCCTGTGCCTCCTACCTGAGCAGCGTGGCCCCGAGTCCCTTGTAGAGACCGGCAATGCCACGGCTCCGCAGCAGGTCGCGGGTCAGCTGGGTGGCCGTGGGCCGAGGGGCAGCTGGAGCCTCCACTGAGGGCTGGGCACCCCCCTGGGCCGAGAGCTGGCCCTGGGCAGCCAGGATCTTCCTCTGGGCGGCTGGGGACAAAGAGGCTGCTGTCTCCTCTTCTGTGCGAACTGGGCAGGGGACACGCTCTGGCCCTCCCTGCGTCCCCACCCTCCCCTCGCCCTCACCTCTTCCCGCACCTCTGCCCTCTCCTCCCCCTCCCCCCGCCCTCACCAATGCGCCCTGCATCCTGCAGCTGGATCTTCAGCATCTCCATGGGCGTGGTCACGATCACCTGGCAGGTGCCAGCCCCACAGCCCGCCAGCATCTCTTTAAGCAGGGTCAGCTTCTGCCTGTGGTAGGGGCGGGGCCGCAGTAAGTGGGAAGAGACAGGTCTACCTGCCACCCTCGGGGCTGCCCACCATGCCTGGGCGCAGAGGATGGTGGGAGCCGTGGAGGCAGATGCAGGCCTGTGGGGGTACAGCCCCCAGCCTCCGCCACTGCAGCAGCAGGCAGGGAGGAGACCGATGGACAGACGGCCCCACAGGCAGGGGCCTGGGGAGGGCAGTGGGGCTGTCTGCGACAAAGGAAAATGGGAAATTGGGGGTCAAGTGCCCCAAAAAGGGGCTGCCCTTGCAGTCCCCCTCCAGTGATGGGGGAGCTGGTCAGTGCCCTCAGGCCAAGGGCTACCAAGCCAGAGCCCCACTGATTTGACATCTGCTTTGCTCCCCTGGTCAGGGGAAAGGAGGGAGGGTGCCCCACGAGGTCAAAGAAGCCCCAAGCAAGGGGCTGAAGACAGGCAGAGCCCCCAGGTGGGACCCAGCTGGCAGGGTGGACCCATCCTTTATCTGAAGCCAAAGACCCCTCGAGTGTCTGCCAGGCAGAACCCTCACCCGTCCTTAGAGAGCTGATGTCGGAAGAAGTCGTTGGCTGCCAGCTTGATGGCCTTCTCGGGGGTGACGAGGGTCAAGTTCACAGCAGCTCCTGTGGGGCAGGGGGTCAGCTGGGGGGACATGCTCGGTGGCCTGAGTGGGGAGGCGCTTGGCCAGGACTTGCCTCCTGGCTGGCAAAACCCTGTCCCAGTCACTCCTGGCCACCATCTGTTCTCTCACCCACATTTGGGCCTGGTGTGTGCCAGGTGGGGCGGGGCCAGGCAGGGATGGGGCAGCACCTCAGGCTCAGGCTCTCCCATGCCCACTGCAGCTCCATCTGTCTCTGATTCTGGGCAGCATCTTGCTGCTCAGGGCATGAGGACTGCCCCGGAGCCCCTGAGGCCTCCCTAGGATACCTCTCCCTCCCTGGAGGACAGATGGTGCTTGTGCTGGCAGGGGGCTGGGGCCAGAGGTCACAGGAGTGTGTGGTCTGGACTGGGCCAGAGCTCGGGGGAGGCTGTGGAGAGCCCCCATCTCAGTGCCGAAGGCTCAGGGCTGGAGAGCTTCTGCCAAATCTAGGCTCTGGATTGTGTCCTAAGCTGCTTTGCGGTAATGCCCCTTACTCCCTCCCATCCCCAGCCACAAACGGGGTCCAGCCTGGCCCAGAAGGCAGAGGCAGCTG
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Task1_train_14824
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An alteration has been detected in SLC25A22 (solute carrier family 25 member 22) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Developmental and epileptic encephalopathy, 3
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GCGGGTCCCGCTCAGCATCCCCTCTAGGCCAGGGTGCCCCTTGGTCGGTGGGTGACGGGTCGGTGGGTGAGGGGTCGGTGGGTGGGTGCGCAGGCCTAGCCCTGCAGTCTGAAGGGAGCCAGTTATGGGAAGAGGGGACTGCCCTCCCCCGCCCCCAAACAGACCCCCAGACAGACAGCAGCATCTACTTAGAATATTTATTTATTCTCTGACATGACAAGACACAAAAAGTTACAACTTCTTAAAACTCTTCAAAAGAAAAAAATATAATTCTGTAAGCAGCAGCAGCAGCTTCCAAGGTTCTGATGTGACGGGAGGGGCAGCTCCCAGGAGCAACCGTGAACTGGGGGGGTCCAGGCCTGAGCCCCAGGTAGTGTCGCTGGGAAGGGGCCTCTGTGGAGGGCCCCGGTTTTGGGGACACAGCACCAGCACATCAGGGTCTGTCACCAACACGATCACATGGCCAGGGCGGGGCAGGGAGAGCTTCGGCTCACAGCAGGGATCGCCCGGTGGCAGGGGGGATGGGGCTTCTGAAGTGTGGTCAGGGGCCTTATGCCCGGAGGCGGGAAGGATGGGGCTTCTGCAGTGTACCCAGGGGCCTTATGCAGAGGCTGAAAAAGGAGGGTGGGCCCTGAGAGGACTTGGGGGTGTGGCAGCTCCTGGCCCTCCCTCCAGAGCAGGGCAGGCACCCTCAGGCTCCACACTGGTCCCAATGCCCGCCCTGCTCCCTGGCCAATCCCAGGCCAGGGTGGAGGACTCAGGAGAGACCAAGCTGGGTAAGTTAGTTCCTGGACGGGGTCAACAGAGCCTGGGGCACACACAGCACACAGAGCGCCTGGCCACGGCGGGAAGGGGGGCAGTCCCCAGCAGCCCCATCCCCAAGGGCCAGGCCAGATCCCCACAACACACACACGCATGCACACACACATACACACACACATGCACACAGACCTCACAATCTGGGCCCCAGCCTGGGGTGGGAGCTGAGGAGCCCACCAGAAAGTCCCACAGTGGGTGGCGGGCTTGCCCCAAGAGTCAGACCTCAGGGCAACCCCTCACTTGGGATTCCTGGCTCAACAGAGAGGGCAGGAGACCCCAGTCCTCTTGCAAGGCTGGCCAGGGAGGCAGAGTCAAGTCCTGCCAAGGCGACAAGAGCGGCTGGGGAAGGACGGAAGGGCTGGAGAGCCGCTTGGGTCCAGCAGATTCAATAAATAGGTTTGTGTGGGGTGCCTGTGTGGGCCAGGATGGCTGTGGAGACTGGAGCTGGTGGACTGGGGGTATGGTCCAGCCTGCCCGGCCCAGGCCCGGGGGCCCCCAGCCCAGAGACCAGCTCTGTCCCTGGGGGTGTTCAGGCCAGGGCAGGATTGGGGCAGGGGCTAGCTTGAGGAATGTAAAGATTTCTGCATTTTCTACATAAATGAGACATTGATCCCAACGGTGCAGGCAGCACCCCGGGGGGCTTGCGTGTGCACCACCTATGTGGACCCTGCACCCTGCCCCCTGCTGCCCCTGCCGACGGGAGGGCTGGGGAGGGGTCTTCCCTTGCTCCGTCCTGGGCTAGCTGCCTGGCTCCAGCCCCACACCGGCCCTGCCCAGCTGGCTGGGGTGGAGCGGGTGCTGGGCTCAGGCCTGGGGGTCCTGCAGCAGCCCCAGCAGGGACTCCGCGATGCCCAGGAAGTAGACCACCTGTGCGATGCCGAAAAGGGGCGCGATGACCAGCGCGCGGCAGTAGGCGCCCTTCAGGAAGGCCGAGGGGCCCTCGTGCCGCAGGATCTTCCTGTGGAGGAAGGACGAAAGGGTCAGCCCGGTACGCAGGCCCCCAGGCCCCACCCGCCGTGGGACCTCCCCACCTGGCACAGTCCAGGATCCCAGAGTAGGTGTCCTCGTTGACGCCTCGCTGAAGTGACTGGAGCCGCGTCTTCACCACTGCAAGGGGCGCTCGGGTCAGTGTGAGCCTGGCCAAGGGCTCAGTCCCGCCCCATCCCCAGCCGGGCGCCATCCCATGCACTGACCATCACAGGGGTTGACGGCCACAGCGGCGGCACTCCCAGCCACACAGCCGGCCAGGAAGGACACGTAGAAAGGCGACTTCTCCTCGGACGCCGGGCGGCCCAGCTGGTTCAGGTTGGCAAAGAGCGGGAAGTACACCACAGAGAAGGGGACATCCCTGTGGGGAGGGAGGTGGCCGTGGGGACAGGAGGTGGTGGGGTGGGCAGGCCGGCCTCCCCCTTCCCTCCCCCCACCTGCCCTGTGCCTCCTACCTGAGCAGCGTGGCCCCGAGTCCCTTGTAGAGACCGGCAATGCCACGGCTCCGCAGCAGGTCGCGGGTCAGCTGGGTGGCCGTGGGCCGAGGGGCAGCTGGAGCCTCCACTGAGGGCTGGGCACCCCCCTGGGCCGAGAGCTGGCCCTGGGCAGCCAGGATCTTCCTCTGGGCGGCTGGGGACAAAGAGGCTGCTGTCTCCTCTTCTGTGCGAACTGGGCAGGGGACACGCTCTGGCCCTCCCTGCGTCCCCACCCTCCCCTCGCCCTCACCTCTTCCCGCACCTCTGCCCTCTCCTCCCCCTCCCCCCGCCCTCACCAATGCGCCCTGCATCCTGCAGCTGGATCTTCAGCATCTCCATGGGCGTGGTCACGATCACCTGGCAGGTGCCAGCCCCACAGCCCGCCAGCATCTCTTTAAGCAGGGTCAGCTTCTGCCTGTGGTAGGGGCGGGGCCGCAGTAAGTGGGAAGAGACAGGTCTACCTGCCACCCTCGGGGCTGCCCACCATGCCTGGGCGCAGAGGATGGTGGGAGCCGTGGAGGCAGATGCAGGCCTGTGGGGGTACAGCCCCCAGCCTCCGCCACTGCAGCAGCAGGCAGGGAGGAGACCGATGGACAGACGGCCCCACAGGCAGGGGCCTGGGGAGGGCAGTGGGGCTGTCTGCGACAAAGGAAAATGGGAAATTGGGGGTCAAGTGCCCCAAAAAGGGGCTGCCCTTGCAGTCCCCCTCCAGTGATGGGGGAGCTGGTCAGTGCCCTCAGGCCAAGGGCTACCAAGCCAGAGCCCCACTGATTTGACATCTGCTTTGCTCCCCTGGTCAGGGGAAAGGAGGGAGGGTGCCCCACGAGGTCAAAGAAGCCCCAAGCAAGGGGCTGAAGACAGGCAGAGCCCCCAGGTGGGACCCAGCTGGCAGGGTGGACCCATCCTTTATCTGAAGCCAAAGACCCCTCGAGTGTCTGCCAGGCAGAACCCTCACCCGTCCTTAGAGAGCTGATGTCGGAAGAAGTCGTTGGCTGCCAGCTTGATGGCCTTCTCGGGGGTGACGAGGGTCAAGTTCACAGCAGCTCCTGTGGGGCAGGGGGTCAGCTGGGGGGACATGCTCGGTGGCCTGAGTGGGGAGGCGCTTGGCCAGGACTTGCCTCCTGGCTGGCAAAACCCTGTCCCAGTCACTCCTGGCCACCATCTGTTCTCTCACCCACATTTGGGCCTGGTGTGTGCCAGGTGGGGCGGGGCCAGGCAGGGATGGGGCAGCACCTCAGGCTCAGGCTCTCCCATGCCCACTGCAGCTCCATCTGTCTCTGATTCTGGGCAGCATCTTGCTGCTCAGGGCATGAGGACTGCCCCGGAGCCCCTGAGGCCTCCCTAGGATACCTCTCCCTCCCTGGAGGACAGATGGTGCTTGTGCTGGCAGGGGGCTGGGGCCAGAGGTCACAGGAGTGTGTGGTCTGGACTGGGCCAGAGCTCGGGGGAGGCTGTGGAGAGCCCCCATCTCAGTGCCGAAGGCTCAGGGCTGGAGAGCTTCTGCCAAATCTAGGCTCTGGATTGTGTCCTAAGCTGCTTTGCGGTAATGCCCCTTACTCCCTCCCATCCCCAGCCACAAACGGGGTCCAGCCTGGCCCAGAAGGCAGAGGCAGCTGTGGCCACCAGAGAAGAGACAGATGTACCATGGCATCCCACGCACCAGGCACTAAGTGGGGGTGGGGAGCTGCCACGGGAGAGGCTGAGAACTACCACTCACCAGAGATCCAGTCCCCCCTGCACAGGCACAGCCCCCACAAACACGTCCACGCTCACACACCAGGCCCAGGCTGGCCGCCCTGCCCTGCCTCCCCCAC
|
GCGGGTCCCGCTCAGCATCCCCTCTAGGCCAGGGTGCCCCTTGGTCGGTGGGTGACGGGTCGGTGGGTGAGGGGTCGGTGGGTGGGTGCGCAGGCCTAGCCCTGCAGTCTGAAGGGAGCCAGTTATGGGAAGAGGGGACTGCCCTCCCCCGCCCCCAAACAGACCCCCAGACAGACAGCAGCATCTACTTAGAATATTTATTTATTCTCTGACATGACAAGACACAAAAAGTTACAACTTCTTAAAACTCTTCAAAAGAAAAAAATATAATTCTGTAAGCAGCAGCAGCAGCTTCCAAGGTTCTGATGTGACGGGAGGGGCAGCTCCCAGGAGCAACCGTGAACTGGGGGGGTCCAGGCCTGAGCCCCAGGTAGTGTCGCTGGGAAGGGGCCTCTGTGGAGGGCCCCGGTTTTGGGGACACAGCACCAGCACATCAGGGTCTGTCACCAACACGATCACATGGCCAGGGCGGGGCAGGGAGAGCTTCGGCTCACAGCAGGGATCGCCCGGTGGCAGGGGGGATGGGGCTTCTGAAGTGTGGTCAGGGGCCTTATGCCCGGAGGCGGGAAGGATGGGGCTTCTGCAGTGTACCCAGGGGCCTTATGCAGAGGCTGAAAAAGGAGGGTGGGCCCTGAGAGGACTTGGGGGTGTGGCAGCTCCTGGCCCTCCCTCCAGAGCAGGGCAGGCACCCTCAGGCTCCACACTGGTCCCAATGCCCGCCCTGCTCCCTGGCCAATCCCAGGCCAGGGTGGAGGACTCAGGAGAGACCAAGCTGGGTAAGTTAGTTCCTGGACGGGGTCAACAGAGCCTGGGGCACACACAGCACACAGAGCGCCTGGCCACGGCGGGAAGGGGGGCAGTCCCCAGCAGCCCCATCCCCAAGGGCCAGGCCAGATCCCCACAACACACACACGCATGCACACACACATACACACACACATGCACACAGACCTCACAATCTGGGCCCCAGCCTGGGGTGGGAGCTGAGGAGCCCACCAGAAAGTCCCACAGTGGGTGGCGGGCTTGCCCCAAGAGTCAGACCTCAGGGCAACCCCTCACTTGGGATTCCTGGCTCAACAGAGAGGGCAGGAGACCCCAGTCCTCTTGCAAGGCTGGCCAGGGAGGCAGAGTCAAGTCCTGCCAAGGCGACAAGAGCGGCTGGGGAAGGACGGAAGGGCTGGAGAGCCGCTTGGGTCCAGCAGATTCAATAAATAGGTTTGTGTGGGGTGCCTGTGTGGGCCAGGATGGCTGTGGAGACTGGAGCTGGTGGACTGGGGGTATGGTCCAGCCTGCCCGGCCCAGGCCCGGGGGCCCCCAGCCCAGAGACCAGCTCTGTCCCTGGGGGTGTTCAGGCCAGGGCAGGATTGGGGCAGGGGCTAGCTTGAGGAATGTAAAGATTTCTGCATTTTCTACATAAATGAGACATTGATCCCAACGGTGCAGGCAGCACCCCGGGGGGCTTGCGTGTGCACCACCTATGTGGACCCTGCACCCTGCCCCCTGCTGCCCCTGCCGACGGGAGGGCTGGGGAGGGGTCTTCCCTTGCTCCGTCCTGGGCTAGCTGCCTGGCTCCAGCCCCACACCGGCCCTGCCCAGCTGGCTGGGGTGGAGCGGGTGCTGGGCTCAGGCCTGGGGGTCCTGCAGCAGCCCCAGCAGGGACTCCGCGATGCCCAGGAAGTAGACCACCTGTGCGATGCCGAAAAGGGGCGCGATGACCAGCGCGCGGCAGTAGGCGCCCTTCAGGAAGGCCGAGGGGCCCTCGTGCCGCAGGATCTTCCTGTGGAGGAAGGACGAAAGGGTCAGCCCGGTACGCAGGCCCCCAGGCCCCACCCGCCGTGGGACCTCCCCACCTGGCACAGTCCAGGATCCCAGAGTAGGTGTCCTCGTTGACGCCTCGCTGAAGTGACTGGAGCCGCGTCTTCACCACTGCAAGGGGCGCTCGGGTCAGTGTGAGCCTGGCCAAGGGCTCAGTCCCGCCCCATCCCCAGCCGGGCGCCATCCCATGCACTGACCATCACAGGGGTTGACGGCCACAGCGGCGGCACTCCAAGCCACACAGCCGGCCAGGAAGGACACGTAGAAAGGCGACTTCTCCTCGGACGCCGGGCGGCCCAGCTGGTTCAGGTTGGCAAAGAGCGGGAAGTACACCACAGAGAAGGGGACATCCCTGTGGGGAGGGAGGTGGCCGTGGGGACAGGAGGTGGTGGGGTGGGCAGGCCGGCCTCCCCCTTCCCTCCCCCCACCTGCCCTGTGCCTCCTACCTGAGCAGCGTGGCCCCGAGTCCCTTGTAGAGACCGGCAATGCCACGGCTCCGCAGCAGGTCGCGGGTCAGCTGGGTGGCCGTGGGCCGAGGGGCAGCTGGAGCCTCCACTGAGGGCTGGGCACCCCCCTGGGCCGAGAGCTGGCCCTGGGCAGCCAGGATCTTCCTCTGGGCGGCTGGGGACAAAGAGGCTGCTGTCTCCTCTTCTGTGCGAACTGGGCAGGGGACACGCTCTGGCCCTCCCTGCGTCCCCACCCTCCCCTCGCCCTCACCTCTTCCCGCACCTCTGCCCTCTCCTCCCCCTCCCCCCGCCCTCACCAATGCGCCCTGCATCCTGCAGCTGGATCTTCAGCATCTCCATGGGCGTGGTCACGATCACCTGGCAGGTGCCAGCCCCACAGCCCGCCAGCATCTCTTTAAGCAGGGTCAGCTTCTGCCTGTGGTAGGGGCGGGGCCGCAGTAAGTGGGAAGAGACAGGTCTACCTGCCACCCTCGGGGCTGCCCACCATGCCTGGGCGCAGAGGATGGTGGGAGCCGTGGAGGCAGATGCAGGCCTGTGGGGGTACAGCCCCCAGCCTCCGCCACTGCAGCAGCAGGCAGGGAGGAGACCGATGGACAGACGGCCCCACAGGCAGGGGCCTGGGGAGGGCAGTGGGGCTGTCTGCGACAAAGGAAAATGGGAAATTGGGGGTCAAGTGCCCCAAAAAGGGGCTGCCCTTGCAGTCCCCCTCCAGTGATGGGGGAGCTGGTCAGTGCCCTCAGGCCAAGGGCTACCAAGCCAGAGCCCCACTGATTTGACATCTGCTTTGCTCCCCTGGTCAGGGGAAAGGAGGGAGGGTGCCCCACGAGGTCAAAGAAGCCCCAAGCAAGGGGCTGAAGACAGGCAGAGCCCCCAGGTGGGACCCAGCTGGCAGGGTGGACCCATCCTTTATCTGAAGCCAAAGACCCCTCGAGTGTCTGCCAGGCAGAACCCTCACCCGTCCTTAGAGAGCTGATGTCGGAAGAAGTCGTTGGCTGCCAGCTTGATGGCCTTCTCGGGGGTGACGAGGGTCAAGTTCACAGCAGCTCCTGTGGGGCAGGGGGTCAGCTGGGGGGACATGCTCGGTGGCCTGAGTGGGGAGGCGCTTGGCCAGGACTTGCCTCCTGGCTGGCAAAACCCTGTCCCAGTCACTCCTGGCCACCATCTGTTCTCTCACCCACATTTGGGCCTGGTGTGTGCCAGGTGGGGCGGGGCCAGGCAGGGATGGGGCAGCACCTCAGGCTCAGGCTCTCCCATGCCCACTGCAGCTCCATCTGTCTCTGATTCTGGGCAGCATCTTGCTGCTCAGGGCATGAGGACTGCCCCGGAGCCCCTGAGGCCTCCCTAGGATACCTCTCCCTCCCTGGAGGACAGATGGTGCTTGTGCTGGCAGGGGGCTGGGGCCAGAGGTCACAGGAGTGTGTGGTCTGGACTGGGCCAGAGCTCGGGGGAGGCTGTGGAGAGCCCCCATCTCAGTGCCGAAGGCTCAGGGCTGGAGAGCTTCTGCCAAATCTAGGCTCTGGATTGTGTCCTAAGCTGCTTTGCGGTAATGCCCCTTACTCCCTCCCATCCCCAGCCACAAACGGGGTCCAGCCTGGCCCAGAAGGCAGAGGCAGCTGTGGCCACCAGAGAAGAGACAGATGTACCATGGCATCCCACGCACCAGGCACTAAGTGGGGGTGGGGAGCTGCCACGGGAGAGGCTGAGAACTACCACTCACCAGAGATCCAGTCCCCCCTGCACAGGCACAGCCCCCACAAACACGTCCACGCTCACACACCAGGCCCAGGCTGGCCGCCCTGCCCTGCCTCCCCCAC
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Task1_train_14825
|
A mutation found in SLC25A22 (solute carrier family 25 member 22) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Developmental and epileptic encephalopathy, 3
|
AAAAAGGAGGGTGGGCCCTGAGAGGACTTGGGGGTGTGGCAGCTCCTGGCCCTCCCTCCAGAGCAGGGCAGGCACCCTCAGGCTCCACACTGGTCCCAATGCCCGCCCTGCTCCCTGGCCAATCCCAGGCCAGGGTGGAGGACTCAGGAGAGACCAAGCTGGGTAAGTTAGTTCCTGGACGGGGTCAACAGAGCCTGGGGCACACACAGCACACAGAGCGCCTGGCCACGGCGGGAAGGGGGGCAGTCCCCAGCAGCCCCATCCCCAAGGGCCAGGCCAGATCCCCACAACACACACACGCATGCACACACACATACACACACACATGCACACAGACCTCACAATCTGGGCCCCAGCCTGGGGTGGGAGCTGAGGAGCCCACCAGAAAGTCCCACAGTGGGTGGCGGGCTTGCCCCAAGAGTCAGACCTCAGGGCAACCCCTCACTTGGGATTCCTGGCTCAACAGAGAGGGCAGGAGACCCCAGTCCTCTTGCAAGGCTGGCCAGGGAGGCAGAGTCAAGTCCTGCCAAGGCGACAAGAGCGGCTGGGGAAGGACGGAAGGGCTGGAGAGCCGCTTGGGTCCAGCAGATTCAATAAATAGGTTTGTGTGGGGTGCCTGTGTGGGCCAGGATGGCTGTGGAGACTGGAGCTGGTGGACTGGGGGTATGGTCCAGCCTGCCCGGCCCAGGCCCGGGGGCCCCCAGCCCAGAGACCAGCTCTGTCCCTGGGGGTGTTCAGGCCAGGGCAGGATTGGGGCAGGGGCTAGCTTGAGGAATGTAAAGATTTCTGCATTTTCTACATAAATGAGACATTGATCCCAACGGTGCAGGCAGCACCCCGGGGGGCTTGCGTGTGCACCACCTATGTGGACCCTGCACCCTGCCCCCTGCTGCCCCTGCCGACGGGAGGGCTGGGGAGGGGTCTTCCCTTGCTCCGTCCTGGGCTAGCTGCCTGGCTCCAGCCCCACACCGGCCCTGCCCAGCTGGCTGGGGTGGAGCGGGTGCTGGGCTCAGGCCTGGGGGTCCTGCAGCAGCCCCAGCAGGGACTCCGCGATGCCCAGGAAGTAGACCACCTGTGCGATGCCGAAAAGGGGCGCGATGACCAGCGCGCGGCAGTAGGCGCCCTTCAGGAAGGCCGAGGGGCCCTCGTGCCGCAGGATCTTCCTGTGGAGGAAGGACGAAAGGGTCAGCCCGGTACGCAGGCCCCCAGGCCCCACCCGCCGTGGGACCTCCCCACCTGGCACAGTCCAGGATCCCAGAGTAGGTGTCCTCGTTGACGCCTCGCTGAAGTGACTGGAGCCGCGTCTTCACCACTGCAAGGGGCGCTCGGGTCAGTGTGAGCCTGGCCAAGGGCTCAGTCCCGCCCCATCCCCAGCCGGGCGCCATCCCATGCACTGACCATCACAGGGGTTGACGGCCACAGCGGCGGCACTCCCAGCCACACAGCCGGCCAGGAAGGACACGTAGAAAGGCGACTTCTCCTCGGACGCCGGGCGGCCCAGCTGGTTCAGGTTGGCAAAGAGCGGGAAGTACACCACAGAGAAGGGGACATCCCTGTGGGGAGGGAGGTGGCCGTGGGGACAGGAGGTGGTGGGGTGGGCAGGCCGGCCTCCCCCTTCCCTCCCCCCACCTGCCCTGTGCCTCCTACCTGAGCAGCGTGGCCCCGAGTCCCTTGTAGAGACCGGCAATGCCACGGCTCCGCAGCAGGTCGCGGGTCAGCTGGGTGGCCGTGGGCCGAGGGGCAGCTGGAGCCTCCACTGAGGGCTGGGCACCCCCCTGGGCCGAGAGCTGGCCCTGGGCAGCCAGGATCTTCCTCTGGGCGGCTGGGGACAAAGAGGCTGCTGTCTCCTCTTCTGTGCGAACTGGGCAGGGGACACGCTCTGGCCCTCCCTGCGTCCCCACCCTCCCCTCGCCCTCACCTCTTCCCGCACCTCTGCCCTCTCCTCCCCCTCCCCCCGCCCTCACCAATGCGCCCTGCATCCTGCAGCTGGATCTTCAGCATCTCCATGGGCGTGGTCACGATCACCTGGCAGGTGCCAGCCCCACAGCCCGCCAGCATCTCTTTAAGCAGGGTCAGCTTCTGCCTGTGGTAGGGGCGGGGCCGCAGTAAGTGGGAAGAGACAGGTCTACCTGCCACCCTCGGGGCTGCCCACCATGCCTGGGCGCAGAGGATGGTGGGAGCCGTGGAGGCAGATGCAGGCCTGTGGGGGTACAGCCCCCAGCCTCCGCCACTGCAGCAGCAGGCAGGGAGGAGACCGATGGACAGACGGCCCCACAGGCAGGGGCCTGGGGAGGGCAGTGGGGCTGTCTGCGACAAAGGAAAATGGGAAATTGGGGGTCAAGTGCCCCAAAAAGGGGCTGCCCTTGCAGTCCCCCTCCAGTGATGGGGGAGCTGGTCAGTGCCCTCAGGCCAAGGGCTACCAAGCCAGAGCCCCACTGATTTGACATCTGCTTTGCTCCCCTGGTCAGGGGAAAGGAGGGAGGGTGCCCCACGAGGTCAAAGAAGCCCCAAGCAAGGGGCTGAAGACAGGCAGAGCCCCCAGGTGGGACCCAGCTGGCAGGGTGGACCCATCCTTTATCTGAAGCCAAAGACCCCTCGAGTGTCTGCCAGGCAGAACCCTCACCCGTCCTTAGAGAGCTGATGTCGGAAGAAGTCGTTGGCTGCCAGCTTGATGGCCTTCTCGGGGGTGACGAGGGTCAAGTTCACAGCAGCTCCTGTGGGGCAGGGGGTCAGCTGGGGGGACATGCTCGGTGGCCTGAGTGGGGAGGCGCTTGGCCAGGACTTGCCTCCTGGCTGGCAAAACCCTGTCCCAGTCACTCCTGGCCACCATCTGTTCTCTCACCCACATTTGGGCCTGGTGTGTGCCAGGTGGGGCGGGGCCAGGCAGGGATGGGGCAGCACCTCAGGCTCAGGCTCTCCCATGCCCACTGCAGCTCCATCTGTCTCTGATTCTGGGCAGCATCTTGCTGCTCAGGGCATGAGGACTGCCCCGGAGCCCCTGAGGCCTCCCTAGGATACCTCTCCCTCCCTGGAGGACAGATGGTGCTTGTGCTGGCAGGGGGCTGGGGCCAGAGGTCACAGGAGTGTGTGGTCTGGACTGGGCCAGAGCTCGGGGGAGGCTGTGGAGAGCCCCCATCTCAGTGCCGAAGGCTCAGGGCTGGAGAGCTTCTGCCAAATCTAGGCTCTGGATTGTGTCCTAAGCTGCTTTGCGGTAATGCCCCTTACTCCCTCCCATCCCCAGCCACAAACGGGGTCCAGCCTGGCCCAGAAGGCAGAGGCAGCTGTGGCCACCAGAGAAGAGACAGATGTACCATGGCATCCCACGCACCAGGCACTAAGTGGGGGTGGGGAGCTGCCACGGGAGAGGCTGAGAACTACCACTCACCAGAGATCCAGTCCCCCCTGCACAGGCACAGCCCCCACAAACACGTCCACGCTCACACACCAGGCCCAGGCTGGCCGCCCTGCCCTGCCTCCCCCACCGCTCCCTGCCACGACTCGCGGGCGCTACCCAGGCCTGCCCATATCGAGCCCAGCCGAGCCAAACCTCACCCCGGTACATGCCGAAGTAGCCCTCGGAGCGGACGGTCTTGATGAGGCAGTCGGACCTGTGGCCAAGGGGACAGGGTGAGCCAGGGCCAGCTGGGGCCAGCCGGAGGCCAGGGTCCCTGGACTGTCTAGGGCTGATAGAAGAGGCCAAGTCCTCAGCCCAGCCCCGACCCCAGTCCTGACCCACGTGGGATCTCCCCTAGGCCCGCCTGCCTCCCGTTTCCCTTCTGTCAAACAGGGTGGGGGGCACAGGAGCAGAGCCCCCACCTCTCCTGCTGCCACATGCTGGGCCCACTCCCCGCGACCGCCCGGCACACTCACATGCTCGTGTACACGCGCTGGCCGTTCTGCTGGTTCTGCAGCCTGGTCTTGGCCAGGTCGATGGGAAACACGCAGGTGACACCGATCAGCCCGGCGATGCCGCCATTGATGAGCTTGGCTGGCAGGCTGTGTGGACAGGGGTGTCAGGACCGGCTTCCTTGACCATGGGTCAGGGTGGGGGTGAGGCACGCAGCCAGGACTGGAGTCTGACCTGATCTGCTTATCA
|
AAAAAGGAGGGTGGGCCCTGAGAGGACTTGGGGGTGTGGCAGCTCCTGGCCCTCCCTCCAGAGCAGGGCAGGCACCCTCAGGCTCCACACTGGTCCCAATGCCCGCCCTGCTCCCTGGCCAATCCCAGGCCAGGGTGGAGGACTCAGGAGAGACCAAGCTGGGTAAGTTAGTTCCTGGACGGGGTCAACAGAGCCTGGGGCACACACAGCACACAGAGCGCCTGGCCACGGCGGGAAGGGGGGCAGTCCCCAGCAGCCCCATCCCCAAGGGCCAGGCCAGATCCCCACAACACACACACGCATGCACACACACATACACACACACATGCACACAGACCTCACAATCTGGGCCCCAGCCTGGGGTGGGAGCTGAGGAGCCCACCAGAAAGTCCCACAGTGGGTGGCGGGCTTGCCCCAAGAGTCAGACCTCAGGGCAACCCCTCACTTGGGATTCCTGGCTCAACAGAGAGGGCAGGAGACCCCAGTCCTCTTGCAAGGCTGGCCAGGGAGGCAGAGTCAAGTCCTGCCAAGGCGACAAGAGCGGCTGGGGAAGGACGGAAGGGCTGGAGAGCCGCTTGGGTCCAGCAGATTCAATAAATAGGTTTGTGTGGGGTGCCTGTGTGGGCCAGGATGGCTGTGGAGACTGGAGCTGGTGGACTGGGGGTATGGTCCAGCCTGCCCGGCCCAGGCCCGGGGGCCCCCAGCCCAGAGACCAGCTCTGTCCCTGGGGGTGTTCAGGCCAGGGCAGGATTGGGGCAGGGGCTAGCTTGAGGAATGTAAAGATTTCTGCATTTTCTACATAAATGAGACATTGATCCCAACGGTGCAGGCAGCACCCCGGGGGGCTTGCGTGTGCACCACCTATGTGGACCCTGCACCCTGCCCCCTGCTGCCCCTGCCGACGGGAGGGCTGGGGAGGGGTCTTCCCTTGCTCCGTCCTGGGCTAGCTGCCTGGCTCCAGCCCCACACCGGCCCTGCCCAGCTGGCTGGGGTGGAGCGGGTGCTGGGCTCAGGCCTGGGGGTCCTGCAGCAGCCCCAGCAGGGACTCCGCGATGCCCAGGAAGTAGACCACCTGTGCGATGCCGAAAAGGGGCGCGATGACCAGCGCGCGGCAGTAGGCGCCCTTCAGGAAGGCCGAGGGGCCCTCGTGCCGCAGGATCTTCCTGTGGAGGAAGGACGAAAGGGTCAGCCCGGTACGCAGGCCCCCAGGCCCCACCCGCCGTGGGACCTCCCCACCTGGCACAGTCCAGGATCCCAGAGTAGGTGTCCTCGTTGACGCCTCGCTGAAGTGACTGGAGCCGCGTCTTCACCACTGCAAGGGGCGCTCGGGTCAGTGTGAGCCTGGCCAAGGGCTCAGTCCCGCCCCATCCCCAGCCGGGCGCCATCCCATGCACTGACCATCACAGGGGTTGACGGCCACAGCGGCGGCACTCCCAGCCACACAGCCGGCCAGGAAGGACACGTAGAAAGGCGACTTCTCCTCGGACGCCGGGCGGCCCAGCTGGTTCAGGTTGGCAAAGAGCGGGAAGTACACCACAGAGAAGGGGACATCCCTGTGGGGAGGGAGGTGGCCGTGGGGACAGGAGGTGGTGGGGTGGGCAGGCCGGCCTCCCCCTTCCCTCCCCCCACCTGCCCTGTGCCTCCTACCTGAGCAGCGTGGCCCCGAGTCCCTTGTAGAGACCGGCAATGCCACGGCTCCGCAGCAGGTCGCGGGTCAGCTGGGTGGCCGTGGGCCGAGGGGCAGCTGGAGCCTCCACTGAGGGCTGGGCACCCCCCTGGGCCGAGAGCTGGCCCTGGGCAGCCAGGATCTTCCTCTGGGCGGCTGGGGACAAAGAGGCTGCTGTCTCCTCTTCTGTGCGAACTGGGCAGGGGACACGCTCTGGCCCTCCCTGCGTCCCCACCCTCCCCTCGCCCTCACCTCTTCCCGCACCTCTGCCCTCTCCTCCCCCTCCCCCCGCCCTCACCAATGCGCCCTGCATCCTGCAGCTGGATCTTCAGCATCTCCATGGGCGTGGTCACGATCACCTGGCAGGTGCCAGCCCCACAGCGCGCCAGCATCTCTTTAAGCAGGGTCAGCTTCTGCCTGTGGTAGGGGCGGGGCCGCAGTAAGTGGGAAGAGACAGGTCTACCTGCCACCCTCGGGGCTGCCCACCATGCCTGGGCGCAGAGGATGGTGGGAGCCGTGGAGGCAGATGCAGGCCTGTGGGGGTACAGCCCCCAGCCTCCGCCACTGCAGCAGCAGGCAGGGAGGAGACCGATGGACAGACGGCCCCACAGGCAGGGGCCTGGGGAGGGCAGTGGGGCTGTCTGCGACAAAGGAAAATGGGAAATTGGGGGTCAAGTGCCCCAAAAAGGGGCTGCCCTTGCAGTCCCCCTCCAGTGATGGGGGAGCTGGTCAGTGCCCTCAGGCCAAGGGCTACCAAGCCAGAGCCCCACTGATTTGACATCTGCTTTGCTCCCCTGGTCAGGGGAAAGGAGGGAGGGTGCCCCACGAGGTCAAAGAAGCCCCAAGCAAGGGGCTGAAGACAGGCAGAGCCCCCAGGTGGGACCCAGCTGGCAGGGTGGACCCATCCTTTATCTGAAGCCAAAGACCCCTCGAGTGTCTGCCAGGCAGAACCCTCACCCGTCCTTAGAGAGCTGATGTCGGAAGAAGTCGTTGGCTGCCAGCTTGATGGCCTTCTCGGGGGTGACGAGGGTCAAGTTCACAGCAGCTCCTGTGGGGCAGGGGGTCAGCTGGGGGGACATGCTCGGTGGCCTGAGTGGGGAGGCGCTTGGCCAGGACTTGCCTCCTGGCTGGCAAAACCCTGTCCCAGTCACTCCTGGCCACCATCTGTTCTCTCACCCACATTTGGGCCTGGTGTGTGCCAGGTGGGGCGGGGCCAGGCAGGGATGGGGCAGCACCTCAGGCTCAGGCTCTCCCATGCCCACTGCAGCTCCATCTGTCTCTGATTCTGGGCAGCATCTTGCTGCTCAGGGCATGAGGACTGCCCCGGAGCCCCTGAGGCCTCCCTAGGATACCTCTCCCTCCCTGGAGGACAGATGGTGCTTGTGCTGGCAGGGGGCTGGGGCCAGAGGTCACAGGAGTGTGTGGTCTGGACTGGGCCAGAGCTCGGGGGAGGCTGTGGAGAGCCCCCATCTCAGTGCCGAAGGCTCAGGGCTGGAGAGCTTCTGCCAAATCTAGGCTCTGGATTGTGTCCTAAGCTGCTTTGCGGTAATGCCCCTTACTCCCTCCCATCCCCAGCCACAAACGGGGTCCAGCCTGGCCCAGAAGGCAGAGGCAGCTGTGGCCACCAGAGAAGAGACAGATGTACCATGGCATCCCACGCACCAGGCACTAAGTGGGGGTGGGGAGCTGCCACGGGAGAGGCTGAGAACTACCACTCACCAGAGATCCAGTCCCCCCTGCACAGGCACAGCCCCCACAAACACGTCCACGCTCACACACCAGGCCCAGGCTGGCCGCCCTGCCCTGCCTCCCCCACCGCTCCCTGCCACGACTCGCGGGCGCTACCCAGGCCTGCCCATATCGAGCCCAGCCGAGCCAAACCTCACCCCGGTACATGCCGAAGTAGCCCTCGGAGCGGACGGTCTTGATGAGGCAGTCGGACCTGTGGCCAAGGGGACAGGGTGAGCCAGGGCCAGCTGGGGCCAGCCGGAGGCCAGGGTCCCTGGACTGTCTAGGGCTGATAGAAGAGGCCAAGTCCTCAGCCCAGCCCCGACCCCAGTCCTGACCCACGTGGGATCTCCCCTAGGCCCGCCTGCCTCCCGTTTCCCTTCTGTCAAACAGGGTGGGGGGCACAGGAGCAGAGCCCCCACCTCTCCTGCTGCCACATGCTGGGCCCACTCCCCGCGACCGCCCGGCACACTCACATGCTCGTGTACACGCGCTGGCCGTTCTGCTGGTTCTGCAGCCTGGTCTTGGCCAGGTCGATGGGAAACACGCAGGTGACACCGATCAGCCCGGCGATGCCGCCATTGATGAGCTTGGCTGGCAGGCTGTGTGGACAGGGGTGTCAGGACCGGCTTCCTTGACCATGGGTCAGGGTGGGGGTGAGGCACGCAGCCAGGACTGGAGTCTGACCTGATCTGCTTATCA
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Task1_train_14826
|
Gene PIDD1 (p53-induced death domain protein 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; not provided
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ATGTTGCTATAGAAACCCTGCAGCCCCAGCCGGGCCCCGGGCTGTGAGCCGTCACTGTCCCCCCTTCATAGTCAGGTGAACTGAGGCCACAGGCAAGCCAGGGAGACAGCAGGAGAGCAGAGACCACCCCACAGGAAGATACCGCTGCTTCCGAATCTGCAGGGGTAAAATCCTCCACCCAAGAAGCCGCCAGGCTCCTCCTACCCCCAAGAAAGGCAATGGGGGTGAGGCTCCGAGTCTGGCCGGCGGCTCCCCATTCAATCTCCCGCTGTCCCCGTCCTCTTGGGGCGGTGCTTTCTATCCTGCTGGCTGGAGGGTCCCGGAAGGGGACTCCAACTGCGCGATGCCTCGGCCAGAGGACAAAGGAGAAGCGGGTTGGGGGCCGCTCTCTGCGCTCGGAGGCCGGCTCAGGCCCCTGCCCTACTGCTGGGGCTCAGCCGACCGCTCCGTCCTCCGCCTGGCCACCGCGACTCCGGCCACGCACGTGTCCACAGATGTCCGGTGAACTCCCACGTGTGCGTCCCACACGGGTCGGCCTTTCTTCCTTGGGCTCGGGCCCCGGACACCCACCCTCGGGGACACGTATGTGCGGGGAGCGCGCCCGGAACCGTCGGGGCCGAGCACGGCGTCTCACGCCAGAGCAGCCGCGGATCGGAGCATCCGCTGGTCCAGGACCCCCCCTCCCGCCCGCCAGGCCACGTTGTTCGGGCAGCTGTCACCTCCCTCGGCCGCCGCAGCACCTCTCGCCCCCGCAGCCCGGCCGCGTTCGGATGGGCGCAGCAGAAGGGAGCCGCCGGGCAGACACTCACCACGCTCGCCGCCGCCGCCGCGCTCGCCTGCCCGCCCCGCGCTCGGCCAGCACCTAGGCGGGGAGGCGCGTCCGCTCGGCGCCGCGCGCGCTCCGCCCTCGGCCTCCTCCGGGCTTCGGCTCCCCCTCCTGGCCGTCGAGGCTACTGCGCCCAGCCAGGCCACAGCCACGCGCCCACCCGCCCCCTGGCCGTGGGTTCCCCCGGGCAGGGTGGCAGTTCTGCGCGCAGAGGCCGGGCCGCGCGTCCCCAAGGTCCTTTCTTGGTTTCCGGGCCTCAGGCCCCTGCAGGCACAAGGACCCGCGGGGCGCGGGCAGGTGGCAGAGCGCCGGTGGATGAGGGTGCCCTGGGGGAGGCGTGGCCTCCAGGGCAGACACAGGTGATCCGTGGAACTGCTGGGCCAGCGCAATGGAGAAGTGGAGGCACAACCCCACCCGCCGAACAGCGACTTTGTATCCAAAGCACCCCACTTGGGGCTGGGCGCAGTGGCTCACACCTGCAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGATCACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTACTAAAAATACAAAAATTAGCCAGCGTGGTGGCAAGTGCCCTAGTCCCAGCTACTTGAGAGGGTGACGCAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAAACTCCATTTAAAAAAAAAAAAAAAGTAGCCCATGTGGGTTACTTTGTAGCACAGCTCCTCCCTCCCAGGAAGATGAGGACCCACAGGAGGCCCCAGGCACAGTGGGAGAGGACAGGACCAGGATGTGGGGCACCTGTGCACACAGGCCTCCCTCCCCGCAGGGGCCAGGCCTCTACCCCACCACCCTCCGCCCTCCAACGGCTTCTCCATCCAACAAATAAATCAAGCTCTGAGGTGAAAGAAACAGTGCAGTTTTGTTGCTCACAGGGACCCGTCCCCACACACTGGAGAGACTTGAAGGTGGGGGCTCTGCCCATCCACTGGGGAATATCTGGGCCAGCCTAAAAGTCTGTGGGGCCTAGGCCTGGGCAGGCTCTGGGGGCTGTGGAGCCGAGGAGCCAGGCAGAGCGGGGTCCTTGGGGGCCAAGCCCATGCGTCGGATGCTGTCCTGGTACTTGCGGCGGCCGAGCTCCAAGACTGCGCGCACCTCTTCAGCCACGTCCTGCCGGTCACTCTGCTCCAGGGCCTGCACCAGGAGCCCCACAGCCCCTGGCTGCCCAGCCTGGCGCTCAGCCCAGGAGAAGAGCATGTGACGGATCTGCTCATCCAGATCATCCCTGCAGGCAGAGGATGGGCGACAGAGGGGTCCTGTCCACCTGCCCAGGACCCCCCACCACACTCTGCCTCGGAGTGTGGGGGAGTTCCCGGCTCCTGGGGCCAGGTGCGGCCAGACCTTTCCTTTCCAGCCTGGTGTTTGCCCTTCCCCCACCTCCCCTGGAAGAAACTTCTGTCAGAATCAGGTGGGCCCTCCAGGCAGCCAGGGCTCAGCCCTGGGGCTGGCAGCCAGCGGGCAGTGGGAGCCTCACCGGAACTCGTGCCGGATGCGCTGCACCTCCCGGTAGGACACCCCCAGGTGCAGGGCCACGGCTGGCCAGTCCAGACCCAGACGCCCAGCCACACTCAGCAGGTTGCTCTGCGTCAGAAAGCCGGTCTCGGCATCTCCCAGATTCAAGGGTGCCAAGGAGAGGCCAGCCCCCCGCCGTGGCCCCTCGGACCCTCGAAGTCTCTGTTGGAAGGAAAAAGTGCATTAAGCCCTGGGCTCCACCCCCAACTCCACCATGTCACCCTGGTCACCCCTGGGCCTCGGTCCTGCCCCGCCCCTCTGCTGTCCCTCAGTCCCACCGGCAGCTTGATGGGCAGAGTGGCCATCCACAGGGCGTCTGCGCCCTTCCTCTGCCGGGCAGCCTCAGCCTCCTCGGGCACCCGCACAGGCACCGCGCCACGGTAGAAGGACACCTGAAGGGGCATCGAATGGGGTTCGGAGTTCGGTCCTCTGCCCAAGCGGCCTGGGGGGCCTCTCCCCTCACCCACTCCCCTCGCCCACCTGGCCCCGCACAGCCTGAGCCTCCCGGTCCAGAGTGGTGGTCACGTATACCTCCTTCACATTCTTCAGGTGCGAGTAGAAGACAAAGCAGATTCTGCCCTCCACACAGTCAGGGCGGTCTAGGGGACAGGGGTGGGCTGAGCAAGGAGGGCTCGGGGAGGACGGTAAGGCTCCCCCTCCAGGGCAGGGAGCATCCACCAGCATCCCTACCAGCATCCACGTCGATGCCGCGCTCGAAGGCCGCAAAGAACTCTTCGCCCTCGAACATCTCCACCGTGTCAGAGGGCTCGGGGCCCCGGTACCGCTCCAGCAGCCGCCGAAGGGTGGCGTCCACCTGCGGGGAAGCCCGTGCAGCTCAGGACCCAAAGCTCTGCACCCCACCCCAGCCCTCTGGTCACCACCCTGCTGCCCTCCGGCCCGTGCCCCCACCTTGTTTCGGGGCAGGCACTGCAGCAGGACCTGCTCAGGGTCCCGGCGCCGCTGCAGAGCGATGAGGTTCACACGGTGCAGCCGCAGCCGCTCCCAGGCCTTCCGAGCCAGGCCTCCCACACAGTTCTTGGTGGTGTACCAGAGCCAGTACCTGGGAGAGCTGGGGGTGAGGAGGGCTGTACAGACTGGGGGAGGGGGGCTGAGAAAGCTGGGGGGCACTGACCAGGAGAAGTGTGTGACCTGGAAGCGTGCGTACAGGTGGGTGAGCTCCAGGACCACCTGAGCTGTGATGTCATCCCAGGTGGCTGCAGGAGGGGCCCAGTACAACAGGTGCAGGCGGGAGCGGTCCAGACTGAGGCCTGGGGATGGGAGGGGCAGCGAGCTGAGGCCTCCTGGCCGGAGACCCCCTCCACCCTATGGCCACAGGTCCAGGTATGCCCCATGGCTGCCTCTCACCTGTGATGCCAGAGGGCAGAGGCAGCTGCACGGTGACCGGTTGGAGGAAGCTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGGCTCACTGCAGCCTCTGGTTCTCCCAGGAGGGCCTGCAGCTCTCGGCCAGCCATGCGCACCACCTGGGGCAGACAGGCCCCCTGAGCACCTGCCTGTGGGCTGAGGCGCGGCCTGCCACCCTCAGTGCTGTCCTGGCCATACCTGCATGGAGACTCGACGAGGCTCCTCAGTGGCCCCAGGGGGGAAGATGACTTTGACCC
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ATGTTGCTATAGAAACCCTGCAGCCCCAGCCGGGCCCCGGGCTGTGAGCCGTCACTGTCCCCCCTTCATAGTCAGGTGAACTGAGGCCACAGGCAAGCCAGGGAGACAGCAGGAGAGCAGAGACCACCCCACAGGAAGATACCGCTGCTTCCGAATCTGCAGGGGTAAAATCCTCCACCCAAGAAGCCGCCAGGCTCCTCCTACCCCCAAGAAAGGCAATGGGGGTGAGGCTCCGAGTCTGGCCGGCGGCTCCCCATTCAATCTCCCGCTGTCCCCGTCCTCTTGGGGCGGTGCTTTCTATCCTGCTGGCTGGAGGGTCCCGGAAGGGGACTCCAACTGCGCGATGCCTCGGCCAGAGGACAAAGGAGAAGCGGGTTGGGGGCCGCTCTCTGCGCTCGGAGGCCGGCTCAGGCCCCTGCCCTACTGCTGGGGCTCAGCCGACCGCTCCGTCCTCCGCCTGGCCACCGCGACTCCGGCCACGCACGTGTCCACAGATGTCCGGTGAACTCCCACGTGTGCGTCCCACACGGGTCGGCCTTTCTTCCTTGGGCTCGGGCCCCGGACACCCACCCTCGGGGACACGTATGTGCGGGGAGCGCGCCCGGAACCGTCGGGGCCGAGCACGGCGTCTCACGCCAGAGCAGCCGCGGATCGGAGCATCCGCTGGTCCAGGACCCCCCCTCCCGCCCGCCAGGCCACGTTGTTCGGGCAGCTGTCACCTCCCTCGGCCGCCGCAGCACCTCTCGCCCCCGCAGCCCGGCCGCGTTCGGATGGGCGCAGCAGAAGGGAGCCGCCGGGCAGACACTCACCACGCTCGCCGCCGCCGCCGCGCTCGCCTGCCCGCCCCGCGCTCGGCCAGCACCTAGGCGGGGAGGCGCGTCCGCTCGGCGCCGCGCGCGCTCCGCCCTCGGCCTCCTCCGGGCTTCGGCTCCCCCTCCTGGCCGTCGAGGCTACTGCGCCCAGCCAGGCCACAGCCACGCGCCCACCCGCCCCCTGGCCGTGGGTTCCCCCGGGCAGGGTGGCAGTTCTGCGCGCAGAGGCCGGGCCGCGCGTCCCCAAGGTCCTTTCTTGGTTTCCGGGCCTCAGGCCCCTGCAGGCACAAGGACCCGCGGGGCGCGGGCAGGTGGCAGAGCGCCGGTGGATGAGGGTGCCCTGGGGGAGGCGTGGCCTCCAGGGCAGACACAGGTGATCCGTGGAACTGCTGGGCCAGCGCAATGGAGAAGTGGAGGCACAACCCCACCCGCCGAACAGCGACTTTGTATCCAAAGCACCCCACTTGGGGCTGGGCGCAGTGGCTCACACCTGCAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGATCACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTACTAAAAATACAAAAATTAGCCAGCGTGGTGGCAAGTGCCCTAGTCCCAGCTACTTGAGAGGGTGACGCAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAAACTCCATTTAAAAAAAAAAAAAAAGTAGCCCATGTGGGTTACTTTGTAGCACAGCTCCTCCCTCCCAGGAAGATGAGGACCCACAGGAGGCCCCAGGCACAGTGGGAGAGGACAGGACCAGGATGTGGGGCACCTGTGCACACAGGCCTCCCTCCCCGCAGGGGCCAGGCCTCTACCCCACCACCCTCCGCCCTCCAACGGCTTCTCCATCCAACAAATAAATCAAGCTCTGAGGTGAAAGAAACAGTGCAGTTTTGTTGCTCACAGGGACCCGTCCCCACACACTGGAGAGACTTGAAGGTGGGGGCTCTGCCCATCCACTGGGGAATATCTGGGCCAGCCTAAAAGTCTGTGGGGCCTAGGCCTGGGCAGGCTCTGGGGGCTGTGGAGCCGAGGAGCCAGGCAGAGCGGGGTCCTTGGGGGCCAAGCCCATGCGTCGGATGCTGTCCTGGTACTTGCGGCGGCCGAGCTCCAAGACTGCGCGCACCTCTTCAGCCACGTCCTGCCAGTCACTCTGCTCCAGGGCCTGCACCAGGAGCCCCACAGCCCCTGGCTGCCCAGCCTGGCGCTCAGCCCAGGAGAAGAGCATGTGACGGATCTGCTCATCCAGATCATCCCTGCAGGCAGAGGATGGGCGACAGAGGGGTCCTGTCCACCTGCCCAGGACCCCCCACCACACTCTGCCTCGGAGTGTGGGGGAGTTCCCGGCTCCTGGGGCCAGGTGCGGCCAGACCTTTCCTTTCCAGCCTGGTGTTTGCCCTTCCCCCACCTCCCCTGGAAGAAACTTCTGTCAGAATCAGGTGGGCCCTCCAGGCAGCCAGGGCTCAGCCCTGGGGCTGGCAGCCAGCGGGCAGTGGGAGCCTCACCGGAACTCGTGCCGGATGCGCTGCACCTCCCGGTAGGACACCCCCAGGTGCAGGGCCACGGCTGGCCAGTCCAGACCCAGACGCCCAGCCACACTCAGCAGGTTGCTCTGCGTCAGAAAGCCGGTCTCGGCATCTCCCAGATTCAAGGGTGCCAAGGAGAGGCCAGCCCCCCGCCGTGGCCCCTCGGACCCTCGAAGTCTCTGTTGGAAGGAAAAAGTGCATTAAGCCCTGGGCTCCACCCCCAACTCCACCATGTCACCCTGGTCACCCCTGGGCCTCGGTCCTGCCCCGCCCCTCTGCTGTCCCTCAGTCCCACCGGCAGCTTGATGGGCAGAGTGGCCATCCACAGGGCGTCTGCGCCCTTCCTCTGCCGGGCAGCCTCAGCCTCCTCGGGCACCCGCACAGGCACCGCGCCACGGTAGAAGGACACCTGAAGGGGCATCGAATGGGGTTCGGAGTTCGGTCCTCTGCCCAAGCGGCCTGGGGGGCCTCTCCCCTCACCCACTCCCCTCGCCCACCTGGCCCCGCACAGCCTGAGCCTCCCGGTCCAGAGTGGTGGTCACGTATACCTCCTTCACATTCTTCAGGTGCGAGTAGAAGACAAAGCAGATTCTGCCCTCCACACAGTCAGGGCGGTCTAGGGGACAGGGGTGGGCTGAGCAAGGAGGGCTCGGGGAGGACGGTAAGGCTCCCCCTCCAGGGCAGGGAGCATCCACCAGCATCCCTACCAGCATCCACGTCGATGCCGCGCTCGAAGGCCGCAAAGAACTCTTCGCCCTCGAACATCTCCACCGTGTCAGAGGGCTCGGGGCCCCGGTACCGCTCCAGCAGCCGCCGAAGGGTGGCGTCCACCTGCGGGGAAGCCCGTGCAGCTCAGGACCCAAAGCTCTGCACCCCACCCCAGCCCTCTGGTCACCACCCTGCTGCCCTCCGGCCCGTGCCCCCACCTTGTTTCGGGGCAGGCACTGCAGCAGGACCTGCTCAGGGTCCCGGCGCCGCTGCAGAGCGATGAGGTTCACACGGTGCAGCCGCAGCCGCTCCCAGGCCTTCCGAGCCAGGCCTCCCACACAGTTCTTGGTGGTGTACCAGAGCCAGTACCTGGGAGAGCTGGGGGTGAGGAGGGCTGTACAGACTGGGGGAGGGGGGCTGAGAAAGCTGGGGGGCACTGACCAGGAGAAGTGTGTGACCTGGAAGCGTGCGTACAGGTGGGTGAGCTCCAGGACCACCTGAGCTGTGATGTCATCCCAGGTGGCTGCAGGAGGGGCCCAGTACAACAGGTGCAGGCGGGAGCGGTCCAGACTGAGGCCTGGGGATGGGAGGGGCAGCGAGCTGAGGCCTCCTGGCCGGAGACCCCCTCCACCCTATGGCCACAGGTCCAGGTATGCCCCATGGCTGCCTCTCACCTGTGATGCCAGAGGGCAGAGGCAGCTGCACGGTGACCGGTTGGAGGAAGCTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGGCTCACTGCAGCCTCTGGTTCTCCCAGGAGGGCCTGCAGCTCTCGGCCAGCCATGCGCACCACCTGGGGCAGACAGGCCCCCTGAGCACCTGCCTGTGGGCTGAGGCGCGGCCTGCCACCCTCAGTGCTGTCCTGGCCATACCTGCATGGAGACTCGACGAGGCTCCTCAGTGGCCCCAGGGGGGAAGATGACTTTGACCC
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Task1_train_14827
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This genomic variant is located on Chromosome 11, within the PIDD1 (p53-induced death domain protein 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
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TGCGCTCGGAGGCCGGCTCAGGCCCCTGCCCTACTGCTGGGGCTCAGCCGACCGCTCCGTCCTCCGCCTGGCCACCGCGACTCCGGCCACGCACGTGTCCACAGATGTCCGGTGAACTCCCACGTGTGCGTCCCACACGGGTCGGCCTTTCTTCCTTGGGCTCGGGCCCCGGACACCCACCCTCGGGGACACGTATGTGCGGGGAGCGCGCCCGGAACCGTCGGGGCCGAGCACGGCGTCTCACGCCAGAGCAGCCGCGGATCGGAGCATCCGCTGGTCCAGGACCCCCCCTCCCGCCCGCCAGGCCACGTTGTTCGGGCAGCTGTCACCTCCCTCGGCCGCCGCAGCACCTCTCGCCCCCGCAGCCCGGCCGCGTTCGGATGGGCGCAGCAGAAGGGAGCCGCCGGGCAGACACTCACCACGCTCGCCGCCGCCGCCGCGCTCGCCTGCCCGCCCCGCGCTCGGCCAGCACCTAGGCGGGGAGGCGCGTCCGCTCGGCGCCGCGCGCGCTCCGCCCTCGGCCTCCTCCGGGCTTCGGCTCCCCCTCCTGGCCGTCGAGGCTACTGCGCCCAGCCAGGCCACAGCCACGCGCCCACCCGCCCCCTGGCCGTGGGTTCCCCCGGGCAGGGTGGCAGTTCTGCGCGCAGAGGCCGGGCCGCGCGTCCCCAAGGTCCTTTCTTGGTTTCCGGGCCTCAGGCCCCTGCAGGCACAAGGACCCGCGGGGCGCGGGCAGGTGGCAGAGCGCCGGTGGATGAGGGTGCCCTGGGGGAGGCGTGGCCTCCAGGGCAGACACAGGTGATCCGTGGAACTGCTGGGCCAGCGCAATGGAGAAGTGGAGGCACAACCCCACCCGCCGAACAGCGACTTTGTATCCAAAGCACCCCACTTGGGGCTGGGCGCAGTGGCTCACACCTGCAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGATCACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTACTAAAAATACAAAAATTAGCCAGCGTGGTGGCAAGTGCCCTAGTCCCAGCTACTTGAGAGGGTGACGCAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAAACTCCATTTAAAAAAAAAAAAAAAGTAGCCCATGTGGGTTACTTTGTAGCACAGCTCCTCCCTCCCAGGAAGATGAGGACCCACAGGAGGCCCCAGGCACAGTGGGAGAGGACAGGACCAGGATGTGGGGCACCTGTGCACACAGGCCTCCCTCCCCGCAGGGGCCAGGCCTCTACCCCACCACCCTCCGCCCTCCAACGGCTTCTCCATCCAACAAATAAATCAAGCTCTGAGGTGAAAGAAACAGTGCAGTTTTGTTGCTCACAGGGACCCGTCCCCACACACTGGAGAGACTTGAAGGTGGGGGCTCTGCCCATCCACTGGGGAATATCTGGGCCAGCCTAAAAGTCTGTGGGGCCTAGGCCTGGGCAGGCTCTGGGGGCTGTGGAGCCGAGGAGCCAGGCAGAGCGGGGTCCTTGGGGGCCAAGCCCATGCGTCGGATGCTGTCCTGGTACTTGCGGCGGCCGAGCTCCAAGACTGCGCGCACCTCTTCAGCCACGTCCTGCCGGTCACTCTGCTCCAGGGCCTGCACCAGGAGCCCCACAGCCCCTGGCTGCCCAGCCTGGCGCTCAGCCCAGGAGAAGAGCATGTGACGGATCTGCTCATCCAGATCATCCCTGCAGGCAGAGGATGGGCGACAGAGGGGTCCTGTCCACCTGCCCAGGACCCCCCACCACACTCTGCCTCGGAGTGTGGGGGAGTTCCCGGCTCCTGGGGCCAGGTGCGGCCAGACCTTTCCTTTCCAGCCTGGTGTTTGCCCTTCCCCCACCTCCCCTGGAAGAAACTTCTGTCAGAATCAGGTGGGCCCTCCAGGCAGCCAGGGCTCAGCCCTGGGGCTGGCAGCCAGCGGGCAGTGGGAGCCTCACCGGAACTCGTGCCGGATGCGCTGCACCTCCCGGTAGGACACCCCCAGGTGCAGGGCCACGGCTGGCCAGTCCAGACCCAGACGCCCAGCCACACTCAGCAGGTTGCTCTGCGTCAGAAAGCCGGTCTCGGCATCTCCCAGATTCAAGGGTGCCAAGGAGAGGCCAGCCCCCCGCCGTGGCCCCTCGGACCCTCGAAGTCTCTGTTGGAAGGAAAAAGTGCATTAAGCCCTGGGCTCCACCCCCAACTCCACCATGTCACCCTGGTCACCCCTGGGCCTCGGTCCTGCCCCGCCCCTCTGCTGTCCCTCAGTCCCACCGGCAGCTTGATGGGCAGAGTGGCCATCCACAGGGCGTCTGCGCCCTTCCTCTGCCGGGCAGCCTCAGCCTCCTCGGGCACCCGCACAGGCACCGCGCCACGGTAGAAGGACACCTGAAGGGGCATCGAATGGGGTTCGGAGTTCGGTCCTCTGCCCAAGCGGCCTGGGGGGCCTCTCCCCTCACCCACTCCCCTCGCCCACCTGGCCCCGCACAGCCTGAGCCTCCCGGTCCAGAGTGGTGGTCACGTATACCTCCTTCACATTCTTCAGGTGCGAGTAGAAGACAAAGCAGATTCTGCCCTCCACACAGTCAGGGCGGTCTAGGGGACAGGGGTGGGCTGAGCAAGGAGGGCTCGGGGAGGACGGTAAGGCTCCCCCTCCAGGGCAGGGAGCATCCACCAGCATCCCTACCAGCATCCACGTCGATGCCGCGCTCGAAGGCCGCAAAGAACTCTTCGCCCTCGAACATCTCCACCGTGTCAGAGGGCTCGGGGCCCCGGTACCGCTCCAGCAGCCGCCGAAGGGTGGCGTCCACCTGCGGGGAAGCCCGTGCAGCTCAGGACCCAAAGCTCTGCACCCCACCCCAGCCCTCTGGTCACCACCCTGCTGCCCTCCGGCCCGTGCCCCCACCTTGTTTCGGGGCAGGCACTGCAGCAGGACCTGCTCAGGGTCCCGGCGCCGCTGCAGAGCGATGAGGTTCACACGGTGCAGCCGCAGCCGCTCCCAGGCCTTCCGAGCCAGGCCTCCCACACAGTTCTTGGTGGTGTACCAGAGCCAGTACCTGGGAGAGCTGGGGGTGAGGAGGGCTGTACAGACTGGGGGAGGGGGGCTGAGAAAGCTGGGGGGCACTGACCAGGAGAAGTGTGTGACCTGGAAGCGTGCGTACAGGTGGGTGAGCTCCAGGACCACCTGAGCTGTGATGTCATCCCAGGTGGCTGCAGGAGGGGCCCAGTACAACAGGTGCAGGCGGGAGCGGTCCAGACTGAGGCCTGGGGATGGGAGGGGCAGCGAGCTGAGGCCTCCTGGCCGGAGACCCCCTCCACCCTATGGCCACAGGTCCAGGTATGCCCCATGGCTGCCTCTCACCTGTGATGCCAGAGGGCAGAGGCAGCTGCACGGTGACCGGTTGGAGGAAGCTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGGCTCACTGCAGCCTCTGGTTCTCCCAGGAGGGCCTGCAGCTCTCGGCCAGCCATGCGCACCACCTGGGGCAGACAGGCCCCCTGAGCACCTGCCTGTGGGCTGAGGCGCGGCCTGCCACCCTCAGTGCTGTCCTGGCCATACCTGCATGGAGACTCGACGAGGCTCCTCAGTGGCCCCAGGGGGGAAGATGACTTTGACCCCAGGATGACCCGAGGAGCACAGCAGTGTCCCCTCCGGTGGCACCAGGCAGGCATTGGACACAGGGCGGGAAACCACAAGGAACCAGGAGAAGTGGGGCACCTGGCAGTGAGCCCAGAGCCGCTGGGATGGGGGAGAGAGGAGGTCACAGGAGCCTGGGTCAGGGCACAGCCAGTCAGGGACACAGGGAGCAGGATCCAGGAGAGACGGGGCGGGGTGGAAGGTGCCAGGGACACAGGGAGCAGGATCCAGGAGGGACGGGGTGGGGTGGAAGTTGCCAGGGACACAGGGAAGCAGGATCCAGGAGGGACGGGGTGGGGTGGAAGGTGCCAGGGACATAGGGAAGCAGGATCCAGGAGGGACGGGGCAGGGTGGAAGGTGCCAGGGTGAGG
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TGCGCTCGGAGGCCGGCTCAGGCCCCTGCCCTACTGCTGGGGCTCAGCCGACCGCTCCGTCCTCCGCCTGGCCACCGCGACTCCGGCCACGCACGTGTCCACAGATGTCCGGTGAACTCCCACGTGTGCGTCCCACACGGGTCGGCCTTTCTTCCTTGGGCTCGGGCCCCGGACACCCACCCTCGGGGACACGTATGTGCGGGGAGCGCGCCCGGAACCGTCGGGGCCGAGCACGGCGTCTCACGCCAGAGCAGCCGCGGATCGGAGCATCCGCTGGTCCAGGACCCCCCCTCCCGCCCGCCAGGCCACGTTGTTCGGGCAGCTGTCACCTCCCTCGGCCGCCGCAGCACCTCTCGCCCCCGCAGCCCGGCCGCGTTCGGATGGGCGCAGCAGAAGGGAGCCGCCGGGCAGACACTCACCACGCTCGCCGCCGCCGCCGCGCTCGCCTGCCCGCCCCGCGCTCGGCCAGCACCTAGGCGGGGAGGCGCGTCCGCTCGGCGCCGCGCGCGCTCCGCCCTCGGCCTCCTCCGGGCTTCGGCTCCCCCTCCTGGCCGTCGAGGCTACTGCGCCCAGCCAGGCCACAGCCACGCGCCCACCCGCCCCCTGGCCGTGGGTTCCCCCGGGCAGGGTGGCAGTTCTGCGCGCAGAGGCCGGGCCGCGCGTCCCCAAGGTCCTTTCTTGGTTTCCGGGCCTCAGGCCCCTGCAGGCACAAGGACCCGCGGGGCGCGGGCAGGTGGCAGAGCGCCGGTGGATGAGGGTGCCCTGGGGGAGGCGTGGCCTCCAGGGCAGACACAGGTGATCCGTGGAACTGCTGGGCCAGCGCAATGGAGAAGTGGAGGCACAACCCCACCCGCCGAACAGCGACTTTGTATCCAAAGCACCCCACTTGGGGCTGGGCGCAGTGGCTCACACCTGCAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGATCACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTACTAAAAATACAAAAATTAGCCAGCGTGGTGGCAAGTGCCCTAGTCCCAGCTACTTGAGAGGGTGACGCAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAAACTCCATTTAAAAAAAAAAAAAAAGTAGCCCATGTGGGTTACTTTGTAGCACAGCTCCTCCCTCCCAGGAAGATGAGGACCCACAGGAGGCCCCAGGCACAGTGGGAGAGGACAGGACCAGGATGTGGGGCACCTGTGCACACAGGCCTCCCTCCCCGCAGGGGCCAGGCCTCTACCCCACCACCCTCCGCCCTCCAACGGCTTCTCCATCCAACAAATAAATCAAGCTCTGAGGTGAAAGAAACAGTGCAGTTTTGTTGCTCACAGGGACCCGTCCCCACACACTGGAGAGACTTGAAGGTGGGGGCTCTGCCCATCCACTGGGGAATATCTGGGCCAGCCTAAAAGTCTGTGGGGCCTAGGCCTGGGCAGGCTCTGGGGGCTGTGGAGCCGAGGAGCCAGGCAGAGCGGGGTCCTTGGGGGCCAAGCCCATGCGTCGGATGCTGTCCTGGTACTTGCGGCGGCCGAGCTCCAAGACTGCGCGCACCTCTTCAGCCACGTCCTGCCGGTCACTCTGCTCCAGGGCCTGCACCAGGAGCCCCACAGCCCCTGGCTGCCCAGCCTGGCGCTCAGCCCAGGAGAAGAGCATGTGACGGATCTGCTCATCCAGATCATCCCTGCAGGCAGAGGATGGGCGACAGAGGGGTCCTGTCCACCTGCCCAGGACCCCCCACCACACTCTGCCTCGGAGTGTGGGGGAGTTCCCGGCTCCTGGGGCCAGGTGCGGCCAGACCTTTCCTTTCCAGCCTGGTGTTTGCCCTTCCCCCACCTCCCCTGGAAGAAACTTCTGTCAGAATCAGGTGGGCCCTCCAGGCAGCCAGGGCTCAGCCCTGGGGCTGGCAGCCAGCGGGCAGTGGGAGCCTCACCGGAACTCGTGCCGGATGCGCTGCACCTCCCAGTAGGACACCCCCAGGTGCAGGGCCACGGCTGGCCAGTCCAGACCCAGACGCCCAGCCACACTCAGCAGGTTGCTCTGCGTCAGAAAGCCGGTCTCGGCATCTCCCAGATTCAAGGGTGCCAAGGAGAGGCCAGCCCCCCGCCGTGGCCCCTCGGACCCTCGAAGTCTCTGTTGGAAGGAAAAAGTGCATTAAGCCCTGGGCTCCACCCCCAACTCCACCATGTCACCCTGGTCACCCCTGGGCCTCGGTCCTGCCCCGCCCCTCTGCTGTCCCTCAGTCCCACCGGCAGCTTGATGGGCAGAGTGGCCATCCACAGGGCGTCTGCGCCCTTCCTCTGCCGGGCAGCCTCAGCCTCCTCGGGCACCCGCACAGGCACCGCGCCACGGTAGAAGGACACCTGAAGGGGCATCGAATGGGGTTCGGAGTTCGGTCCTCTGCCCAAGCGGCCTGGGGGGCCTCTCCCCTCACCCACTCCCCTCGCCCACCTGGCCCCGCACAGCCTGAGCCTCCCGGTCCAGAGTGGTGGTCACGTATACCTCCTTCACATTCTTCAGGTGCGAGTAGAAGACAAAGCAGATTCTGCCCTCCACACAGTCAGGGCGGTCTAGGGGACAGGGGTGGGCTGAGCAAGGAGGGCTCGGGGAGGACGGTAAGGCTCCCCCTCCAGGGCAGGGAGCATCCACCAGCATCCCTACCAGCATCCACGTCGATGCCGCGCTCGAAGGCCGCAAAGAACTCTTCGCCCTCGAACATCTCCACCGTGTCAGAGGGCTCGGGGCCCCGGTACCGCTCCAGCAGCCGCCGAAGGGTGGCGTCCACCTGCGGGGAAGCCCGTGCAGCTCAGGACCCAAAGCTCTGCACCCCACCCCAGCCCTCTGGTCACCACCCTGCTGCCCTCCGGCCCGTGCCCCCACCTTGTTTCGGGGCAGGCACTGCAGCAGGACCTGCTCAGGGTCCCGGCGCCGCTGCAGAGCGATGAGGTTCACACGGTGCAGCCGCAGCCGCTCCCAGGCCTTCCGAGCCAGGCCTCCCACACAGTTCTTGGTGGTGTACCAGAGCCAGTACCTGGGAGAGCTGGGGGTGAGGAGGGCTGTACAGACTGGGGGAGGGGGGCTGAGAAAGCTGGGGGGCACTGACCAGGAGAAGTGTGTGACCTGGAAGCGTGCGTACAGGTGGGTGAGCTCCAGGACCACCTGAGCTGTGATGTCATCCCAGGTGGCTGCAGGAGGGGCCCAGTACAACAGGTGCAGGCGGGAGCGGTCCAGACTGAGGCCTGGGGATGGGAGGGGCAGCGAGCTGAGGCCTCCTGGCCGGAGACCCCCTCCACCCTATGGCCACAGGTCCAGGTATGCCCCATGGCTGCCTCTCACCTGTGATGCCAGAGGGCAGAGGCAGCTGCACGGTGACCGGTTGGAGGAAGCTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGGCTCACTGCAGCCTCTGGTTCTCCCAGGAGGGCCTGCAGCTCTCGGCCAGCCATGCGCACCACCTGGGGCAGACAGGCCCCCTGAGCACCTGCCTGTGGGCTGAGGCGCGGCCTGCCACCCTCAGTGCTGTCCTGGCCATACCTGCATGGAGACTCGACGAGGCTCCTCAGTGGCCCCAGGGGGGAAGATGACTTTGACCCCAGGATGACCCGAGGAGCACAGCAGTGTCCCCTCCGGTGGCACCAGGCAGGCATTGGACACAGGGCGGGAAACCACAAGGAACCAGGAGAAGTGGGGCACCTGGCAGTGAGCCCAGAGCCGCTGGGATGGGGGAGAGAGGAGGTCACAGGAGCCTGGGTCAGGGCACAGCCAGTCAGGGACACAGGGAGCAGGATCCAGGAGAGACGGGGCGGGGTGGAAGGTGCCAGGGACACAGGGAGCAGGATCCAGGAGGGACGGGGTGGGGTGGAAGTTGCCAGGGACACAGGGAAGCAGGATCCAGGAGGGACGGGGTGGGGTGGAAGGTGCCAGGGACATAGGGAAGCAGGATCCAGGAGGGACGGGGCAGGGTGGAAGGTGCCAGGGTGAGG
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Task1_train_14828
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A variant was discovered on Chromosome 11, affecting PNPLA2 (patatin like domain 2, triacylglycerol lipase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Neutral lipid storage myopathy
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CACGGTGCCCTGTGGCCTGGCTCCCCGCTGCGGCCCACCGCGTTTGCACACTTCATGGGTGAGGGTGCTTCTGGGCTCTGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCAATAACTAGAGCTATTATTGGGAACAGCCCCCTCCAGCCCCCTCCCTCTCATGGAGGCCTTCAGACAAGCGCCTCAGTCGGCCCCCTGGCTTCAAGATACATCAAGGTCCCTGCTACCCGAGCCAAGGACACCTCTCCCACAGTGCTTCCCCACCCTGCTCCCAACAAGACTCCTTCTCACGGGTGGTCTTGCACAGCTGGAGCCCATAGTGCAGCAGGTGCTGGCTGAAGAGCCCCTGGCTCCACACTGCCCCACTCCTGACCAGGGTGATGCACTGGAGGAGGGCTTGGACCTCAGCTCCTCCCTCAGTGCTCCCGACCACTTCCAGGGACTATCCCCAAGCTGGCCAGCACTCCTGCGCCCCAAGAGGAGTGTTTGGGGTGCTTCCTCTTGGCTGCAGTGGGACACAGGTGTGCCTTCCTAGGAACTGGGCCCTGACTACTTCCAGCCCAACACTCCCGGGCCTGTGAACTGTGACCTGTGTGCCGGGATGGGTTTTGTGGGTCTGCCCCATCCCCGCACTGCTGGATCTGGCCAAGTGGGTGAAGGCTAAGGCCGGTCAGAGTTGAGTTTCTGCCTTGTCCCCTCTCCTGGGCTAGATGCCACACCAGGCCCAGTGACTCATAGGGCAGGCAGTTGGGAAATACCAGGCAGAGGGCAGGTCCTGGTCTCAGCTGGCCAGCCTCTGCTGTCTGCCATCCCAGGGGAGGTGGCCAAAGTCCCAACTGTGAGCCAGGCCCCACATTCACTGGGCCTCCTCCAGGGTCTGTATGCCATGGAACCCTGGACATGGGGCTATGAAGGAAGGTGGGTGTTGCTAAGCCCAGGAGCATGGGCCCCTAACCTTGGCCCTGTGCCCCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAGGGGGTGGTGAGTATTCCTAGCCCTGGACACCTTCTATGGGGTGGGCCGTGGGATGAGGGACAGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCGTGGAAGCGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTACCGCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTGGTGAGCTCTGCTCCGAGGACTGTGGCCTTCCCAGCCACTCCTCACTGGGCACCAAGGGAGAACACTGATCCTTTGACTTCTGAGTGCCCAGGGTAGGGTGGTGGGAGCCTCTTCTGAGGGCTGGGGAAAGCGCACAACCTTTCTAGGGGCAGATGGCCCATCCAACCTCTCTGTCTAGCTGCTCTGTCCAGGCTCCCTGTCCAGTCTCTCTCTCTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTGAGATGAAGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCCTCTCACTGCAAGCTCCACCTCCCGGGTTCCTGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTCATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTAAGCCACTGCGCCCGGCTTTCTGTCCAACCTCCCTGTACAGCTTTGATCTTGTTCTGGATCTAGGATAGGTTTTGGGGTTGGGAGCTGCGGGTAGTGAAGGGAGGTGGCTGTTGGGGGTGCCAGGGATTCCAGGGGCAGAACGGGCATCCCTGGCTCCCTCCGCTCCATTTAACCCTCCTCACTGCAGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGCGCTTTCTGCAGCGGAACGGTGCGCGGACCCGGGCGGGAGAGGGCGGGGTGGGCTCGGCTCTGCTACCCCCTGCGGGCCGCGGCCGCGCTGATGAACTGAGAATCCCTTCTCTCCCCAACCCCAGGCCTCCTGAACCGGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGGGTGCGCACCTGGGGGACGGGAGGGGAGGAGGGGAGGCAGGAGGGAAAGAGAGAGAGGAGAGGACGGTGAGCAGGGGAGGGAAGCCGAGCGGGTCCTGGGCCCCGCTGCCTCCACTGGCCGCCGACCTCCCGCCCACCCGCAGCCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTGCCGCTGGAGAGCGCTCTGTCCTTCACCATCCGGTGTGAGGGCTGGGGGGTCGGGAGAGGGGCCCAGGGGACGGACTTTGGGATCATCCGCGAGTGATGGTTACCAGGGAAGGTGGGGTGGGGTGAGCAGTGCCAAGTCAGGGCACAGACAGGGCCCGGCGGGTGGGCATGTGGGTCTGGCCAAGTCCCTGAACGCGCCGCTCGCCCTGTCCCCAGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGTGAGCCGCCGACCGCGCGTCCACCCGGGGCCCGCGGTGCTAGCGCCGGGAGCTGAAGCCCTCCCTGCCGCATCCCTGCCCCGCAGGCTGCCGGAGCAGGTGGAG
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CACGGTGCCCTGTGGCCTGGCTCCCCGCTGCGGCCCACCGCGTTTGCACACTTCATGGGTGAGGGTGCTTCTGGGCTCTGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCAATAACTAGAGCTATTATTGGGAACAGCCCCCTCCAGCCCCCTCCCTCTCATGGAGGCCTTCAGACAAGCGCCTCAGTCGGCCCCCTGGCTTCAAGATACATCAAGGTCCCTGCTACCCGAGCCAAGGACACCTCTCCCACAGTGCTTCCCCACCCTGCTCCCAACAAGACTCCTTCTCACGGGTGGTCTTGCACAGCTGGAGCCCATAGTGCAGCAGGTGCTGGCTGAAGAGCCCCTGGCTCCACACTGCCCCACTCCTGACCAGGGTGATGCACTGGAGGAGGGCTTGGACCTCAGCTCCTCCCTCAGTGCTCCCGACCACTTCCAGGGACTATCCCCAAGCTGGCCAGCACTCCTGCGCCCCAAGAGGAGTGTTTGGGGTGCTTCCTCTTGGCTGCAGTGGGACACAGGTGTGCCTTCCTAGGAACTGGGCCCTGACTACTTCCAGCCCAACACTCCCGGGCCTGTGAACTGTGACCTGTGTGCCGGGATGGGTTTTGTGGGTCTGCCCCATCCCCGCACTGCTGGATCTGGCCAAGTGGGTGAAGGCTAAGGCCGGTCAGAGTTGAGTTTCTGCCTTGTCCCCTCTCCTGGGCTAGATGCCACACCAGGCCCAGTGACTCATAGGGCAGGCAGTTGGGAAATACCAGGCAGAGGGCAGGTCCTGGTCTCAGCTGGCCAGCCTCTGCTGTCTGCCATCCCAGGGGAGGTGGCCAAAGTCCCAACTGTGAGCCAGGCCCCACATTCACTGGGCCTCCTCCAGGGTCTGTATGCCATGGAACCCTGGACATGGGGCTATGAAGGAAGGTGGGTGTTGCTAAGCCCAGGAGCATGGGCCCCTAACCTTGGCCCTGTGCCCCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAGGGGGTGGTGAGTATTCCTAGCCCTGGACACCTTCTATGGGGTGGGCCGTGGGATGAGGGACAGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCGTGGAAGCGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCTGCAGGACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTACCGCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTGGTGAGCTCTGCTCCGAGGACTGTGGCCTTCCCAGCCACTCCTCACTGGGCACCAAGGGAGAACACTGATCCTTTGACTTCTGAGTGCCCAGGGTAGGGTGGTGGGAGCCTCTTCTGAGGGCTGGGGAAAGCGCACAACCTTTCTAGGGGCAGATGGCCCATCCAACCTCTCTGTCTAGCTGCTCTGTCCAGGCTCCCTGTCCAGTCTCTCTCTCTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTGAGATGAAGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCCTCTCACTGCAAGCTCCACCTCCCGGGTTCCTGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTCATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTAAGCCACTGCGCCCGGCTTTCTGTCCAACCTCCCTGTACAGCTTTGATCTTGTTCTGGATCTAGGATAGGTTTTGGGGTTGGGAGCTGCGGGTAGTGAAGGGAGGTGGCTGTTGGGGGTGCCAGGGATTCCAGGGGCAGAACGGGCATCCCTGGCTCCCTCCGCTCCATTTAACCCTCCTCACTGCAGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGCGCTTTCTGCAGCGGAACGGTGCGCGGACCCGGGCGGGAGAGGGCGGGGTGGGCTCGGCTCTGCTACCCCCTGCGGGCCGCGGCCGCGCTGATGAACTGAGAATCCCTTCTCTCCCCAACCCCAGGCCTCCTGAACCGGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGGGTGCGCACCTGGGGGACGGGAGGGGAGGAGGGGAGGCAGGAGGGAAAGAGAGAGAGGAGAGGACGGTGAGCAGGGGAGGGAAGCCGAGCGGGTCCTGGGCCCCGCTGCCTCCACTGGCCGCCGACCTCCCGCCCACCCGCAGCCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTGCCGCTGGAGAGCGCTCTGTCCTTCACCATCCGGTGTGAGGGCTGGGGGGTCGGGAGAGGGGCCCAGGGGACGGACTTTGGGATCATCCGCGAGTGATGGTTACCAGGGAAGGTGGGGTGGGGTGAGCAGTGCCAAGTCAGGGCACAGACAGGGCCCGGCGGGTGGGCATGTGGGTCTGGCCAAGTCCCTGAACGCGCCGCTCGCCCTGTCCCCAGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGTGAGCCGCCGACCGCGCGTCCACCCGGGGCCCGCGGTGCTAGCGCCGGGAGCTGAAGCCCTCCCTGCCGCATCCCTGCCCCGCAGGCTGCCGGAGCAGGTGGAG
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Task1_train_14829
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Located on Chromosome 11, this mutation impacts PNPLA2 (patatin like domain 2, triacylglycerol lipase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Neutral lipid storage myopathy
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TGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCAATAACTAGAGCTATTATTGGGAACAGCCCCCTCCAGCCCCCTCCCTCTCATGGAGGCCTTCAGACAAGCGCCTCAGTCGGCCCCCTGGCTTCAAGATACATCAAGGTCCCTGCTACCCGAGCCAAGGACACCTCTCCCACAGTGCTTCCCCACCCTGCTCCCAACAAGACTCCTTCTCACGGGTGGTCTTGCACAGCTGGAGCCCATAGTGCAGCAGGTGCTGGCTGAAGAGCCCCTGGCTCCACACTGCCCCACTCCTGACCAGGGTGATGCACTGGAGGAGGGCTTGGACCTCAGCTCCTCCCTCAGTGCTCCCGACCACTTCCAGGGACTATCCCCAAGCTGGCCAGCACTCCTGCGCCCCAAGAGGAGTGTTTGGGGTGCTTCCTCTTGGCTGCAGTGGGACACAGGTGTGCCTTCCTAGGAACTGGGCCCTGACTACTTCCAGCCCAACACTCCCGGGCCTGTGAACTGTGACCTGTGTGCCGGGATGGGTTTTGTGGGTCTGCCCCATCCCCGCACTGCTGGATCTGGCCAAGTGGGTGAAGGCTAAGGCCGGTCAGAGTTGAGTTTCTGCCTTGTCCCCTCTCCTGGGCTAGATGCCACACCAGGCCCAGTGACTCATAGGGCAGGCAGTTGGGAAATACCAGGCAGAGGGCAGGTCCTGGTCTCAGCTGGCCAGCCTCTGCTGTCTGCCATCCCAGGGGAGGTGGCCAAAGTCCCAACTGTGAGCCAGGCCCCACATTCACTGGGCCTCCTCCAGGGTCTGTATGCCATGGAACCCTGGACATGGGGCTATGAAGGAAGGTGGGTGTTGCTAAGCCCAGGAGCATGGGCCCCTAACCTTGGCCCTGTGCCCCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAGGGGGTGGTGAGTATTCCTAGCCCTGGACACCTTCTATGGGGTGGGCCGTGGGATGAGGGACAGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCGTGGAAGCGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTACCGCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTGGTGAGCTCTGCTCCGAGGACTGTGGCCTTCCCAGCCACTCCTCACTGGGCACCAAGGGAGAACACTGATCCTTTGACTTCTGAGTGCCCAGGGTAGGGTGGTGGGAGCCTCTTCTGAGGGCTGGGGAAAGCGCACAACCTTTCTAGGGGCAGATGGCCCATCCAACCTCTCTGTCTAGCTGCTCTGTCCAGGCTCCCTGTCCAGTCTCTCTCTCTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTGAGATGAAGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCCTCTCACTGCAAGCTCCACCTCCCGGGTTCCTGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTCATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTAAGCCACTGCGCCCGGCTTTCTGTCCAACCTCCCTGTACAGCTTTGATCTTGTTCTGGATCTAGGATAGGTTTTGGGGTTGGGAGCTGCGGGTAGTGAAGGGAGGTGGCTGTTGGGGGTGCCAGGGATTCCAGGGGCAGAACGGGCATCCCTGGCTCCCTCCGCTCCATTTAACCCTCCTCACTGCAGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGCGCTTTCTGCAGCGGAACGGTGCGCGGACCCGGGCGGGAGAGGGCGGGGTGGGCTCGGCTCTGCTACCCCCTGCGGGCCGCGGCCGCGCTGATGAACTGAGAATCCCTTCTCTCCCCAACCCCAGGCCTCCTGAACCGGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGGGTGCGCACCTGGGGGACGGGAGGGGAGGAGGGGAGGCAGGAGGGAAAGAGAGAGAGGAGAGGACGGTGAGCAGGGGAGGGAAGCCGAGCGGGTCCTGGGCCCCGCTGCCTCCACTGGCCGCCGACCTCCCGCCCACCCGCAGCCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTGCCGCTGGAGAGCGCTCTGTCCTTCACCATCCGGTGTGAGGGCTGGGGGGTCGGGAGAGGGGCCCAGGGGACGGACTTTGGGATCATCCGCGAGTGATGGTTACCAGGGAAGGTGGGGTGGGGTGAGCAGTGCCAAGTCAGGGCACAGACAGGGCCCGGCGGGTGGGCATGTGGGTCTGGCCAAGTCCCTGAACGCGCCGCTCGCCCTGTCCCCAGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGTGAGCCGCCGACCGCGCGTCCACCCGGGGCCCGCGGTGCTAGCGCCGGGAGCTGAAGCCCTCCCTGCCGCATCCCTGCCCCGCAGGCTGCCGGAGCAGGTGGAGCTGCGCCGCGTCCAGTCGCTGCCGTCCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCCGGCTGGATGCGC
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TGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCAATAACTAGAGCTATTATTGGGAACAGCCCCCTCCAGCCCCCTCCCTCTCATGGAGGCCTTCAGACAAGCGCCTCAGTCGGCCCCCTGGCTTCAAGATACATCAAGGTCCCTGCTACCCGAGCCAAGGACACCTCTCCCACAGTGCTTCCCCACCCTGCTCCCAACAAGACTCCTTCTCACGGGTGGTCTTGCACAGCTGGAGCCCATAGTGCAGCAGGTGCTGGCTGAAGAGCCCCTGGCTCCACACTGCCCCACTCCTGACCAGGGTGATGCACTGGAGGAGGGCTTGGACCTCAGCTCCTCCCTCAGTGCTCCCGACCACTTCCAGGGACTATCCCCAAGCTGGCCAGCACTCCTGCGCCCCAAGAGGAGTGTTTGGGGTGCTTCCTCTTGGCTGCAGTGGGACACAGGTGTGCCTTCCTAGGAACTGGGCCCTGACTACTTCCAGCCCAACACTCCCGGGCCTGTGAACTGTGACCTGTGTGCCGGGATGGGTTTTGTGGGTCTGCCCCATCCCCGCACTGCTGGATCTGGCCAAGTGGGTGAAGGCTAAGGCCGGTCAGAGTTGAGTTTCTGCCTTGTCCCCTCTCCTGGGCTAGATGCCACACCAGGCCCAGTGACTCATAGGGCAGGCAGTTGGGAAATACCAGGCAGAGGGCAGGTCCTGGTCTCAGCTGGCCAGCCTCTGCTGTCTGCCATCCCAGGGGAGGTGGCCAAAGTCCCAACTGTGAGCCAGGCCCCACATTCACTGGGCCTCCTCCAGGGTCTGTATGCCATGGAACCCTGGACATGGGGCTATGAAGGAAGGTGGGTGTTGCTAAGCCCAGGAGCATGGGCCCCTAACCTTGGCCCTGTGCCCCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAGGGGGTGGTGAGTATTCCTAGCCCTGGACACCTTCTATGGGGTGGGCCGTGGGATGAGGGACAGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCGTGGAAGCGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTACCCCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTGGTGAGCTCTGCTCCGAGGACTGTGGCCTTCCCAGCCACTCCTCACTGGGCACCAAGGGAGAACACTGATCCTTTGACTTCTGAGTGCCCAGGGTAGGGTGGTGGGAGCCTCTTCTGAGGGCTGGGGAAAGCGCACAACCTTTCTAGGGGCAGATGGCCCATCCAACCTCTCTGTCTAGCTGCTCTGTCCAGGCTCCCTGTCCAGTCTCTCTCTCTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTGAGATGAAGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCCTCTCACTGCAAGCTCCACCTCCCGGGTTCCTGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTCATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTAAGCCACTGCGCCCGGCTTTCTGTCCAACCTCCCTGTACAGCTTTGATCTTGTTCTGGATCTAGGATAGGTTTTGGGGTTGGGAGCTGCGGGTAGTGAAGGGAGGTGGCTGTTGGGGGTGCCAGGGATTCCAGGGGCAGAACGGGCATCCCTGGCTCCCTCCGCTCCATTTAACCCTCCTCACTGCAGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGCGCTTTCTGCAGCGGAACGGTGCGCGGACCCGGGCGGGAGAGGGCGGGGTGGGCTCGGCTCTGCTACCCCCTGCGGGCCGCGGCCGCGCTGATGAACTGAGAATCCCTTCTCTCCCCAACCCCAGGCCTCCTGAACCGGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGGGTGCGCACCTGGGGGACGGGAGGGGAGGAGGGGAGGCAGGAGGGAAAGAGAGAGAGGAGAGGACGGTGAGCAGGGGAGGGAAGCCGAGCGGGTCCTGGGCCCCGCTGCCTCCACTGGCCGCCGACCTCCCGCCCACCCGCAGCCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTGCCGCTGGAGAGCGCTCTGTCCTTCACCATCCGGTGTGAGGGCTGGGGGGTCGGGAGAGGGGCCCAGGGGACGGACTTTGGGATCATCCGCGAGTGATGGTTACCAGGGAAGGTGGGGTGGGGTGAGCAGTGCCAAGTCAGGGCACAGACAGGGCCCGGCGGGTGGGCATGTGGGTCTGGCCAAGTCCCTGAACGCGCCGCTCGCCCTGTCCCCAGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGTGAGCCGCCGACCGCGCGTCCACCCGGGGCCCGCGGTGCTAGCGCCGGGAGCTGAAGCCCTCCCTGCCGCATCCCTGCCCCGCAGGCTGCCGGAGCAGGTGGAGCTGCGCCGCGTCCAGTCGCTGCCGTCCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCCGGCTGGATGCGC
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Task1_train_14830
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Gene PNPLA2 (patatin like domain 2, triacylglycerol lipase) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Neutral lipid storage myopathy
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TCTGTATGCCATGGAACCCTGGACATGGGGCTATGAAGGAAGGTGGGTGTTGCTAAGCCCAGGAGCATGGGCCCCTAACCTTGGCCCTGTGCCCCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAGGGGGTGGTGAGTATTCCTAGCCCTGGACACCTTCTATGGGGTGGGCCGTGGGATGAGGGACAGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCGTGGAAGCGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTACCGCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTGGTGAGCTCTGCTCCGAGGACTGTGGCCTTCCCAGCCACTCCTCACTGGGCACCAAGGGAGAACACTGATCCTTTGACTTCTGAGTGCCCAGGGTAGGGTGGTGGGAGCCTCTTCTGAGGGCTGGGGAAAGCGCACAACCTTTCTAGGGGCAGATGGCCCATCCAACCTCTCTGTCTAGCTGCTCTGTCCAGGCTCCCTGTCCAGTCTCTCTCTCTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTGAGATGAAGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCCTCTCACTGCAAGCTCCACCTCCCGGGTTCCTGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTCATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTAAGCCACTGCGCCCGGCTTTCTGTCCAACCTCCCTGTACAGCTTTGATCTTGTTCTGGATCTAGGATAGGTTTTGGGGTTGGGAGCTGCGGGTAGTGAAGGGAGGTGGCTGTTGGGGGTGCCAGGGATTCCAGGGGCAGAACGGGCATCCCTGGCTCCCTCCGCTCCATTTAACCCTCCTCACTGCAGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGCGCTTTCTGCAGCGGAACGGTGCGCGGACCCGGGCGGGAGAGGGCGGGGTGGGCTCGGCTCTGCTACCCCCTGCGGGCCGCGGCCGCGCTGATGAACTGAGAATCCCTTCTCTCCCCAACCCCAGGCCTCCTGAACCGGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGGGTGCGCACCTGGGGGACGGGAGGGGAGGAGGGGAGGCAGGAGGGAAAGAGAGAGAGGAGAGGACGGTGAGCAGGGGAGGGAAGCCGAGCGGGTCCTGGGCCCCGCTGCCTCCACTGGCCGCCGACCTCCCGCCCACCCGCAGCCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTGCCGCTGGAGAGCGCTCTGTCCTTCACCATCCGGTGTGAGGGCTGGGGGGTCGGGAGAGGGGCCCAGGGGACGGACTTTGGGATCATCCGCGAGTGATGGTTACCAGGGAAGGTGGGGTGGGGTGAGCAGTGCCAAGTCAGGGCACAGACAGGGCCCGGCGGGTGGGCATGTGGGTCTGGCCAAGTCCCTGAACGCGCCGCTCGCCCTGTCCCCAGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGTGAGCCGCCGACCGCGCGTCCACCCGGGGCCCGCGGTGCTAGCGCCGGGAGCTGAAGCCCTCCCTGCCGCATCCCTGCCCCGCAGGCTGCCGGAGCAGGTGGAGCTGCGCCGCGTCCAGTCGCTGCCGTCCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCCGGCTGGATGCGCAACAACCTCTCGCTGGGGGACGCGCTGGCCAAGTGGGAGGAGTGCCAGCGCCAGCTGCTGCTCGGCCTCTTCTGCACCAACGTGGCCTTCCCGCCCGAAGCTCTGCGCATGCGCGCACCCGCCGACCCGGCTCCCGCCCCCGCGGACCCAGCATCCCCGCAGCACCAGCTGGCCGGGCCTGCCCCCTTGCTGAGCACCCCTGCTCCCGAGGCCCGGCCCGTGATCGGGGCCCTGGGGCTGTGAGACCCCGACCCTCTCGAGGAACCCTGCCTGAGACGCCTCCATTACCACTGCGCAGTGAGATGAGGGGACTCACAGTTGCCAAGAGGGGTCTTTGCCGTGGGCCCCCTCGCCAGCCACTCACCAGCTGCATGCACTGAGAGGGGAGGTTTCCACACCCCTCCCCTGGGCCGCTGAGGCCCCGCGCACCTGTGCCTTAATCTTCCCTCCCCTGTGCTGCCCGAGCACCTCCCCCGCCCCTTTACTCCTGAGAACTTTGCAGCTGCCCTTCCCTCCCCGTTTTTCATGGCCTGCTGAAATATGTGTGTGAAGAATTATTTATTTTCGCCAAAGCACATGTAATAAATGCTGCAGCCCAGCCTCTGCCCACTTTGTGTGTATGTGACCGCCTGCTTACTTGCAGTGAGAGCCTGGTGGCCAGGGTCTGGCCCTACCTTGGCTGACCAGCCTCTCCACAGCTGCAGGCCAGGTCTCCCAGCGTCGCACTCCTGGGCCTGGCATTTGGAACCTGCCAGGCTGGCCTGGGAACACCCCCCTACAGGCACATATGAACGTACTGCATTCCTGCCGACCCCCCTGTCTAGGATGCATCCACACCCCCCCCAATTTTGCCCAGCAGCCTCCTGGCTGACCCTTGGCCACAGCCTTCTGAGGGCCAATGGAAATATTTGGGACCAAGATTCTTGGTAAATAAAAACGAAAATGTTTGCAAAAGGTGTCGCCTGCCCCTCCCCTCACACGGTGACACAGTGGGGTGTGTGACTGTT
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TCTGTATGCCATGGAACCCTGGACATGGGGCTATGAAGGAAGGTGGGTGTTGCTAAGCCCAGGAGCATGGGCCCCTAACCTTGGCCCTGTGCCCCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTCATCCCTCCCTCCCTCCAGGGGGTGGTGAGTATTCCTAGCCCTGGACACCTTCTATGGGGTGGGCCGTGGGATGAGGGACAGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCGTGGAAGCGCTACGTGGATGGTGGCATTTCAGACAACCTGCCACTCTATGAGCTTAAGAACACCATCACAGTGTCCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACCAACATCCACGAGCTGCGGGTCACCAACACCAGCATCCAGTTCAACCTGCGCAACCTCTACCGCCTCTCCAAGGCCCTCTTCCCGCCGGAGCCCCTGGTGAGCTCTGCTCCGAGGACTGTGGCCTTCCCAGCCACTCCTCACTGGGCACCAAGGGAGAACACTGATCCTTTGACTTCTGAGTGCCCAGGGTAGGGTGGTGGGAGCCTCTTCTGAGGGCTGGGGAAAGCGCACAACCTTTCTAGGGGCAGATGGCCCATCCAACCTCTCTGTCTAGCTGCTCTGTCCAGGCTCCCTGTCCAGTCTCTCTCTCTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTGAGATGAAGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCCTCTCACTGCAAGCTCCACCTCCCGGGTTCCTGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTCATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTAAGCCACTGCGCCCGGCTTTCTGTCCAACCTCCCTGTACAGCTTTGATCTTGTTCTGGATCTAGGATAGGTTTTGGGGTTGGGAGCTGCGGGTAGTGAAGGGAGGTGGCTGTTGGGGGTGCCAGGGATTCCAGGGGCAGAACGGGCATCCCTGGCTCCCTCCGCTCCATTTAACCCTCCTCACTGCAGGTGCTGCGAGAGATGTGCAAGCAGGGATACCGGGATGGCCTGCGCTTTCTGCCGCGGAACGGTGCGCGGACCCGGGCGGGAGAGGGCGGGGTGGGCTCGGCTCTGCTACCCCCTGCGGGCCGCGGCCGCGCTGATGAACTGAGAATCCCTTCTCTCCCCAACCCCAGGCCTCCTGAACCGGCCCAACCCCTTGCTGGCGTTGCCCCCCGCCCGCCCCCACGGCCCAGAGGACAAGGACCAGGCAGTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGCACCTGCCCGCCCGGCTCAATGAGGGTGCGCACCTGGGGGACGGGAGGGGAGGAGGGGAGGCAGGAGGGAAAGAGAGAGAGGAGAGGACGGTGAGCAGGGGAGGGAAGCCGAGCGGGTCCTGGGCCCCGCTGCCTCCACTGGCCGCCGACCTCCCGCCCACCCGCAGCCCTGCTGGAGGCCTGCGTGGAGCCCACGGACCTGCTGACCACCCTCTCCAACATGCTGCCTGTGCGTCTGGCCACGGCCATGATGGTGCCCTACACGCTGCCGCTGGAGAGCGCTCTGTCCTTCACCATCCGGTGTGAGGGCTGGGGGGTCGGGAGAGGGGCCCAGGGGACGGACTTTGGGATCATCCGCGAGTGATGGTTACCAGGGAAGGTGGGGTGGGGTGAGCAGTGCCAAGTCAGGGCACAGACAGGGCCCGGCGGGTGGGCATGTGGGTCTGGCCAAGTCCCTGAACGCGCCGCTCGCCCTGTCCCCAGCTTGCTGGAGTGGCTGCCCGACGTTCCCGAGGACATCCGGTGGATGAAGGAGCAGACGGGCAGCATCTGCCAGTACCTGGTGATGCGCGCCAAGAGGAAGCTGGGCAGGCACCTGCCCTCCAGGTGAGCCGCCGACCGCGCGTCCACCCGGGGCCCGCGGTGCTAGCGCCGGGAGCTGAAGCCCTCCCTGCCGCATCCCTGCCCCGCAGGCTGCCGGAGCAGGTGGAGCTGCGCCGCGTCCAGTCGCTGCCGTCCGTGCCGCTGTCCTGCGCCGCCTACAGAGAGGCACTGCCCGGCTGGATGCGCAACAACCTCTCGCTGGGGGACGCGCTGGCCAAGTGGGAGGAGTGCCAGCGCCAGCTGCTGCTCGGCCTCTTCTGCACCAACGTGGCCTTCCCGCCCGAAGCTCTGCGCATGCGCGCACCCGCCGACCCGGCTCCCGCCCCCGCGGACCCAGCATCCCCGCAGCACCAGCTGGCCGGGCCTGCCCCCTTGCTGAGCACCCCTGCTCCCGAGGCCCGGCCCGTGATCGGGGCCCTGGGGCTGTGAGACCCCGACCCTCTCGAGGAACCCTGCCTGAGACGCCTCCATTACCACTGCGCAGTGAGATGAGGGGACTCACAGTTGCCAAGAGGGGTCTTTGCCGTGGGCCCCCTCGCCAGCCACTCACCAGCTGCATGCACTGAGAGGGGAGGTTTCCACACCCCTCCCCTGGGCCGCTGAGGCCCCGCGCACCTGTGCCTTAATCTTCCCTCCCCTGTGCTGCCCGAGCACCTCCCCCGCCCCTTTACTCCTGAGAACTTTGCAGCTGCCCTTCCCTCCCCGTTTTTCATGGCCTGCTGAAATATGTGTGTGAAGAATTATTTATTTTCGCCAAAGCACATGTAATAAATGCTGCAGCCCAGCCTCTGCCCACTTTGTGTGTATGTGACCGCCTGCTTACTTGCAGTGAGAGCCTGGTGGCCAGGGTCTGGCCCTACCTTGGCTGACCAGCCTCTCCACAGCTGCAGGCCAGGTCTCCCAGCGTCGCACTCCTGGGCCTGGCATTTGGAACCTGCCAGGCTGGCCTGGGAACACCCCCCTACAGGCACATATGAACGTACTGCATTCCTGCCGACCCCCCTGTCTAGGATGCATCCACACCCCCCCCAATTTTGCCCAGCAGCCTCCTGGCTGACCCTTGGCCACAGCCTTCTGAGGGCCAATGGAAATATTTGGGACCAAGATTCTTGGTAAATAAAAACGAAAATGTTTGCAAAAGGTGTCGCCTGCCCCTCCCCTCACACGGTGACACAGTGGGGTGTGTGACTGTT
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Task1_train_14831
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The gene CTSD (cathepsin D) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Neuronal ceroid lipofuscinosis 10
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AGCAACCCCAGGGCAGCAGCCATGAAGATGGGAGCTGGACGGAGCTGACAAGCTGCAGAAGGAGGGAGATGGGGAGAGTGGGACAGGGCAGGGACAACAGGGTATGGCTGCCTCCTTGTACCTCTCTGCCCTCCCAGGCCTCAGTGCACAAAGCATCTGATGACAGGACATTTGTCTCCCCAGAAGCCCTGCCAGGCCCTGCAGAGTTCTGCCCAGCTCTGCTCAGATTTCAGGCATGCCAAACGCCAGGCATGTGTTTCCAAGCCTCCGTGCCACCCTGGGTAAATGTTCTTGCTCCAGGTGTCTGCCGTAGCATGGCTCTGGGGTGAAAGCCCTGCAGCCCCTTGGGAGGAAGGCCAAGGCAGCCACCACCCTCAGGCAGAGGCATCAAGATAATGGCAAATGTCACATCTGCCTCATCTTCTAACCTGTTGGGGTGGGGCTCGAGGGGGCTCTAAGTGACTCCAGAGCTACTGATCCCAAAAGGAACTCTGCTCCCACCACCACATGCCCACAAACTCCTACTTACCTATTAGAACCCCAGGGGCTGCTACCACTGCATCCGGGCACACGCTCCCAACCCCTCCCCTCCCAGCGGAACAAGCGCACCGCGTTATCAGCCCGGGGATCCGTGACTGTGGCAGCTGTGGCTGGAGGGGACTTCTGAGTCCAATCCCTGCAACCAGGGACCCTGGGCAGGCTTGCTTGGTGCCAGCTCAGCTCACTGCACACAAAACCGCTTCTAGGGCCTGGGAGGCAAGAAGGCCCAGCTAGGCCAGCCCCCCCACGCCACCTGGGGCCATTTATTTCCCGGGACAAGAGGGCTGAGGAGGGTGACTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAGTGCCGTGGCTGCCTGGCTGGGCCACCTCCCTGAAATCACTCCTCAAGGCTGGCACTCACACTAGACACCCTGAAACCCCAGCCAAGGCCACATCCTGCCGGCTACTGCTCCAGACCTGGGAACAAGTCAGTCCCCGCTGGCCGACCAGGCTGGAGCCCATGGGCTGGGCAGGGCAGGGCAGGGGGCCATAGGCCCGGGGCACCCCAAATGCTTGTCCCGGTGCTGCCGAGTCAGCTGCCGTGCTGGCTTCGCACTACCCACCCTCCTTCCCCATCCCAAGTTGGAGCCACCCCTGACCAGGCACAAGAGCACACCAGCACAGAGGGGAGGCCGGAGGCCAACAACTGTATTTCCATGTCAGCTGGGGCTCTCAGCCGCCCAAGGGGAGGACAACAGAGGTCAGCTGCAGAGGAAGGCTGGCACCAGCCCCCAATCCCAACCCCACCTCCAGGCCAATACATGCCCCTGGGACTGGCTCAGTCCCAGCACCACCCTGCAGGCTCCAACAAGGTGGGTTTTGTCCCCTCTCACTCCTTCCAGCTCATCCTCAGGCCTCTAGCGGCCTCATCCTCAACGGGCCCGGGACACTGAACAGGTAGGGTGGCAGAGCCCAGCTGGGCCCAAGCTGGGCAGAGGGGCCCTCAGGCAGGGCAGGTTTCCAAGGGAGGGCCCGGGAGGACGGCCTGGTGTGGGGTAGGGGCTCAGCCCAGCGGGCGCTGGTAGGGCCGGGGAGGGGACTCCCTGGAGATGAAGGGAGCCCCAGGATACACGAGCTCGGCTGCCAAGCTTGGGTGGGGTCTTCCAATGCACGAAACAGATCTGTGCTCTGGATCAGCTCTACCCCCACCAAACAGATGGAGAGACAGACAGGCAGGCAGCATTTCTGAACCCAGGGAGGGGAAAACCACAGAACAAAACAGCAAGTCGGGCTTGGGCCGCCGGCTTCCAGGGCGCCCAGGACAGTGGGCGGGCGAGTGTGTGGGTGTGTGTGGGAGGGGCCGCTGGGCCAGGGGCCTCCTGCTCTGGGACTCTCCTCTGTTTCTGTGCTGGCGCGCGGACGCCTTGGGAACTAGAGGCGGGCAGCCTCGGCGAAGCCCACCCTGTTGTTGTCACGGTCAAACACAGTGTAGTAGCGGCCGATGAAGACGTCGCCCAGGATCCAGAGTGGCCCGCTGGGTGGCGGGATGTCCATGCCCATGAAGCCGCTCAGGCAGAGGGTCTTCCCGGCCTGCGACACCTGGGACGGCCCTGGTGGTCAGTACCCAGGCCTAGCACCACCCGCCCCCCCACCTGTTGCCCGCTCACCTGGAGCGTGCGCCCCCTCACCGCCCGCTCACCTGGGGCGTGCGGCACCCCATTGCCCGCTCACCTTGAGCGTGTAGTCCTCTGGGGACAGCTTGTAGCCTTTGCCTCCCAGCTTCAGTGTGATCGCGGGCAGGGTGGACACCTTCTCACAGGGGATCATGTACTAAGAGGGGTCACAGCAGTGTCAGGGTGGTAGTGGTGGCCTTGGGGCTCCCCCTGCCAGCCCCAGCCCCAGCCCCAGCCCCCGGCGCTCACCTCGCCCTGAATCAGCGGCACGGCCCCGATGGCCTTCTGCAGCTCGCGCACCTCATCCACCGGGCCCACCATGAGGGAAGTGCCTGTGTCCACAATGGCCTCACAGCCCTCCTTGCACAGGGTCAGCCCGCTGGCCACCTCCACCCTGCGGGGAGTCAGGGCGTGAAGCCCCTGCCGGGACTGGAGTGTGCCCTGGGGGCCCAGTGCCCCTCCCTGGGAGCCCCTCCCCTGGCTGGGCTGCACTCTCCTCCCCTCAGGGCTCCTGGAAGCACAGCCGGCTGTAAGCCCTCCAGGGAAGAGGGTGGGAGAGGAGACACAGAGTGGTAGAGGGGGTGGGAGACCCTCAGGTGGTGGTGAGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGATGGAGGGGCATGGAGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGGATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGGATGGAGGGGATGGAGGGCATGGAGGGATGGACAGAAGGGATGGTGGGTCATGGAGAGTCACAGAGGCATGGAGGAAATGGAGGGATGGAGGGATAGAGGGAATAGAGGGGATGGAGGTGATGGGGAGCATGGAGGGGCAAGGAGGGGCATGGAGGGCTGGTCTGACCCCATCTCTTTCTTGCCCAGCTCCCACTACTCCCCACATGCAACCCCCACCTGCAGAACCGGGGTCCTCCAGGGTCTCCGCACACCGCCCCCGCCCACAGAACCCAGGGGAGCCGACTGCAGCCACTACTCACTGGTCCAGGTGGACCTGCCAGTAGGCCTTGCGGGTGACATTCAGGTAGGACAGAGAACCCTTGTAATACTTGGAGTCTGTGCCACCCAGCATCAGCTCACCCCCAGGCTGCGCATCTGGGTCCCTAGGAGGAAAAGGGAGGAGTCAGCTGCCACGCCACCCCCCAAGCACAAGAGTGCCAGGTCAGGAGTAAGAGGGTGAATGTGGCAATCAGGGAGAGCTTCCTGAAGGAGGGGCCTTTCTGAAACTGCAGGGATGGAAAGGCCCAGAAGGCAGGAGGAGGGACAGACTCCCTTCTTCCCGGGGTAGGGCTGCTCTGCGTGGGCCCAGCCTGGCCCAGAAGAGGTTTTCCTCAACCCTCAGGTTCTCCTGGTCTGCTCAGGAGCCAAGGTTCAGCCAGACATCAGGGTCAAGGCTAGCGGCAGACAAGGAAGTGAGTGCCAGGAGCTCCACTGGGGAGGACCCTGTCTGTCTGTCTGGAAGAAAAAACCAAAGAAGGCTTCCAGGAGGGAGTGATGGCACAATCTGGGAAGTTGGGATGGCTGGTTCTGGCCGCAGGGCCTCTGCACTGGCTGCTCCTGGGAACACCCTCCACCTGCATCCCCGAGCCACGTCCGCTCATCTCCCCCTCATCCAGACCACTGATGGCCAGCCAAGGTGCTCCTGGGCAGGAGCGCACTGCACTTCCTAGGACCTGCAACCCATGTCGCCCGGGTTTGTTTCTAAACATTGCTCA
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AGCAACCCCAGGGCAGCAGCCATGAAGATGGGAGCTGGACGGAGCTGACAAGCTGCAGAAGGAGGGAGATGGGGAGAGTGGGACAGGGCAGGGACAACAGGGTATGGCTGCCTCCTTGTACCTCTCTGCCCTCCCAGGCCTCAGTGCACAAAGCATCTGATGACAGGACATTTGTCTCCCCAGAAGCCCTGCCAGGCCCTGCAGAGTTCTGCCCAGCTCTGCTCAGATTTCAGGCATGCCAAACGCCAGGCATGTGTTTCCAAGCCTCCGTGCCACCCTGGGTAAATGTTCTTGCTCCAGGTGTCTGCCGTAGCATGGCTCTGGGGTGAAAGCCCTGCAGCCCCTTGGGAGGAAGGCCAAGGCAGCCACCACCCTCAGGCAGAGGCATCAAGATAATGGCAAATGTCACATCTGCCTCATCTTCTAACCTGTTGGGGTGGGGCTCGAGGGGGCTCTAAGTGACTCCAGAGCTACTGATCCCAAAAGGAACTCTGCTCCCACCACCACATGCCCACAAACTCCTACTTACCTATTAGAACCCCAGGGGCTGCTACCACTGCATCCGGGCACACGCTCCCAACCCCTCCCCTCCCAGCGGAACAAGCGCACCGCGTTATCAGCCCGGGGATCCGTGACTGTGGCAGCTGTGGCTGGAGGGGACTTCTGAGTCCAATCCCTGCAACCAGGGACCCTGGGCAGGCTTGCTTGGTGCCAGCTCAGCTCACTGCACACAAAACCGCTTCTAGGGCCTGGGAGGCAAGAAGGCCCAGCTAGGCCAGCCCCCCCACGCCACCTGGGGCCATTTATTTCCCGGGACAAGAGGGCTGAGGAGGGTGACTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAGTGCCGTGGCTGCCTGGCTGGGCCACCTCCCTGAAATCACTCCTCAAGGCTGGCACTCACACTAGACACCCTGAAACCCCAGCCAAGGCCACATCCTGCCGGCTACTGCTCCAGACCTGGGAACAAGTCAGTCCCCGCTGGCCGACCAGGCTGGAGCCCATGGGCTGGGCAGGGCAGGGCAGGGGGCCATAGGCCCGGGGCACCCCAAATGCTTGTCCCGGTGCTGCCGAGTCAGCTGCCGTGCTGGCTTCGCACTACCCACCCTCCTTCCCCATCCCAAGTTGGAGCCACCCCTGACCAGGCACAAGAGCACACCAGCACAGAGGGGAGGCCGGAGGCCAACAACTGTATTTCCATGTCAGCTGGGGCTCTCAGCCGCCCAAGGGGAGGACAACAGAGGTCAGCTGCAGAGGAAGGCTGGCACCAGCCCCCAATCCCAACCCCACCTCCAGGCCAATACATGCCCCTGGGACTGGCTCAGTCCCAGCACCACCCTGCAGGCTCCAACAAGGTGGGTTTTGTCCCCTCTCACTCCTTCCAGCTCATCCTCAGGCCTCTAGCGGCCTCATCCTCAACGGGCCCGGGACACTGAACAGGTAGGGTGGCAGAGCCCAGCTGGGCCCAAGCTGGGCAGAGGGGCCCTCAGGCAGGGCAGGTTTCCAAGGGAGGGCCCGGGAGGACGGCCTGGTGTGGGGTAGGGGCTCAGCCCAGCGGGCGCTGGTAGGGCCGGGGAGGGGACTCCCTGGAGATGAAGGGAGCCCCAGGATACACGAGCTCGGCTGCCAAGCTTGGGTGGGGTCTTCCAATGCACGAAACAGATCTGTGCTCTGGATCAGCTCTACCCCCACCAAACAGATGGAGAGACAGACAGGCAGGCAGCATTTCTGAACCCAGGGAGGGGAAAACCACAGAACAAAACAGCAAGTCGGGCTTGGGCCGCCGGCTTCCAGGGCGCCCAGGACAGTGGGCGGGCGAGTGTGTGGGTGTGTGTGGGAGGGGCCGCTGGGCCAGGGGCCTCCTGCTCTGGGACTCTCCTCTGTTTCTGTGCTGGCGCGCGGACGCCTTGGGAACTAGAGGCGGGCAGCCTCGGCGAAGCCCACCCTGTTGTTGTCACGGTCAAACACAGTGTAGTAGCGGCCGATGAAGACGTCGCCCAGGATGCAGAGTGGCCCGCTGGGTGGCGGGATGTCCATGCCCATGAAGCCGCTCAGGCAGAGGGTCTTCCCGGCCTGCGACACCTGGGACGGCCCTGGTGGTCAGTACCCAGGCCTAGCACCACCCGCCCCCCCACCTGTTGCCCGCTCACCTGGAGCGTGCGCCCCCTCACCGCCCGCTCACCTGGGGCGTGCGGCACCCCATTGCCCGCTCACCTTGAGCGTGTAGTCCTCTGGGGACAGCTTGTAGCCTTTGCCTCCCAGCTTCAGTGTGATCGCGGGCAGGGTGGACACCTTCTCACAGGGGATCATGTACTAAGAGGGGTCACAGCAGTGTCAGGGTGGTAGTGGTGGCCTTGGGGCTCCCCCTGCCAGCCCCAGCCCCAGCCCCAGCCCCCGGCGCTCACCTCGCCCTGAATCAGCGGCACGGCCCCGATGGCCTTCTGCAGCTCGCGCACCTCATCCACCGGGCCCACCATGAGGGAAGTGCCTGTGTCCACAATGGCCTCACAGCCCTCCTTGCACAGGGTCAGCCCGCTGGCCACCTCCACCCTGCGGGGAGTCAGGGCGTGAAGCCCCTGCCGGGACTGGAGTGTGCCCTGGGGGCCCAGTGCCCCTCCCTGGGAGCCCCTCCCCTGGCTGGGCTGCACTCTCCTCCCCTCAGGGCTCCTGGAAGCACAGCCGGCTGTAAGCCCTCCAGGGAAGAGGGTGGGAGAGGAGACACAGAGTGGTAGAGGGGGTGGGAGACCCTCAGGTGGTGGTGAGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGATGGAGGGGCATGGAGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGGATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGGATGGAGGGGATGGAGGGCATGGAGGGATGGACAGAAGGGATGGTGGGTCATGGAGAGTCACAGAGGCATGGAGGAAATGGAGGGATGGAGGGATAGAGGGAATAGAGGGGATGGAGGTGATGGGGAGCATGGAGGGGCAAGGAGGGGCATGGAGGGCTGGTCTGACCCCATCTCTTTCTTGCCCAGCTCCCACTACTCCCCACATGCAACCCCCACCTGCAGAACCGGGGTCCTCCAGGGTCTCCGCACACCGCCCCCGCCCACAGAACCCAGGGGAGCCGACTGCAGCCACTACTCACTGGTCCAGGTGGACCTGCCAGTAGGCCTTGCGGGTGACATTCAGGTAGGACAGAGAACCCTTGTAATACTTGGAGTCTGTGCCACCCAGCATCAGCTCACCCCCAGGCTGCGCATCTGGGTCCCTAGGAGGAAAAGGGAGGAGTCAGCTGCCACGCCACCCCCCAAGCACAAGAGTGCCAGGTCAGGAGTAAGAGGGTGAATGTGGCAATCAGGGAGAGCTTCCTGAAGGAGGGGCCTTTCTGAAACTGCAGGGATGGAAAGGCCCAGAAGGCAGGAGGAGGGACAGACTCCCTTCTTCCCGGGGTAGGGCTGCTCTGCGTGGGCCCAGCCTGGCCCAGAAGAGGTTTTCCTCAACCCTCAGGTTCTCCTGGTCTGCTCAGGAGCCAAGGTTCAGCCAGACATCAGGGTCAAGGCTAGCGGCAGACAAGGAAGTGAGTGCCAGGAGCTCCACTGGGGAGGACCCTGTCTGTCTGTCTGGAAGAAAAAACCAAAGAAGGCTTCCAGGAGGGAGTGATGGCACAATCTGGGAAGTTGGGATGGCTGGTTCTGGCCGCAGGGCCTCTGCACTGGCTGCTCCTGGGAACACCCTCCACCTGCATCCCCGAGCCACGTCCGCTCATCTCCCCCTCATCCAGACCACTGATGGCCAGCCAAGGTGCTCCTGGGCAGGAGCGCACTGCACTTCCTAGGACCTGCAACCCATGTCGCCCGGGTTTGTTTCTAAACATTGCTCA
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Task1_train_14832
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This sequence variant lies in CTSD (cathepsin D) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Neuronal ceroid lipofuscinosis 10
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GTTCAGCCAGACATCAGGGTCAAGGCTAGCGGCAGACAAGGAAGTGAGTGCCAGGAGCTCCACTGGGGAGGACCCTGTCTGTCTGTCTGGAAGAAAAAACCAAAGAAGGCTTCCAGGAGGGAGTGATGGCACAATCTGGGAAGTTGGGATGGCTGGTTCTGGCCGCAGGGCCTCTGCACTGGCTGCTCCTGGGAACACCCTCCACCTGCATCCCCGAGCCACGTCCGCTCATCTCCCCCTCATCCAGACCACTGATGGCCAGCCAAGGTGCTCCTGGGCAGGAGCGCACTGCACTTCCTAGGACCTGCAACCCATGTCGCCCGGGTTTGTTTCTAAACATTGCTCAAGTACAGCTTTCAACGCAGCAAATCCTGCCGGTCCTGGTAGAGAAGCTCTCTGTGTCTGGGGCGGTTCTGCCATCCCGCCAGAGCGTCTGCAGCTAAGCTGGCCACCATCCCACTGCCTGTCACTCGAGGCAGTGCCAGGCCTGACCCAGTCCTCCCAACACCGATTGGGGCCTCCGCCCTCCTCCAGCCTCCTCCGCCTTTGCCTCTTGTCAACACCTCTGCAATCCCAAGTGTAGAAACCTGATCAGCGCCTCCCACCCCTCCTCTCCTCACCAAACATGCTTTCAGAAGCCCTCAGACCCTCCCTCCTGCCTGGCTCCACTTCCTGCCCAAGCTGCTGCCTTGAGACTACACCTGGGCACTCACAACCATGTGCACCTCCCCCACCTGGGCACTCACTCTGTGTGCCCCTCCTTCCACCTGGCACTCATGCCTGTGTATGCCTCCCCCGACCTGGGTACTCATACCGTGTGCCCCTCCCCCACATGGGCACTCATGCTGTGTGCCCCTCCCCCACATGGGCATTCATGCCTGTGTCCCCCTCCCTGACCTGGGTACTCAGGCTGTGTGCCCCCTCCCCATGTGGGCACTCATGCCTGCATGCCCTCTTGCCCTCAGGGGACCCCTTTTCACCTGGCTGCCTCCCCTGTGCCCCAAGGCTCCTGGGGAAATGGCCCAGCCGGTTCACCTGTGTCCTGGCCTCTAGTGAGCAGCTTAGCCCTGGGTGTTGCTAAGGAGTATTCACTGCCCAGGCAAGGGGCAGAGCAAAGAGGCCCAGCCAGCCCTACAGCCGGAATTCTGCCGGAAGCGATCCAAGGTTAGGGGTCAGGCCCAGAGACTCCAAGTGCCAAGTGAGCCACGTGAGGTAAACCTGCCCCTGTCAGCCCTGGAGAGTGTGGGGCAGTGACCAGGCGCAGCTCAGGGCAGGAGGCCGCCGGCTGACACGCTGCCCACCCCCAAAACAAAAGCCCCCAACCCCCAGTCACCCCTCTTATGTGGAACCCTCCACTCAGGTCTGCCCCGAGAAGAGGAAACTAACTGAGTCCGACGTCCCCTTCCCAAGGTCACCTGACCATGGGTCACCCAAGCTGGAGCAGCGGCTGCAGGTGGGGGCCCTGGGGGAGAACCCTTTTCCCAGAAGGAAGGGCCCCCTATGTTCCTCCTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAGAGCTGCTCGCAGCGTGGTGCCGGGGACCCATACGCACCCAAGGTCACCTCCCCGGGGATCCCCGGTCCCCTGGGCACCATGACCCTCTCCACCATCAGCAACCCCGGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGGCCAAACAGCTTTCTCTGTGCTGCCGCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTCAGAGGTCAGGAGCTCTGGCACAGCAGCAGGGAGGGGGCAGCACTGAGAGGGGGTGCCTAGAAGGCTCCCCGTCCAGCCCCGCCCTGCCTCCCAGCAACGCGGAGCGAGAGGGAACCCACACGCCCACCTGCTCAGGTAGAAGGAGAAGATGTTCTGGTCCACCAGCTTCTGCTGCATCAGGTTGTCGAAGACGGGCAGCACGTTGTTGACGGAGATGCGGGGGTAGGCCATGCCCAGGATGCCATCGAACTTGGCTGCGATGAAGGTGATGCCTGGCTGCTTGGTGGCCTCCCCAAAGACCTGCCTCTCCACTTTGACACCGCCCAGGGCAGAGGCTGACGACGCTGACTGGCAGGGCACCTGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGATGCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTGGAAACCCTGAGCTGAACACCGCTGGGGATGGGGACACGGGGTATGGCGGGGCCCTCTTCGTGGAAGTCATCAGGGCTCGGTTTACACGAGATGGGAACCAGGCAGGAGCACAGACGGGCAGGCCCCTTGCTCCGCTCCCTGCTCCGACCTCTTACTCCCACCACCAATGACAGGCAGGTCCTGCTCCTGCCCTCAGCGCTGGGAACAAGACACAGCCTGGGCCAGGAGCCCGAGAGATGGGGAACCTGCCGACCCCATCCCAAGCTCACAGCCATACTGCCCCCTTCCCCTTCTCTGCCTGTCCCCTCCCCCAGCCCTGGATGAGGCTGCAGAGAGAGAACACGGCCAGAGCAGGATGTGGGAAGGGAACGACAGCTTGAGGCTGACACGGGGCGGAGGGGGCAGAAGAGGGCGGAAGAGGGCAGACGGGGCAATTTCCTGTTCAGGCTGAGCAGGGTCCAGACAGGAGGGCTCTGAGGAGCCCCCAGTACAGACTGGACTCCAGCCCAGCAGGGAACTGTTAGGAGCAGCTTCAGCTGGAGGAAGGGGCCCTCTTCCCGGGTCCCTGGGCCTGCAGGGGGGCTCTGCTGCCCTCCTGGCCCGCTCCAGAGCTGGGGGCTGTGTCACCATCCCGTAACTCCTGAACCCCTTGTGGCCTGGTCCACCCCCAGCAGACAGCTCCGAGGTGAGAACTCACTGAGGCCCAGGCAGGGTGACAAGGGCCAGCTCACCCTCTCCTAGGGCAGGGAGTTGCTCTGCACAGGGCCCTGAGGATGGTGGATGCAGGCGGGGCCCCCAACAGCCACTGCTGCTCCCCCTCCCTTGCCCTCCCAGGCTCCTGCCGGTGACTCTCCGCCAGCAGCCCCCACAGCGGGTTCCTGGTACATCCTCCCAACCCCAAGCCTCCCCAAGCCCTCGGCCTGCTGCAGGGACCCTGTGCAGCCCCAGGTCCAGCCCTCAACACCTGCTGGCACCTCAAACCCAATGTGCCAAAAAGAGCCCGATCGATCTGCCCTGTCCTCCCTCCCACTCATTGTGGCCTGACTCCGGGGACCCCTGCCCCTGTACCCCCTGGGTTTGAGGCTGTCCCTCCAGCCTGCACACAACCAGGCCCATTCCCAGACCCCTCCTCACCCTGCTGACTGCCCCGGCCACCTGAGGGCTGGGGTTGGGCTGGGATCACCGAGCCCTCCCTTTCAACCACATACCCACGGTGGGTGAACCCCACACCCTGGCACCCTCGAGTCCTGGGAAAGGCCCCAGAGGGACTCACCGACACAGTGTCCTGGCTCAGGTACCCGGAGAGGCTGCCCGAGCCATAGTGGATGTCAAACGAGGTACCATTCTTCACGTAGGTGCTGGACTTGTCGCTGTTGTACTTGTGGTGGATCCCTGCCCCGGGCGACAAGGGGGCCCGCCGGTCATCCCGCAGCCCACGCCACGGCCTTAGCCCTCCCATCCCCCTACAATCTACCATGGAGCCCGCACCCCCCAAGCTGCCTCCCCAGGGTGGGATTTGGAGGGGATCTGAGGCCCACCATCATGCCAGAGCCCCGGGACTGTGGGCTGTGACCCCGGGCCTCCCTCCCAGCCACAGCCGGCTCCCTCTGTGGCCACCCCAGCCCCAGCCCTGCTGAGAGCAAGACCACAGCTGGTGGTTCACCCAGAAAGTCAGTGGCTGGAGCAGGGTGGAGG
|
GTTCAGCCAGACATCAGGGTCAAGGCTAGCGGCAGACAAGGAAGTGAGTGCCAGGAGCTCCACTGGGGAGGACCCTGTCTGTCTGTCTGGAAGAAAAAACCAAAGAAGGCTTCCAGGAGGGAGTGATGGCACAATCTGGGAAGTTGGGATGGCTGGTTCTGGCCGCAGGGCCTCTGCACTGGCTGCTCCTGGGAACACCCTCCACCTGCATCCCCGAGCCACGTCCGCTCATCTCCCCCTCATCCAGACCACTGATGGCCAGCCAAGGTGCTCCTGGGCAGGAGCGCACTGCACTTCCTAGGACCTGCAACCCATGTCGCCCGGGTTTGTTTCTAAACATTGCTCAAGTACAGCTTTCAACGCAGCAAATCCTGCCGGTCCTGGTAGAGAAGCTCTCTGTGTCTGGGGCGGTTCTGCCATCCCGCCAGAGCGTCTGCAGCTAAGCTGGCCACCATCCCACTGCCTGTCACTCGAGGCAGTGCCAGGCCTGACCCAGTCCTCCCAACACCGATTGGGGCCTCCGCCCTCCTCCAGCCTCCTCCGCCTTTGCCTCTTGTCAACACCTCTGCAATCCCAAGTGTAGAAACCTGATCAGCGCCTCCCACCCCTCCTCTCCTCACCAAACATGCTTTCAGAAGCCCTCAGACCCTCCCTCCTGCCTGGCTCCACTTCCTGCCCAAGCTGCTGCCTTGAGACTACACCTGGGCACTCACAACCATGTGCACCTCCCCCACCTGGGCACTCACTCTGTGTGCCCCTCCTTCCACCTGGCACTCATGCCTGTGTATGCCTCCCCCGACCTGGGTACTCATACCGTGTGCCCCTCCCCCACATGGGCACTCATGCTGTGTGCCCCTCCCCCACATGGGCATTCATGCCTGTGTCCCCCTCCCTGACCTGGGTACTCAGGCTGTGTGCCCCCTCCCCATGTGGGCACTCATGCCTGCATGCCCTCTTGCCCTCAGGGGACCCCTTTTCACCTGGCTGCCTCCCCTGTGCCCCAAGGCTCCTGGGGAAATGGCCCAGCCGGTTCACCTGTGTCCTGGCCTCTAGTGAGCAGCTTAGCCCTGGGTGTTGCTAAGGAGTATTCACTGCCCAGGCAAGGGGCAGAGCAAAGAGGCCCAGCCAGCCCTACAGCCGGAATTCTGCCGGAAGCGATCCAAGGTTAGGGGTCAGGCCCAGAGACTCCAAGTGCCAAGTGAGCCACGTGAGGTAAACCTGCCCCTGTCAGCCCTGGAGAGTGTGGGGCAGTGACCAGGCGCAGCTCAGGGCAGGAGGCCGCCGGCTGACACGCTGCCCACCCCCAAAACAAAAGCCCCCAACCCCCAGTCACCCCTCTTATGTGGAACCCTCCACTCAGGTCTGCCCCGAGAAGAGGAAACTAACTGAGTCCGACGTCCCCTTCCCAAGGTCACCTGACCATGGGTCACCCAAGCTGGAGCAGCGGCTGCAGGTGGGGGCCCTGGGGGAGAACCCTTTTCCCAGAAGGAAGGGCCCCCTATGTTCCTCCTCGAGGGCAGCCGGCACCTGCTGGGGACGCCCACAGAGCTGCTCGCAGCGTGGTGCCGGGGACCCATACGCACCCAAGGTCACCTCCCCGGGGATCCCCGGTCCCCTGGGCACCATGACCCTCTCCACCATCAGCAACCCCGGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGGCCAAACAGCTTTCTCTGTGCTGCCGCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTCAGAGGTCAGGAGCTCTGGCACAGCAGCAGGGAGGGGGCAGCACTGAGAGGGGGTGCCTAGAAGGCTCCCCGTCCAGCCCCGCCCTGCCTCCCAGCAACGCGGAGCGAGAGGGAACCCACACGCCCACCTGCTCAGGTAGAAGGAGATGATGTTCTGGTCCACCAGCTTCTGCTGCATCAGGTTGTCGAAGACGGGCAGCACGTTGTTGACGGAGATGCGGGGGTAGGCCATGCCCAGGATGCCATCGAACTTGGCTGCGATGAAGGTGATGCCTGGCTGCTTGGTGGCCTCCCCAAAGACCTGCCTCTCCACTTTGACACCGCCCAGGGCAGAGGCTGACGACGCTGACTGGCAGGGCACCTGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGATGCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTGGAAACCCTGAGCTGAACACCGCTGGGGATGGGGACACGGGGTATGGCGGGGCCCTCTTCGTGGAAGTCATCAGGGCTCGGTTTACACGAGATGGGAACCAGGCAGGAGCACAGACGGGCAGGCCCCTTGCTCCGCTCCCTGCTCCGACCTCTTACTCCCACCACCAATGACAGGCAGGTCCTGCTCCTGCCCTCAGCGCTGGGAACAAGACACAGCCTGGGCCAGGAGCCCGAGAGATGGGGAACCTGCCGACCCCATCCCAAGCTCACAGCCATACTGCCCCCTTCCCCTTCTCTGCCTGTCCCCTCCCCCAGCCCTGGATGAGGCTGCAGAGAGAGAACACGGCCAGAGCAGGATGTGGGAAGGGAACGACAGCTTGAGGCTGACACGGGGCGGAGGGGGCAGAAGAGGGCGGAAGAGGGCAGACGGGGCAATTTCCTGTTCAGGCTGAGCAGGGTCCAGACAGGAGGGCTCTGAGGAGCCCCCAGTACAGACTGGACTCCAGCCCAGCAGGGAACTGTTAGGAGCAGCTTCAGCTGGAGGAAGGGGCCCTCTTCCCGGGTCCCTGGGCCTGCAGGGGGGCTCTGCTGCCCTCCTGGCCCGCTCCAGAGCTGGGGGCTGTGTCACCATCCCGTAACTCCTGAACCCCTTGTGGCCTGGTCCACCCCCAGCAGACAGCTCCGAGGTGAGAACTCACTGAGGCCCAGGCAGGGTGACAAGGGCCAGCTCACCCTCTCCTAGGGCAGGGAGTTGCTCTGCACAGGGCCCTGAGGATGGTGGATGCAGGCGGGGCCCCCAACAGCCACTGCTGCTCCCCCTCCCTTGCCCTCCCAGGCTCCTGCCGGTGACTCTCCGCCAGCAGCCCCCACAGCGGGTTCCTGGTACATCCTCCCAACCCCAAGCCTCCCCAAGCCCTCGGCCTGCTGCAGGGACCCTGTGCAGCCCCAGGTCCAGCCCTCAACACCTGCTGGCACCTCAAACCCAATGTGCCAAAAAGAGCCCGATCGATCTGCCCTGTCCTCCCTCCCACTCATTGTGGCCTGACTCCGGGGACCCCTGCCCCTGTACCCCCTGGGTTTGAGGCTGTCCCTCCAGCCTGCACACAACCAGGCCCATTCCCAGACCCCTCCTCACCCTGCTGACTGCCCCGGCCACCTGAGGGCTGGGGTTGGGCTGGGATCACCGAGCCCTCCCTTTCAACCACATACCCACGGTGGGTGAACCCCACACCCTGGCACCCTCGAGTCCTGGGAAAGGCCCCAGAGGGACTCACCGACACAGTGTCCTGGCTCAGGTACCCGGAGAGGCTGCCCGAGCCATAGTGGATGTCAAACGAGGTACCATTCTTCACGTAGGTGCTGGACTTGTCGCTGTTGTACTTGTGGTGGATCCCTGCCCCGGGCGACAAGGGGGCCCGCCGGTCATCCCGCAGCCCACGCCACGGCCTTAGCCCTCCCATCCCCCTACAATCTACCATGGAGCCCGCACCCCCCAAGCTGCCTCCCCAGGGTGGGATTTGGAGGGGATCTGAGGCCCACCATCATGCCAGAGCCCCGGGACTGTGGGCTGTGACCCCGGGCCTCCCTCCCAGCCACAGCCGGCTCCCTCTGTGGCCACCCCAGCCCCAGCCCTGCTGAGAGCAAGACCACAGCTGGTGGTTCACCCAGAAAGTCAGTGGCTGGAGCAGGGTGGAGG
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Task1_train_14833
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An alteration has been detected in CTSD (cathepsin D) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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GGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGGCCAAACAGCTTTCTCTGTGCTGCCGCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTCAGAGGTCAGGAGCTCTGGCACAGCAGCAGGGAGGGGGCAGCACTGAGAGGGGGTGCCTAGAAGGCTCCCCGTCCAGCCCCGCCCTGCCTCCCAGCAACGCGGAGCGAGAGGGAACCCACACGCCCACCTGCTCAGGTAGAAGGAGAAGATGTTCTGGTCCACCAGCTTCTGCTGCATCAGGTTGTCGAAGACGGGCAGCACGTTGTTGACGGAGATGCGGGGGTAGGCCATGCCCAGGATGCCATCGAACTTGGCTGCGATGAAGGTGATGCCTGGCTGCTTGGTGGCCTCCCCAAAGACCTGCCTCTCCACTTTGACACCGCCCAGGGCAGAGGCTGACGACGCTGACTGGCAGGGCACCTGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGATGCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTGGAAACCCTGAGCTGAACACCGCTGGGGATGGGGACACGGGGTATGGCGGGGCCCTCTTCGTGGAAGTCATCAGGGCTCGGTTTACACGAGATGGGAACCAGGCAGGAGCACAGACGGGCAGGCCCCTTGCTCCGCTCCCTGCTCCGACCTCTTACTCCCACCACCAATGACAGGCAGGTCCTGCTCCTGCCCTCAGCGCTGGGAACAAGACACAGCCTGGGCCAGGAGCCCGAGAGATGGGGAACCTGCCGACCCCATCCCAAGCTCACAGCCATACTGCCCCCTTCCCCTTCTCTGCCTGTCCCCTCCCCCAGCCCTGGATGAGGCTGCAGAGAGAGAACACGGCCAGAGCAGGATGTGGGAAGGGAACGACAGCTTGAGGCTGACACGGGGCGGAGGGGGCAGAAGAGGGCGGAAGAGGGCAGACGGGGCAATTTCCTGTTCAGGCTGAGCAGGGTCCAGACAGGAGGGCTCTGAGGAGCCCCCAGTACAGACTGGACTCCAGCCCAGCAGGGAACTGTTAGGAGCAGCTTCAGCTGGAGGAAGGGGCCCTCTTCCCGGGTCCCTGGGCCTGCAGGGGGGCTCTGCTGCCCTCCTGGCCCGCTCCAGAGCTGGGGGCTGTGTCACCATCCCGTAACTCCTGAACCCCTTGTGGCCTGGTCCACCCCCAGCAGACAGCTCCGAGGTGAGAACTCACTGAGGCCCAGGCAGGGTGACAAGGGCCAGCTCACCCTCTCCTAGGGCAGGGAGTTGCTCTGCACAGGGCCCTGAGGATGGTGGATGCAGGCGGGGCCCCCAACAGCCACTGCTGCTCCCCCTCCCTTGCCCTCCCAGGCTCCTGCCGGTGACTCTCCGCCAGCAGCCCCCACAGCGGGTTCCTGGTACATCCTCCCAACCCCAAGCCTCCCCAAGCCCTCGGCCTGCTGCAGGGACCCTGTGCAGCCCCAGGTCCAGCCCTCAACACCTGCTGGCACCTCAAACCCAATGTGCCAAAAAGAGCCCGATCGATCTGCCCTGTCCTCCCTCCCACTCATTGTGGCCTGACTCCGGGGACCCCTGCCCCTGTACCCCCTGGGTTTGAGGCTGTCCCTCCAGCCTGCACACAACCAGGCCCATTCCCAGACCCCTCCTCACCCTGCTGACTGCCCCGGCCACCTGAGGGCTGGGGTTGGGCTGGGATCACCGAGCCCTCCCTTTCAACCACATACCCACGGTGGGTGAACCCCACACCCTGGCACCCTCGAGTCCTGGGAAAGGCCCCAGAGGGACTCACCGACACAGTGTCCTGGCTCAGGTACCCGGAGAGGCTGCCCGAGCCATAGTGGATGTCAAACGAGGTACCATTCTTCACGTAGGTGCTGGACTTGTCGCTGTTGTACTTGTGGTGGATCCCTGCCCCGGGCGACAAGGGGGCCCGCCGGTCATCCCGCAGCCCACGCCACGGCCTTAGCCCTCCCATCCCCCTACAATCTACCATGGAGCCCGCACCCCCCAAGCTGCCTCCCCAGGGTGGGATTTGGAGGGGATCTGAGGCCCACCATCATGCCAGAGCCCCGGGACTGTGGGCTGTGACCCCGGGCCTCCCTCCCAGCCACAGCCGGCTCCCTCTGTGGCCACCCCAGCCCCAGCCCTGCTGAGAGCAAGACCACAGCTGGTGGTTCACCCAGAAAGTCAGTGGCTGGAGCAGGGTGGAGGGCTGGCCTGGCTCACGGGGCCAAGAGGCAGGAGAATTGCGTTGCCCAAGTGATTCCTGAGGCAGCCCTGCAGCGACATCCCGGAAGGGCAGGACCTGGGCGACGGGGCCAGGGTTCGTGACTCACAGCAAGCGATGTCCAGCAGTTTGCAGTGGATGGAGGGGACCCACAGGTTGGAGGAGCCCGTGTCGAAGACGACTGTGAAGCACTGGGGGGGCGTCCCGATGCCAATCTCCCCGTAGTACTGGGCCTGGCAGGGGACAGGGTCCGTCAGGGATGGGAGAGGGGGCCCCATCTCCCCACTGGGCCTCAGAAGGCCCGGCTGTCCCCAGAGCCAAGGCCCATACTGGAGGGAGGGGCATCACGGGGCCCACAGCTGCCAACAGCCACCCACTCCCACCTGCTCAGCCTGCAGGGAAGATGGGCCAGGTCCCCAGCCCTCGGTCCTAATGCCCACGGGTACTTGGGGTCTCTAGACCCCTGGCTTCTGTCACCTACCCCTGCTCAATACATGGTGAGGCTGAGGACTTCCCCACGGAAAAGACAAGGCCAGAGGTCAAGCCAGGGTGGGGACAGACGTGGCCCTCAGCCTGAGCCCCGGGTGCAGGAAAGCCCGGCCTGGAAGACTCCCCTGGTGGCCCGCAGTCCAAGGTCTGAGAAAGGAAGTGACTTCCTCCCCAGGTTGGGGCCATGTCAAGGTCTGATTCTGGGTGTCTCAGTGCCTGCCCTGCCCTCCAGGGTGAACCCCAGGCTTGGAGGGCTTCCAGGCAGAGGGGTTCAGCTGGTCAAGGGGAGAAGGTAAGCCTTACAATCACTGCCTGCCCAGCAACCCTGCCTTAATGGCCCAGGGCCTCAGTTTCCCCGTGTGTACACAGGGATAGCAGGCGCAGGTGGGGGTGCTGACTCAGGGATCAGGCAAGTACAAGGGGTCCCATGCCGCCGAGCCTCTCAGGAGGCAGAGAGTAAGAGGGTCCTGGAGTTTGGGGTCGCCTGGGCGCCCGCTTCCCCCAGGATTGGAGCCTGGGCCACCGTCAGCCACCAGATTCCTGGCACCAGCCCAGCCCAATGTTTCTCCAACCGCCTGGCTTCACGGAGCAGCAGCAGCTGCTGACTCATGGCCCCACAGAAGTGACCACTGGCAGGGGGACACTCAGCAAATTTCCATGTGTGTGTGTGCATGTGTGCGCATGCGTGCATCTGCTTGCTCGCGCGCTAGGACAATCAGGAACTGGCCAGTCGGGACCAGGCACACGGCGCCTGGTTCCCCCCAGGGCCCCCCTGGCCCAGTCACATGCCTGTGAGTCTTGGGCTTCCTGTCACAGCCAGGACTCGGGCCAAGCAGGACAGAGGGCAAGGCTCCCCCACAGTGGGCCAGAGCCCCGAGGCTGGACAGTAGGCCCTGGCCTCGAACTGACCCCATAGAGCTGGGACCAGGCTGACCAAGCCCCAGCTTGCTAGGTGGCTTCCAGAGTGCTCCACCTTGGATCCTGCTTCCCCCTGAAGGAGTAGTGGGCACAGGAGGGGCTGTTGCGAGAGGAAGAAGATGGGGAGGGGCTGGGGAGGCCACGAGTCACCACAGGCCTCCCAGCAGGACAGCAGTGAAAGGCTCCAGGTCAGCCGGCCACACTCAGGCAGGCCCAAGGACCGCCCCC
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GGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGGCCAAACAGCTTTCTCTGTGCTGCCGCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTCAGAGGTCAGGAGCTCTGGCACAGCAGCAGGGAGGGGGCAGCACTGAGAGGGGGTGCCTAGAAGGCTCCCCGTCCAGCCCCGCCCTGCCTCCCAGCAACGCGGAGCGAGAGGGAACCCACACGCCCACCTGCTCAGGTAGAAGGAGAAGATGTTCTGGTCCACCAGCTTCTGCTGCATCAGGTTGTCGAAGACGGGCAGCACGTTGTTGACGGAGATGCGGGGGTAGGCCATGCCCAGGATGCCATCGAACTTGGCTGCGATGAAGGTGATGCCTGGCTGCTTGGTGGCCTCCCCAAAGACCTGCCTCTCCACTTTGACACCGCCCAGGGCAGAGGCTGACGACGCTGACTGGCAGGGCACCTGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGATGCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTGGAAACCCTGAGCTGAACACCGCTGGGGATGGGGACACGGGGTATGGCGGGGCCCTCTTCGTGGAAGTCATCAGGGCTCGGTTTACACGAGATGGGAACCAGGCAGGAGCACAGACGGGCAGGCCCCTTGCTCCGCTCCCTGCTCCGACCTCTTACTCCCACCACCAATGACAGGCAGGTCCTGCTCCTGCCCTCAGCGCTGGGAACAAGACACAGCCTGGGCCAGGAGCCCGAGAGATGGGGAACCTGCCGACCCCATCCCAAGCTCACAGCCATACTGCCCCCTTCCCCTTCTCTGCCTGTCCCCTCCCCCAGCCCTGGATGAGGCTGCAGAGAGAGAACACGGCCAGAGCAGGATGTGGGAAGGGAACGACAGCTTGAGGCTGACACGGGGCGGAGGGGGCAGAAGAGGGCGGAAGAGGGCAGACGGGGCAATTTCCTGTTCAGGCTGAGCAGGGTCCAGACAGGAGGGCTCTGAGGAGCCCCCAGTACAGACTGGACTCCAGCCCAGCAGGGAACTGTTAGGAGCAGCTTCAGCTGGAGGAAGGGGCCCTCTTCCCGGGTCCCTGGGCCTGCAGGGGGGCTCTGCTGCCCTCCTGGCCCGCTCCAGAGCTGGGGGCTGTGTCACCATCCCGTAACTCCTGAACCCCTTGTGGCCTGGTCCACCCCCAGCAGACAGCTCCGAGGTGAGAACTCACTGAGGCCCAGGCAGGGTGACAAGGGCCAGCTCACCCTCTCCTAGGGCAGGGAGTTGCTCTGCACAGGGCCCTGAGGATGGTGGATGCAGGCGGGGCCCCCAACAGCCACTGCTGCTCCCCCTCCCTTGCCCTCCCAGGCTCCTGCCGGTGACTCTCCGCCAGCAGCCCCCACAGCGGGTTCCTGGTACATCCTCCCAACCCCAAGCCTCCCCAAGCCCTCGGCCTGCTGCAGGGACCCTGTGCAGCCCCAGGTCCAGCCCTCAACACCTGCTGGCACCTCAAACCCAATGTGCCAAAAAGAGCCCGATCGATCTGCCCTGTCCTCCCTCCCACTCATTGTGGCCTGACTCCGGGGACCCCTGCCCCTGTACCCCCTGGGTTTGAGGCTGTCCCTCCAGCCTGCACACAACCAGGCCCATTCCCAGACCCCTCCTCACCCTGCTGACTGCCCCGGCCACCTGAGGGCTGGGGTTGGGCTGGGATCACCGAGCCCTCCCTTTCAACCACATACCCACGGTGGGTGAACCCCACACCCTGGCACCCTCGAGTCCTGGGAAAGGCCCCAGAGGGACTCACCGACACAGTGTCCTGGCTCAGGTACACGGAGAGGCTGCCCGAGCCATAGTGGATGTCAAACGAGGTACCATTCTTCACGTAGGTGCTGGACTTGTCGCTGTTGTACTTGTGGTGGATCCCTGCCCCGGGCGACAAGGGGGCCCGCCGGTCATCCCGCAGCCCACGCCACGGCCTTAGCCCTCCCATCCCCCTACAATCTACCATGGAGCCCGCACCCCCCAAGCTGCCTCCCCAGGGTGGGATTTGGAGGGGATCTGAGGCCCACCATCATGCCAGAGCCCCGGGACTGTGGGCTGTGACCCCGGGCCTCCCTCCCAGCCACAGCCGGCTCCCTCTGTGGCCACCCCAGCCCCAGCCCTGCTGAGAGCAAGACCACAGCTGGTGGTTCACCCAGAAAGTCAGTGGCTGGAGCAGGGTGGAGGGCTGGCCTGGCTCACGGGGCCAAGAGGCAGGAGAATTGCGTTGCCCAAGTGATTCCTGAGGCAGCCCTGCAGCGACATCCCGGAAGGGCAGGACCTGGGCGACGGGGCCAGGGTTCGTGACTCACAGCAAGCGATGTCCAGCAGTTTGCAGTGGATGGAGGGGACCCACAGGTTGGAGGAGCCCGTGTCGAAGACGACTGTGAAGCACTGGGGGGGCGTCCCGATGCCAATCTCCCCGTAGTACTGGGCCTGGCAGGGGACAGGGTCCGTCAGGGATGGGAGAGGGGGCCCCATCTCCCCACTGGGCCTCAGAAGGCCCGGCTGTCCCCAGAGCCAAGGCCCATACTGGAGGGAGGGGCATCACGGGGCCCACAGCTGCCAACAGCCACCCACTCCCACCTGCTCAGCCTGCAGGGAAGATGGGCCAGGTCCCCAGCCCTCGGTCCTAATGCCCACGGGTACTTGGGGTCTCTAGACCCCTGGCTTCTGTCACCTACCCCTGCTCAATACATGGTGAGGCTGAGGACTTCCCCACGGAAAAGACAAGGCCAGAGGTCAAGCCAGGGTGGGGACAGACGTGGCCCTCAGCCTGAGCCCCGGGTGCAGGAAAGCCCGGCCTGGAAGACTCCCCTGGTGGCCCGCAGTCCAAGGTCTGAGAAAGGAAGTGACTTCCTCCCCAGGTTGGGGCCATGTCAAGGTCTGATTCTGGGTGTCTCAGTGCCTGCCCTGCCCTCCAGGGTGAACCCCAGGCTTGGAGGGCTTCCAGGCAGAGGGGTTCAGCTGGTCAAGGGGAGAAGGTAAGCCTTACAATCACTGCCTGCCCAGCAACCCTGCCTTAATGGCCCAGGGCCTCAGTTTCCCCGTGTGTACACAGGGATAGCAGGCGCAGGTGGGGGTGCTGACTCAGGGATCAGGCAAGTACAAGGGGTCCCATGCCGCCGAGCCTCTCAGGAGGCAGAGAGTAAGAGGGTCCTGGAGTTTGGGGTCGCCTGGGCGCCCGCTTCCCCCAGGATTGGAGCCTGGGCCACCGTCAGCCACCAGATTCCTGGCACCAGCCCAGCCCAATGTTTCTCCAACCGCCTGGCTTCACGGAGCAGCAGCAGCTGCTGACTCATGGCCCCACAGAAGTGACCACTGGCAGGGGGACACTCAGCAAATTTCCATGTGTGTGTGTGCATGTGTGCGCATGCGTGCATCTGCTTGCTCGCGCGCTAGGACAATCAGGAACTGGCCAGTCGGGACCAGGCACACGGCGCCTGGTTCCCCCCAGGGCCCCCCTGGCCCAGTCACATGCCTGTGAGTCTTGGGCTTCCTGTCACAGCCAGGACTCGGGCCAAGCAGGACAGAGGGCAAGGCTCCCCCACAGTGGGCCAGAGCCCCGAGGCTGGACAGTAGGCCCTGGCCTCGAACTGACCCCATAGAGCTGGGACCAGGCTGACCAAGCCCCAGCTTGCTAGGTGGCTTCCAGAGTGCTCCACCTTGGATCCTGCTTCCCCCTGAAGGAGTAGTGGGCACAGGAGGGGCTGTTGCGAGAGGAAGAAGATGGGGAGGGGCTGGGGAGGCCACGAGTCACCACAGGCCTCCCAGCAGGACAGCAGTGAAAGGCTCCAGGTCAGCCGGCCACACTCAGGCAGGCCCAAGGACCGCCCCC
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Task1_train_14834
|
Chromosome 11 houses a mutation in gene TNNI2 (troponin I2, fast skeletal type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Distal arthrogryposis type 2B1
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GCTATGCCTGGGACATTTTGGGAACACTTTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCATCACACACTCCGACCCCGCCAGCCATGGCCCTAACCTCTGTCTTCTCTCCCCGTCCTGCCTGCGTCCTCCCTCCCTGGACAGTGAGGAGGTAAGTAGTTGCTGGGGGCTCAAAACATGACGAGGAGGGGGCTCCCCCAACTCAGCATAGGTCATAGGTCACAGCCTCAAGGCCCTAAGGCCCAGAGAAGATGGCCTGGCCCTCCCCGCTGGCAAAAGTGCCCCACCCACCCACCAAGACGCTGCTGAAAGAGAGGAAGTGGCTGCCCCAAGCCTTCTGGGGCAGGGGAAGTGTGGCTGTGGCCTGGTCACAGGGGAATCACTTCTTCTTTCTGATTCCTGCACTTCCCGCCCCCACCTCACCGGCCGACCTGCCCCCAACTGGCCCTCCTCTCCCCCAGCCTCTGGCCTCCCAGCACCATGTGCCACCTGGCAAAGTGTCACACACCACACAGCACCATGTCCCAGTGCAAGGTCTGGGGCCAGGGAGGCCCAGCCTGCCCATCATGGCCTCAGGAGCCCCCAGGCTCTGCTGGTCCCGGAGCCGGAGCCCCTGACCTGGCCAGGGAGCGTGGAAGGGGGTGGGGGTGCTCCAGGCCTGGAGGCCCTGACTCGACCCCCTGTCCCCTGCCCTGCAGAAGCGGAACAGGGCCATCACGGCCCGCAGGCAGCACCTGAAGGTAGGTGTGGGCTCCCGGGGGGGTGGCCCAGGTGGGTCTGCAGGGGAGCTGGCTGCAGCCCCTCACCGCCTGCCCCACCGCAGAGTGTGATGCTGCAGATAGCGGCCACGGAGCTGGAGAAGGAGGAGAGCCGCCGTGAGGCAGAGAAGCAGAACTACCTGGCGGAGCACTGCCCGCCGCTGCATATCCCGGGCTCCATGTCTGAAGTGCAGGTACCAGCCCCTCCCCGGCCACCCCGCCTCCCCAGCAGCAGGCCTGCCTGCTAACTCAGTTTCCCCACTTGTCAAGAGGGCCAGTGGGGTGGTCAGGGCAGGGGCAGGTGACCGTGGCTGCCAAGTGTCAGGACGGCCGCCCGCCCCCACACCCACCCCTAGGAGCTCTGCAAACAGCTGCACGCCAAGATCGATGCGGCTGAAGAGGAGAAGTACGACATGGAGGTGAGGGTGCAGAAGACCAGCAAGGAGGTGAGTGGTGGCGGCGGGCCGGCGGCAGGCGGGTAGGCGGTGGCCCAGCGGGCAGGCGGGGCGGGCCGGGGAGGCCGAGACCACCGGGACCTCGGGCTCCCACCCGGCTCCCCTGCCCACAGCTGGAGGACATGAACCAGAAGCTATTTGATCTGCGGGGCAAGTTCAAGCGGCCCCCACTGCGGAGGGTGCGCATGTCGGCCGATGCCATGCTCAAGGCCCTGCTGGGCTCGAAGCACAAGGTGTGCATGGACCTGAGGGCCAACCTGAAGCAGGTCAAGAAGGAGGACACAGAGAAGGTGCGTGCCACGGGGGGAGCACCACCACACCTACCCTGCCGGGGAAGCACCTCCCACACCTGCCCCGCCTGGGGACCACCTCCCACACCTGCCCTGCCGGGGGCCCTGTACCACTGCCCCTCCAGGGTGCCATGCAGGGGACACTCCACTGCCCAATGCAGAGGGTAAACTGAGGCTGAAGGTGGTGTGGACCAGGGTGCGTGCATAAGTGGGTGAGCCTGAGCTCTCTCCTGCCCTCTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGGAGGAAGAACATCGAGGAGAAGTCTGGCATGGAGGGCCGGAAGAAGATGTTTGAGTCCGAGTCCTAGGCCACTCGCTGCCCCTACGCCTGCCCCGGTGCCCGGCTCCCAGCAGAACATACTAGGGAGATGCACCCAGAGCCTGCCAGGGAGGGCTGGCCTCACCACCACCGTCAATAAAGGATTTGAATCCCCATGGCTGGTCTGGTCTGGCTCTCCCCAGCCTCTTGGGCCATGCTCTGGGCCCCCGCATCGGTGGCCTGCAGTGTGGTCAGTGGCCAGCGGGGAAAGCCTGGGAGGAGGCCACACGGGGCCTGGGATTTCAGGTTGGGAGGGAAGCTGCTTCCAGCAAGGAGGTGAGCCTGGGAAGGCCCCTACAGGGGAATCCACCCCAGGCTGCACGGGGCTGTTTGGTGAGGGCCCTGATAGTGCCCCAGGCGTTCCTGGGGCTCGGCCTGGGCACATCCAACATGCAGGGCTGGGGATGGAGGCTGTGGGACCGAGCCAGGTCTGGGTGGGAGTTCCTGAGATAAGTGGGTCTCACATTTGCACAGCCACGCAAAGGCCCTCCCGGGGCTCCAGAGAGATCCACACATGTGACACACGTGTGGCCCCCGCAGTGCTGGGGGCAGCCCCCTATGCCTCCCAAGCTGCCCCTCCTCAGGGAGCTCATCTGAGGCAGGAAGCCAAGGGCCACATTAGACCCCAGGCTGCTGTCCACGCGTGCCCACCCCCAGATCCTCCTGCTCATCCCCCTCCCACATCACTTTGGGACAGACCCCCAGCCCCGGGGCCTCCCTGCTTTTCCTATCTGCCCCCTGCCCTGAGCACTGAGGCTGGGCACGGGGAGCGTGGAGGGGCGAGCCTGCACGGTGGGCCATGACCAGGCCAAATTGGCAGTCTCCGGGCTGGGGACCAGCATGGTGCTGGGGGTTGGCCAGCCTGGTCTCTGGTCCTTACTGCCACCCTGAAAGGCAGGCTGTGTCACTCCTCACCATGCCAGGGGACCAAGAGACCTGTGCCCATCAGGCAGGGGCTAGGCCTGGCCCTGACCTGGCTCCAGTGTGGCTCCCAAGTCTCGTTTCCACTCAGCCCCAAGACCCAGCCCCATCTGGCCACCAAGGACAAGGCAGCTGACAGGTTCTGACAAGGCCGGTGACAGCAAGGCCACGTTATCAGCCCTGCTCTTTGAAGGCTGACAGAGCAGGCACGCCAAGGTCCCTGTGCTCAGATCTGCGCTGGGGAGGCTGCCAGCCTGCGCTGTGCCCTTGCCCCCGGGAGGTCCCATCGATTGATCTGCCGGAGGTGGACGTGCAGCGGCAGTTCCGCCTCGGGCTGCCTTGAGGGACTGACGTCAGTGGGCTCCCGGGACGGCCTTGGCTGTGTGCAGTCCCCTGCTTCCCGGGTACCCTACAGCCCTGGCACTCAGCTCTGACCTTTTCTGTAGCTGGAGCCCCACGCCAGTCCGAACCCCCCACCCGGGCCTTCTCCTTTAGCCTTCTGTAGGGGAAGGCACCGAGCAGGGCAGCTTGGGGCCAAGGGGGCACTGCCTGGTGGGTGCAGCTGTGGCAGAGGTGCATGGCACCCCATGCCAGAATGATGGGACCAGGCAAGGCCCAGGGTGTAGGAGGCCATGAGGCACAGAAGTGAGGCCCGAGACCTGGCCTGTCGGGGGGAAGCTGCCCAAGCCCAAGCCTCAGCTGAGACCTGAGGGAGGACAAGTGTGGAGGCAGAGGGTGCTGCAGGCTGGAGCACGTCCCATGCAGAGCCAGGCAGGCAACAGGCAGAGCGAGGGACAGGCGGCGGTGGGGCCTGGCCATGGACCCCTTGCAGGGGACATGGCACCTTTCCAGAGCCTGTGCCTACTGGGAAAGGGGGCGGGACCCAATCCCACAGGGCGTCAGGGGGGTGTGGCAGAGGAGTTGGGGCAGGCGCATCACACCTGGCTGCCAACCACAAGATTCAACTTGGCCGGGGCAGACACGCTGTGTGGGAAAATTATCTTTTTTATTTCAAAGCAAGGAAATGTTGAACACAAACACGAAATTCCAAAGAGTGAC
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GCTATGCCTGGGACATTTTGGGAACACTTTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCATCACACACTCCGACCCCGCCAGCCATGGCCCTAACCTCTGTCTTCTCTCCCCGTCCTGCCTGCGTCCTCCCTCCCTGGACAGTGAGGAGGTAAGTAGTTGCTGGGGGCTCAAAACATGACGAGGAGGGGGCTCCCCCAACTCAGCATAGGTCATAGGTCACAGCCTCAAGGCCCTAAGGCCCAGAGAAGATGGCCTGGCCCTCCCCGCTGGCAAAAGTGCCCCACCCACCCACCAAGACGCTGCTGAAAGAGAGGAAGTGGCTGCCCCAAGCCTTCTGGGGCAGGGGAAGTGTGGCTGTGGCCTGGTCACAGGGGAATCACTTCTTCTTTCTGATTCCTGCACTTCCCGCCCCCACCTCACCGGCCGACCTGCCCCCAACTGGCCCTCCTCTCCCCCAGCCTCTGGCCTCCCAGCACCATGTGCCACCTGGCAAAGTGTCACACACCACACAGCACCATGTCCCAGTGCAAGGTCTGGGGCCAGGGAGGCCCAGCCTGCCCATCATGGCCTCAGGAGCCCCCAGGCTCTGCTGGTCCCGGAGCCGGAGCCCCTGACCTGGCCAGGGAGCGTGGAAGGGGGTGGGGGTGCTCCAGGCCTGGAGGCCCTGACTCGACCCCCTGTCCCCTGCCCTGCAGAAGCGGAACAGGGCCATCACGGCCCGCAGGCAGCACCTGAAGGTAGGTGTGGGCTCCCGGGGGGGTGGCCCAGGTGGGTCTGCAGGGGAGCTGGCTGCAGCCCCTCACCGCCTGCCCCACCGCAGAGTGTGATGCTGCAGATAGCGGCCACGGAGCTGGAGAAGGAGGAGAGCCGCCGTGAGGCAGAGAAGCAGAACTACCTGGCGGAGCACTGCCCGCCGCTGCATATCCCGGGCTCCATGTCTGAAGTGCAGGTACCAGCCCCTCCCCGGCCACCCCGCCTCCCCAGCAGCAGGCCTGCCTGCTAACTCAGTTTCCCCACTTGTCAAGAGGGCCAGTGGGGTGGTCAGGGCAGGGGCAGGTGACCGTGGCTGCCAAGTGTCAGGACGGCCGCCCGCCCCCACACCCACCCCTAGGAGCTCTGCAAACAGCTGCACGCCAAGATCGATGCGGCTGAAGAGGAGAAGTACGACATGGAGGTGAGGGTGCAGAAGACCAGCAAGGAGGTGAGTGGTGGCGGCGGGCCGGCGGCAGGCGGGTAGGCGGTGGCCCAGCGGGCAGGCGGGGCGGGCCGGGGAGGCCGAGACCACCGGGACCTCGGGCTCCCACCCGGCTCCCCTGCCCACAGCTGGAGGACATGAACCAGAAGCTATTTGATCTGCGGGGCAAGTTCAAGCGGCCCCCACTGCGGAGGGTGCGCATGTCGGCCGATGCCATGCTCAAGGCCCTGCTGGGCTCGAAGCACAAGGTGTGCATGGACCTGAGGGCCAACCTGAAGCAGGTCAAGAAGGAGGACACAGAGAAGGTGCGTGCCACGGGGGGAGCACCACCACACCTACCCTGCCGGGGAAGCACCTCCCACACCTGCCCCGCCTGGGGACCACCTCCCACACCTGCCCTGCCGGGGGCCCTGTACCACTGCCCCTCCAGGGTGCCATGCAGGGGACACTCCACTGCCCAATGCAGAGGGTAAACTGAGGCTGAAGGTGGTGTGGACCAGGGTGCGTGCATAAGTGGGTGAGCCTGAGCTCTCTCCTGCCCTCTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGGAGGAAGAACTTCGAGGAGAAGTCTGGCATGGAGGGCCGGAAGAAGATGTTTGAGTCCGAGTCCTAGGCCACTCGCTGCCCCTACGCCTGCCCCGGTGCCCGGCTCCCAGCAGAACATACTAGGGAGATGCACCCAGAGCCTGCCAGGGAGGGCTGGCCTCACCACCACCGTCAATAAAGGATTTGAATCCCCATGGCTGGTCTGGTCTGGCTCTCCCCAGCCTCTTGGGCCATGCTCTGGGCCCCCGCATCGGTGGCCTGCAGTGTGGTCAGTGGCCAGCGGGGAAAGCCTGGGAGGAGGCCACACGGGGCCTGGGATTTCAGGTTGGGAGGGAAGCTGCTTCCAGCAAGGAGGTGAGCCTGGGAAGGCCCCTACAGGGGAATCCACCCCAGGCTGCACGGGGCTGTTTGGTGAGGGCCCTGATAGTGCCCCAGGCGTTCCTGGGGCTCGGCCTGGGCACATCCAACATGCAGGGCTGGGGATGGAGGCTGTGGGACCGAGCCAGGTCTGGGTGGGAGTTCCTGAGATAAGTGGGTCTCACATTTGCACAGCCACGCAAAGGCCCTCCCGGGGCTCCAGAGAGATCCACACATGTGACACACGTGTGGCCCCCGCAGTGCTGGGGGCAGCCCCCTATGCCTCCCAAGCTGCCCCTCCTCAGGGAGCTCATCTGAGGCAGGAAGCCAAGGGCCACATTAGACCCCAGGCTGCTGTCCACGCGTGCCCACCCCCAGATCCTCCTGCTCATCCCCCTCCCACATCACTTTGGGACAGACCCCCAGCCCCGGGGCCTCCCTGCTTTTCCTATCTGCCCCCTGCCCTGAGCACTGAGGCTGGGCACGGGGAGCGTGGAGGGGCGAGCCTGCACGGTGGGCCATGACCAGGCCAAATTGGCAGTCTCCGGGCTGGGGACCAGCATGGTGCTGGGGGTTGGCCAGCCTGGTCTCTGGTCCTTACTGCCACCCTGAAAGGCAGGCTGTGTCACTCCTCACCATGCCAGGGGACCAAGAGACCTGTGCCCATCAGGCAGGGGCTAGGCCTGGCCCTGACCTGGCTCCAGTGTGGCTCCCAAGTCTCGTTTCCACTCAGCCCCAAGACCCAGCCCCATCTGGCCACCAAGGACAAGGCAGCTGACAGGTTCTGACAAGGCCGGTGACAGCAAGGCCACGTTATCAGCCCTGCTCTTTGAAGGCTGACAGAGCAGGCACGCCAAGGTCCCTGTGCTCAGATCTGCGCTGGGGAGGCTGCCAGCCTGCGCTGTGCCCTTGCCCCCGGGAGGTCCCATCGATTGATCTGCCGGAGGTGGACGTGCAGCGGCAGTTCCGCCTCGGGCTGCCTTGAGGGACTGACGTCAGTGGGCTCCCGGGACGGCCTTGGCTGTGTGCAGTCCCCTGCTTCCCGGGTACCCTACAGCCCTGGCACTCAGCTCTGACCTTTTCTGTAGCTGGAGCCCCACGCCAGTCCGAACCCCCCACCCGGGCCTTCTCCTTTAGCCTTCTGTAGGGGAAGGCACCGAGCAGGGCAGCTTGGGGCCAAGGGGGCACTGCCTGGTGGGTGCAGCTGTGGCAGAGGTGCATGGCACCCCATGCCAGAATGATGGGACCAGGCAAGGCCCAGGGTGTAGGAGGCCATGAGGCACAGAAGTGAGGCCCGAGACCTGGCCTGTCGGGGGGAAGCTGCCCAAGCCCAAGCCTCAGCTGAGACCTGAGGGAGGACAAGTGTGGAGGCAGAGGGTGCTGCAGGCTGGAGCACGTCCCATGCAGAGCCAGGCAGGCAACAGGCAGAGCGAGGGACAGGCGGCGGTGGGGCCTGGCCATGGACCCCTTGCAGGGGACATGGCACCTTTCCAGAGCCTGTGCCTACTGGGAAAGGGGGCGGGACCCAATCCCACAGGGCGTCAGGGGGGTGTGGCAGAGGAGTTGGGGCAGGCGCATCACACCTGGCTGCCAACCACAAGATTCAACTTGGCCGGGGCAGACACGCTGTGTGGGAAAATTATCTTTTTTATTTCAAAGCAAGGAAATGTTGAACACAAACACGAAATTCCAAAGAGTGAC
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Task1_train_14835
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Here is a mutation in TNNI2 (troponin I2, fast skeletal type) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Distal arthrogryposis type 2B1
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TTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCATCACACACTCCGACCCCGCCAGCCATGGCCCTAACCTCTGTCTTCTCTCCCCGTCCTGCCTGCGTCCTCCCTCCCTGGACAGTGAGGAGGTAAGTAGTTGCTGGGGGCTCAAAACATGACGAGGAGGGGGCTCCCCCAACTCAGCATAGGTCATAGGTCACAGCCTCAAGGCCCTAAGGCCCAGAGAAGATGGCCTGGCCCTCCCCGCTGGCAAAAGTGCCCCACCCACCCACCAAGACGCTGCTGAAAGAGAGGAAGTGGCTGCCCCAAGCCTTCTGGGGCAGGGGAAGTGTGGCTGTGGCCTGGTCACAGGGGAATCACTTCTTCTTTCTGATTCCTGCACTTCCCGCCCCCACCTCACCGGCCGACCTGCCCCCAACTGGCCCTCCTCTCCCCCAGCCTCTGGCCTCCCAGCACCATGTGCCACCTGGCAAAGTGTCACACACCACACAGCACCATGTCCCAGTGCAAGGTCTGGGGCCAGGGAGGCCCAGCCTGCCCATCATGGCCTCAGGAGCCCCCAGGCTCTGCTGGTCCCGGAGCCGGAGCCCCTGACCTGGCCAGGGAGCGTGGAAGGGGGTGGGGGTGCTCCAGGCCTGGAGGCCCTGACTCGACCCCCTGTCCCCTGCCCTGCAGAAGCGGAACAGGGCCATCACGGCCCGCAGGCAGCACCTGAAGGTAGGTGTGGGCTCCCGGGGGGGTGGCCCAGGTGGGTCTGCAGGGGAGCTGGCTGCAGCCCCTCACCGCCTGCCCCACCGCAGAGTGTGATGCTGCAGATAGCGGCCACGGAGCTGGAGAAGGAGGAGAGCCGCCGTGAGGCAGAGAAGCAGAACTACCTGGCGGAGCACTGCCCGCCGCTGCATATCCCGGGCTCCATGTCTGAAGTGCAGGTACCAGCCCCTCCCCGGCCACCCCGCCTCCCCAGCAGCAGGCCTGCCTGCTAACTCAGTTTCCCCACTTGTCAAGAGGGCCAGTGGGGTGGTCAGGGCAGGGGCAGGTGACCGTGGCTGCCAAGTGTCAGGACGGCCGCCCGCCCCCACACCCACCCCTAGGAGCTCTGCAAACAGCTGCACGCCAAGATCGATGCGGCTGAAGAGGAGAAGTACGACATGGAGGTGAGGGTGCAGAAGACCAGCAAGGAGGTGAGTGGTGGCGGCGGGCCGGCGGCAGGCGGGTAGGCGGTGGCCCAGCGGGCAGGCGGGGCGGGCCGGGGAGGCCGAGACCACCGGGACCTCGGGCTCCCACCCGGCTCCCCTGCCCACAGCTGGAGGACATGAACCAGAAGCTATTTGATCTGCGGGGCAAGTTCAAGCGGCCCCCACTGCGGAGGGTGCGCATGTCGGCCGATGCCATGCTCAAGGCCCTGCTGGGCTCGAAGCACAAGGTGTGCATGGACCTGAGGGCCAACCTGAAGCAGGTCAAGAAGGAGGACACAGAGAAGGTGCGTGCCACGGGGGGAGCACCACCACACCTACCCTGCCGGGGAAGCACCTCCCACACCTGCCCCGCCTGGGGACCACCTCCCACACCTGCCCTGCCGGGGGCCCTGTACCACTGCCCCTCCAGGGTGCCATGCAGGGGACACTCCACTGCCCAATGCAGAGGGTAAACTGAGGCTGAAGGTGGTGTGGACCAGGGTGCGTGCATAAGTGGGTGAGCCTGAGCTCTCTCCTGCCCTCTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGGAGGAAGAACATCGAGGAGAAGTCTGGCATGGAGGGCCGGAAGAAGATGTTTGAGTCCGAGTCCTAGGCCACTCGCTGCCCCTACGCCTGCCCCGGTGCCCGGCTCCCAGCAGAACATACTAGGGAGATGCACCCAGAGCCTGCCAGGGAGGGCTGGCCTCACCACCACCGTCAATAAAGGATTTGAATCCCCATGGCTGGTCTGGTCTGGCTCTCCCCAGCCTCTTGGGCCATGCTCTGGGCCCCCGCATCGGTGGCCTGCAGTGTGGTCAGTGGCCAGCGGGGAAAGCCTGGGAGGAGGCCACACGGGGCCTGGGATTTCAGGTTGGGAGGGAAGCTGCTTCCAGCAAGGAGGTGAGCCTGGGAAGGCCCCTACAGGGGAATCCACCCCAGGCTGCACGGGGCTGTTTGGTGAGGGCCCTGATAGTGCCCCAGGCGTTCCTGGGGCTCGGCCTGGGCACATCCAACATGCAGGGCTGGGGATGGAGGCTGTGGGACCGAGCCAGGTCTGGGTGGGAGTTCCTGAGATAAGTGGGTCTCACATTTGCACAGCCACGCAAAGGCCCTCCCGGGGCTCCAGAGAGATCCACACATGTGACACACGTGTGGCCCCCGCAGTGCTGGGGGCAGCCCCCTATGCCTCCCAAGCTGCCCCTCCTCAGGGAGCTCATCTGAGGCAGGAAGCCAAGGGCCACATTAGACCCCAGGCTGCTGTCCACGCGTGCCCACCCCCAGATCCTCCTGCTCATCCCCCTCCCACATCACTTTGGGACAGACCCCCAGCCCCGGGGCCTCCCTGCTTTTCCTATCTGCCCCCTGCCCTGAGCACTGAGGCTGGGCACGGGGAGCGTGGAGGGGCGAGCCTGCACGGTGGGCCATGACCAGGCCAAATTGGCAGTCTCCGGGCTGGGGACCAGCATGGTGCTGGGGGTTGGCCAGCCTGGTCTCTGGTCCTTACTGCCACCCTGAAAGGCAGGCTGTGTCACTCCTCACCATGCCAGGGGACCAAGAGACCTGTGCCCATCAGGCAGGGGCTAGGCCTGGCCCTGACCTGGCTCCAGTGTGGCTCCCAAGTCTCGTTTCCACTCAGCCCCAAGACCCAGCCCCATCTGGCCACCAAGGACAAGGCAGCTGACAGGTTCTGACAAGGCCGGTGACAGCAAGGCCACGTTATCAGCCCTGCTCTTTGAAGGCTGACAGAGCAGGCACGCCAAGGTCCCTGTGCTCAGATCTGCGCTGGGGAGGCTGCCAGCCTGCGCTGTGCCCTTGCCCCCGGGAGGTCCCATCGATTGATCTGCCGGAGGTGGACGTGCAGCGGCAGTTCCGCCTCGGGCTGCCTTGAGGGACTGACGTCAGTGGGCTCCCGGGACGGCCTTGGCTGTGTGCAGTCCCCTGCTTCCCGGGTACCCTACAGCCCTGGCACTCAGCTCTGACCTTTTCTGTAGCTGGAGCCCCACGCCAGTCCGAACCCCCCACCCGGGCCTTCTCCTTTAGCCTTCTGTAGGGGAAGGCACCGAGCAGGGCAGCTTGGGGCCAAGGGGGCACTGCCTGGTGGGTGCAGCTGTGGCAGAGGTGCATGGCACCCCATGCCAGAATGATGGGACCAGGCAAGGCCCAGGGTGTAGGAGGCCATGAGGCACAGAAGTGAGGCCCGAGACCTGGCCTGTCGGGGGGAAGCTGCCCAAGCCCAAGCCTCAGCTGAGACCTGAGGGAGGACAAGTGTGGAGGCAGAGGGTGCTGCAGGCTGGAGCACGTCCCATGCAGAGCCAGGCAGGCAACAGGCAGAGCGAGGGACAGGCGGCGGTGGGGCCTGGCCATGGACCCCTTGCAGGGGACATGGCACCTTTCCAGAGCCTGTGCCTACTGGGAAAGGGGGCGGGACCCAATCCCACAGGGCGTCAGGGGGGTGTGGCAGAGGAGTTGGGGCAGGCGCATCACACCTGGCTGCCAACCACAAGATTCAACTTGGCCGGGGCAGACACGCTGTGTGGGAAAATTATCTTTTTTATTTCAAAGCAAGGAAATGTTGAACACAAACACGAAATTCCAAAGAGTGACCCTCTGGGGTGAGTGGGGTGGGGGCAGA
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TTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCATCACACACTCCGACCCCGCCAGCCATGGCCCTAACCTCTGTCTTCTCTCCCCGTCCTGCCTGCGTCCTCCCTCCCTGGACAGTGAGGAGGTAAGTAGTTGCTGGGGGCTCAAAACATGACGAGGAGGGGGCTCCCCCAACTCAGCATAGGTCATAGGTCACAGCCTCAAGGCCCTAAGGCCCAGAGAAGATGGCCTGGCCCTCCCCGCTGGCAAAAGTGCCCCACCCACCCACCAAGACGCTGCTGAAAGAGAGGAAGTGGCTGCCCCAAGCCTTCTGGGGCAGGGGAAGTGTGGCTGTGGCCTGGTCACAGGGGAATCACTTCTTCTTTCTGATTCCTGCACTTCCCGCCCCCACCTCACCGGCCGACCTGCCCCCAACTGGCCCTCCTCTCCCCCAGCCTCTGGCCTCCCAGCACCATGTGCCACCTGGCAAAGTGTCACACACCACACAGCACCATGTCCCAGTGCAAGGTCTGGGGCCAGGGAGGCCCAGCCTGCCCATCATGGCCTCAGGAGCCCCCAGGCTCTGCTGGTCCCGGAGCCGGAGCCCCTGACCTGGCCAGGGAGCGTGGAAGGGGGTGGGGGTGCTCCAGGCCTGGAGGCCCTGACTCGACCCCCTGTCCCCTGCCCTGCAGAAGCGGAACAGGGCCATCACGGCCCGCAGGCAGCACCTGAAGGTAGGTGTGGGCTCCCGGGGGGGTGGCCCAGGTGGGTCTGCAGGGGAGCTGGCTGCAGCCCCTCACCGCCTGCCCCACCGCAGAGTGTGATGCTGCAGATAGCGGCCACGGAGCTGGAGAAGGAGGAGAGCCGCCGTGAGGCAGAGAAGCAGAACTACCTGGCGGAGCACTGCCCGCCGCTGCATATCCCGGGCTCCATGTCTGAAGTGCAGGTACCAGCCCCTCCCCGGCCACCCCGCCTCCCCAGCAGCAGGCCTGCCTGCTAACTCAGTTTCCCCACTTGTCAAGAGGGCCAGTGGGGTGGTCAGGGCAGGGGCAGGTGACCGTGGCTGCCAAGTGTCAGGACGGCCGCCCGCCCCCACACCCACCCCTAGGAGCTCTGCAAACAGCTGCACGCCAAGATCGATGCGGCTGAAGAGGAGAAGTACGACATGGAGGTGAGGGTGCAGAAGACCAGCAAGGAGGTGAGTGGTGGCGGCGGGCCGGCGGCAGGCGGGTAGGCGGTGGCCCAGCGGGCAGGCGGGGCGGGCCGGGGAGGCCGAGACCACCGGGACCTCGGGCTCCCACCCGGCTCCCCTGCCCACAGCTGGAGGACATGAACCAGAAGCTATTTGATCTGCGGGGCAAGTTCAAGCGGCCCCCACTGCGGAGGGTGCGCATGTCGGCCGATGCCATGCTCAAGGCCCTGCTGGGCTCGAAGCACAAGGTGTGCATGGACCTGAGGGCCAACCTGAAGCAGGTCAAGAAGGAGGACACAGAGAAGGTGCGTGCCACGGGGGGAGCACCACCACACCTACCCTGCCGGGGAAGCACCTCCCACACCTGCCCCGCCTGGGGACCACCTCCCACACCTGCCCTGCCGGGGGCCCTGTACCACTGCCCCTCCAGGGTGCCATGCAGGGGACACTCCACTGCCCAATGCAGAGGGTAAACTGAGGCTGAAGGTGGTGTGGACCAGGGTGCGTGCATAAGTGGGTGAGCCTGAGCTCTCTCCTGCCCTCTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGGAGGAAGAACATCGAGGAGAAGTCTGGCATGGAGGGCCAGAAGAAGATGTTTGAGTCCGAGTCCTAGGCCACTCGCTGCCCCTACGCCTGCCCCGGTGCCCGGCTCCCAGCAGAACATACTAGGGAGATGCACCCAGAGCCTGCCAGGGAGGGCTGGCCTCACCACCACCGTCAATAAAGGATTTGAATCCCCATGGCTGGTCTGGTCTGGCTCTCCCCAGCCTCTTGGGCCATGCTCTGGGCCCCCGCATCGGTGGCCTGCAGTGTGGTCAGTGGCCAGCGGGGAAAGCCTGGGAGGAGGCCACACGGGGCCTGGGATTTCAGGTTGGGAGGGAAGCTGCTTCCAGCAAGGAGGTGAGCCTGGGAAGGCCCCTACAGGGGAATCCACCCCAGGCTGCACGGGGCTGTTTGGTGAGGGCCCTGATAGTGCCCCAGGCGTTCCTGGGGCTCGGCCTGGGCACATCCAACATGCAGGGCTGGGGATGGAGGCTGTGGGACCGAGCCAGGTCTGGGTGGGAGTTCCTGAGATAAGTGGGTCTCACATTTGCACAGCCACGCAAAGGCCCTCCCGGGGCTCCAGAGAGATCCACACATGTGACACACGTGTGGCCCCCGCAGTGCTGGGGGCAGCCCCCTATGCCTCCCAAGCTGCCCCTCCTCAGGGAGCTCATCTGAGGCAGGAAGCCAAGGGCCACATTAGACCCCAGGCTGCTGTCCACGCGTGCCCACCCCCAGATCCTCCTGCTCATCCCCCTCCCACATCACTTTGGGACAGACCCCCAGCCCCGGGGCCTCCCTGCTTTTCCTATCTGCCCCCTGCCCTGAGCACTGAGGCTGGGCACGGGGAGCGTGGAGGGGCGAGCCTGCACGGTGGGCCATGACCAGGCCAAATTGGCAGTCTCCGGGCTGGGGACCAGCATGGTGCTGGGGGTTGGCCAGCCTGGTCTCTGGTCCTTACTGCCACCCTGAAAGGCAGGCTGTGTCACTCCTCACCATGCCAGGGGACCAAGAGACCTGTGCCCATCAGGCAGGGGCTAGGCCTGGCCCTGACCTGGCTCCAGTGTGGCTCCCAAGTCTCGTTTCCACTCAGCCCCAAGACCCAGCCCCATCTGGCCACCAAGGACAAGGCAGCTGACAGGTTCTGACAAGGCCGGTGACAGCAAGGCCACGTTATCAGCCCTGCTCTTTGAAGGCTGACAGAGCAGGCACGCCAAGGTCCCTGTGCTCAGATCTGCGCTGGGGAGGCTGCCAGCCTGCGCTGTGCCCTTGCCCCCGGGAGGTCCCATCGATTGATCTGCCGGAGGTGGACGTGCAGCGGCAGTTCCGCCTCGGGCTGCCTTGAGGGACTGACGTCAGTGGGCTCCCGGGACGGCCTTGGCTGTGTGCAGTCCCCTGCTTCCCGGGTACCCTACAGCCCTGGCACTCAGCTCTGACCTTTTCTGTAGCTGGAGCCCCACGCCAGTCCGAACCCCCCACCCGGGCCTTCTCCTTTAGCCTTCTGTAGGGGAAGGCACCGAGCAGGGCAGCTTGGGGCCAAGGGGGCACTGCCTGGTGGGTGCAGCTGTGGCAGAGGTGCATGGCACCCCATGCCAGAATGATGGGACCAGGCAAGGCCCAGGGTGTAGGAGGCCATGAGGCACAGAAGTGAGGCCCGAGACCTGGCCTGTCGGGGGGAAGCTGCCCAAGCCCAAGCCTCAGCTGAGACCTGAGGGAGGACAAGTGTGGAGGCAGAGGGTGCTGCAGGCTGGAGCACGTCCCATGCAGAGCCAGGCAGGCAACAGGCAGAGCGAGGGACAGGCGGCGGTGGGGCCTGGCCATGGACCCCTTGCAGGGGACATGGCACCTTTCCAGAGCCTGTGCCTACTGGGAAAGGGGGCGGGACCCAATCCCACAGGGCGTCAGGGGGGTGTGGCAGAGGAGTTGGGGCAGGCGCATCACACCTGGCTGCCAACCACAAGATTCAACTTGGCCGGGGCAGACACGCTGTGTGGGAAAATTATCTTTTTTATTTCAAAGCAAGGAAATGTTGAACACAAACACGAAATTCCAAAGAGTGACCCTCTGGGGTGAGTGGGGTGGGGGCAGA
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Task1_train_14836
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This variant affects the gene TNNT3 (troponin T3, fast skeletal type) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Arthyrgryposis, distal, type 2B
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TTAGTCTTTTTTTTTTGCCTTTCCATTTTCCGTTTTTTTTTTTTTTTTCACATACATACGTTTTTCATTTGCGTGGTGTCATCTGGCCTTCTTTCCCTTAGAGGCACCTTCTGGTGCTCCTGAGCTTAGGAAACCCTTTCCTGCTCCAGTTTCTGATTGATATTTAGTTCCACTTTCTTCTATGGTTTGTTGGAAAAAATTGTTGTTGTTTTAACTCTTTGCTGCATCTGGAATGTATTGGTGAGAGGAGGGGACTGCACACCCAGCCGGAGAGGGGGCCTCATTTCCCCTTCAGATTGCTTTCTTCCCAGCCCCCTCTCCTCCTTCCTTTGGGCCCCCAGAGAGAAAGATGAAAGAGGGGCTGGGGAAAGGCACAGGCTCGCAGCAGCCATTCCTGCCCAGGGAGGCCACCGCCACCCACAGTGGCCATCGCTTCTCACCCGACATGGCTGCATTTGTTTATCTGTTTGAGGAGGAAACAGAGGTGCCCTCCCTGGTAGCTGGGGTGCAGTGACATTGCAATGGCCAGAAGCCAAAAGGCAGACGGTGGCGCTGGAAGCGGAAGCCTTCTTGAGGGGCTCAAGCCACTCTCAGGATGGTGGGCTACAAACCTCATAAGAATAAAGCTGGGGCAAACGTGTCACTAGGCGGGCATGCTTGGCTGGGGGCCAGAGCAGGAGGGCACCAGGGTTGGCAGGGGCCAGCGGGGAAAGCGCCAGGCTGACCCTCTGGGGTGGGTCTCCGGGTCTCTGCTCACGGGCCTCTCTGTCTCCTCTTCAGACTCACTGCTCCTAAGATCCCAGAAGGGGAGAAAGTGGACTTCGATGTAAGTTTACAGGACTCTGGTTAACATGTCCACGGTTTCCCCACACCCCAGCTTTTGGGCTCTAGGCCTCAGAAGGTCACTTCCTCCCAAGTAGCCAGAGCCGGGGCCTCCTGGGTCTGGGCAATTCTACCATAGCTTATTCCTGGGCCAGAGGAAACCCCTCTAAGAATAAGCATCTCTCTTCCCTTCTCCTCCATCTATCCTTCTATCCATCCATCCACCCACCCACGTAAGCTCCTACCCATTCACCTATCCATTCATACACCCACCCACACACCCATCCACTCAACCATCTATCCATCCATTCATCCACCCAACCACCCACCTACCCATCCATCCATCCATCCATCCATCCATCCTGCCTTACTTCCATCCATCCAACCAGCCACGTATCCACTCACCCATTCATCCATCCATCCACCCACCCAACCACCCATTCATACACTCACCTACCTATCCACTCACTCATCTCTCCACTCACCTACTCGCTCACCCACCCATCCACCCATCCATCCATCCATTCATACCACTCATTCATCTACTCATCCATCCATCGATCCATCTATCATCCACTCACTCACATAACCATCCACTCATCCACCCTCCCACCCACCCACCCATTCACCCATTCATCCTCCCATCCACCCACCCACCCACTCACCCACCATCCACGCATCCTCTACCATTAATCCACATAATCATTCCTCCACCCATCTACCTATCCATCCATTCATCCATCCATCCATTTCTCCAATCATCCATCTATCCACCCAGTCATCTGTCTCCATCCTCTCTCACTCATCCACCCATCCATCAGCTCATCTGTTCACATGCCTACCTATGTATCCAACAATTTCTCTCACTCTGCAGTCTTCTCTCTGCCAGGCCCATGCAGGGCATCTCTGAGGATGATGACAGAGCCAAGTCAGGGCCAGTCCATCCTAAGGATGCTGAGGACCTTATGGCTGGGCACCATCCCTGCTGTGTGGCTCAGGAATCAGGCCACCCTCGGCCCCTATGAGGATAGCAGCCATGGCAATGTGGAGAAGGCAAAACATTCCTTGCCACTTGCCATTTTCATGGTGGCCAAGGGAGTCAGGGCTTCTCTGCTGGGGCAAAGGAAGGGACCTCTTGCTGCAAGGCAGGCCAGGCAGGGCAGAGGTTGGAGAGAGGGGTGGGGCTCACACCCACTGCCCCTGCCCACAGGACATCCAGAAGAAGCGTCAGAACAAAGACCTAATGGAGCTCCAGGCCCTCATCGACAGCCACTTTGAAGCCCGGAAGAAGGAGGAGGAGGAGCTGGTCGCTCTCAAAGAGAGAATCGTGAGTGGGGCAGTTCAGGTTGCAGCAGGGGCTGGTGGACTCCCTCGGAGGAGCCGGGGACAGGGCTGAGCAGACCCCCTTCTCTGGCTGCAGGAGAAGCGCCGTGCAGAGAGAGCGGAGCAGCAGAGGATTCGTGCAGAGAAGGAGAGGGAGCGCCAGAACAGACTGGCGGTGAGGGCACCATCCGCACTGCTGCCTCATCAGAGAATGAGCCCCAGGCCCAGAGAAATGCAGGGGGCTGAGGCCTTCCTTCTCCCGGGGTTCCCATTGTCATTGGCCAATGATCAGAACCACTGGCTAAGGCCCCGGCGCCCTGCAGAACCCCTTGCCAGAAAACAAATCCTGGCCAAGACCTGGAGCTTCCTTCCAGATAGTTCTAAGCCCAGGGTGGGCCCTTCCAGACAGCTCTAAGCCCAGGGTGGGTCCCTAAAGCCTGCCCAGAAAGCATAGCCCTCTCTCCATCCCTGAGCATCTTGGGAATGGGGTCTCCACAGGAGGAAAAGGCCAGAAGGGAGGAGGAGGATGCCAAGAGGAGGGCAGAGGACGACCTGAAGAAGAAGAAAGCTCTGTCTTCCATGGGAGCCAACTACAGCAGCTACCTGGCCAAGGTGTGTGCCGCTGCTGGGAGCACGGTGGTAGCCTTCAGTGTGGGCTACGCCCTGTGCCCTCCTGAGACCAGGCCCCTCTCTTTGGGCCTGTCCGCTGCAGGCTGACCAGAAGAGAGGCAAGAAGCAGACAGCCCGGGAAATGAAGAAGAAGATTCTGGCTGAGAGACGCAAGCCGCTCAACATCGATCACCTTGGTGAAGACAAACTGAGGTGAGGGGTGGGTGTTGTGGGGCTCAGCCCCACGGGGTGGCCCCTGCAGGAGCTGCCGACTGCTCCTCAGGCTGCCAAGGACCGTGCTCCCCAGTGGCTGCAGGAGGACTCCAGGGGCCTGGCCCTGCCTTTGGGGCTTATTCAACGAAGCCTCACCACTTCCTCTGCCCCAGGGACAAGGCCAAGGAGCTCTGGGAGACCCTGCACCAGCTGGAGATTGACAAGTTCGAGTTTGGGGAGAAGCTGAAACGCCAGAAATATGACGTGAGTCCCGGCACCTCCGGCCCTGGGGCCCTAGCGGCTTTCACCCACCAGCAGAGCAGCCATCTCCCTGCGTCCCTACCAAACTCTGGACCTGCCCACCCCAGGGACCTGGACCCTGAGAGGCCCAAACAGGCTGTTGCCACGGACCCCTGGCTGAGGCTGCTTTCCTGCTGGGGACTGTGGCCAGAGCCCGTCCTCCTGGCTGGCCATGCAGCGCCCTGAGCGATGAACCTGGCCCCTTTGGGCGGCCTTGGTTACCCCTGCCAAAAGGACTGTCGTGGCAGAGCAGCCATGGCCAAGTGGACTCAGGGTTCATTTTCGGAACCCCTTTAAGCTTATAGAAAGTCCCCATCATCACCCAGCTCGGCCCCGGGGCACCGAGTCCGTCTGGTGTGGGGCGTCCTTTCGACAGAGCCTCCTCCACAAACCCAGACTCTGGCTTCCACCAGGGCCCCGGACACCTGCTTCCTCAGGGCAGACAGAGAGGGGTGACACACTGCACCCTGTGGCTGGGAAAAGGGGCCTGGGACTGTGCCCGTCTGGGACGGAGCAGAGCCACCATCCCATGCAGGCACTATCACCGCAGGCAAAGCTGGGACTGGGGAAGGCAGCCTGCCCGGGCGGCCTCAGGGACTGGGGTACAATGTGGGAGCTAGGGTGGAAGCCAAGCTGCTTCCCACCCTCCCAAACACCCGTTTGGGCTCCAGGGGCGAGGGGTGAGGGGCGCAGCCATGGGTGATCCACGTGCTCGGGGCAAATGCAGACACTCCAGCATCACCATCAGGGCCACGATGTCCACCCTCCAGCACCGCCAGAGGCCCCAGGGGAGGGCGGCTGTGCCCACGGGGCTTGTGCTCTACCCAGG
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TTAGTCTTTTTTTTTTGCCTTTCCATTTTCCGTTTTTTTTTTTTTTTTCACATACATACGTTTTTCATTTGCGTGGTGTCATCTGGCCTTCTTTCCCTTAGAGGCACCTTCTGGTGCTCCTGAGCTTAGGAAACCCTTTCCTGCTCCAGTTTCTGATTGATATTTAGTTCCACTTTCTTCTATGGTTTGTTGGAAAAAATTGTTGTTGTTTTAACTCTTTGCTGCATCTGGAATGTATTGGTGAGAGGAGGGGACTGCACACCCAGCCGGAGAGGGGGCCTCATTTCCCCTTCAGATTGCTTTCTTCCCAGCCCCCTCTCCTCCTTCCTTTGGGCCCCCAGAGAGAAAGATGAAAGAGGGGCTGGGGAAAGGCACAGGCTCGCAGCAGCCATTCCTGCCCAGGGAGGCCACCGCCACCCACAGTGGCCATCGCTTCTCACCCGACATGGCTGCATTTGTTTATCTGTTTGAGGAGGAAACAGAGGTGCCCTCCCTGGTAGCTGGGGTGCAGTGACATTGCAATGGCCAGAAGCCAAAAGGCAGACGGTGGCGCTGGAAGCGGAAGCCTTCTTGAGGGGCTCAAGCCACTCTCAGGATGGTGGGCTACAAACCTCATAAGAATAAAGCTGGGGCAAACGTGTCACTAGGCGGGCATGCTTGGCTGGGGGCCAGAGCAGGAGGGCACCAGGGTTGGCAGGGGCCAGCGGGGAAAGCGCCAGGCTGACCCTCTGGGGTGGGTCTCCGGGTCTCTGCTCACGGGCCTCTCTGTCTCCTCTTCAGACTCACTGCTCCTAAGATCCCAGAAGGGGAGAAAGTGGACTTCGATGTAAGTTTACAGGACTCTGGTTAACATGTCCACGGTTTCCCCACACCCCAGCTTTTGGGCTCTAGGCCTCAGAAGGTCACTTCCTCCCAAGTAGCCAGAGCCGGGGCCTCCTGGGTCTGGGCAATTCTACCATAGCTTATTCCTGGGCCAGAGGAAACCCCTCTAAGAATAAGCATCTCTCTTCCCTTCTCCTCCATCTATCCTTCTATCCATCCATCCACCCACCCACGTAAGCTCCTACCCATTCACCTATCCATTCATACACCCACCCACACACCCATCCACTCAACCATCTATCCATCCATTCATCCACCCAACCACCCACCTACCCATCCATCCATCCATCCATCCATCCATCCTGCCTTACTTCCATCCATCCAACCAGCCACGTATCCACTCACCCATTCATCCATCCATCCACCCACCCAACCACCCATTCATACACTCACCTACCTATCCACTCACTCATCTCTCCACTCACCTACTCGCTCACCCACCCATCCACCCATCCATCCATCCATTCATACCACTCATTCATCTACTCATCCATCCATCGATCCATCTATCATCCACTCACTCACATAACCATCCACTCATCCACCCTCCCACCCACCCACCCATTCACCCATTCATCCTCCCATCCACCCACCCACCCACTCACCCACCATCCACGCATCCTCTACCATTAATCCACATAATCATTCCTCCACCCATCTACCTATCCATCCATTCATCCATCCATCCATTTCTCCAATCATCCATCTATCCACCCAGTCATCTGTCTCCATCCTCTCTCACTCATCCACCCATCCATCAGCTCATCTGTTCACATGCCTACCTATGTATCCAACAATTTCTCTCACTCTGCAGTCTTCTCTCTGCCAGGCCCATGCAGGGCATCTCTGAGGATGATGACAGAGCCAAGTCAGGGCCAGTCCATCCTAAGGATGCTGAGGACCTTATGGCTGGGCACCATCCCTGCTGTGTGGCTCAGGAATCAGGCCACCCTCGGCCCCTATGAGGATAGCAGCCATGGCAATGTGGAGAAGGCAAAACATTCCTTGCCACTTGCCATTTTCATGGTGGCCAAGGGAGTCAGGGCTTCTCTGCTGGGGCAAAGGAAGGGACCTCTTGCTGCAAGGCAGGCCAGGCAGGGCAGAGGTTGGAGAGAGGGGTGGGGCTCACACCCACTGCCCCTGCCCACAGGACATCCAGAAGAAGCATCAGAACAAAGACCTAATGGAGCTCCAGGCCCTCATCGACAGCCACTTTGAAGCCCGGAAGAAGGAGGAGGAGGAGCTGGTCGCTCTCAAAGAGAGAATCGTGAGTGGGGCAGTTCAGGTTGCAGCAGGGGCTGGTGGACTCCCTCGGAGGAGCCGGGGACAGGGCTGAGCAGACCCCCTTCTCTGGCTGCAGGAGAAGCGCCGTGCAGAGAGAGCGGAGCAGCAGAGGATTCGTGCAGAGAAGGAGAGGGAGCGCCAGAACAGACTGGCGGTGAGGGCACCATCCGCACTGCTGCCTCATCAGAGAATGAGCCCCAGGCCCAGAGAAATGCAGGGGGCTGAGGCCTTCCTTCTCCCGGGGTTCCCATTGTCATTGGCCAATGATCAGAACCACTGGCTAAGGCCCCGGCGCCCTGCAGAACCCCTTGCCAGAAAACAAATCCTGGCCAAGACCTGGAGCTTCCTTCCAGATAGTTCTAAGCCCAGGGTGGGCCCTTCCAGACAGCTCTAAGCCCAGGGTGGGTCCCTAAAGCCTGCCCAGAAAGCATAGCCCTCTCTCCATCCCTGAGCATCTTGGGAATGGGGTCTCCACAGGAGGAAAAGGCCAGAAGGGAGGAGGAGGATGCCAAGAGGAGGGCAGAGGACGACCTGAAGAAGAAGAAAGCTCTGTCTTCCATGGGAGCCAACTACAGCAGCTACCTGGCCAAGGTGTGTGCCGCTGCTGGGAGCACGGTGGTAGCCTTCAGTGTGGGCTACGCCCTGTGCCCTCCTGAGACCAGGCCCCTCTCTTTGGGCCTGTCCGCTGCAGGCTGACCAGAAGAGAGGCAAGAAGCAGACAGCCCGGGAAATGAAGAAGAAGATTCTGGCTGAGAGACGCAAGCCGCTCAACATCGATCACCTTGGTGAAGACAAACTGAGGTGAGGGGTGGGTGTTGTGGGGCTCAGCCCCACGGGGTGGCCCCTGCAGGAGCTGCCGACTGCTCCTCAGGCTGCCAAGGACCGTGCTCCCCAGTGGCTGCAGGAGGACTCCAGGGGCCTGGCCCTGCCTTTGGGGCTTATTCAACGAAGCCTCACCACTTCCTCTGCCCCAGGGACAAGGCCAAGGAGCTCTGGGAGACCCTGCACCAGCTGGAGATTGACAAGTTCGAGTTTGGGGAGAAGCTGAAACGCCAGAAATATGACGTGAGTCCCGGCACCTCCGGCCCTGGGGCCCTAGCGGCTTTCACCCACCAGCAGAGCAGCCATCTCCCTGCGTCCCTACCAAACTCTGGACCTGCCCACCCCAGGGACCTGGACCCTGAGAGGCCCAAACAGGCTGTTGCCACGGACCCCTGGCTGAGGCTGCTTTCCTGCTGGGGACTGTGGCCAGAGCCCGTCCTCCTGGCTGGCCATGCAGCGCCCTGAGCGATGAACCTGGCCCCTTTGGGCGGCCTTGGTTACCCCTGCCAAAAGGACTGTCGTGGCAGAGCAGCCATGGCCAAGTGGACTCAGGGTTCATTTTCGGAACCCCTTTAAGCTTATAGAAAGTCCCCATCATCACCCAGCTCGGCCCCGGGGCACCGAGTCCGTCTGGTGTGGGGCGTCCTTTCGACAGAGCCTCCTCCACAAACCCAGACTCTGGCTTCCACCAGGGCCCCGGACACCTGCTTCCTCAGGGCAGACAGAGAGGGGTGACACACTGCACCCTGTGGCTGGGAAAAGGGGCCTGGGACTGTGCCCGTCTGGGACGGAGCAGAGCCACCATCCCATGCAGGCACTATCACCGCAGGCAAAGCTGGGACTGGGGAAGGCAGCCTGCCCGGGCGGCCTCAGGGACTGGGGTACAATGTGGGAGCTAGGGTGGAAGCCAAGCTGCTTCCCACCCTCCCAAACACCCGTTTGGGCTCCAGGGGCGAGGGGTGAGGGGCGCAGCCATGGGTGATCCACGTGCTCGGGGCAAATGCAGACACTCCAGCATCACCATCAGGGCCACGATGTCCACCCTCCAGCACCGCCAGAGGCCCCAGGGGAGGGCGGCTGTGCCCACGGGGCTTGTGCTCTACCCAGG
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Task1_train_14837
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The variant affects gene TNNT3 (troponin T3, fast skeletal type), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Arthrogryposis, distal, type 2B2
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TTAGTCTTTTTTTTTTGCCTTTCCATTTTCCGTTTTTTTTTTTTTTTTCACATACATACGTTTTTCATTTGCGTGGTGTCATCTGGCCTTCTTTCCCTTAGAGGCACCTTCTGGTGCTCCTGAGCTTAGGAAACCCTTTCCTGCTCCAGTTTCTGATTGATATTTAGTTCCACTTTCTTCTATGGTTTGTTGGAAAAAATTGTTGTTGTTTTAACTCTTTGCTGCATCTGGAATGTATTGGTGAGAGGAGGGGACTGCACACCCAGCCGGAGAGGGGGCCTCATTTCCCCTTCAGATTGCTTTCTTCCCAGCCCCCTCTCCTCCTTCCTTTGGGCCCCCAGAGAGAAAGATGAAAGAGGGGCTGGGGAAAGGCACAGGCTCGCAGCAGCCATTCCTGCCCAGGGAGGCCACCGCCACCCACAGTGGCCATCGCTTCTCACCCGACATGGCTGCATTTGTTTATCTGTTTGAGGAGGAAACAGAGGTGCCCTCCCTGGTAGCTGGGGTGCAGTGACATTGCAATGGCCAGAAGCCAAAAGGCAGACGGTGGCGCTGGAAGCGGAAGCCTTCTTGAGGGGCTCAAGCCACTCTCAGGATGGTGGGCTACAAACCTCATAAGAATAAAGCTGGGGCAAACGTGTCACTAGGCGGGCATGCTTGGCTGGGGGCCAGAGCAGGAGGGCACCAGGGTTGGCAGGGGCCAGCGGGGAAAGCGCCAGGCTGACCCTCTGGGGTGGGTCTCCGGGTCTCTGCTCACGGGCCTCTCTGTCTCCTCTTCAGACTCACTGCTCCTAAGATCCCAGAAGGGGAGAAAGTGGACTTCGATGTAAGTTTACAGGACTCTGGTTAACATGTCCACGGTTTCCCCACACCCCAGCTTTTGGGCTCTAGGCCTCAGAAGGTCACTTCCTCCCAAGTAGCCAGAGCCGGGGCCTCCTGGGTCTGGGCAATTCTACCATAGCTTATTCCTGGGCCAGAGGAAACCCCTCTAAGAATAAGCATCTCTCTTCCCTTCTCCTCCATCTATCCTTCTATCCATCCATCCACCCACCCACGTAAGCTCCTACCCATTCACCTATCCATTCATACACCCACCCACACACCCATCCACTCAACCATCTATCCATCCATTCATCCACCCAACCACCCACCTACCCATCCATCCATCCATCCATCCATCCATCCTGCCTTACTTCCATCCATCCAACCAGCCACGTATCCACTCACCCATTCATCCATCCATCCACCCACCCAACCACCCATTCATACACTCACCTACCTATCCACTCACTCATCTCTCCACTCACCTACTCGCTCACCCACCCATCCACCCATCCATCCATCCATTCATACCACTCATTCATCTACTCATCCATCCATCGATCCATCTATCATCCACTCACTCACATAACCATCCACTCATCCACCCTCCCACCCACCCACCCATTCACCCATTCATCCTCCCATCCACCCACCCACCCACTCACCCACCATCCACGCATCCTCTACCATTAATCCACATAATCATTCCTCCACCCATCTACCTATCCATCCATTCATCCATCCATCCATTTCTCCAATCATCCATCTATCCACCCAGTCATCTGTCTCCATCCTCTCTCACTCATCCACCCATCCATCAGCTCATCTGTTCACATGCCTACCTATGTATCCAACAATTTCTCTCACTCTGCAGTCTTCTCTCTGCCAGGCCCATGCAGGGCATCTCTGAGGATGATGACAGAGCCAAGTCAGGGCCAGTCCATCCTAAGGATGCTGAGGACCTTATGGCTGGGCACCATCCCTGCTGTGTGGCTCAGGAATCAGGCCACCCTCGGCCCCTATGAGGATAGCAGCCATGGCAATGTGGAGAAGGCAAAACATTCCTTGCCACTTGCCATTTTCATGGTGGCCAAGGGAGTCAGGGCTTCTCTGCTGGGGCAAAGGAAGGGACCTCTTGCTGCAAGGCAGGCCAGGCAGGGCAGAGGTTGGAGAGAGGGGTGGGGCTCACACCCACTGCCCCTGCCCACAGGACATCCAGAAGAAGCGTCAGAACAAAGACCTAATGGAGCTCCAGGCCCTCATCGACAGCCACTTTGAAGCCCGGAAGAAGGAGGAGGAGGAGCTGGTCGCTCTCAAAGAGAGAATCGTGAGTGGGGCAGTTCAGGTTGCAGCAGGGGCTGGTGGACTCCCTCGGAGGAGCCGGGGACAGGGCTGAGCAGACCCCCTTCTCTGGCTGCAGGAGAAGCGCCGTGCAGAGAGAGCGGAGCAGCAGAGGATTCGTGCAGAGAAGGAGAGGGAGCGCCAGAACAGACTGGCGGTGAGGGCACCATCCGCACTGCTGCCTCATCAGAGAATGAGCCCCAGGCCCAGAGAAATGCAGGGGGCTGAGGCCTTCCTTCTCCCGGGGTTCCCATTGTCATTGGCCAATGATCAGAACCACTGGCTAAGGCCCCGGCGCCCTGCAGAACCCCTTGCCAGAAAACAAATCCTGGCCAAGACCTGGAGCTTCCTTCCAGATAGTTCTAAGCCCAGGGTGGGCCCTTCCAGACAGCTCTAAGCCCAGGGTGGGTCCCTAAAGCCTGCCCAGAAAGCATAGCCCTCTCTCCATCCCTGAGCATCTTGGGAATGGGGTCTCCACAGGAGGAAAAGGCCAGAAGGGAGGAGGAGGATGCCAAGAGGAGGGCAGAGGACGACCTGAAGAAGAAGAAAGCTCTGTCTTCCATGGGAGCCAACTACAGCAGCTACCTGGCCAAGGTGTGTGCCGCTGCTGGGAGCACGGTGGTAGCCTTCAGTGTGGGCTACGCCCTGTGCCCTCCTGAGACCAGGCCCCTCTCTTTGGGCCTGTCCGCTGCAGGCTGACCAGAAGAGAGGCAAGAAGCAGACAGCCCGGGAAATGAAGAAGAAGATTCTGGCTGAGAGACGCAAGCCGCTCAACATCGATCACCTTGGTGAAGACAAACTGAGGTGAGGGGTGGGTGTTGTGGGGCTCAGCCCCACGGGGTGGCCCCTGCAGGAGCTGCCGACTGCTCCTCAGGCTGCCAAGGACCGTGCTCCCCAGTGGCTGCAGGAGGACTCCAGGGGCCTGGCCCTGCCTTTGGGGCTTATTCAACGAAGCCTCACCACTTCCTCTGCCCCAGGGACAAGGCCAAGGAGCTCTGGGAGACCCTGCACCAGCTGGAGATTGACAAGTTCGAGTTTGGGGAGAAGCTGAAACGCCAGAAATATGACGTGAGTCCCGGCACCTCCGGCCCTGGGGCCCTAGCGGCTTTCACCCACCAGCAGAGCAGCCATCTCCCTGCGTCCCTACCAAACTCTGGACCTGCCCACCCCAGGGACCTGGACCCTGAGAGGCCCAAACAGGCTGTTGCCACGGACCCCTGGCTGAGGCTGCTTTCCTGCTGGGGACTGTGGCCAGAGCCCGTCCTCCTGGCTGGCCATGCAGCGCCCTGAGCGATGAACCTGGCCCCTTTGGGCGGCCTTGGTTACCCCTGCCAAAAGGACTGTCGTGGCAGAGCAGCCATGGCCAAGTGGACTCAGGGTTCATTTTCGGAACCCCTTTAAGCTTATAGAAAGTCCCCATCATCACCCAGCTCGGCCCCGGGGCACCGAGTCCGTCTGGTGTGGGGCGTCCTTTCGACAGAGCCTCCTCCACAAACCCAGACTCTGGCTTCCACCAGGGCCCCGGACACCTGCTTCCTCAGGGCAGACAGAGAGGGGTGACACACTGCACCCTGTGGCTGGGAAAAGGGGCCTGGGACTGTGCCCGTCTGGGACGGAGCAGAGCCACCATCCCATGCAGGCACTATCACCGCAGGCAAAGCTGGGACTGGGGAAGGCAGCCTGCCCGGGCGGCCTCAGGGACTGGGGTACAATGTGGGAGCTAGGGTGGAAGCCAAGCTGCTTCCCACCCTCCCAAACACCCGTTTGGGCTCCAGGGGCGAGGGGTGAGGGGCGCAGCCATGGGTGATCCACGTGCTCGGGGCAAATGCAGACACTCCAGCATCACCATCAGGGCCACGATGTCCACCCTCCAGCACCGCCAGAGGCCCCAGGGGAGGGCGGCTGTGCCCACGGGGCTTGTGCTCTACCCAGG
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TTAGTCTTTTTTTTTTGCCTTTCCATTTTCCGTTTTTTTTTTTTTTTTCACATACATACGTTTTTCATTTGCGTGGTGTCATCTGGCCTTCTTTCCCTTAGAGGCACCTTCTGGTGCTCCTGAGCTTAGGAAACCCTTTCCTGCTCCAGTTTCTGATTGATATTTAGTTCCACTTTCTTCTATGGTTTGTTGGAAAAAATTGTTGTTGTTTTAACTCTTTGCTGCATCTGGAATGTATTGGTGAGAGGAGGGGACTGCACACCCAGCCGGAGAGGGGGCCTCATTTCCCCTTCAGATTGCTTTCTTCCCAGCCCCCTCTCCTCCTTCCTTTGGGCCCCCAGAGAGAAAGATGAAAGAGGGGCTGGGGAAAGGCACAGGCTCGCAGCAGCCATTCCTGCCCAGGGAGGCCACCGCCACCCACAGTGGCCATCGCTTCTCACCCGACATGGCTGCATTTGTTTATCTGTTTGAGGAGGAAACAGAGGTGCCCTCCCTGGTAGCTGGGGTGCAGTGACATTGCAATGGCCAGAAGCCAAAAGGCAGACGGTGGCGCTGGAAGCGGAAGCCTTCTTGAGGGGCTCAAGCCACTCTCAGGATGGTGGGCTACAAACCTCATAAGAATAAAGCTGGGGCAAACGTGTCACTAGGCGGGCATGCTTGGCTGGGGGCCAGAGCAGGAGGGCACCAGGGTTGGCAGGGGCCAGCGGGGAAAGCGCCAGGCTGACCCTCTGGGGTGGGTCTCCGGGTCTCTGCTCACGGGCCTCTCTGTCTCCTCTTCAGACTCACTGCTCCTAAGATCCCAGAAGGGGAGAAAGTGGACTTCGATGTAAGTTTACAGGACTCTGGTTAACATGTCCACGGTTTCCCCACACCCCAGCTTTTGGGCTCTAGGCCTCAGAAGGTCACTTCCTCCCAAGTAGCCAGAGCCGGGGCCTCCTGGGTCTGGGCAATTCTACCATAGCTTATTCCTGGGCCAGAGGAAACCCCTCTAAGAATAAGCATCTCTCTTCCCTTCTCCTCCATCTATCCTTCTATCCATCCATCCACCCACCCACGTAAGCTCCTACCCATTCACCTATCCATTCATACACCCACCCACACACCCATCCACTCAACCATCTATCCATCCATTCATCCACCCAACCACCCACCTACCCATCCATCCATCCATCCATCCATCCATCCTGCCTTACTTCCATCCATCCAACCAGCCACGTATCCACTCACCCATTCATCCATCCATCCACCCACCCAACCACCCATTCATACACTCACCTACCTATCCACTCACTCATCTCTCCACTCACCTACTCGCTCACCCACCCATCCACCCATCCATCCATCCATTCATACCACTCATTCATCTACTCATCCATCCATCGATCCATCTATCATCCACTCACTCACATAACCATCCACTCATCCACCCTCCCACCCACCCACCCATTCACCCATTCATCCTCCCATCCACCCACCCACCCACTCACCCACCATCCACGCATCCTCTACCATTAATCCACATAATCATTCCTCCACCCATCTACCTATCCATCCATTCATCCATCCATCCATTTCTCCAATCATCCATCTATCCACCCAGTCATCTGTCTCCATCCTCTCTCACTCATCCACCCATCCATCAGCTCATCTGTTCACATGCCTACCTATGTATCCAACAATTTCTCTCACTCTGCAGTCTTCTCTCTGCCAGGCCCATGCAGGGCATCTCTGAGGATGATGACAGAGCCAAGTCAGGGCCAGTCCATCCTAAGGATGCTGAGGACCTTATGGCTGGGCACCATCCCTGCTGTGTGGCTCAGGAATCAGGCCACCCTCGGCCCCTATGAGGATAGCAGCCATGGCAATGTGGAGAAGGCAAAACATTCCTTGCCACTTGCCATTTTCATGGTGGCCAAGGGAGTCAGGGCTTCTCTGCTGGGGCAAAGGAAGGGACCTCTTGCTGCAAGGCAGGCCAGGCAGGGCAGAGGTTGGAGAGAGGGGTGGGGCTCACACCCACTGCCCCTGCCCACAGGACATCCAGAAGAAGCATCAGAACAAAGACCTAATGGAGCTCCAGGCCCTCATCGACAGCCACTTTGAAGCCCGGAAGAAGGAGGAGGAGGAGCTGGTCGCTCTCAAAGAGAGAATCGTGAGTGGGGCAGTTCAGGTTGCAGCAGGGGCTGGTGGACTCCCTCGGAGGAGCCGGGGACAGGGCTGAGCAGACCCCCTTCTCTGGCTGCAGGAGAAGCGCCGTGCAGAGAGAGCGGAGCAGCAGAGGATTCGTGCAGAGAAGGAGAGGGAGCGCCAGAACAGACTGGCGGTGAGGGCACCATCCGCACTGCTGCCTCATCAGAGAATGAGCCCCAGGCCCAGAGAAATGCAGGGGGCTGAGGCCTTCCTTCTCCCGGGGTTCCCATTGTCATTGGCCAATGATCAGAACCACTGGCTAAGGCCCCGGCGCCCTGCAGAACCCCTTGCCAGAAAACAAATCCTGGCCAAGACCTGGAGCTTCCTTCCAGATAGTTCTAAGCCCAGGGTGGGCCCTTCCAGACAGCTCTAAGCCCAGGGTGGGTCCCTAAAGCCTGCCCAGAAAGCATAGCCCTCTCTCCATCCCTGAGCATCTTGGGAATGGGGTCTCCACAGGAGGAAAAGGCCAGAAGGGAGGAGGAGGATGCCAAGAGGAGGGCAGAGGACGACCTGAAGAAGAAGAAAGCTCTGTCTTCCATGGGAGCCAACTACAGCAGCTACCTGGCCAAGGTGTGTGCCGCTGCTGGGAGCACGGTGGTAGCCTTCAGTGTGGGCTACGCCCTGTGCCCTCCTGAGACCAGGCCCCTCTCTTTGGGCCTGTCCGCTGCAGGCTGACCAGAAGAGAGGCAAGAAGCAGACAGCCCGGGAAATGAAGAAGAAGATTCTGGCTGAGAGACGCAAGCCGCTCAACATCGATCACCTTGGTGAAGACAAACTGAGGTGAGGGGTGGGTGTTGTGGGGCTCAGCCCCACGGGGTGGCCCCTGCAGGAGCTGCCGACTGCTCCTCAGGCTGCCAAGGACCGTGCTCCCCAGTGGCTGCAGGAGGACTCCAGGGGCCTGGCCCTGCCTTTGGGGCTTATTCAACGAAGCCTCACCACTTCCTCTGCCCCAGGGACAAGGCCAAGGAGCTCTGGGAGACCCTGCACCAGCTGGAGATTGACAAGTTCGAGTTTGGGGAGAAGCTGAAACGCCAGAAATATGACGTGAGTCCCGGCACCTCCGGCCCTGGGGCCCTAGCGGCTTTCACCCACCAGCAGAGCAGCCATCTCCCTGCGTCCCTACCAAACTCTGGACCTGCCCACCCCAGGGACCTGGACCCTGAGAGGCCCAAACAGGCTGTTGCCACGGACCCCTGGCTGAGGCTGCTTTCCTGCTGGGGACTGTGGCCAGAGCCCGTCCTCCTGGCTGGCCATGCAGCGCCCTGAGCGATGAACCTGGCCCCTTTGGGCGGCCTTGGTTACCCCTGCCAAAAGGACTGTCGTGGCAGAGCAGCCATGGCCAAGTGGACTCAGGGTTCATTTTCGGAACCCCTTTAAGCTTATAGAAAGTCCCCATCATCACCCAGCTCGGCCCCGGGGCACCGAGTCCGTCTGGTGTGGGGCGTCCTTTCGACAGAGCCTCCTCCACAAACCCAGACTCTGGCTTCCACCAGGGCCCCGGACACCTGCTTCCTCAGGGCAGACAGAGAGGGGTGACACACTGCACCCTGTGGCTGGGAAAAGGGGCCTGGGACTGTGCCCGTCTGGGACGGAGCAGAGCCACCATCCCATGCAGGCACTATCACCGCAGGCAAAGCTGGGACTGGGGAAGGCAGCCTGCCCGGGCGGCCTCAGGGACTGGGGTACAATGTGGGAGCTAGGGTGGAAGCCAAGCTGCTTCCCACCCTCCCAAACACCCGTTTGGGCTCCAGGGGCGAGGGGTGAGGGGCGCAGCCATGGGTGATCCACGTGCTCGGGGCAAATGCAGACACTCCAGCATCACCATCAGGGCCACGATGTCCACCCTCCAGCACCGCCAGAGGCCCCAGGGGAGGGCGGCTGTGCCCACGGGGCTTGTGCTCTACCCAGG
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Task1_train_14838
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A genomic change on Chromosome 11 affects IGF2, INS-IGF2 (insulin like growth factor 2| INS-IGF2 readthrough). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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TGCTCCCGGGCCACACAGCAAGCAAGGAAGTCACGGGTCCTTGTCCCTGGCCAAGAGGTCCCAGAGGCCACAGGAAACGCTGGGCGCCCGAAGCCCTATTTCTCTGTCTCTAGAGAGTGGGAAAGGGGCCCAGGACCCTCACCGGAAGCACGGTCGGAGGGGTCGACACGTCCCTCTCGGACTTGGCGGGGGTAGCACAGTACGTCTCCAGGAGGGCCAGGTCACAGCTGCGGAAACAGCACTCCTCAACGATGCCACGGCTGCGACGGCTCACACGGCTTGCGGGCCTGCCTGGAAGTCCCACAGCACAGAGAGAGCCGTGTTAGCACCGCACTGACCCCAGCCCCCGGAGGCTGAAGGGGGAGCAAACCACCCCTGCCCTCAGGCCAGGCCCTGGAAGGACGCAGCCACCCTGCGGGTCAGGGGAGGGAAGTGAGAGCTGGCAGGCAGAGGCGTCCCAGGAAGAAGAGAGGTGAGAGGGGAGGTGAGTGGGACCCAGACCAGCCCGTGGCCTCTGCTGCCTCCTTCCTCAGATGAAAAATGGGCACAAGCTCTTGGTCCCACAACCAGAGGGACACCACCAGGACCAAAGGCTCACAATGGGAGTGGTTTGGAAAATGTGTGGGATGTGAGCCCAGTTCAGGGGCCCCCACAGGAGGGACTGCTGTCCCTGAGCTTGGACTCTGGCCTGGCACCACCTAGGAGGCTGGAGGGGCCCACACCACCCCTGGAGCTGCTGAGACAGGGAGACAAGGGCAGGAGAGGAGAAGACGGGAGGAGAGGAGTGAGGAGGCGTGATGGAACCACTCCCTTCTTTCCTCCCGTCTTCCCCCTCTCCCCCACAGCAATGCTCAGCTGGAAGGGGAAGGTCGCTGGGGGCTCCACCTTGGGGTGCCAAAGGGCAGGTGCCATCAGCCGGAGGAGGGAGCAGGAGCCCCATCACGGGGGTCCCCCAAGTGGGGGCTTGGCCCTCCCCTCCTCTCAGGAAAGCCTGGTGCAGGGAAGCTTCTCCCTGGGCAAGGACTGGCTGGCACCAGGCCCTGCAGTGCCACTTCCTACCCCCAAATGGGGCAGGCAAGAGAGAGGGCACAGGAGAGGCCAGGGCGGGCAGGGGCTTCCAGAGTCAAGCAGCAGGAACTTTTCAGAGAGAAGCTTTGAAGTGCATTTGCATCCTGTGAGCCCATTTCACAGCGTGAGTAAGCAGTGGTGGTAAAGATGTCACGTGGTGAGTGTCAGGTGGAATAAGCCGTGCGGCCTCTGCCAGTAAGGAGCGGCCCCTCCCCTGCCCCATCAGGCATGCCCAGGCACCATGCCTGCCTCTGCATCCACCCAGCCCCCCTATCTGGGGGTGGGGTCTCAAGGACAATGGGCCATGCACCCACCTGCCAGCCCCCAGGCTGGAGAACCAAGAGAGAAACATGAGGAAAGGCTGAAGCGTCCTTGAGGTCAGCAGGTGGGCACCCCCCACGGCAGCCTTGGGGCCCAAGGAGGCGCATGCACCGCTCACCCCTGCCACCCACCAACTGCACTTGTCTTATTGATTTTAATTATATAAATCACTTTATTGATTTTAATTCTGATCATTCACCGAACGCACGTCCCTTGTCAGAATGTCCAAAAGGTGCAGGAAGAAAGGCAGGCTCTTCCTCCAGAGCCTGAAGCCCTGCACTAGGCGTGCGGTGCCTCAGGAGCAGGAGCCTCACGGCCCCCAACAGAAATTCTGATGCCCAGGGAGACCCCTGTGAGTGCCCCTGACGTCTAGGGGGCACCTCTGGCCCACCCTTCGAAGGAGGCGTGTGATGGGAAAGGCAGCTGGTGTGGATGCCCTGGGACACCGCACGTGCTCAGAAACGCGGCGGGAAGGTCAAAGTCTCAGAGCAAGCGGCTGGGCTGCTGACCTAGGAGTGTGCTCCCCTGGCTTGAGGTTGGGCGTCCTCACCGGTCACTCTAGGGGCCTGACCAGGTCTGAGGAAGCCCCTCCCAGCTACTTACTGAAGTAGAAGCCGCGGTCCCCACAGACGAACTGGAGGGTGTCCACCAGCTCCCCGCCGCACAGGGTCTCACTGGGGCGGTAAGCAGCAATGCAGCACGAGGCGAAGGCCAAGAAGGTGAGAAGCACCAGCATCGACTTCCCCATTGGGATTCCCATTGGTGTCTGGGGGCGGGAGAGAAGTGGCGTGAGCGGGGCAGCCAGGCCAAGCCCCAGGCCAGAGGTGCCCCTCCCAAACCAAATTTGCCAACCTACAAATTCAGTTGAAAATTGAAAGCACGGCTTTCCTATAAACATTATTTTTATTACAAAAGTAACACACAGGTCATAATGCCGAGGTGAGGGCGCAGGGCCATGTGCAGAATGAAGCGTCCAGAAGCACACAGAAAAGGCCCAGTTCCTTCCATTTGCAAGAAGCACTAGTAATTTTACACGAGGGGTGACCATCTCCACGGTCATTATTGCAGGAGCTCAGCGGCATCCACAGCTGCAGGGGCCCAGGCTGGACACCCGACCTGGCCTCCGTCCTATGACACCATGGGGGCAGGGCCAGCCCAGCGTCACATCGCCACTTCTCAGGCCTCCAGCGCCAGCCAAGATGGCAGACAGCCCCACCCCTACAGAGCATGTGCATCCAGGAGGACCAGTCCCTTCCTCCCCACAACCCCCAGCTGAGCAGGGGGGGTCCAGGAGGACCATCGCCCTCAAAGCAGCAGGCCAGTCCTGCTGGGCCAGCCCCGCCCCTCCCCCTGGCTTTTCCACCTTTCCAGTCTGCAGCTGAGCCAGGCCTGGGTCAAGGACTCCAATGGTTAACACAACCACGCCACCCATGCTCTAGAAACCTTGTTTTCCCAGTCACCCAGTTCTCCAACTCCAGTCTGCCTTGGGTACCCCCAAACACACACACACACGCCCAGAGCCTCCTTTCCAGGCCTCAAATCGAACCAGTAAGGCCAGGGGCCTCCAGAACATCTCCCTATTTGCGCTACCAAACTCTCCCCGTGGGAGCTGGAGAGACCAGCTCAGGCCACCTGGGAAGTCCGACACCAGGTTCCCCAGACTACAATCTGGAAGGGGAGGCCAGTCTTAGGACACACCCCCTCCACAGGCTGCAGGGCCACAGGGCCGGGTTAACCCACTCGGGGGTGGGAGGCCGGGAGCCACCACAGCAAGTTGGCCCTGCCCCTGCAGAAGGTGGAACCCTCCAGGCGGGCAGCCCCAGCCTTCGCTCCGCAGACCCAGGGGAGTTTTTGATGCAATAAATTATGTGAGCGACTGAGCAGGCAGTGGGACAGAAGCACAACTTTGCATGCCCTCTCTAAAGACTAGTGGGCAGCTGCGCCGAGGATCTGAAAGCCTCCTTGGTCATCTCCTTGACTGGACCCTGGCCAGTCCTCTCACCGCCCCCTCTGCCACCCCCTTCCAAATTCTAAGAGCACACTCCGCCAGCTGGCCACTCTAGCCCTCGCCGCGCTTCCGCAACAAGCCCCACCACTCTGAACTTGGAGGTCCGGGTCAGGGGACCGGCAGAAAGCAGGACAGGAAGCATGCAGCGGTGCGGAGCAGGTGAGGGCCCAGGAAAAGTCCTGAGCTGGGCAAGGAGGGGGCCGAAGGGAAGGAACAGAAAGGGAAGGAGCAGGTGAGGGAGCAGAGACCAGGTGGGGGCAGGGGCAGAGGAAAAGAGGGGAGGGGGGTGCTGTCCGAGAGGCAGCGGGCTGGCGGCTGCAGGGCCCGAGGCCCAGGCGTGGGCCGTGCCCCCTGCTGCCCTGCCTCAGGCTGGAGTGGGATGGCAGCGGGGGTCCTCACTCCACAGCCCTGGTTACCTACAGCTCAGCAGAAGGCTCGCTGGGGCAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGCTGGAAGTCTCTTTCACAGGAGAAGCTAATGTCCAGTTTGCAGGCTGGTCAGTGCCTCAGCTTTTATGTGTGAGCCGACTCCTCCCAGCCCGGGCTCCACCCTACCCCCCACCCCTCTCCCTGCTGACCACTCCCCCGCGCCTTTGCTCCCGCCCTCTCCCTCCTCCCAGCCAGTCTCTTCTCTCCTGCACCCCCAACCGGGAGCCCTGGACCATCCCGTA
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TGCTCCCGGGCCACACAGCAAGCAAGGAAGTCACGGGTCCTTGTCCCTGGCCAAGAGGTCCCAGAGGCCACAGGAAACGCTGGGCGCCCGAAGCCCTATTTCTCTGTCTCTAGAGAGTGGGAAAGGGGCCCAGGACCCTCACCGGAAGCACGGTCGGAGGGGTCGACACGTCCCTCTCGGACTTGGCGGGGGTAGCACAGTACGTCTCCAGGAGGGCCAGGTCACAGCTGCGGAAACAGCACTCCTCAACGATGCCACGGCTGCGACGGCTCACACGGCTTGCGGGCCTGCCTGGAAGTCCCACAGCACAGAGAGAGCCGTGTTAGCACCGCACTGACCCCAGCCCCCGGAGGCTGAAGGGGGAGCAAACCACCCCTGCCCTCAGGCCAGGCCCTGGAAGGACGCAGCCACCCTGCGGGTCAGGGGAGGGAAGTGAGAGCTGGCAGGCAGAGGCGTCCCAGGAAGAAGAGAGGTGAGAGGGGAGGTGAGTGGGACCCAGACCAGCCCGTGGCCTCTGCTGCCTCCTTCCTCAGATGAAAAATGGGCACAAGCTCTTGGTCCCACAACCAGAGGGACACCACCAGGACCAAAGGCTCACAATGGGAGTGGTTTGGAAAATGTGTGGGATGTGAGCCCAGTTCAGGGGCCCCCACAGGAGGGACTGCTGTCCCTGAGCTTGGACTCTGGCCTGGCACCACCTAGGAGGCTGGAGGGGCCCACACCACCCCTGGAGCTGCTGAGACAGGGAGACAAGGGCAGGAGAGGAGAAGACGGGAGGAGAGGAGTGAGGAGGCGTGATGGAACCACTCCCTTCTTTCCTCCCGTCTTCCCCCTCTCCCCCACAGCAATGCTCAGCTGGAAGGGGAAGGTCGCTGGGGGCTCCACCTTGGGGTGCCAAAGGGCAGGTGCCATCAGCCGGAGGAGGGAGCAGGAGCCCCATCACGGGGGTCCCCCAAGTGGGGGCTTGGCCCTCCCCTCCTCTCAGGAAAGCCTGGTGCAGGGAAGCTTCTCCCTGGGCAAGGACTGGCTGGCACCAGGCCCTGCAGTGCCACTTCCTACCCCCAAATGGGGCAGGCAAGAGAGAGGGCACAGGAGAGGCCAGGGCGGGCAGGGGCTTCCAGAGTCAAGCAGCAGGAACTTTTCAGAGAGAAGCTTTGAAGTGCATTTGCATCCTGTGAGCCCATTTCACAGCGTGAGTAAGCAGTGGTGGTAAAGATGTCACGTGGTGAGTGTCAGGTGGAATAAGCCGTGCGGCCTCTGCCAGTAAGGAGCGGCCCCTCCCCTGCCCCATCAGGCATGCCCAGGCACCATGCCTGCCTCTGCATCCACCCAGCCCCCCTATCTGGGGGTGGGGTCTCAAGGACAATGGGCCATGCACCCACCTGCCAGCCCCCAGGCTGGAGAACCAAGAGAGAAACATGAGGAAAGGCTGAAGCGTCCTTGAGGTCAGCAGGTGGGCACCCCCCACGGCAGCCTTGGGGCCCAAGGAGGCGCATGCACCGCTCACCCCTGCCACCCACCAACTGCACTTGTCTTATTGATTTTAATTATATAAATCACTTTATTGATTTTAATTCTGATCATTCACCGAACGCACGTCCCTTGTCAGAATGTCCAAAAGGTGCAGGAAGAAAGGCAGGCTCTTCCTCCAGAGCCTGAAGCCCTGCACTAGGCGTGCGGTGCCTCAGGAGCAGGAGCCTCACGGCCCCCAACAGAAATTCTGATGCCCAGGGAGACCCCTGTGAGTGCCCCTGACGTCTAGGGGGCACCTCTGGCCCACCCTTCGAAGGAGGCGTGTGATGGGAAAGGCAGCTGGTGTGGATGCCCTGGGACACCGCACGTGCTCAGAAACGCGGCGGGAAGGTCAAAGTCTCAGAGCAAGCGGCTGGGCTGCTGACCTAGGAGTGTGCTCCCCTGGCTTGAGGTTGGGCGTCCTCACCGGTCACTCTAGGGGCCTGACCAGGTCTGAGGAAGCCCCTCCCAGCTACTTACTGAAGTAGAAGCCGCGGTCCCCACAGACGAACTGGAGGGTGTCCACCAGCTCCCCGTCGCACAGGGTCTCACTGGGGCGGTAAGCAGCAATGCAGCACGAGGCGAAGGCCAAGAAGGTGAGAAGCACCAGCATCGACTTCCCCATTGGGATTCCCATTGGTGTCTGGGGGCGGGAGAGAAGTGGCGTGAGCGGGGCAGCCAGGCCAAGCCCCAGGCCAGAGGTGCCCCTCCCAAACCAAATTTGCCAACCTACAAATTCAGTTGAAAATTGAAAGCACGGCTTTCCTATAAACATTATTTTTATTACAAAAGTAACACACAGGTCATAATGCCGAGGTGAGGGCGCAGGGCCATGTGCAGAATGAAGCGTCCAGAAGCACACAGAAAAGGCCCAGTTCCTTCCATTTGCAAGAAGCACTAGTAATTTTACACGAGGGGTGACCATCTCCACGGTCATTATTGCAGGAGCTCAGCGGCATCCACAGCTGCAGGGGCCCAGGCTGGACACCCGACCTGGCCTCCGTCCTATGACACCATGGGGGCAGGGCCAGCCCAGCGTCACATCGCCACTTCTCAGGCCTCCAGCGCCAGCCAAGATGGCAGACAGCCCCACCCCTACAGAGCATGTGCATCCAGGAGGACCAGTCCCTTCCTCCCCACAACCCCCAGCTGAGCAGGGGGGGTCCAGGAGGACCATCGCCCTCAAAGCAGCAGGCCAGTCCTGCTGGGCCAGCCCCGCCCCTCCCCCTGGCTTTTCCACCTTTCCAGTCTGCAGCTGAGCCAGGCCTGGGTCAAGGACTCCAATGGTTAACACAACCACGCCACCCATGCTCTAGAAACCTTGTTTTCCCAGTCACCCAGTTCTCCAACTCCAGTCTGCCTTGGGTACCCCCAAACACACACACACACGCCCAGAGCCTCCTTTCCAGGCCTCAAATCGAACCAGTAAGGCCAGGGGCCTCCAGAACATCTCCCTATTTGCGCTACCAAACTCTCCCCGTGGGAGCTGGAGAGACCAGCTCAGGCCACCTGGGAAGTCCGACACCAGGTTCCCCAGACTACAATCTGGAAGGGGAGGCCAGTCTTAGGACACACCCCCTCCACAGGCTGCAGGGCCACAGGGCCGGGTTAACCCACTCGGGGGTGGGAGGCCGGGAGCCACCACAGCAAGTTGGCCCTGCCCCTGCAGAAGGTGGAACCCTCCAGGCGGGCAGCCCCAGCCTTCGCTCCGCAGACCCAGGGGAGTTTTTGATGCAATAAATTATGTGAGCGACTGAGCAGGCAGTGGGACAGAAGCACAACTTTGCATGCCCTCTCTAAAGACTAGTGGGCAGCTGCGCCGAGGATCTGAAAGCCTCCTTGGTCATCTCCTTGACTGGACCCTGGCCAGTCCTCTCACCGCCCCCTCTGCCACCCCCTTCCAAATTCTAAGAGCACACTCCGCCAGCTGGCCACTCTAGCCCTCGCCGCGCTTCCGCAACAAGCCCCACCACTCTGAACTTGGAGGTCCGGGTCAGGGGACCGGCAGAAAGCAGGACAGGAAGCATGCAGCGGTGCGGAGCAGGTGAGGGCCCAGGAAAAGTCCTGAGCTGGGCAAGGAGGGGGCCGAAGGGAAGGAACAGAAAGGGAAGGAGCAGGTGAGGGAGCAGAGACCAGGTGGGGGCAGGGGCAGAGGAAAAGAGGGGAGGGGGGTGCTGTCCGAGAGGCAGCGGGCTGGCGGCTGCAGGGCCCGAGGCCCAGGCGTGGGCCGTGCCCCCTGCTGCCCTGCCTCAGGCTGGAGTGGGATGGCAGCGGGGGTCCTCACTCCACAGCCCTGGTTACCTACAGCTCAGCAGAAGGCTCGCTGGGGCAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGCTGGAAGTCTCTTTCACAGGAGAAGCTAATGTCCAGTTTGCAGGCTGGTCAGTGCCTCAGCTTTTATGTGTGAGCCGACTCCTCCCAGCCCGGGCTCCACCCTACCCCCCACCCCTCTCCCTGCTGACCACTCCCCCGCGCCTTTGCTCCCGCCCTCTCCCTCCTCCCAGCCAGTCTCTTCTCTCCTGCACCCCCAACCGGGAGCCCTGGACCATCCCGTA
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Task1_train_14839
|
A mutation found in IGF2, INS-IGF2 (insulin like growth factor 2| INS-IGF2 readthrough) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Inborn genetic diseases
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GCTCCCGGGCCACACAGCAAGCAAGGAAGTCACGGGTCCTTGTCCCTGGCCAAGAGGTCCCAGAGGCCACAGGAAACGCTGGGCGCCCGAAGCCCTATTTCTCTGTCTCTAGAGAGTGGGAAAGGGGCCCAGGACCCTCACCGGAAGCACGGTCGGAGGGGTCGACACGTCCCTCTCGGACTTGGCGGGGGTAGCACAGTACGTCTCCAGGAGGGCCAGGTCACAGCTGCGGAAACAGCACTCCTCAACGATGCCACGGCTGCGACGGCTCACACGGCTTGCGGGCCTGCCTGGAAGTCCCACAGCACAGAGAGAGCCGTGTTAGCACCGCACTGACCCCAGCCCCCGGAGGCTGAAGGGGGAGCAAACCACCCCTGCCCTCAGGCCAGGCCCTGGAAGGACGCAGCCACCCTGCGGGTCAGGGGAGGGAAGTGAGAGCTGGCAGGCAGAGGCGTCCCAGGAAGAAGAGAGGTGAGAGGGGAGGTGAGTGGGACCCAGACCAGCCCGTGGCCTCTGCTGCCTCCTTCCTCAGATGAAAAATGGGCACAAGCTCTTGGTCCCACAACCAGAGGGACACCACCAGGACCAAAGGCTCACAATGGGAGTGGTTTGGAAAATGTGTGGGATGTGAGCCCAGTTCAGGGGCCCCCACAGGAGGGACTGCTGTCCCTGAGCTTGGACTCTGGCCTGGCACCACCTAGGAGGCTGGAGGGGCCCACACCACCCCTGGAGCTGCTGAGACAGGGAGACAAGGGCAGGAGAGGAGAAGACGGGAGGAGAGGAGTGAGGAGGCGTGATGGAACCACTCCCTTCTTTCCTCCCGTCTTCCCCCTCTCCCCCACAGCAATGCTCAGCTGGAAGGGGAAGGTCGCTGGGGGCTCCACCTTGGGGTGCCAAAGGGCAGGTGCCATCAGCCGGAGGAGGGAGCAGGAGCCCCATCACGGGGGTCCCCCAAGTGGGGGCTTGGCCCTCCCCTCCTCTCAGGAAAGCCTGGTGCAGGGAAGCTTCTCCCTGGGCAAGGACTGGCTGGCACCAGGCCCTGCAGTGCCACTTCCTACCCCCAAATGGGGCAGGCAAGAGAGAGGGCACAGGAGAGGCCAGGGCGGGCAGGGGCTTCCAGAGTCAAGCAGCAGGAACTTTTCAGAGAGAAGCTTTGAAGTGCATTTGCATCCTGTGAGCCCATTTCACAGCGTGAGTAAGCAGTGGTGGTAAAGATGTCACGTGGTGAGTGTCAGGTGGAATAAGCCGTGCGGCCTCTGCCAGTAAGGAGCGGCCCCTCCCCTGCCCCATCAGGCATGCCCAGGCACCATGCCTGCCTCTGCATCCACCCAGCCCCCCTATCTGGGGGTGGGGTCTCAAGGACAATGGGCCATGCACCCACCTGCCAGCCCCCAGGCTGGAGAACCAAGAGAGAAACATGAGGAAAGGCTGAAGCGTCCTTGAGGTCAGCAGGTGGGCACCCCCCACGGCAGCCTTGGGGCCCAAGGAGGCGCATGCACCGCTCACCCCTGCCACCCACCAACTGCACTTGTCTTATTGATTTTAATTATATAAATCACTTTATTGATTTTAATTCTGATCATTCACCGAACGCACGTCCCTTGTCAGAATGTCCAAAAGGTGCAGGAAGAAAGGCAGGCTCTTCCTCCAGAGCCTGAAGCCCTGCACTAGGCGTGCGGTGCCTCAGGAGCAGGAGCCTCACGGCCCCCAACAGAAATTCTGATGCCCAGGGAGACCCCTGTGAGTGCCCCTGACGTCTAGGGGGCACCTCTGGCCCACCCTTCGAAGGAGGCGTGTGATGGGAAAGGCAGCTGGTGTGGATGCCCTGGGACACCGCACGTGCTCAGAAACGCGGCGGGAAGGTCAAAGTCTCAGAGCAAGCGGCTGGGCTGCTGACCTAGGAGTGTGCTCCCCTGGCTTGAGGTTGGGCGTCCTCACCGGTCACTCTAGGGGCCTGACCAGGTCTGAGGAAGCCCCTCCCAGCTACTTACTGAAGTAGAAGCCGCGGTCCCCACAGACGAACTGGAGGGTGTCCACCAGCTCCCCGCCGCACAGGGTCTCACTGGGGCGGTAAGCAGCAATGCAGCACGAGGCGAAGGCCAAGAAGGTGAGAAGCACCAGCATCGACTTCCCCATTGGGATTCCCATTGGTGTCTGGGGGCGGGAGAGAAGTGGCGTGAGCGGGGCAGCCAGGCCAAGCCCCAGGCCAGAGGTGCCCCTCCCAAACCAAATTTGCCAACCTACAAATTCAGTTGAAAATTGAAAGCACGGCTTTCCTATAAACATTATTTTTATTACAAAAGTAACACACAGGTCATAATGCCGAGGTGAGGGCGCAGGGCCATGTGCAGAATGAAGCGTCCAGAAGCACACAGAAAAGGCCCAGTTCCTTCCATTTGCAAGAAGCACTAGTAATTTTACACGAGGGGTGACCATCTCCACGGTCATTATTGCAGGAGCTCAGCGGCATCCACAGCTGCAGGGGCCCAGGCTGGACACCCGACCTGGCCTCCGTCCTATGACACCATGGGGGCAGGGCCAGCCCAGCGTCACATCGCCACTTCTCAGGCCTCCAGCGCCAGCCAAGATGGCAGACAGCCCCACCCCTACAGAGCATGTGCATCCAGGAGGACCAGTCCCTTCCTCCCCACAACCCCCAGCTGAGCAGGGGGGGTCCAGGAGGACCATCGCCCTCAAAGCAGCAGGCCAGTCCTGCTGGGCCAGCCCCGCCCCTCCCCCTGGCTTTTCCACCTTTCCAGTCTGCAGCTGAGCCAGGCCTGGGTCAAGGACTCCAATGGTTAACACAACCACGCCACCCATGCTCTAGAAACCTTGTTTTCCCAGTCACCCAGTTCTCCAACTCCAGTCTGCCTTGGGTACCCCCAAACACACACACACACGCCCAGAGCCTCCTTTCCAGGCCTCAAATCGAACCAGTAAGGCCAGGGGCCTCCAGAACATCTCCCTATTTGCGCTACCAAACTCTCCCCGTGGGAGCTGGAGAGACCAGCTCAGGCCACCTGGGAAGTCCGACACCAGGTTCCCCAGACTACAATCTGGAAGGGGAGGCCAGTCTTAGGACACACCCCCTCCACAGGCTGCAGGGCCACAGGGCCGGGTTAACCCACTCGGGGGTGGGAGGCCGGGAGCCACCACAGCAAGTTGGCCCTGCCCCTGCAGAAGGTGGAACCCTCCAGGCGGGCAGCCCCAGCCTTCGCTCCGCAGACCCAGGGGAGTTTTTGATGCAATAAATTATGTGAGCGACTGAGCAGGCAGTGGGACAGAAGCACAACTTTGCATGCCCTCTCTAAAGACTAGTGGGCAGCTGCGCCGAGGATCTGAAAGCCTCCTTGGTCATCTCCTTGACTGGACCCTGGCCAGTCCTCTCACCGCCCCCTCTGCCACCCCCTTCCAAATTCTAAGAGCACACTCCGCCAGCTGGCCACTCTAGCCCTCGCCGCGCTTCCGCAACAAGCCCCACCACTCTGAACTTGGAGGTCCGGGTCAGGGGACCGGCAGAAAGCAGGACAGGAAGCATGCAGCGGTGCGGAGCAGGTGAGGGCCCAGGAAAAGTCCTGAGCTGGGCAAGGAGGGGGCCGAAGGGAAGGAACAGAAAGGGAAGGAGCAGGTGAGGGAGCAGAGACCAGGTGGGGGCAGGGGCAGAGGAAAAGAGGGGAGGGGGGTGCTGTCCGAGAGGCAGCGGGCTGGCGGCTGCAGGGCCCGAGGCCCAGGCGTGGGCCGTGCCCCCTGCTGCCCTGCCTCAGGCTGGAGTGGGATGGCAGCGGGGGTCCTCACTCCACAGCCCTGGTTACCTACAGCTCAGCAGAAGGCTCGCTGGGGCAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGCTGGAAGTCTCTTTCACAGGAGAAGCTAATGTCCAGTTTGCAGGCTGGTCAGTGCCTCAGCTTTTATGTGTGAGCCGACTCCTCCCAGCCCGGGCTCCACCCTACCCCCCACCCCTCTCCCTGCTGACCACTCCCCCGCGCCTTTGCTCCCGCCCTCTCCCTCCTCCCAGCCAGTCTCTTCTCTCCTGCACCCCCAACCGGGAGCCCTGGACCATCCCGTAG
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GCTCCCGGGCCACACAGCAAGCAAGGAAGTCACGGGTCCTTGTCCCTGGCCAAGAGGTCCCAGAGGCCACAGGAAACGCTGGGCGCCCGAAGCCCTATTTCTCTGTCTCTAGAGAGTGGGAAAGGGGCCCAGGACCCTCACCGGAAGCACGGTCGGAGGGGTCGACACGTCCCTCTCGGACTTGGCGGGGGTAGCACAGTACGTCTCCAGGAGGGCCAGGTCACAGCTGCGGAAACAGCACTCCTCAACGATGCCACGGCTGCGACGGCTCACACGGCTTGCGGGCCTGCCTGGAAGTCCCACAGCACAGAGAGAGCCGTGTTAGCACCGCACTGACCCCAGCCCCCGGAGGCTGAAGGGGGAGCAAACCACCCCTGCCCTCAGGCCAGGCCCTGGAAGGACGCAGCCACCCTGCGGGTCAGGGGAGGGAAGTGAGAGCTGGCAGGCAGAGGCGTCCCAGGAAGAAGAGAGGTGAGAGGGGAGGTGAGTGGGACCCAGACCAGCCCGTGGCCTCTGCTGCCTCCTTCCTCAGATGAAAAATGGGCACAAGCTCTTGGTCCCACAACCAGAGGGACACCACCAGGACCAAAGGCTCACAATGGGAGTGGTTTGGAAAATGTGTGGGATGTGAGCCCAGTTCAGGGGCCCCCACAGGAGGGACTGCTGTCCCTGAGCTTGGACTCTGGCCTGGCACCACCTAGGAGGCTGGAGGGGCCCACACCACCCCTGGAGCTGCTGAGACAGGGAGACAAGGGCAGGAGAGGAGAAGACGGGAGGAGAGGAGTGAGGAGGCGTGATGGAACCACTCCCTTCTTTCCTCCCGTCTTCCCCCTCTCCCCCACAGCAATGCTCAGCTGGAAGGGGAAGGTCGCTGGGGGCTCCACCTTGGGGTGCCAAAGGGCAGGTGCCATCAGCCGGAGGAGGGAGCAGGAGCCCCATCACGGGGGTCCCCCAAGTGGGGGCTTGGCCCTCCCCTCCTCTCAGGAAAGCCTGGTGCAGGGAAGCTTCTCCCTGGGCAAGGACTGGCTGGCACCAGGCCCTGCAGTGCCACTTCCTACCCCCAAATGGGGCAGGCAAGAGAGAGGGCACAGGAGAGGCCAGGGCGGGCAGGGGCTTCCAGAGTCAAGCAGCAGGAACTTTTCAGAGAGAAGCTTTGAAGTGCATTTGCATCCTGTGAGCCCATTTCACAGCGTGAGTAAGCAGTGGTGGTAAAGATGTCACGTGGTGAGTGTCAGGTGGAATAAGCCGTGCGGCCTCTGCCAGTAAGGAGCGGCCCCTCCCCTGCCCCATCAGGCATGCCCAGGCACCATGCCTGCCTCTGCATCCACCCAGCCCCCCTATCTGGGGGTGGGGTCTCAAGGACAATGGGCCATGCACCCACCTGCCAGCCCCCAGGCTGGAGAACCAAGAGAGAAACATGAGGAAAGGCTGAAGCGTCCTTGAGGTCAGCAGGTGGGCACCCCCCACGGCAGCCTTGGGGCCCAAGGAGGCGCATGCACCGCTCACCCCTGCCACCCACCAACTGCACTTGTCTTATTGATTTTAATTATATAAATCACTTTATTGATTTTAATTCTGATCATTCACCGAACGCACGTCCCTTGTCAGAATGTCCAAAAGGTGCAGGAAGAAAGGCAGGCTCTTCCTCCAGAGCCTGAAGCCCTGCACTAGGCGTGCGGTGCCTCAGGAGCAGGAGCCTCACGGCCCCCAACAGAAATTCTGATGCCCAGGGAGACCCCTGTGAGTGCCCCTGACGTCTAGGGGGCACCTCTGGCCCACCCTTCGAAGGAGGCGTGTGATGGGAAAGGCAGCTGGTGTGGATGCCCTGGGACACCGCACGTGCTCAGAAACGCGGCGGGAAGGTCAAAGTCTCAGAGCAAGCGGCTGGGCTGCTGACCTAGGAGTGTGCTCCCCTGGCTTGAGGTTGGGCGTCCTCACCGGTCACTCTAGGGGCCTGACCAGGTCTGAGGAAGCCCCTCCCAGCTACTTACTGAAGTAGAAGCCGCGGTCCCCACAGACGAACTGGAGGGTGTCCACCAGCTCCCCGCGGCACAGGGTCTCACTGGGGCGGTAAGCAGCAATGCAGCACGAGGCGAAGGCCAAGAAGGTGAGAAGCACCAGCATCGACTTCCCCATTGGGATTCCCATTGGTGTCTGGGGGCGGGAGAGAAGTGGCGTGAGCGGGGCAGCCAGGCCAAGCCCCAGGCCAGAGGTGCCCCTCCCAAACCAAATTTGCCAACCTACAAATTCAGTTGAAAATTGAAAGCACGGCTTTCCTATAAACATTATTTTTATTACAAAAGTAACACACAGGTCATAATGCCGAGGTGAGGGCGCAGGGCCATGTGCAGAATGAAGCGTCCAGAAGCACACAGAAAAGGCCCAGTTCCTTCCATTTGCAAGAAGCACTAGTAATTTTACACGAGGGGTGACCATCTCCACGGTCATTATTGCAGGAGCTCAGCGGCATCCACAGCTGCAGGGGCCCAGGCTGGACACCCGACCTGGCCTCCGTCCTATGACACCATGGGGGCAGGGCCAGCCCAGCGTCACATCGCCACTTCTCAGGCCTCCAGCGCCAGCCAAGATGGCAGACAGCCCCACCCCTACAGAGCATGTGCATCCAGGAGGACCAGTCCCTTCCTCCCCACAACCCCCAGCTGAGCAGGGGGGGTCCAGGAGGACCATCGCCCTCAAAGCAGCAGGCCAGTCCTGCTGGGCCAGCCCCGCCCCTCCCCCTGGCTTTTCCACCTTTCCAGTCTGCAGCTGAGCCAGGCCTGGGTCAAGGACTCCAATGGTTAACACAACCACGCCACCCATGCTCTAGAAACCTTGTTTTCCCAGTCACCCAGTTCTCCAACTCCAGTCTGCCTTGGGTACCCCCAAACACACACACACACGCCCAGAGCCTCCTTTCCAGGCCTCAAATCGAACCAGTAAGGCCAGGGGCCTCCAGAACATCTCCCTATTTGCGCTACCAAACTCTCCCCGTGGGAGCTGGAGAGACCAGCTCAGGCCACCTGGGAAGTCCGACACCAGGTTCCCCAGACTACAATCTGGAAGGGGAGGCCAGTCTTAGGACACACCCCCTCCACAGGCTGCAGGGCCACAGGGCCGGGTTAACCCACTCGGGGGTGGGAGGCCGGGAGCCACCACAGCAAGTTGGCCCTGCCCCTGCAGAAGGTGGAACCCTCCAGGCGGGCAGCCCCAGCCTTCGCTCCGCAGACCCAGGGGAGTTTTTGATGCAATAAATTATGTGAGCGACTGAGCAGGCAGTGGGACAGAAGCACAACTTTGCATGCCCTCTCTAAAGACTAGTGGGCAGCTGCGCCGAGGATCTGAAAGCCTCCTTGGTCATCTCCTTGACTGGACCCTGGCCAGTCCTCTCACCGCCCCCTCTGCCACCCCCTTCCAAATTCTAAGAGCACACTCCGCCAGCTGGCCACTCTAGCCCTCGCCGCGCTTCCGCAACAAGCCCCACCACTCTGAACTTGGAGGTCCGGGTCAGGGGACCGGCAGAAAGCAGGACAGGAAGCATGCAGCGGTGCGGAGCAGGTGAGGGCCCAGGAAAAGTCCTGAGCTGGGCAAGGAGGGGGCCGAAGGGAAGGAACAGAAAGGGAAGGAGCAGGTGAGGGAGCAGAGACCAGGTGGGGGCAGGGGCAGAGGAAAAGAGGGGAGGGGGGTGCTGTCCGAGAGGCAGCGGGCTGGCGGCTGCAGGGCCCGAGGCCCAGGCGTGGGCCGTGCCCCCTGCTGCCCTGCCTCAGGCTGGAGTGGGATGGCAGCGGGGGTCCTCACTCCACAGCCCTGGTTACCTACAGCTCAGCAGAAGGCTCGCTGGGGCAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGCTGGAAGTCTCTTTCACAGGAGAAGCTAATGTCCAGTTTGCAGGCTGGTCAGTGCCTCAGCTTTTATGTGTGAGCCGACTCCTCCCAGCCCGGGCTCCACCCTACCCCCCACCCCTCTCCCTGCTGACCACTCCCCCGCGCCTTTGCTCCCGCCCTCTCCCTCCTCCCAGCCAGTCTCTTCTCTCCTGCACCCCCAACCGGGAGCCCTGGACCATCCCGTAG
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Task1_train_14840
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A change on Chromosome 11 affects gene INS-IGF2, INS (INS-IGF2 readthrough| insulin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Diabetes mellitus, permanent neonatal 4
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ATGGCTGCATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCC
|
ATGGCTGCATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCAAAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCC
|
Task1_train_14841
|
This variant impacts the gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Hyperproinsulinemia
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCAAGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
|
Task1_train_14842
|
This sequence change occurs on Chromosome 11, altering INS, INS-IGF2 (insulin| INS-IGF2 readthrough). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Hyperproinsulinemia
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCAGGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
|
Task1_train_14843
|
An alteration has been detected in INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Hyperproinsulinemia
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCATGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
|
Task1_train_14844
|
This alteration occurs within gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; INS-related disorder
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCATGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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Task1_train_14845
|
Mutation context: Chromosome 11, Gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Diabetes mellitus, permanent neonatal 4
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCATGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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Task1_train_14846
|
Here’s a variant in INS, INS-IGF2 (insulin| INS-IGF2 readthrough) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Hyperproinsulinemia
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ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCATGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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Task1_train_14847
|
This alteration in INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Type 1 diabetes mellitus 2
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCATGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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Task1_train_14848
|
Here’s a variant in INS, INS-IGF2 (insulin| INS-IGF2 readthrough) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Maturity-onset diabetes of the young type 10
|
ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCGATGGCTGACTGGTGGGCAGCCTCCCAGCCGGCCCACCGGGCCCCGCTTTGGCCCAGCCCCGCGCGAGCTCACATACCTCAGCTCCAGCAGGGCGCCCCTGTCTCTACCCGTGCGAGTGGGGCCGGCTGGGTGTTCCCATGGACGGCTGCTGCCGATCCCAGCCACCGCCTCCCTCCTCTTCCGGGGCCAGTGTCCGGCCGTCCACCCGCCTGCCCAGCCTTGGCCCCCACTCTGGAGGCGGGGCTAGCTGGGGGCTGTGACATCTCTGGGTGGAGGGGGGCTGATGTGGTCATGGGGAAGGGGTGAGCTCAGAGCTTCAGGAACAGGGCTGCCCCAGTGGCCAGGTCCCCAGCTGGAGGGTGAGCTCCTGGCCTCGAGGCCCAAGCTGGCAGTGGTCTGCAGCCACAGCCCATGCCAGCCCCAGGCCCAGCCATCCCCAGCCCAGCCCTGGGTGGAGCTCTCAGGAAAGGTGCAGATTGGTTTGGCCTGGGTGGCAGGCAGACTGGCCCAGCCACAGGGTAGCTAGGGTCACCCGCTGACCTCCCAGGCCACAGTAGGCCCAGGCAGCCCCTAGGTTCTCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCATGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACC
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Task1_train_14849
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A mutation on Chromosome 11 affecting INS, INS-IGF2 (insulin| INS-IGF2 readthrough) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Maturity-onset diabetes of the young type 10
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TCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGG
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TCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGAGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGG
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Task1_train_14850
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A variant has been detected on Chromosome 11 in INS-IGF2, INS (INS-IGF2 readthrough| insulin). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Hyperproinsulinemia
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CCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGG
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CCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTACAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGG
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Task1_train_14851
|
Given this variant in gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Hyperproinsulinemia
|
TAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGG
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TAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGGAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGG
|
Task1_train_14852
|
This variant lies on Chromosome 11 and affects the gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Type 2 diabetes mellitus
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CGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGGAGCCCAGGTAGGAGGG
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CGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCCCACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGGAGCCCAGGTAGGAGGG
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Task1_train_14853
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Gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hyperproinsulinemia
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GCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGGAGCCCAGGTAGGAGGGCAGAGCCAGGCGCTGGCAGGGCCGGGG
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GCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTCTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGGAGCCCAGGTAGGAGGGCAGAGCCAGGCGCTGGCAGGGCCGGGG
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Task1_train_14854
|
Given this variant in gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Diabetes mellitus, permanent neonatal 4
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AGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGGAGCCCAGGTAGGAGGGCAGAGCCAGGCGCTGGCAGGGCCGGGGGGAGGCAAGGCAGGCACTTCCCCAGGGCT
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AGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGTCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGGAGCCCAGGTAGGAGGGCAGAGCCAGGCGCTGGCAGGGCCGGGGGGAGGCAAGGCAGGCACTTCCCCAGGGCT
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Task1_train_14855
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This mutation is located in gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Maturity-onset diabetes of the young type 10
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GCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCGCATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGGAGCCCAGGTAGGAGGGCAGAGCCAGGCGCTGGCAGGGCCGGGGGGAGGCAAGGCAGGCACTTCCCCAGGGCTTCCTGGGGGCTCACAGCCCTTCAGAGACACCCCCAGCTGCAACCTCAGGGGCTGG
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GCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCAGACGGCTGCCAGCTTGGGCCGCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCAGCTGGTAGAGGGAGCAGATGCTGGTACAGCATTGTTCCACAATGCCACGCTTCTGCAGGGACCCCTCCAGGGCCAAGGGCTGCAGGCTGCCTGCACCAGGGCCCCCGCCCAGCTCCACCTGCCCCACTGCCAGGACGTGCCGCGCAGAGCAGGTTCCGGAACAGCGGCGAGGCAGAGGGACACAGGAGGACACAGTCAGGGAGACACAGTGCCCGCCTGCCCGCCAGCCCTAGGTCGCACTCCCACCCATCTCCAGCCGGGCTGGACCCAGGTTAGAGGGAGGGTCACCCACACTGGGTGTGGACCTACAGGCCCCAACGCCCACATGTCCCACCTCCTTCCCCCGCCCCGGGGCAGCGTCACAGTGGGAGCCTGAACAGGTGATCCCAGTACTTCTCCCCAGGGCCTGTCCCCAGCATCTTCCCCATCTCCTGACTATGGAGCTGCCGTGAGGCCTGGCGACAGGGGTCTGGCCCACTCAGGCAGGCAGCCACGCCCTCCTCCGGGCGTGATGGGGTGTTCGCCCAGAGGCAGGCAGCGTGGGGCACCCTGTGACCCCAGGTCACCCAGGACTTTACTTAACAAAACACTTGAATCTGCGGTCATCAAATGAGGGTGGAGAAATGGGCTGCGGGGCATTTGTTTGAGGGGCGAGTGGAGGGAGGAGCGTGCCCACCCTCTGATGTATCTCGGGGCTGCCGAAGCCAACACCGTCCTCAGGCTGAGATTCTGACTGGGCCACAGGGAGCTGGTCACTTTTAGGACGTGACCAAGAGAACTTCTTTTTAAAAAAGTGCACCTGACCCCCTGCTGGGTGGCAGCCTCCTGCCCCCTTCTGCCCATGCTGGGTGGGAGCGCCAGGAGCAGGGGGTGGCTGGGGGCGGCCAGGGGCAGCAATGGGCAGTTGGCTCACCCTGCAGGTCCTCTGCCTCCCGGCGGGTCTTGGGTGTGTAGAAGAAGCCTCGTTCCCCGCACACTAGGTAGAGAGCTTCCACCAGGTGTGAGCCGCACAGGTGTTGGTTCACAAAGGCTGCGGCTGGGTCAGGTCCCCAGAGGGCCAGCAGCGCCAGCAGGGGCAGGAGGCACATCCACAGGGCCATGGCAGAAGGACAGTGATCTGGGAGACAGGCAGGGCTGAGGCAGGCTGAAGGCCAGGTGCCCTGCCTTGGGGCCCCTGGGCTCACCCCCACATGCTTCACGAGCCCAGCCACGTCCTCCCTGCTGCAGAGCTGGGGCCTGGGGTCCAGCCACCCTGGAATCCTGAGCCCACCTGACGCAAAGGCCCTTGGAACAGACCTGCTTGATGGCCTCTTCTGATGCAGCCTGTCCTGGAGGGCTGAGGGCTGCTGGGCCCCCGCTGGCTTTATAGTCTCAGAGCCCATCTCCCCTACCTCTCAACCCCTGCCGCCTGGCCCATTAGGGCCTGGGGTGGGGGGGTCGGCAGATGGCTGGGGGCTGAGGCTGCAATTTCCGGACCATTTCCCTGGTGCTGGGTCTGTGGGAAGATCTCCTTGGTCGTCAGCACCTCTTCCTCAGGACCAGCGGGTCATTAGAGTCTTAACCAGGGGCCCGGTGGCCAGACCTGTCCCTGCTCACAGCTGGGGGCAAATGTCTCCAGGAGAGCAAAGCCCTCACCTGGGCCACTTTCCACATTAGACCAGGAGAGCTGGAGGCTGCAGGGCGGGGCTCTTTGCGCTGCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGTCCCGGATGGCCCAAGATGCCGCCATGGATGGGCCAAGGTGGTGGGGGTGGGAGAGTGGGAGTGAGGGAGGGGTCCCCTCCCTGCTGGCTGCCTAGTTCCCACCCTGCCTTAGGACAGCAGCCCCAGCTGAGGCCCTCAGCTCCCCAGGGTGGCAGAAGGAGGGCATGACCTGGGGACCTGGGGACAAGCAGCAAGTCCTCAGCAGGCCACTCGGACCTCATCTTCCGTGTGATCTGGGGGTGGCGGCAGGACTCTGGGGGTGGGCAGGTGTGGGAAGCTGTGCACTGGCCCAGCTCCGTCCTGGCCCCCCAGGCACCCTCTCAGCCCCCACTCCTCTTCTGGGAGCCCATCTCCCCTCTCCTGGCCAGGTCCCATGACACCATCACCCCCATAGTGTCATCTGGGCTGAGCCCCTGGGGTACACCCCTCCGGCCCTCCCAGCTCCCCAGAACAGGCACCTGGAGGTCCAGCCTGACCCATGGTGAGGGGGCATGGGCTCCGAGCCCTGCTGCCTGCAGCCCCTACCTGCCTCTTAGCACCAGGGGCAGGATCAGGAGGTCCCAGAAGCAGGAGGATGAGACCATGGGGGCAGGCAGGTTGGAGTATCCTGTGCCCCGGCCCCTCGCATCCCTATGTCCCACCCTGGCCTCAGCCTCGGAACCTCTCGGGGCCGCTCTGCACACACCCAGCCTTTGGCTCTCCTGCCCCGAGCGGGTTTGGTAGTGGGCACCAGCTATCTGCAGGACCCCTCCCTTCCGCCCTTTCCACCCTGAGCCATGCCACAGCAGGACATGCGGTGGCTGCCCCAGGACGCCACAGTGCTCTGAGGCCCGGCAGCTGGAGAGGACATGGGTGCCTCCTTGAGAGGAGTGTGTAGGGAGGGAGGCTGGATGGGGGGAGCCCAGGTAGGAGGGCAGAGCCAGGCGCTGGCAGGGCCGGGGGGAGGCAAGGCAGGCACTTCCCCAGGGCTTCCTGGGGGCTCACAGCCCTTCAGAGACACCCCCAGCTGCAACCTCAGGGGCTGG
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Task1_train_14856
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This gene mutation involves TH (tyrosine hydroxylase) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Autosomal recessive DOPA responsive dystonia
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GCCAGGCCAGGATGCAGGCAGGCCAGGGTGAGGGTCACAATTCGTGGGTGGAAGGAGAGGCCTCAGCCTGGACGGCAAGAGGGTGAGGCCTGGATTCAGACCCCCAAACCCACACCCCAGGCCCTGCAGGGAGGGGTCAACCCACCGTGGACAGCTTCTCAATTTCCTCATCCGAGGCCCCCAGGGACGCCAGGCCAATGTCCTGTGGAGCAGGGAGGATGAAGGATGGGGAGAGGCAGCCCTGGGTCATGCTCGAGGTGGGGGCACCGGGGGTGTCAGCAGCCCCTCCAGGGGTCTCTGGGACACTTCCCTGGCGGCAGAGACCTTCCCTGGCCGCCCAGGATCCGCACCTCCACCGGGCCTCCTCCTCCAGGCAGCCCTCCTTGACCACATTCCTAAGCCCGTGGGCGCCGTTCCCAGGTAGCCGGCAGGTGGCAGCACAGGCCGTGGGAGGCTCCGCTCCAGCCCCGCCCTATGCCGCGCGACCCTCGGGGCGCCGAGCCTCCTTGGCGGGGCCCGGGAGCAGGCAGCACACTTCACCCACCCGCACATCGATCCCCGCCCGCCCCCGGCGCCAAGCCAGCCCCTGGGTGACCCCGGCTCCCTCCGAGGCCGCGGCGTACCTGCGAGAACTGCGCGAAGGTGCGGTCGGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCCTGCGCGTAGGAGGGAGAAGGGGGCTGAGGGGCCGCCCGTCGCACCCCCCACCCTCGGGCTGGCGGCCAGGGCGCGCACTCACGGCTCAGGGGAGTGCATGGGCGAGGACGCGTGGCGGATATACTGGGTGCACTGGAACACGCGGAAGGCCAGGCTGGCCAGGAAGTCCCGGGCGGACAGCAGGCCGGCCACAGGCCGCAGCTGGAAGCCCGTGCGCTCTGCAAGGGGCCACGCGGGTCACTGCCGAGCCGGGACGGGCTGGAGCCGCGCTGGGGTGGGGCGCTTGGCTGACCATCCCCGGCCCCCCGGCTCTGCGCCCCTCCCGTCTGGGCACACCCTTCAGGAAGCGGGAGACGTCCTCCAGCTGGGGGATATTGTCTTCCCGGTAGCCGCTGAAGCGCTCCAGCAAAGCAAAGGCCTCCAGGTGCTCCCCGCAGGCGTGCGTGGCGTAGAGGCCCTTCAGCGTGGTGTAGACCTCCTTCCTGCGGGCAGCCAGGCTCAGGGCCCTCTAATGCCCCACCCCAGTGCCCGAAACCCCCCTCCTGAACTGTGGGTGCCTCTGCCTGCCTGAGCCCCTACCAACGCAGGCCTCTTGGGGACCCCTGAAGACCCAGGCCCCCGGGAGGGGCTTTTGCTGGTGGCTTTAGGGAATCCCAGGGGATAGGGGGCCATGAGGGGCGGTCCCTCAGCACACTGGGGATGGCCCGACAGGATGGGTAGCCTCTTCCTCCCAACCCAACATTCTGAGCCCTGCAAGTCCCTCTTCTTCCCGGCCTTAGTCTCTCCTGTTGTGCCAAGGTCCCTGGAGGCGGCCCTCACACGCCAGGATTCCAGGAGGCATCCCCCGGGCTCCTCCCCAGCCCCTAGCTGCACGGAGGTCTCACCAGGTGGCAATCTCCTCGGCGGTGTACTCCACACGGGGAATCGGGTCGCCGCTGGGGAGGGGGCCAGTGGTCAGCAGGTCCCCTCGGGGAGTGAGAAGGGCAGGAGGGAGGGAGGGAGCTTCACTGGGCACAGGTCCACACCCGCCTAGTGCAGCGAGGCCTTTGGGTTGGAGGATGGACAGGAGGGTGCACCCCAGCTGACTGTGCCGTGAGCCGGCTATGTGGCCTCGGCAGGTTGCTCTAGCCCCCCTGGGCCTCAGTTTCCCCACTGGGATTTGGGGACATGGAAAGCCCTGGAGCAGAGCTGCCTGGCAGGAGGCACTGATGCTGGTGACAAGATGGGTCCTCCCCTTTGTCCTTCCCTCCCACCCCCCAGGTCCAGCGTCAGCCTGCAGGACGGAGTCTGGGTCCCGAGCGCAGGGGCCCCTCACTGCCTGTACTGGAAGGCGATCTCAGCAATCAGCTTCCTGCGCTGGCGGTACACCTGGTCCGAGAAGCCCTGAGGGCAGAGGGGATGCACGGGTCAGGAGGCTGTGCTGGGGTGGGGGCACAGGCCACGGAGGCTCCTGGAGCCGACAGACTCCTGTCCAGGGTTGGGCTAAGGGTAGGGGATGTGATCAGGGGCAGGAGGCCTGAGTGAGGGGCGCACCACTCACCGGGTGGTCCAAGTCCAGGTCAGGGTCGAACTTGGTGACCAGGTGATGACACTTGTCCAGCTCTGACACTTTTCTTGGGAACCAGGGGACTTTATGGGTGATGGAGGAAGAGATCTTGGTGAGCTCGGAGCCGTGGGGCTGTGTCACCCACCTTGAAGCAGCCTCCCCTACAAGACTTCCGGGGGGCAGAGGCAGCCGGGGCTGTGAGAGCTGCGGGGGGATCCTGGAGTGGCCCCAGGCCCGGACACGGATGTGTAGCAAAACGGGGTGCGGAGTGGAGCCCGCAGAGAGGGAACCAGGCCACCACCACGTGGTCACTGTAGGGTCCCCCTGCAGGAGCCCCTGCACCCCAGCCTCTCAAGGTCATTTGGTGGCCCTCAAGGACAGAAAACCGCCTCACCCTTGGGCCCCGCGGGGCTGCGCACGTCCTCTGACACCTGGCGCACACCACTGAGCAGGGCGGCCAGGTCCCCTCGGCGCACCTCGAGGCGCACGAAGTACTCCAGGTGGGGGCCCCCAGCTCGCGGCCTCTGGGCGGGCCGGGTCTCTAGATGGTGGATTTTGGCTTCAAACGTCTTAGGGAGCAAAAGCAGGAAGAGAGAGAGAAGGAGAAAGAGACAGAGATGGAGAGAGAGGGTGGGGTGGGCGGGGAGGAGGCACATCTGGCTGGCTGGCCAGGCCCTGCCCTTGACTTTTGTGCTAGCAGCACACAGATCCCGTTCTTCCAGGCTCAGGTCAGCTGTCGGCCACCAGGCCAGGGTTTGCCACTGGCAAGTTGGATTTTGTGTTACGTGCCTAACCAGGAGTTGTCACCGCTTGAGGCTTAACCTGGTTCTGGGCGGCTCGGTGTGTGTGTCCCAAGGCCATGCCACACAGTCCGGCTCCTCAGCCACTGGTCAGAAGGTGCCCCCAACCCTGGTGGCCTCATCCAGGTTTGTAGGATGGGCCCTGAGTCTCACTGGCCCCTGAGCGTCCAGGACACTGGCCAGAAGGGTCCGCTCCACCCCCACCTCCTGTTGCCTAGCAACAAGGGCGGTGGGTCGCAGTGGCCCTCGGGCCACAAAACTGGCTCTGGGAGCTGGGGGGCGGGGAGTCTGGCTTTAATGTCATTTGGGAGCTTCTTCCGGGAGCTGGGTCACCTGCCTCCCGGGGCACAGTGGGGCCGGAGTGACTAATGCAATCAGTGGTCACCTGAGCCACTGTGCTGGGTGGGTGGGAGAGGGCACACTGCCCTGCCCCTGCCTCTTGTGCTGCCCTGCTGGGAGCCCCCCACGTGGGAAATGGTGGGTGAGGGGGATCCAGGGGATGGGCAAGGCAAGAGGCACAGTGGGGCTTGGTAGCCTCAGCCCTAGGGGTGGGCTCAGGATCCCTCAAAAACACGGGGGTGTGGCTAGATGCCATGGGGGCTGAGCTGAGGCCTGAGACTCCCCTGCTGCATCCTGTGCCGGCCTCGGGGGCCTGGGCAGCTGCACCTCTGCTATAGAGGGGTCAGGAACTCAGCCCACACAGCCCCACCCACAGGTGAACTTGCCCCAGGGACACGAAGGCCACCAGCTCACCTCAAACACCTTCACAGCTCGGGACAGCGCCGAGGGCTTGGTGGCCCTCGGGGAGAAGAGCAGGTTTAGCACGGCCTTCCCCTCCTTCTCCTCAAAGGCCACAGCCTCCAGGGGGTCCCCGGGCTCCGAGGGGACTGCAGCGGCCGCTGCTGCCACCGCCGCCTCCCGCTCCTTGCGGGCGTCCTCGATGAGGCTCTGCCTGCGCCCAATGAACCGCGGGGACTGTGGGGACAAGGGGCACCCATGCCTCCTCCACCTGCTGAGACCCGGGGACCTCCACCCACAGCTGGTCCCACAGTCGGG
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GCCAGGCCAGGATGCAGGCAGGCCAGGGTGAGGGTCACAATTCGTGGGTGGAAGGAGAGGCCTCAGCCTGGACGGCAAGAGGGTGAGGCCTGGATTCAGACCCCCAAACCCACACCCCAGGCCCTGCAGGGAGGGGTCAACCCACCGTGGACAGCTTCTCAATTTCCTCATCCGAGGCCCCCAGGGACGCCAGGCCAATGTCCTGTGGAGCAGGGAGGATGAAGGATGGGGAGAGGCAGCCCTGGGTCATGCTCGAGGTGGGGGCACCGGGGGTGTCAGCAGCCCCTCCAGGGGTCTCTGGGACACTTCCCTGGCGGCAGAGACCTTCCCTGGCCGCCCAGGATCCGCACCTCCACCGGGCCTCCTCCTCCAGGCAGCCCTCCTTGACCACATTCCTAAGCCCGTGGGCGCCGTTCCCAGGTAGCCGGCAGGTGGCAGCACAGGCCGTGGGAGGCTCCGCTCCAGCCCCGCCCTATGCCGCGCGACCCTCGGGGCGCCGAGCCTCCTTGGCGGGGCCCGGGAGCAGGCAGCACACTTCACCCACCCGCACATCGATCCCCGCCCGCCCCCGGCGCCAAGCCAGCCCCTGGGTGACCCCGGCTCCCTCCGAGGCCGCGGCGTACCTGCGAGAACTGCGCGAAGGTGCGGTCGGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCCTGCGCGTAGGAGGGAGAAGGGGGCTGAGGGGCCGCCCGTCGCACCCCCCACCCTCGGGCTGGCGGCCAGGGCGCGCACTCACGGCTCAGGGGAGTGCATGGGCGAGGACGCGTGGCGGATATACTGGGTGCACTGGAACACGCGGAAGGCCAGGCTGGCCAGGAAGTCCCGGGCGGACAGCAGGCCGGCCACAGGCCGCAGCTGGAAGCCCGTGCGCTCTGCAAGGGGCCACGCGGGTCACTGCCGAGCCGGGACGGGCTGGAGCCGCGCTGGGGTGGGGCGCTTGGCTGACCATCCCCGGCCCCCCGGCTCTGCGCCCCTCCCGTCTGGGCACACCCTTCAGGAAGCGGGAGACGTCCTCCAGCTGGGGGATATTGTCTTCCCGGTAGCCGCTGAAGCGCTCCAGCAAAGCAAAGGCCTCCAGGTGCTCCCCGCAGGCGTGCGTGGCGTAGAGGCCCTTCAGCGTGGTGTAGACCTCCTTCCTGCGGGCAGCCAGGCTCAGGGCCCTCTAATGCCCCACCCCAGTGCCCGAAACCCCCCTCCTGAACTGTGGGTGCCTCTGCCTGCCTGAGCCCCTACCAACGCAGGCCTCTTGGGGACCCCTGAAGACCCAGGCCCCCGGGAGGGGCTTTTGCTGGTGGCTTTAGGGAATCCCAGGGGATAGGGGGCCATGAGGGGCGGTCCCTCAGCACACTGGGGATGGCCCGACAGGATGGGTAGCCTCTTCCTCCCAACCCAACATTCTGAGCCCTGCAAGTCCCTCTTCTTCCCGGCCTTAGTCTCTCCTGTTGTGCCAAGGTCCCTGGAGGCGGCCCTCACACGCCAGGATTCCAGGAGGCATCCCCCGGGCTCCTCCCCAGCCCCTAGCTGCACGGAGGTCTCACCAGGTGGCAATCTCCTCGGCGGTGTACTCCACACGGGGAATCGGGTCGCCGCTGGGGAGGGGGCCAGTGGTCAGCAGGTCCCCTCGGGGAGTGAGAAGGGCAGGAGGGAGGGAGGGAGCTTCACTGGGCACAGGTCCACACCCGCCTAGTGCAGCGAGGCCTTTGGGTTGGAGGATGGACAGGAGGGTGCACCCCAGCTGACTGTGCCGTGAGCCGGCTATGTGGCCTCGGCAGGTTGCTCTAGCCCCCCTGGGCCTCAGTTTCCCCACTGGGATTTGGGGACATGGAAAGCCCTGGAGCAGAGCTGCCTGGCAGGAGGCACTGATGCTGGTGACAAGATGGGTCCTCCCCTTTGTCCTTCCCTCCCACCCCCCAGGTCCAGCGTCAGCCTGCAGGACGGAGTCTGGGTCCCGAGCGCAGGGGCCCCTCACTGCCTGTACTGGAAGGCGATCTCAGCAATCAGCTTCCTGTGCTGGCGGTACACCTGGTCCGAGAAGCCCTGAGGGCAGAGGGGATGCACGGGTCAGGAGGCTGTGCTGGGGTGGGGGCACAGGCCACGGAGGCTCCTGGAGCCGACAGACTCCTGTCCAGGGTTGGGCTAAGGGTAGGGGATGTGATCAGGGGCAGGAGGCCTGAGTGAGGGGCGCACCACTCACCGGGTGGTCCAAGTCCAGGTCAGGGTCGAACTTGGTGACCAGGTGATGACACTTGTCCAGCTCTGACACTTTTCTTGGGAACCAGGGGACTTTATGGGTGATGGAGGAAGAGATCTTGGTGAGCTCGGAGCCGTGGGGCTGTGTCACCCACCTTGAAGCAGCCTCCCCTACAAGACTTCCGGGGGGCAGAGGCAGCCGGGGCTGTGAGAGCTGCGGGGGGATCCTGGAGTGGCCCCAGGCCCGGACACGGATGTGTAGCAAAACGGGGTGCGGAGTGGAGCCCGCAGAGAGGGAACCAGGCCACCACCACGTGGTCACTGTAGGGTCCCCCTGCAGGAGCCCCTGCACCCCAGCCTCTCAAGGTCATTTGGTGGCCCTCAAGGACAGAAAACCGCCTCACCCTTGGGCCCCGCGGGGCTGCGCACGTCCTCTGACACCTGGCGCACACCACTGAGCAGGGCGGCCAGGTCCCCTCGGCGCACCTCGAGGCGCACGAAGTACTCCAGGTGGGGGCCCCCAGCTCGCGGCCTCTGGGCGGGCCGGGTCTCTAGATGGTGGATTTTGGCTTCAAACGTCTTAGGGAGCAAAAGCAGGAAGAGAGAGAGAAGGAGAAAGAGACAGAGATGGAGAGAGAGGGTGGGGTGGGCGGGGAGGAGGCACATCTGGCTGGCTGGCCAGGCCCTGCCCTTGACTTTTGTGCTAGCAGCACACAGATCCCGTTCTTCCAGGCTCAGGTCAGCTGTCGGCCACCAGGCCAGGGTTTGCCACTGGCAAGTTGGATTTTGTGTTACGTGCCTAACCAGGAGTTGTCACCGCTTGAGGCTTAACCTGGTTCTGGGCGGCTCGGTGTGTGTGTCCCAAGGCCATGCCACACAGTCCGGCTCCTCAGCCACTGGTCAGAAGGTGCCCCCAACCCTGGTGGCCTCATCCAGGTTTGTAGGATGGGCCCTGAGTCTCACTGGCCCCTGAGCGTCCAGGACACTGGCCAGAAGGGTCCGCTCCACCCCCACCTCCTGTTGCCTAGCAACAAGGGCGGTGGGTCGCAGTGGCCCTCGGGCCACAAAACTGGCTCTGGGAGCTGGGGGGCGGGGAGTCTGGCTTTAATGTCATTTGGGAGCTTCTTCCGGGAGCTGGGTCACCTGCCTCCCGGGGCACAGTGGGGCCGGAGTGACTAATGCAATCAGTGGTCACCTGAGCCACTGTGCTGGGTGGGTGGGAGAGGGCACACTGCCCTGCCCCTGCCTCTTGTGCTGCCCTGCTGGGAGCCCCCCACGTGGGAAATGGTGGGTGAGGGGGATCCAGGGGATGGGCAAGGCAAGAGGCACAGTGGGGCTTGGTAGCCTCAGCCCTAGGGGTGGGCTCAGGATCCCTCAAAAACACGGGGGTGTGGCTAGATGCCATGGGGGCTGAGCTGAGGCCTGAGACTCCCCTGCTGCATCCTGTGCCGGCCTCGGGGGCCTGGGCAGCTGCACCTCTGCTATAGAGGGGTCAGGAACTCAGCCCACACAGCCCCACCCACAGGTGAACTTGCCCCAGGGACACGAAGGCCACCAGCTCACCTCAAACACCTTCACAGCTCGGGACAGCGCCGAGGGCTTGGTGGCCCTCGGGGAGAAGAGCAGGTTTAGCACGGCCTTCCCCTCCTTCTCCTCAAAGGCCACAGCCTCCAGGGGGTCCCCGGGCTCCGAGGGGACTGCAGCGGCCGCTGCTGCCACCGCCGCCTCCCGCTCCTTGCGGGCGTCCTCGATGAGGCTCTGCCTGCGCCCAATGAACCGCGGGGACTGTGGGGACAAGGGGCACCCATGCCTCCTCCACCTGCTGAGACCCGGGGACCTCCACCCACAGCTGGTCCCACAGTCGGG
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Task1_train_14857
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Given this context: Chromosome 11, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Long QT syndrome
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TTATTTTATCTGTTGCTTTTGGATTTCAAGTCATAGTTGGAAATGTTTTCCCGATTCACAGGTTCTTGAGGAATTGACCTGTACATTCTTGTAGAATTTGCATGGCTTCATCTCACCCTTTACACTTGAGCCTCTGATTCATTTGAGATTTATTCTCGTGTGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAATGCGTGCTGTGTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGG
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TTATTTTATCTGTTGCTTTTGGATTTCAAGTCATAGTTGGAAATGTTTTCCCGATTCACAGGTTCTTGAGGAATTGACCTGTACATTCTTGTAGAATTTGCATGGCTTCATCTCACCCTTTACACTTGAGCCTCTGATTCATTTGAGATTTATTCTCGTGTGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAATGCGTGCTGTGTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTTTGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGG
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Task1_train_14858
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This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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TATTTTATCTGTTGCTTTTGGATTTCAAGTCATAGTTGGAAATGTTTTCCCGATTCACAGGTTCTTGAGGAATTGACCTGTACATTCTTGTAGAATTTGCATGGCTTCATCTCACCCTTTACACTTGAGCCTCTGATTCATTTGAGATTTATTCTCGTGTGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAATGCGTGCTGTGTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGGC
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TATTTTATCTGTTGCTTTTGGATTTCAAGTCATAGTTGGAAATGTTTTCCCGATTCACAGGTTCTTGAGGAATTGACCTGTACATTCTTGTAGAATTTGCATGGCTTCATCTCACCCTTTACACTTGAGCCTCTGATTCATTTGAGATTTATTCTCGTGTGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAATGCGTGCTGTGTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTAAGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGGC
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Task1_train_14859
|
A change on Chromosome 11 affects gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Long QT syndrome 1
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GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGGCTCGCCACGCCCCAGAGGAAGTCTCTGCTTGCACTTGTGTTTTCTTCCTCATTTGGATTGTTTAGGTCTCGGAAGTTTGCTCAGCAAGAGTCTACCTTCGCCCAGCCTCCGCAGAGCTGGCAAGGCAGGGGTGGCTTCTGGGGACAGGGGCAGGATGGCTTCTGTGAAGGGGTGGCCAGGAAAGGGATGCTTCTGTGAAGTGGCCAGATCTGGGGCTGGTCCTTTCCAGTTCTGGGTCCTGTCCTTGTAAGACGTGTGCCTGGCCCTGGGAAGTTGTCATGAACAGCCTCCAACCCAGGTACCTCCATGTGGGGTGGGACTGGAGGTGGAC
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GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTGCAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGGCTCGCCACGCCCCAGAGGAAGTCTCTGCTTGCACTTGTGTTTTCTTCCTCATTTGGATTGTTTAGGTCTCGGAAGTTTGCTCAGCAAGAGTCTACCTTCGCCCAGCCTCCGCAGAGCTGGCAAGGCAGGGGTGGCTTCTGGGGACAGGGGCAGGATGGCTTCTGTGAAGGGGTGGCCAGGAAAGGGATGCTTCTGTGAAGTGGCCAGATCTGGGGCTGGTCCTTTCCAGTTCTGGGTCCTGTCCTTGTAAGACGTGTGCCTGGCCCTGGGAAGTTGTCATGAACAGCCTCCAACCCAGGTACCTCCATGTGGGGTGGGACTGGAGGTGGAC
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Task1_train_14860
|
This variant affects gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Long QT syndrome
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GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGGCTCGCCACGCCCCAGAGGAAGTCTCTGCTTGCACTTGTGTTTTCTTCCTCATTTGGATTGTTTAGGTCTCGGAAGTTTGCTCAGCAAGAGTCTACCTTCGCCCAGCCTCCGCAGAGCTGGCAAGGCAGGGGTGGCTTCTGGGGACAGGGGCAGGATGGCTTCTGTGAAGGGGTGGCCAGGAAAGGGATGCTTCTGTGAAGTGGCCAGATCTGGGGCTGGTCCTTTCCAGTTCTGGGTCCTGTCCTTGTAAGACGTGTGCCTGGCCCTGGGAAGTTGTCATGAACAGCCTCCAACCCAGGTACCTCCATGTGGGGTGGGACTGGAGGTGGAC
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GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTGCAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGGCTCGCCACGCCCCAGAGGAAGTCTCTGCTTGCACTTGTGTTTTCTTCCTCATTTGGATTGTTTAGGTCTCGGAAGTTTGCTCAGCAAGAGTCTACCTTCGCCCAGCCTCCGCAGAGCTGGCAAGGCAGGGGTGGCTTCTGGGGACAGGGGCAGGATGGCTTCTGTGAAGGGGTGGCCAGGAAAGGGATGCTTCTGTGAAGTGGCCAGATCTGGGGCTGGTCCTTTCCAGTTCTGGGTCCTGTCCTTGTAAGACGTGTGCCTGGCCCTGGGAAGTTGTCATGAACAGCCTCCAACCCAGGTACCTCCATGTGGGGTGGGACTGGAGGTGGAC
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Task1_train_14861
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Given this variant in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Cardiovascular phenotype
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GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGGCTCGCCACGCCCCAGAGGAAGTCTCTGCTTGCACTTGTGTTTTCTTCCTCATTTGGATTGTTTAGGTCTCGGAAGTTTGCTCAGCAAGAGTCTACCTTCGCCCAGCCTCCGCAGAGCTGGCAAGGCAGGGGTGGCTTCTGGGGACAGGGGCAGGATGGCTTCTGTGAAGGGGTGGCCAGGAAAGGGATGCTTCTGTGAAGTGGCCAGATCTGGGGCTGGTCCTTTCCAGTTCTGGGTCCTGTCCTTGTAAGACGTGTGCCTGGCCCTGGGAAGTTGTCATGAACAGCCTCCAACCCAGGTACCTCCATGTGGGGTGGGACTGGAGGTGGAC
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GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTCCACCTTTAGTCCCTGCCTCAGGGCTGTGTGCAGTATCCTGAAAAAAGCCGGTCTCTTCTGTTGGCTGCCCCCCACCCCCCCCCCAAGCCTGAGACGTGCTGAGACCCAAATGCCAGTAGCGGGCGGGAGGCAGTGCAGAGACCTGTGAAAATCTTCCGATGTGACCAACCCACCCCCACCCAGGGGAATCCACGGGGCGCAGCGGCAGCGCGGTCTCGACGGTGGGGAGGACAAGGCGCCCATTCTCCAAGTTACTAGGGTGGCGCAAGCGCCTCTCCCTTTAACTGCCCAGGCAGCCCCGCCTGCTATGCCCGGCAGTCAAACCAGGTCCAGACCCCGGCTGTGCCGCCCCCACCCCCCAGCAGCCCTGCCGGCTCCCCACCCACACAGCTCCCACTGGGAGGTACCTGACAGTGGTGGTCCCATCTCACCCTCCCGGTCCAAGGGCCCTGGTGGGAAGCGACCCGAGCGTATTCGCCGCCCGCAGCTCGCGCGCCTGGGCACCCGGGGGCGCTCACAGTGATCGCGGGGCCAGCACACCCTCACCCAGGACATCCCTTTCCTCCCCCCAACCCCAACTCCGGAGTGGCTCAGAGGGAGGGAAAGTAGATGCCGGCACCCTACCCCGCCCCTCCTGCCCCCGCTGTGCCGTTCTCGGTCGTGGTATCGGCCAGGCCTTACCCCTTCCTCCCTGGCGCAGCTGGGGTCCTCCTCCGGGCCAGGCAGAGCAGGCGGGCATCAGAAGTGGGGGCCAAGCAGGTGGGTGAGGGCAGGGCAGGAGCAAGCAGGGGAGATGCAGACGGGGCGGGGCCAAGCAGGTGGGTGAGGGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAAGCGGGATAGATGACACGAGCGGGGCTAAGCAGGTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGCGGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGCGGGGCACGCCGTCCCATGGGACCGGCCCTCGGCCACTGCCCCCTCCGGCCCCGCCCCGAGCGCCCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTCGCTGCAGCTCCCGGTGCCGCCGCTCGGGCCGGCCCCCCGGCAGGCCCTCCTCGTTATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTGCCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTGGCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGCCCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTGTTGGCGCGCACCCACGTCCAGGGCCGCGTCTGCAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATCGCCACCGGCGACGGCCGGCACGAAGGTGCTTCCTGAGAGCTGGTGTGGGGGAGCTCTGTCCCAGCGCCACCTGCCCCGTCGGAGCTGCGACCCCGGAGCAGAGGAGGGAAGGAAGTGGGGAAACGCAGAAACACAAACTCTGCACTCTCCCTTGAAGTTCAGAGGCGCTGCTGTGTCTGGGGGTGCGCATCTTCTCGCAGGCCCGGCGTGGGGAGGGAGCCGGCTGGGGAGGGGACCACCTGGAGCCCAGAATTTGGCTCCACACCTCCGGGAGGGTAGTCCAGGTGTGAATCCTTCTGGGAAGAGAAGCGTGCTGGGGAGCGCACCCTTGGGTGCAGTAAGATAACTCCTCAAGGTCGGCTGAGACTCGAGGCTCAGGAGCCCCCAAGAGAGAAGGCCCCTGATGTCCGGTGCCGCATCTCAGACCCCCTGAGGCCCAGGTGGACTCTGGGGCAGGGGGCTGTCCAGGATAGGAAGGTGACGGTGGCGGTGCTCCCTGAGGGCTCAGCATGCCACGGGCCGTCCCCACGGGCCCCACATTAACTAATTGAACCAAGCTCATGAAAACCTGGCTTGATGCAGAGAGCGGAGAGGCACGTTTGCAGCTCTCACTAAGAGGCAGCTGTGCTCCCGGAGAAAGCAGCGCTGGTAGCAGAGGCACCTGGCCCCCCTGTTACCAGGTGGTTCCAATTCCCGGTACAGCGTGCCTGAGCAGGGCTGGGCACTGGATTTCTCAGGGACAGGCCTGGGAAGTCACCTCCGGGAAGGTCCAGGCTGCTCTCCTCCATGCCTGCCTGGGGCCTTCCCCCGCTGCCCCAGTGGCCCTACTTCCTGGCTGCCCAGCCAGCGGCCTTTTGGTGTGGTGCCAGCCTCTGGCCTGGGAGCCTCTACCCAGACATCCCATGGCTGATGGCTGTGGGGCTCACCTGAGGGCTGAAGGGTGGTCTCCCTGAGCGTCCTCAGGTGGAAGCATCTCCTCTGCCTCGGGCAGGCTCAGTAGAGAACTGGCTGGAGGGCATCCAGAGGCCTGTCCATGCCTGCTGGCAGCTGCCACCAGGGCCTCAGGGCGGGTGACAGCAGGAGCCAGGCCCCAAATGGCTTCAAGCATCGTCTCAGGTGAGGGGGTGGGGTAGGGGTCGCAGGGCTACTGCCTTCCTTGCTAAGAGGTGGCCTTCCACATCAGGAAGGGGAAGTCTTACCCACCTCCCTCCTCAAAGATGTGGTTGGGGGGTGATCTTGGAGACTTTTCCCCACCCCAGCTCCCAAGCCCCTGTCTCCTGACATGTCAGTGGGTGCCTGAGCCACAGCCGCTGCTGGTCTGTGAGAGGAGCTGGCTCTGCTCGTGGCTGCAACAGCGGGGGCTCGGCTTGGGGTTTGGGAGATATTTGTGTGCAGTGACCCCAGGGGAACCCAGTCCGATGCCACTGTGCAAATGTCTAGCAGATGCCAGGTTCACAGGTGCTGTGTGCTGGTGGCCACCTGCCTCCCGGACCCCAGACTCTCTGAGATGTCCAAGGGTGGGAAGACCTCCTCAGCCAGAGGCCAAGGCAAAGTGCCCGCAGACCCCCTCAATTCTCACTTGTATTCAGGTTTGTGGACACATGCCTCCGGGCTCACTGCAGCCACCCGTGTGGAGGAAGAGGAGGAAGAGGGCTCGCCACGCCCCAGAGGAAGTCTCTGCTTGCACTTGTGTTTTCTTCCTCATTTGGATTGTTTAGGTCTCGGAAGTTTGCTCAGCAAGAGTCTACCTTCGCCCAGCCTCCGCAGAGCTGGCAAGGCAGGGGTGGCTTCTGGGGACAGGGGCAGGATGGCTTCTGTGAAGGGGTGGCCAGGAAAGGGATGCTTCTGTGAAGTGGCCAGATCTGGGGCTGGTCCTTTCCAGTTCTGGGTCCTGTCCTTGTAAGACGTGTGCCTGGCCCTGGGAAGTTGTCATGAACAGCCTCCAACCCAGGTACCTCCATGTGGGGTGGGACTGGAGGTGGAC
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Task1_train_14862
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The variant affects gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Atrial fibrillation, familial, 3
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GTGCTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAGATGAGGATGGATGGGCAGGGTGCAGACAGGGGCTGGCTGGGTTCGGCTCTGCAGGTAGAGCTGACCGGTGTGGCAGGGACAGGGTGTCGGTGAGGCAGGTGGCTGAGGAAATGGTAGCTGCAGGTTTTGGCCCCAGTCCCAGCAGCGGGACTATGGCTGTGGGGAGGGAGGAACCCAGGGAGGGGGCCTGAGCAGGGTCTTTGGCTGAGTGAGCCCTCAAGGGCCTTTGGGTAGGGCTACCAGAGGCCAGGAAAGGATTGTCCTGTCCACAGGAGCTTGGGGAAGGGGGTGGGGGGCCAGAGCCCCACCTTCCCCAGAAACCTCCGTGCAGCAGGAGGATGAGCCGAGGCAGGCTGTGCTGGGAGGTAGCCTGTTTGTTGTGGGCTCTGGGGGCCTGGGGAGGGTGGGCTGGGCTGTCCACATCTGGACAGGTGGAAGAGGATGGGTTCTGGGTGGGGCTGACTTCAGGAGGCTGGATGAGAGGCAATGCAGGGGGCCTTCTGGCTGTCCTGGGGTGGGTTAGAAGCCACTCAGGATGGCAGGATCTCAGGGAGCGGAGGGAGCCTGGGGCACCCTATGCCAGGCAGAGGATCTATGCCGGGGCCCCCAGGGTCTGTGTGTGGCTTTCTCTGTTTGTGTCTCCCCTGGCCCTGGGGGCCATGTGGCCATCTCCTGGCTCTCCGGTCGCTGAGGATCCACGGGGGTCCCTGGAGTCTCCGGAGCCCGTGGGAATCCCCCTAGAGGCGGGAGGAAGGCCGGGCGGGCCCTGGAGGGTACGTTTGCAGTGGCAGCAGCTCCCTATCTTTATGGTTCCGGCGATCAGAGAAGGCGGCCCGTCTTTTCTCTGCGGGCCCACAGGCCCAGAACGTTGGCCCCAGGGTGGGGCTCTGTGCGCCTTCCCTTTCATGAGTTCTGTGGCTCGGCCTCGGGGCCTTGGAAAGGAGGAAGTGAAACTGGAGGAGAGCGGCCCACAGCCTGCCGCCTGGAGGCTCCTCTGGGAAGCAGACGCTTGGTGCAGGTGTCAGGACCCCCACCTGGCGGGCTGGCTTCTGTGCTGTGACCACCAACACCCCTGCCCTGGGCCCTGAACTCCTGGACAGGGGGCGTTGACTGCTCTCTGGAAGTGATTTGTAAAATCAGCTTTGTAGAGACGTAATTACACACTGCAGTTCATTTGTGGCTCTAGGGCCCTAAGTGGCTCTAGAATGTTCAGAGTTGTGTAGCCACCACCACCATCCACATCCAGAACGTTTAATTACCCCAAAAGAAAACCCCACGCCCACAGCAGTCCCGCCCTGGGGCAGCCACCAGCCTGCTTTCTGTTTCTGTGGCTCTGGCTGTCCAGGGCGTAGCCACACTGCAGGTGGTCAGCAGGTGGTCACCTGTCTGTGTCTGGCCTTGGCGCCATGTTTCTCGGACCCATCCACGTGGCAGCATGTGTTGGTGCTTCGTCCCTTCCCGTGGCGGGACGGCATCCCTCGTGCGGACCTACCTCTAGTGTGTGCTTACCAGCTAATGGATGACTGGGTTTTCGAAGCACTGTCTGTTCCTACCTGGGGGCGGGGCTGAGGCCAGGGGCCCCTCCACTCCCCAGGTGCATCTGTGGGATGGGCAGAGGCCGTGATGCTGACTGCCGTGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATGGCTGCCTTGGAAGCTGGCATCTCCCTGGCGCTGGGCCCCATAAGGTGGGGGGCAGAGCCACTCCCAGCCCCTTGCCCACACATTGGTCCTGCCCTGATACAGGGGGCACCTCCCCAGCCCCCACACTTGCCAAGTGACTTGGGATGTATGTGCCACAGGCGAGGGGGACCAAGGACTGAGGGGAACCTGGAGCTGGTGGTCTGAAAGGGCTTCCTGGAGGAGGGGCTTCCAGGCTGGGCTGGAAGGAAGGAAGGAGGAGGTAGGGTAGAGCTGGTGTGGCCAGCAAAGGCCTGCCCGAGCCTTCGTGTCCCTGGGGTCTGGGTGACTCTGTTCCTGGGTTATGGCTGGCACACAGGCCCTGCTGGTGTCCCAGCAGCAGCCCCCACCCCAGGCACCTGGATGGTCCCTTCCATTGGCCTGAGCGGTGTCTGTGCCATTTCTGCCAGGCAGGTGCTGAGAGCAGGGCAGGGCAGGCTCATAGCCTGGTGGGAAACCCCAAAGTTGATCTGGCCGTGAGGCTGCCTGGAAGGTGGGGTGCAGGGGGCCAGCTGTGTCTGGAGCCCACGGGGTCCCCACGGAAGCCACCTGAATGTGGGCCGTGAGCAGCAGGACTCTGGCAGGACTGGGTCTAGCACCTCTCCGTGGCCAGGCTTTTGTGTTTTCCTGTCTTGTCGTGGAATAGTTCTAGTATCTACAAAGGAAGAGAGTGTCACGACTCAGCTCCCGGCATGCACAGGCAGATCTGGGCTGGTTTCATGCTGCTTTCTGGCACTGTGTCTTCCTGGCCAGGGGAGCCCGTCCCTCCGGGGTCCAGAGTCCTCTCGCGATGGCCTCGGCAGTGGTATCCGTCTCATTTCTAGGGAGTCCGTTTTACCTTTCCTTTGTTGCTTCTGGACCTTGAGCCATAGCTGGAAGAACTCACCTGTGGTTTCCTCCAGCCCTGACCAGGTTAACTGTGTGTGCTCCATGGTGGCTGGGAGTTTCCTGGGTAAGTGGTGTGAGGCACAGGCCTGCTGTCACTCTTCCCTCGTCTTCCCAGTTCTCCCAGCACTATGTTTTCCACAGTCCATCTGTCCTGCCTGACTGGAGGGGCCGTCTTCTCTGTAAACCAGACGTCCAGAGGCAGTAGGAAGGGTCTGCTTTGGGGTTTTTCTATTCTGTCCCACTGGTCTCCTGGACTTTTCCTTTACCAGGGCCCTACTGACTTGGTGGTCCCGGTACTAAAATCAATTTCATGATGTCACTTTGTGCCTCGGCAGGGCTTTCTTTTTCGGGGGTTTCCTGGTGGCGCTTGCAGCCTTGCTTTTCCCAGTGAACGTTGCCATCACCTTATCCAGCCCCGGGAAGAAACTCGAAGGCCGCGGGTGAATAAACTGGGGGAGACTGACATCTCGGTGGTCTCCAGGAGCATGGTGTGTGTGTTTATGGGCAGCATTTTATGGTTTCATTATGTAGATTGCAGGCAGTTTAAGTCTATTCCTCATCATAATAATATTGAGAGAATAAGTTGTTATTGTTGCCATCACATAGGGAGTTTCTAGTCTATCATGTTTTCCAGGCACTTTCCTGGCGTCTGCGAAAGCTGTTAATTTCTGCTACAGCCTGTGGTCCTGCTACTTCTCGTGACTGTGGTCGTAGAAGTTTTTCCCTCTGTCCTTTGCATCTTTTGCGTTTCCAGATAAGGGATGCCTTCCAGGAGGGCAGATTGCTGCTTGGGTCTGTCCAGAGCTGGGGGTGGTACCTGCGGCCAGCGGGGCCCTCCTGGCTTCTGTGGGCGGGCCGGCTGCCAGGCGGGGGGTGCGCACCTCCCGTGCTCAGGAAGGGTCCTTCAGGTCCGATGCCTGGCGTGGTTTTACGGTGACCATGTGGATTCTGGTCAGGGGTCTTTCCTGCTTCTGTGAGGTGCTCCTGTCAGTGAGGGGCCCCCCTTGCCTTCCTGGAATAAACCCCCTT
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GTGCTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAGATGAGGATGGATGGGCAGGGTGCAGACAGGGGCTGGCTGGGTTCGGCTCTGCAGGTAGAGCTGACCGGTGTGGCAGGGACAGGGTGTCGGTGAGGCAGGTGGCTGAGGAAATGGTAGCTGCAGGTTTTGGCCCCAGTCCCAGCAGCGGGACTATGGCTGTGGGGAGGGAGGAACCCAGGGAGGGGGCCTGAGCAGGGTCTTTGGCTGAGTGAGCCCTCAAGGGCCTTTGGGTAGGGCTACCAGAGGCCAGGAAAGGATTGTCCTGTCCACAGGAGCTTGGGGAAGGGGGTGGGGGGCCAGAGCCCCACCTTCCCCAGAAACCTCCGTGCAGCAGGAGGATGAGCCGAGGCAGGCTGTGCTGGGAGGTAGCCTGTTTGTTGTGGGCTCTGGGGGCCTGGGGAGGGTGGGCTGGGCTGTCCACATCTGGACAGGTGGAAGAGGATGGGTTCTGGGTGGGGCTGACTTCAGGAGGCTGGATGAGAGGCAATGCAGGGGGCCTTCTGGCTGTCCTGGGGTGGGTTAGAAGCCACTCAGGATGGCAGGATCTCAGGGAGCGGAGGGAGCCTGGGGCACCCTATGCCAGGCAGAGGATCTATGCCGGGGCCCCCAGGGTCTGTGTGTGGCTTTCTCTGTTTGTGTCTCCCCTGGCCCTGGGGGCCATGTGGCCATCTCCTGGCTCTCCGGTCGCTGAGGATCCACGGGGGTCCCTGGAGTCTCCGGAGCCCGTGGGAATCCCCCTAGAGGCGGGAGGAAGGCCGGGCGGGCCCTGGAGGGTACGTTTGCAGTGGCAGCAGCTCCCTATCTTTATGGTTCCGGCGATCAGAGAAGGCGGCCCGTCTTTTCTCTGCGGGCCCACAGGCCCAGAACGTTGGCCCCAGGGTGGGGCTCTGTGCGCCTTCCCTTTCATGAGTTCTGTGGCTCGGCCTCGGGGCCTTGGAAAGGAGGAAGTGAAACTGGAGGAGAGCGGCCCACAGCCTGCCGCCTGGAGGCTCCTCTGGGAAGCAGACGCTTGGTGCAGGTGTCAGGACCCCCACCTGGCGGGCTGGCTTCTGTGCTGTGACCACCAACACCCCTGCCCTGGGCCCTGAACTCCTGGACAGGGGGCGTTGACTGCTCTCTGGAAGTGATTTGTAAAATCAGCTTTGTAGAGACGTAATTACACACTGCAGTTCATTTGTGGCTCTAGGGCCCTAAGTGGCTCTAGAATGTTCAGAGTTGTGTAGCCACCACCACCATCCACATCCAGAACGTTTAATTACCCCAAAAGAAAACCCCACGCCCACAGCAGTCCCGCCCTGGGGCAGCCACCAGCCTGCTTTCTGTTTCTGTGGCTCTGGCTGTCCAGGGCGTAGCCACACTGCAGGTGGTCAGCAGGTGGTCACCTGTCTGTGTCTGGCCTTGGCGCCATGTTTCTCGGACCCATCCACGTGGCAGCATGTGTTGGTGCTTCGTCCCTTCCCGTGGCGGGACGGCATCCCTCGTGCGGACCTACCTCTAGTGTGTGCTTACCAGCTAATGGATGACTGGGTTTTCGAAGCACTGTCTGTTCCTACCTGGGGGCGGGGCTGAGGCCAGGGGCCCCTCCACTCCCCAGGTGCATCTGTGGGATGGGCAGAGGCCGTGATGCTGACTGCCGTGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCGGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATGGCTGCCTTGGAAGCTGGCATCTCCCTGGCGCTGGGCCCCATAAGGTGGGGGGCAGAGCCACTCCCAGCCCCTTGCCCACACATTGGTCCTGCCCTGATACAGGGGGCACCTCCCCAGCCCCCACACTTGCCAAGTGACTTGGGATGTATGTGCCACAGGCGAGGGGGACCAAGGACTGAGGGGAACCTGGAGCTGGTGGTCTGAAAGGGCTTCCTGGAGGAGGGGCTTCCAGGCTGGGCTGGAAGGAAGGAAGGAGGAGGTAGGGTAGAGCTGGTGTGGCCAGCAAAGGCCTGCCCGAGCCTTCGTGTCCCTGGGGTCTGGGTGACTCTGTTCCTGGGTTATGGCTGGCACACAGGCCCTGCTGGTGTCCCAGCAGCAGCCCCCACCCCAGGCACCTGGATGGTCCCTTCCATTGGCCTGAGCGGTGTCTGTGCCATTTCTGCCAGGCAGGTGCTGAGAGCAGGGCAGGGCAGGCTCATAGCCTGGTGGGAAACCCCAAAGTTGATCTGGCCGTGAGGCTGCCTGGAAGGTGGGGTGCAGGGGGCCAGCTGTGTCTGGAGCCCACGGGGTCCCCACGGAAGCCACCTGAATGTGGGCCGTGAGCAGCAGGACTCTGGCAGGACTGGGTCTAGCACCTCTCCGTGGCCAGGCTTTTGTGTTTTCCTGTCTTGTCGTGGAATAGTTCTAGTATCTACAAAGGAAGAGAGTGTCACGACTCAGCTCCCGGCATGCACAGGCAGATCTGGGCTGGTTTCATGCTGCTTTCTGGCACTGTGTCTTCCTGGCCAGGGGAGCCCGTCCCTCCGGGGTCCAGAGTCCTCTCGCGATGGCCTCGGCAGTGGTATCCGTCTCATTTCTAGGGAGTCCGTTTTACCTTTCCTTTGTTGCTTCTGGACCTTGAGCCATAGCTGGAAGAACTCACCTGTGGTTTCCTCCAGCCCTGACCAGGTTAACTGTGTGTGCTCCATGGTGGCTGGGAGTTTCCTGGGTAAGTGGTGTGAGGCACAGGCCTGCTGTCACTCTTCCCTCGTCTTCCCAGTTCTCCCAGCACTATGTTTTCCACAGTCCATCTGTCCTGCCTGACTGGAGGGGCCGTCTTCTCTGTAAACCAGACGTCCAGAGGCAGTAGGAAGGGTCTGCTTTGGGGTTTTTCTATTCTGTCCCACTGGTCTCCTGGACTTTTCCTTTACCAGGGCCCTACTGACTTGGTGGTCCCGGTACTAAAATCAATTTCATGATGTCACTTTGTGCCTCGGCAGGGCTTTCTTTTTCGGGGGTTTCCTGGTGGCGCTTGCAGCCTTGCTTTTCCCAGTGAACGTTGCCATCACCTTATCCAGCCCCGGGAAGAAACTCGAAGGCCGCGGGTGAATAAACTGGGGGAGACTGACATCTCGGTGGTCTCCAGGAGCATGGTGTGTGTGTTTATGGGCAGCATTTTATGGTTTCATTATGTAGATTGCAGGCAGTTTAAGTCTATTCCTCATCATAATAATATTGAGAGAATAAGTTGTTATTGTTGCCATCACATAGGGAGTTTCTAGTCTATCATGTTTTCCAGGCACTTTCCTGGCGTCTGCGAAAGCTGTTAATTTCTGCTACAGCCTGTGGTCCTGCTACTTCTCGTGACTGTGGTCGTAGAAGTTTTTCCCTCTGTCCTTTGCATCTTTTGCGTTTCCAGATAAGGGATGCCTTCCAGGAGGGCAGATTGCTGCTTGGGTCTGTCCAGAGCTGGGGGTGGTACCTGCGGCCAGCGGGGCCCTCCTGGCTTCTGTGGGCGGGCCGGCTGCCAGGCGGGGGGTGCGCACCTCCCGTGCTCAGGAAGGGTCCTTCAGGTCCGATGCCTGGCGTGGTTTTACGGTGACCATGTGGATTCTGGTCAGGGGTCTTTCCTGCTTCTGTGAGGTGCTCCTGTCAGTGAGGGGCCCCCCTTGCCTTCCTGGAATAAACCCCCTT
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Task1_train_14863
|
A change on Chromosome 11 affects gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; KCNQ1-related disorder
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CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAGATGAGGATGGATGGGCAGGGTGCAGACAGGGGCTGGCTGGGTTCGGCTCTGCAGGTAGAGCTGACCGGTGTGGCAGGGACAGGGTGTCGGTGAGGCAGGTGGCTGAGGAAATGGTAGCTGCAGGTTTTGGCCCCAGTCCCAGCAGCGGGACTATGGCTGTGGGGAGGGAGGAACCCAGGGAGGGGGCCTGAGCAGGGTCTTTGGCTGAGTGAGCCCTCAAGGGCCTTTGGGTAGGGCTACCAGAGGCCAGGAAAGGATTGTCCTGTCCACAGGAGCTTGGGGAAGGGGGTGGGGGGCCAGAGCCCCACCTTCCCCAGAAACCTCCGTGCAGCAGGAGGATGAGCCGAGGCAGGCTGTGCTGGGAGGTAGCCTGTTTGTTGTGGGCTCTGGGGGCCTGGGGAGGGTGGGCTGGGCTGTCCACATCTGGACAGGTGGAAGAGGATGGGTTCTGGGTGGGGCTGACTTCAGGAGGCTGGATGAGAGGCAATGCAGGGGGCCTTCTGGCTGTCCTGGGGTGGGTTAGAAGCCACTCAGGATGGCAGGATCTCAGGGAGCGGAGGGAGCCTGGGGCACCCTATGCCAGGCAGAGGATCTATGCCGGGGCCCCCAGGGTCTGTGTGTGGCTTTCTCTGTTTGTGTCTCCCCTGGCCCTGGGGGCCATGTGGCCATCTCCTGGCTCTCCGGTCGCTGAGGATCCACGGGGGTCCCTGGAGTCTCCGGAGCCCGTGGGAATCCCCCTAGAGGCGGGAGGAAGGCCGGGCGGGCCCTGGAGGGTACGTTTGCAGTGGCAGCAGCTCCCTATCTTTATGGTTCCGGCGATCAGAGAAGGCGGCCCGTCTTTTCTCTGCGGGCCCACAGGCCCAGAACGTTGGCCCCAGGGTGGGGCTCTGTGCGCCTTCCCTTTCATGAGTTCTGTGGCTCGGCCTCGGGGCCTTGGAAAGGAGGAAGTGAAACTGGAGGAGAGCGGCCCACAGCCTGCCGCCTGGAGGCTCCTCTGGGAAGCAGACGCTTGGTGCAGGTGTCAGGACCCCCACCTGGCGGGCTGGCTTCTGTGCTGTGACCACCAACACCCCTGCCCTGGGCCCTGAACTCCTGGACAGGGGGCGTTGACTGCTCTCTGGAAGTGATTTGTAAAATCAGCTTTGTAGAGACGTAATTACACACTGCAGTTCATTTGTGGCTCTAGGGCCCTAAGTGGCTCTAGAATGTTCAGAGTTGTGTAGCCACCACCACCATCCACATCCAGAACGTTTAATTACCCCAAAAGAAAACCCCACGCCCACAGCAGTCCCGCCCTGGGGCAGCCACCAGCCTGCTTTCTGTTTCTGTGGCTCTGGCTGTCCAGGGCGTAGCCACACTGCAGGTGGTCAGCAGGTGGTCACCTGTCTGTGTCTGGCCTTGGCGCCATGTTTCTCGGACCCATCCACGTGGCAGCATGTGTTGGTGCTTCGTCCCTTCCCGTGGCGGGACGGCATCCCTCGTGCGGACCTACCTCTAGTGTGTGCTTACCAGCTAATGGATGACTGGGTTTTCGAAGCACTGTCTGTTCCTACCTGGGGGCGGGGCTGAGGCCAGGGGCCCCTCCACTCCCCAGGTGCATCTGTGGGATGGGCAGAGGCCGTGATGCTGACTGCCGTGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATGGCTGCCTTGGAAGCTGGCATCTCCCTGGCGCTGGGCCCCATAAGGTGGGGGGCAGAGCCACTCCCAGCCCCTTGCCCACACATTGGTCCTGCCCTGATACAGGGGGCACCTCCCCAGCCCCCACACTTGCCAAGTGACTTGGGATGTATGTGCCACAGGCGAGGGGGACCAAGGACTGAGGGGAACCTGGAGCTGGTGGTCTGAAAGGGCTTCCTGGAGGAGGGGCTTCCAGGCTGGGCTGGAAGGAAGGAAGGAGGAGGTAGGGTAGAGCTGGTGTGGCCAGCAAAGGCCTGCCCGAGCCTTCGTGTCCCTGGGGTCTGGGTGACTCTGTTCCTGGGTTATGGCTGGCACACAGGCCCTGCTGGTGTCCCAGCAGCAGCCCCCACCCCAGGCACCTGGATGGTCCCTTCCATTGGCCTGAGCGGTGTCTGTGCCATTTCTGCCAGGCAGGTGCTGAGAGCAGGGCAGGGCAGGCTCATAGCCTGGTGGGAAACCCCAAAGTTGATCTGGCCGTGAGGCTGCCTGGAAGGTGGGGTGCAGGGGGCCAGCTGTGTCTGGAGCCCACGGGGTCCCCACGGAAGCCACCTGAATGTGGGCCGTGAGCAGCAGGACTCTGGCAGGACTGGGTCTAGCACCTCTCCGTGGCCAGGCTTTTGTGTTTTCCTGTCTTGTCGTGGAATAGTTCTAGTATCTACAAAGGAAGAGAGTGTCACGACTCAGCTCCCGGCATGCACAGGCAGATCTGGGCTGGTTTCATGCTGCTTTCTGGCACTGTGTCTTCCTGGCCAGGGGAGCCCGTCCCTCCGGGGTCCAGAGTCCTCTCGCGATGGCCTCGGCAGTGGTATCCGTCTCATTTCTAGGGAGTCCGTTTTACCTTTCCTTTGTTGCTTCTGGACCTTGAGCCATAGCTGGAAGAACTCACCTGTGGTTTCCTCCAGCCCTGACCAGGTTAACTGTGTGTGCTCCATGGTGGCTGGGAGTTTCCTGGGTAAGTGGTGTGAGGCACAGGCCTGCTGTCACTCTTCCCTCGTCTTCCCAGTTCTCCCAGCACTATGTTTTCCACAGTCCATCTGTCCTGCCTGACTGGAGGGGCCGTCTTCTCTGTAAACCAGACGTCCAGAGGCAGTAGGAAGGGTCTGCTTTGGGGTTTTTCTATTCTGTCCCACTGGTCTCCTGGACTTTTCCTTTACCAGGGCCCTACTGACTTGGTGGTCCCGGTACTAAAATCAATTTCATGATGTCACTTTGTGCCTCGGCAGGGCTTTCTTTTTCGGGGGTTTCCTGGTGGCGCTTGCAGCCTTGCTTTTCCCAGTGAACGTTGCCATCACCTTATCCAGCCCCGGGAAGAAACTCGAAGGCCGCGGGTGAATAAACTGGGGGAGACTGACATCTCGGTGGTCTCCAGGAGCATGGTGTGTGTGTTTATGGGCAGCATTTTATGGTTTCATTATGTAGATTGCAGGCAGTTTAAGTCTATTCCTCATCATAATAATATTGAGAGAATAAGTTGTTATTGTTGCCATCACATAGGGAGTTTCTAGTCTATCATGTTTTCCAGGCACTTTCCTGGCGTCTGCGAAAGCTGTTAATTTCTGCTACAGCCTGTGGTCCTGCTACTTCTCGTGACTGTGGTCGTAGAAGTTTTTCCCTCTGTCCTTTGCATCTTTTGCGTTTCCAGATAAGGGATGCCTTCCAGGAGGGCAGATTGCTGCTTGGGTCTGTCCAGAGCTGGGGGTGGTACCTGCGGCCAGCGGGGCCCTCCTGGCTTCTGTGGGCGGGCCGGCTGCCAGGCGGGGGGTGCGCACCTCCCGTGCTCAGGAAGGGTCCTTCAGGTCCGATGCCTGGCGTGGTTTTACGGTGACCATGTGGATTCTGGTCAGGGGTCTTTCCTGCTTCTGTGAGGTGCTCCTGTCAGTGAGGGGCCCCCCTTGCCTTCCTGGAATAAACCCCCTTGGT
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CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAGATGAGGATGGATGGGCAGGGTGCAGACAGGGGCTGGCTGGGTTCGGCTCTGCAGGTAGAGCTGACCGGTGTGGCAGGGACAGGGTGTCGGTGAGGCAGGTGGCTGAGGAAATGGTAGCTGCAGGTTTTGGCCCCAGTCCCAGCAGCGGGACTATGGCTGTGGGGAGGGAGGAACCCAGGGAGGGGGCCTGAGCAGGGTCTTTGGCTGAGTGAGCCCTCAAGGGCCTTTGGGTAGGGCTACCAGAGGCCAGGAAAGGATTGTCCTGTCCACAGGAGCTTGGGGAAGGGGGTGGGGGGCCAGAGCCCCACCTTCCCCAGAAACCTCCGTGCAGCAGGAGGATGAGCCGAGGCAGGCTGTGCTGGGAGGTAGCCTGTTTGTTGTGGGCTCTGGGGGCCTGGGGAGGGTGGGCTGGGCTGTCCACATCTGGACAGGTGGAAGAGGATGGGTTCTGGGTGGGGCTGACTTCAGGAGGCTGGATGAGAGGCAATGCAGGGGGCCTTCTGGCTGTCCTGGGGTGGGTTAGAAGCCACTCAGGATGGCAGGATCTCAGGGAGCGGAGGGAGCCTGGGGCACCCTATGCCAGGCAGAGGATCTATGCCGGGGCCCCCAGGGTCTGTGTGTGGCTTTCTCTGTTTGTGTCTCCCCTGGCCCTGGGGGCCATGTGGCCATCTCCTGGCTCTCCGGTCGCTGAGGATCCACGGGGGTCCCTGGAGTCTCCGGAGCCCGTGGGAATCCCCCTAGAGGCGGGAGGAAGGCCGGGCGGGCCCTGGAGGGTACGTTTGCAGTGGCAGCAGCTCCCTATCTTTATGGTTCCGGCGATCAGAGAAGGCGGCCCGTCTTTTCTCTGCGGGCCCACAGGCCCAGAACGTTGGCCCCAGGGTGGGGCTCTGTGCGCCTTCCCTTTCATGAGTTCTGTGGCTCGGCCTCGGGGCCTTGGAAAGGAGGAAGTGAAACTGGAGGAGAGCGGCCCACAGCCTGCCGCCTGGAGGCTCCTCTGGGAAGCAGACGCTTGGTGCAGGTGTCAGGACCCCCACCTGGCGGGCTGGCTTCTGTGCTGTGACCACCAACACCCCTGCCCTGGGCCCTGAACTCCTGGACAGGGGGCGTTGACTGCTCTCTGGAAGTGATTTGTAAAATCAGCTTTGTAGAGACGTAATTACACACTGCAGTTCATTTGTGGCTCTAGGGCCCTAAGTGGCTCTAGAATGTTCAGAGTTGTGTAGCCACCACCACCATCCACATCCAGAACGTTTAATTACCCCAAAAGAAAACCCCACGCCCACAGCAGTCCCGCCCTGGGGCAGCCACCAGCCTGCTTTCTGTTTCTGTGGCTCTGGCTGTCCAGGGCGTAGCCACACTGCAGGTGGTCAGCAGGTGGTCACCTGTCTGTGTCTGGCCTTGGCGCCATGTTTCTCGGACCCATCCACGTGGCAGCATGTGTTGGTGCTTCGTCCCTTCCCGTGGCGGGACGGCATCCCTCGTGCGGACCTACCTCTAGTGTGTGCTTACCAGCTAATGGATGACTGGGTTTTCGAAGCACTGTCTGTTCCTACCTGGGGGCGGGGCTGAGGCCAGGGGCCCCTCCACTCCCCAGGTGCATCTGTGGGATGGGCAGAGGCCGTGATGCTGACTGCCGTGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCATGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATGGCTGCCTTGGAAGCTGGCATCTCCCTGGCGCTGGGCCCCATAAGGTGGGGGGCAGAGCCACTCCCAGCCCCTTGCCCACACATTGGTCCTGCCCTGATACAGGGGGCACCTCCCCAGCCCCCACACTTGCCAAGTGACTTGGGATGTATGTGCCACAGGCGAGGGGGACCAAGGACTGAGGGGAACCTGGAGCTGGTGGTCTGAAAGGGCTTCCTGGAGGAGGGGCTTCCAGGCTGGGCTGGAAGGAAGGAAGGAGGAGGTAGGGTAGAGCTGGTGTGGCCAGCAAAGGCCTGCCCGAGCCTTCGTGTCCCTGGGGTCTGGGTGACTCTGTTCCTGGGTTATGGCTGGCACACAGGCCCTGCTGGTGTCCCAGCAGCAGCCCCCACCCCAGGCACCTGGATGGTCCCTTCCATTGGCCTGAGCGGTGTCTGTGCCATTTCTGCCAGGCAGGTGCTGAGAGCAGGGCAGGGCAGGCTCATAGCCTGGTGGGAAACCCCAAAGTTGATCTGGCCGTGAGGCTGCCTGGAAGGTGGGGTGCAGGGGGCCAGCTGTGTCTGGAGCCCACGGGGTCCCCACGGAAGCCACCTGAATGTGGGCCGTGAGCAGCAGGACTCTGGCAGGACTGGGTCTAGCACCTCTCCGTGGCCAGGCTTTTGTGTTTTCCTGTCTTGTCGTGGAATAGTTCTAGTATCTACAAAGGAAGAGAGTGTCACGACTCAGCTCCCGGCATGCACAGGCAGATCTGGGCTGGTTTCATGCTGCTTTCTGGCACTGTGTCTTCCTGGCCAGGGGAGCCCGTCCCTCCGGGGTCCAGAGTCCTCTCGCGATGGCCTCGGCAGTGGTATCCGTCTCATTTCTAGGGAGTCCGTTTTACCTTTCCTTTGTTGCTTCTGGACCTTGAGCCATAGCTGGAAGAACTCACCTGTGGTTTCCTCCAGCCCTGACCAGGTTAACTGTGTGTGCTCCATGGTGGCTGGGAGTTTCCTGGGTAAGTGGTGTGAGGCACAGGCCTGCTGTCACTCTTCCCTCGTCTTCCCAGTTCTCCCAGCACTATGTTTTCCACAGTCCATCTGTCCTGCCTGACTGGAGGGGCCGTCTTCTCTGTAAACCAGACGTCCAGAGGCAGTAGGAAGGGTCTGCTTTGGGGTTTTTCTATTCTGTCCCACTGGTCTCCTGGACTTTTCCTTTACCAGGGCCCTACTGACTTGGTGGTCCCGGTACTAAAATCAATTTCATGATGTCACTTTGTGCCTCGGCAGGGCTTTCTTTTTCGGGGGTTTCCTGGTGGCGCTTGCAGCCTTGCTTTTCCCAGTGAACGTTGCCATCACCTTATCCAGCCCCGGGAAGAAACTCGAAGGCCGCGGGTGAATAAACTGGGGGAGACTGACATCTCGGTGGTCTCCAGGAGCATGGTGTGTGTGTTTATGGGCAGCATTTTATGGTTTCATTATGTAGATTGCAGGCAGTTTAAGTCTATTCCTCATCATAATAATATTGAGAGAATAAGTTGTTATTGTTGCCATCACATAGGGAGTTTCTAGTCTATCATGTTTTCCAGGCACTTTCCTGGCGTCTGCGAAAGCTGTTAATTTCTGCTACAGCCTGTGGTCCTGCTACTTCTCGTGACTGTGGTCGTAGAAGTTTTTCCCTCTGTCCTTTGCATCTTTTGCGTTTCCAGATAAGGGATGCCTTCCAGGAGGGCAGATTGCTGCTTGGGTCTGTCCAGAGCTGGGGGTGGTACCTGCGGCCAGCGGGGCCCTCCTGGCTTCTGTGGGCGGGCCGGCTGCCAGGCGGGGGGTGCGCACCTCCCGTGCTCAGGAAGGGTCCTTCAGGTCCGATGCCTGGCGTGGTTTTACGGTGACCATGTGGATTCTGGTCAGGGGTCTTTCCTGCTTCTGTGAGGTGCTCCTGTCAGTGAGGGGCCCCCCTTGCCTTCCTGGAATAAACCCCCTTGGT
|
Task1_train_14864
|
Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Long QT syndrome
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CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAGATGAGGATGGATGGGCAGGGTGCAGACAGGGGCTGGCTGGGTTCGGCTCTGCAGGTAGAGCTGACCGGTGTGGCAGGGACAGGGTGTCGGTGAGGCAGGTGGCTGAGGAAATGGTAGCTGCAGGTTTTGGCCCCAGTCCCAGCAGCGGGACTATGGCTGTGGGGAGGGAGGAACCCAGGGAGGGGGCCTGAGCAGGGTCTTTGGCTGAGTGAGCCCTCAAGGGCCTTTGGGTAGGGCTACCAGAGGCCAGGAAAGGATTGTCCTGTCCACAGGAGCTTGGGGAAGGGGGTGGGGGGCCAGAGCCCCACCTTCCCCAGAAACCTCCGTGCAGCAGGAGGATGAGCCGAGGCAGGCTGTGCTGGGAGGTAGCCTGTTTGTTGTGGGCTCTGGGGGCCTGGGGAGGGTGGGCTGGGCTGTCCACATCTGGACAGGTGGAAGAGGATGGGTTCTGGGTGGGGCTGACTTCAGGAGGCTGGATGAGAGGCAATGCAGGGGGCCTTCTGGCTGTCCTGGGGTGGGTTAGAAGCCACTCAGGATGGCAGGATCTCAGGGAGCGGAGGGAGCCTGGGGCACCCTATGCCAGGCAGAGGATCTATGCCGGGGCCCCCAGGGTCTGTGTGTGGCTTTCTCTGTTTGTGTCTCCCCTGGCCCTGGGGGCCATGTGGCCATCTCCTGGCTCTCCGGTCGCTGAGGATCCACGGGGGTCCCTGGAGTCTCCGGAGCCCGTGGGAATCCCCCTAGAGGCGGGAGGAAGGCCGGGCGGGCCCTGGAGGGTACGTTTGCAGTGGCAGCAGCTCCCTATCTTTATGGTTCCGGCGATCAGAGAAGGCGGCCCGTCTTTTCTCTGCGGGCCCACAGGCCCAGAACGTTGGCCCCAGGGTGGGGCTCTGTGCGCCTTCCCTTTCATGAGTTCTGTGGCTCGGCCTCGGGGCCTTGGAAAGGAGGAAGTGAAACTGGAGGAGAGCGGCCCACAGCCTGCCGCCTGGAGGCTCCTCTGGGAAGCAGACGCTTGGTGCAGGTGTCAGGACCCCCACCTGGCGGGCTGGCTTCTGTGCTGTGACCACCAACACCCCTGCCCTGGGCCCTGAACTCCTGGACAGGGGGCGTTGACTGCTCTCTGGAAGTGATTTGTAAAATCAGCTTTGTAGAGACGTAATTACACACTGCAGTTCATTTGTGGCTCTAGGGCCCTAAGTGGCTCTAGAATGTTCAGAGTTGTGTAGCCACCACCACCATCCACATCCAGAACGTTTAATTACCCCAAAAGAAAACCCCACGCCCACAGCAGTCCCGCCCTGGGGCAGCCACCAGCCTGCTTTCTGTTTCTGTGGCTCTGGCTGTCCAGGGCGTAGCCACACTGCAGGTGGTCAGCAGGTGGTCACCTGTCTGTGTCTGGCCTTGGCGCCATGTTTCTCGGACCCATCCACGTGGCAGCATGTGTTGGTGCTTCGTCCCTTCCCGTGGCGGGACGGCATCCCTCGTGCGGACCTACCTCTAGTGTGTGCTTACCAGCTAATGGATGACTGGGTTTTCGAAGCACTGTCTGTTCCTACCTGGGGGCGGGGCTGAGGCCAGGGGCCCCTCCACTCCCCAGGTGCATCTGTGGGATGGGCAGAGGCCGTGATGCTGACTGCCGTGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATGGCTGCCTTGGAAGCTGGCATCTCCCTGGCGCTGGGCCCCATAAGGTGGGGGGCAGAGCCACTCCCAGCCCCTTGCCCACACATTGGTCCTGCCCTGATACAGGGGGCACCTCCCCAGCCCCCACACTTGCCAAGTGACTTGGGATGTATGTGCCACAGGCGAGGGGGACCAAGGACTGAGGGGAACCTGGAGCTGGTGGTCTGAAAGGGCTTCCTGGAGGAGGGGCTTCCAGGCTGGGCTGGAAGGAAGGAAGGAGGAGGTAGGGTAGAGCTGGTGTGGCCAGCAAAGGCCTGCCCGAGCCTTCGTGTCCCTGGGGTCTGGGTGACTCTGTTCCTGGGTTATGGCTGGCACACAGGCCCTGCTGGTGTCCCAGCAGCAGCCCCCACCCCAGGCACCTGGATGGTCCCTTCCATTGGCCTGAGCGGTGTCTGTGCCATTTCTGCCAGGCAGGTGCTGAGAGCAGGGCAGGGCAGGCTCATAGCCTGGTGGGAAACCCCAAAGTTGATCTGGCCGTGAGGCTGCCTGGAAGGTGGGGTGCAGGGGGCCAGCTGTGTCTGGAGCCCACGGGGTCCCCACGGAAGCCACCTGAATGTGGGCCGTGAGCAGCAGGACTCTGGCAGGACTGGGTCTAGCACCTCTCCGTGGCCAGGCTTTTGTGTTTTCCTGTCTTGTCGTGGAATAGTTCTAGTATCTACAAAGGAAGAGAGTGTCACGACTCAGCTCCCGGCATGCACAGGCAGATCTGGGCTGGTTTCATGCTGCTTTCTGGCACTGTGTCTTCCTGGCCAGGGGAGCCCGTCCCTCCGGGGTCCAGAGTCCTCTCGCGATGGCCTCGGCAGTGGTATCCGTCTCATTTCTAGGGAGTCCGTTTTACCTTTCCTTTGTTGCTTCTGGACCTTGAGCCATAGCTGGAAGAACTCACCTGTGGTTTCCTCCAGCCCTGACCAGGTTAACTGTGTGTGCTCCATGGTGGCTGGGAGTTTCCTGGGTAAGTGGTGTGAGGCACAGGCCTGCTGTCACTCTTCCCTCGTCTTCCCAGTTCTCCCAGCACTATGTTTTCCACAGTCCATCTGTCCTGCCTGACTGGAGGGGCCGTCTTCTCTGTAAACCAGACGTCCAGAGGCAGTAGGAAGGGTCTGCTTTGGGGTTTTTCTATTCTGTCCCACTGGTCTCCTGGACTTTTCCTTTACCAGGGCCCTACTGACTTGGTGGTCCCGGTACTAAAATCAATTTCATGATGTCACTTTGTGCCTCGGCAGGGCTTTCTTTTTCGGGGGTTTCCTGGTGGCGCTTGCAGCCTTGCTTTTCCCAGTGAACGTTGCCATCACCTTATCCAGCCCCGGGAAGAAACTCGAAGGCCGCGGGTGAATAAACTGGGGGAGACTGACATCTCGGTGGTCTCCAGGAGCATGGTGTGTGTGTTTATGGGCAGCATTTTATGGTTTCATTATGTAGATTGCAGGCAGTTTAAGTCTATTCCTCATCATAATAATATTGAGAGAATAAGTTGTTATTGTTGCCATCACATAGGGAGTTTCTAGTCTATCATGTTTTCCAGGCACTTTCCTGGCGTCTGCGAAAGCTGTTAATTTCTGCTACAGCCTGTGGTCCTGCTACTTCTCGTGACTGTGGTCGTAGAAGTTTTTCCCTCTGTCCTTTGCATCTTTTGCGTTTCCAGATAAGGGATGCCTTCCAGGAGGGCAGATTGCTGCTTGGGTCTGTCCAGAGCTGGGGGTGGTACCTGCGGCCAGCGGGGCCCTCCTGGCTTCTGTGGGCGGGCCGGCTGCCAGGCGGGGGGTGCGCACCTCCCGTGCTCAGGAAGGGTCCTTCAGGTCCGATGCCTGGCGTGGTTTTACGGTGACCATGTGGATTCTGGTCAGGGGTCTTTCCTGCTTCTGTGAGGTGCTCCTGTCAGTGAGGGGCCCCCCTTGCCTTCCTGGAATAAACCCCCTTGGT
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CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAGATGAGGATGGATGGGCAGGGTGCAGACAGGGGCTGGCTGGGTTCGGCTCTGCAGGTAGAGCTGACCGGTGTGGCAGGGACAGGGTGTCGGTGAGGCAGGTGGCTGAGGAAATGGTAGCTGCAGGTTTTGGCCCCAGTCCCAGCAGCGGGACTATGGCTGTGGGGAGGGAGGAACCCAGGGAGGGGGCCTGAGCAGGGTCTTTGGCTGAGTGAGCCCTCAAGGGCCTTTGGGTAGGGCTACCAGAGGCCAGGAAAGGATTGTCCTGTCCACAGGAGCTTGGGGAAGGGGGTGGGGGGCCAGAGCCCCACCTTCCCCAGAAACCTCCGTGCAGCAGGAGGATGAGCCGAGGCAGGCTGTGCTGGGAGGTAGCCTGTTTGTTGTGGGCTCTGGGGGCCTGGGGAGGGTGGGCTGGGCTGTCCACATCTGGACAGGTGGAAGAGGATGGGTTCTGGGTGGGGCTGACTTCAGGAGGCTGGATGAGAGGCAATGCAGGGGGCCTTCTGGCTGTCCTGGGGTGGGTTAGAAGCCACTCAGGATGGCAGGATCTCAGGGAGCGGAGGGAGCCTGGGGCACCCTATGCCAGGCAGAGGATCTATGCCGGGGCCCCCAGGGTCTGTGTGTGGCTTTCTCTGTTTGTGTCTCCCCTGGCCCTGGGGGCCATGTGGCCATCTCCTGGCTCTCCGGTCGCTGAGGATCCACGGGGGTCCCTGGAGTCTCCGGAGCCCGTGGGAATCCCCCTAGAGGCGGGAGGAAGGCCGGGCGGGCCCTGGAGGGTACGTTTGCAGTGGCAGCAGCTCCCTATCTTTATGGTTCCGGCGATCAGAGAAGGCGGCCCGTCTTTTCTCTGCGGGCCCACAGGCCCAGAACGTTGGCCCCAGGGTGGGGCTCTGTGCGCCTTCCCTTTCATGAGTTCTGTGGCTCGGCCTCGGGGCCTTGGAAAGGAGGAAGTGAAACTGGAGGAGAGCGGCCCACAGCCTGCCGCCTGGAGGCTCCTCTGGGAAGCAGACGCTTGGTGCAGGTGTCAGGACCCCCACCTGGCGGGCTGGCTTCTGTGCTGTGACCACCAACACCCCTGCCCTGGGCCCTGAACTCCTGGACAGGGGGCGTTGACTGCTCTCTGGAAGTGATTTGTAAAATCAGCTTTGTAGAGACGTAATTACACACTGCAGTTCATTTGTGGCTCTAGGGCCCTAAGTGGCTCTAGAATGTTCAGAGTTGTGTAGCCACCACCACCATCCACATCCAGAACGTTTAATTACCCCAAAAGAAAACCCCACGCCCACAGCAGTCCCGCCCTGGGGCAGCCACCAGCCTGCTTTCTGTTTCTGTGGCTCTGGCTGTCCAGGGCGTAGCCACACTGCAGGTGGTCAGCAGGTGGTCACCTGTCTGTGTCTGGCCTTGGCGCCATGTTTCTCGGACCCATCCACGTGGCAGCATGTGTTGGTGCTTCGTCCCTTCCCGTGGCGGGACGGCATCCCTCGTGCGGACCTACCTCTAGTGTGTGCTTACCAGCTAATGGATGACTGGGTTTTCGAAGCACTGTCTGTTCCTACCTGGGGGCGGGGCTGAGGCCAGGGGCCCCTCCACTCCCCAGGTGCATCTGTGGGATGGGCAGAGGCCGTGATGCTGACTGCCGTGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCATGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATGGCTGCCTTGGAAGCTGGCATCTCCCTGGCGCTGGGCCCCATAAGGTGGGGGGCAGAGCCACTCCCAGCCCCTTGCCCACACATTGGTCCTGCCCTGATACAGGGGGCACCTCCCCAGCCCCCACACTTGCCAAGTGACTTGGGATGTATGTGCCACAGGCGAGGGGGACCAAGGACTGAGGGGAACCTGGAGCTGGTGGTCTGAAAGGGCTTCCTGGAGGAGGGGCTTCCAGGCTGGGCTGGAAGGAAGGAAGGAGGAGGTAGGGTAGAGCTGGTGTGGCCAGCAAAGGCCTGCCCGAGCCTTCGTGTCCCTGGGGTCTGGGTGACTCTGTTCCTGGGTTATGGCTGGCACACAGGCCCTGCTGGTGTCCCAGCAGCAGCCCCCACCCCAGGCACCTGGATGGTCCCTTCCATTGGCCTGAGCGGTGTCTGTGCCATTTCTGCCAGGCAGGTGCTGAGAGCAGGGCAGGGCAGGCTCATAGCCTGGTGGGAAACCCCAAAGTTGATCTGGCCGTGAGGCTGCCTGGAAGGTGGGGTGCAGGGGGCCAGCTGTGTCTGGAGCCCACGGGGTCCCCACGGAAGCCACCTGAATGTGGGCCGTGAGCAGCAGGACTCTGGCAGGACTGGGTCTAGCACCTCTCCGTGGCCAGGCTTTTGTGTTTTCCTGTCTTGTCGTGGAATAGTTCTAGTATCTACAAAGGAAGAGAGTGTCACGACTCAGCTCCCGGCATGCACAGGCAGATCTGGGCTGGTTTCATGCTGCTTTCTGGCACTGTGTCTTCCTGGCCAGGGGAGCCCGTCCCTCCGGGGTCCAGAGTCCTCTCGCGATGGCCTCGGCAGTGGTATCCGTCTCATTTCTAGGGAGTCCGTTTTACCTTTCCTTTGTTGCTTCTGGACCTTGAGCCATAGCTGGAAGAACTCACCTGTGGTTTCCTCCAGCCCTGACCAGGTTAACTGTGTGTGCTCCATGGTGGCTGGGAGTTTCCTGGGTAAGTGGTGTGAGGCACAGGCCTGCTGTCACTCTTCCCTCGTCTTCCCAGTTCTCCCAGCACTATGTTTTCCACAGTCCATCTGTCCTGCCTGACTGGAGGGGCCGTCTTCTCTGTAAACCAGACGTCCAGAGGCAGTAGGAAGGGTCTGCTTTGGGGTTTTTCTATTCTGTCCCACTGGTCTCCTGGACTTTTCCTTTACCAGGGCCCTACTGACTTGGTGGTCCCGGTACTAAAATCAATTTCATGATGTCACTTTGTGCCTCGGCAGGGCTTTCTTTTTCGGGGGTTTCCTGGTGGCGCTTGCAGCCTTGCTTTTCCCAGTGAACGTTGCCATCACCTTATCCAGCCCCGGGAAGAAACTCGAAGGCCGCGGGTGAATAAACTGGGGGAGACTGACATCTCGGTGGTCTCCAGGAGCATGGTGTGTGTGTTTATGGGCAGCATTTTATGGTTTCATTATGTAGATTGCAGGCAGTTTAAGTCTATTCCTCATCATAATAATATTGAGAGAATAAGTTGTTATTGTTGCCATCACATAGGGAGTTTCTAGTCTATCATGTTTTCCAGGCACTTTCCTGGCGTCTGCGAAAGCTGTTAATTTCTGCTACAGCCTGTGGTCCTGCTACTTCTCGTGACTGTGGTCGTAGAAGTTTTTCCCTCTGTCCTTTGCATCTTTTGCGTTTCCAGATAAGGGATGCCTTCCAGGAGGGCAGATTGCTGCTTGGGTCTGTCCAGAGCTGGGGGTGGTACCTGCGGCCAGCGGGGCCCTCCTGGCTTCTGTGGGCGGGCCGGCTGCCAGGCGGGGGGTGCGCACCTCCCGTGCTCAGGAAGGGTCCTTCAGGTCCGATGCCTGGCGTGGTTTTACGGTGACCATGTGGATTCTGGTCAGGGGTCTTTCCTGCTTCTGTGAGGTGCTCCTGTCAGTGAGGGGCCCCCCTTGCCTTCCTGGAATAAACCCCCTTGGT
|
Task1_train_14865
|
Chromosome 11 houses a mutation in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Cardiovascular phenotype
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CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAGATGAGGATGGATGGGCAGGGTGCAGACAGGGGCTGGCTGGGTTCGGCTCTGCAGGTAGAGCTGACCGGTGTGGCAGGGACAGGGTGTCGGTGAGGCAGGTGGCTGAGGAAATGGTAGCTGCAGGTTTTGGCCCCAGTCCCAGCAGCGGGACTATGGCTGTGGGGAGGGAGGAACCCAGGGAGGGGGCCTGAGCAGGGTCTTTGGCTGAGTGAGCCCTCAAGGGCCTTTGGGTAGGGCTACCAGAGGCCAGGAAAGGATTGTCCTGTCCACAGGAGCTTGGGGAAGGGGGTGGGGGGCCAGAGCCCCACCTTCCCCAGAAACCTCCGTGCAGCAGGAGGATGAGCCGAGGCAGGCTGTGCTGGGAGGTAGCCTGTTTGTTGTGGGCTCTGGGGGCCTGGGGAGGGTGGGCTGGGCTGTCCACATCTGGACAGGTGGAAGAGGATGGGTTCTGGGTGGGGCTGACTTCAGGAGGCTGGATGAGAGGCAATGCAGGGGGCCTTCTGGCTGTCCTGGGGTGGGTTAGAAGCCACTCAGGATGGCAGGATCTCAGGGAGCGGAGGGAGCCTGGGGCACCCTATGCCAGGCAGAGGATCTATGCCGGGGCCCCCAGGGTCTGTGTGTGGCTTTCTCTGTTTGTGTCTCCCCTGGCCCTGGGGGCCATGTGGCCATCTCCTGGCTCTCCGGTCGCTGAGGATCCACGGGGGTCCCTGGAGTCTCCGGAGCCCGTGGGAATCCCCCTAGAGGCGGGAGGAAGGCCGGGCGGGCCCTGGAGGGTACGTTTGCAGTGGCAGCAGCTCCCTATCTTTATGGTTCCGGCGATCAGAGAAGGCGGCCCGTCTTTTCTCTGCGGGCCCACAGGCCCAGAACGTTGGCCCCAGGGTGGGGCTCTGTGCGCCTTCCCTTTCATGAGTTCTGTGGCTCGGCCTCGGGGCCTTGGAAAGGAGGAAGTGAAACTGGAGGAGAGCGGCCCACAGCCTGCCGCCTGGAGGCTCCTCTGGGAAGCAGACGCTTGGTGCAGGTGTCAGGACCCCCACCTGGCGGGCTGGCTTCTGTGCTGTGACCACCAACACCCCTGCCCTGGGCCCTGAACTCCTGGACAGGGGGCGTTGACTGCTCTCTGGAAGTGATTTGTAAAATCAGCTTTGTAGAGACGTAATTACACACTGCAGTTCATTTGTGGCTCTAGGGCCCTAAGTGGCTCTAGAATGTTCAGAGTTGTGTAGCCACCACCACCATCCACATCCAGAACGTTTAATTACCCCAAAAGAAAACCCCACGCCCACAGCAGTCCCGCCCTGGGGCAGCCACCAGCCTGCTTTCTGTTTCTGTGGCTCTGGCTGTCCAGGGCGTAGCCACACTGCAGGTGGTCAGCAGGTGGTCACCTGTCTGTGTCTGGCCTTGGCGCCATGTTTCTCGGACCCATCCACGTGGCAGCATGTGTTGGTGCTTCGTCCCTTCCCGTGGCGGGACGGCATCCCTCGTGCGGACCTACCTCTAGTGTGTGCTTACCAGCTAATGGATGACTGGGTTTTCGAAGCACTGTCTGTTCCTACCTGGGGGCGGGGCTGAGGCCAGGGGCCCCTCCACTCCCCAGGTGCATCTGTGGGATGGGCAGAGGCCGTGATGCTGACTGCCGTGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATGGCTGCCTTGGAAGCTGGCATCTCCCTGGCGCTGGGCCCCATAAGGTGGGGGGCAGAGCCACTCCCAGCCCCTTGCCCACACATTGGTCCTGCCCTGATACAGGGGGCACCTCCCCAGCCCCCACACTTGCCAAGTGACTTGGGATGTATGTGCCACAGGCGAGGGGGACCAAGGACTGAGGGGAACCTGGAGCTGGTGGTCTGAAAGGGCTTCCTGGAGGAGGGGCTTCCAGGCTGGGCTGGAAGGAAGGAAGGAGGAGGTAGGGTAGAGCTGGTGTGGCCAGCAAAGGCCTGCCCGAGCCTTCGTGTCCCTGGGGTCTGGGTGACTCTGTTCCTGGGTTATGGCTGGCACACAGGCCCTGCTGGTGTCCCAGCAGCAGCCCCCACCCCAGGCACCTGGATGGTCCCTTCCATTGGCCTGAGCGGTGTCTGTGCCATTTCTGCCAGGCAGGTGCTGAGAGCAGGGCAGGGCAGGCTCATAGCCTGGTGGGAAACCCCAAAGTTGATCTGGCCGTGAGGCTGCCTGGAAGGTGGGGTGCAGGGGGCCAGCTGTGTCTGGAGCCCACGGGGTCCCCACGGAAGCCACCTGAATGTGGGCCGTGAGCAGCAGGACTCTGGCAGGACTGGGTCTAGCACCTCTCCGTGGCCAGGCTTTTGTGTTTTCCTGTCTTGTCGTGGAATAGTTCTAGTATCTACAAAGGAAGAGAGTGTCACGACTCAGCTCCCGGCATGCACAGGCAGATCTGGGCTGGTTTCATGCTGCTTTCTGGCACTGTGTCTTCCTGGCCAGGGGAGCCCGTCCCTCCGGGGTCCAGAGTCCTCTCGCGATGGCCTCGGCAGTGGTATCCGTCTCATTTCTAGGGAGTCCGTTTTACCTTTCCTTTGTTGCTTCTGGACCTTGAGCCATAGCTGGAAGAACTCACCTGTGGTTTCCTCCAGCCCTGACCAGGTTAACTGTGTGTGCTCCATGGTGGCTGGGAGTTTCCTGGGTAAGTGGTGTGAGGCACAGGCCTGCTGTCACTCTTCCCTCGTCTTCCCAGTTCTCCCAGCACTATGTTTTCCACAGTCCATCTGTCCTGCCTGACTGGAGGGGCCGTCTTCTCTGTAAACCAGACGTCCAGAGGCAGTAGGAAGGGTCTGCTTTGGGGTTTTTCTATTCTGTCCCACTGGTCTCCTGGACTTTTCCTTTACCAGGGCCCTACTGACTTGGTGGTCCCGGTACTAAAATCAATTTCATGATGTCACTTTGTGCCTCGGCAGGGCTTTCTTTTTCGGGGGTTTCCTGGTGGCGCTTGCAGCCTTGCTTTTCCCAGTGAACGTTGCCATCACCTTATCCAGCCCCGGGAAGAAACTCGAAGGCCGCGGGTGAATAAACTGGGGGAGACTGACATCTCGGTGGTCTCCAGGAGCATGGTGTGTGTGTTTATGGGCAGCATTTTATGGTTTCATTATGTAGATTGCAGGCAGTTTAAGTCTATTCCTCATCATAATAATATTGAGAGAATAAGTTGTTATTGTTGCCATCACATAGGGAGTTTCTAGTCTATCATGTTTTCCAGGCACTTTCCTGGCGTCTGCGAAAGCTGTTAATTTCTGCTACAGCCTGTGGTCCTGCTACTTCTCGTGACTGTGGTCGTAGAAGTTTTTCCCTCTGTCCTTTGCATCTTTTGCGTTTCCAGATAAGGGATGCCTTCCAGGAGGGCAGATTGCTGCTTGGGTCTGTCCAGAGCTGGGGGTGGTACCTGCGGCCAGCGGGGCCCTCCTGGCTTCTGTGGGCGGGCCGGCTGCCAGGCGGGGGGTGCGCACCTCCCGTGCTCAGGAAGGGTCCTTCAGGTCCGATGCCTGGCGTGGTTTTACGGTGACCATGTGGATTCTGGTCAGGGGTCTTTCCTGCTTCTGTGAGGTGCTCCTGTCAGTGAGGGGCCCCCCTTGCCTTCCTGGAATAAACCCCCTTGGT
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CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAGATGAGGATGGATGGGCAGGGTGCAGACAGGGGCTGGCTGGGTTCGGCTCTGCAGGTAGAGCTGACCGGTGTGGCAGGGACAGGGTGTCGGTGAGGCAGGTGGCTGAGGAAATGGTAGCTGCAGGTTTTGGCCCCAGTCCCAGCAGCGGGACTATGGCTGTGGGGAGGGAGGAACCCAGGGAGGGGGCCTGAGCAGGGTCTTTGGCTGAGTGAGCCCTCAAGGGCCTTTGGGTAGGGCTACCAGAGGCCAGGAAAGGATTGTCCTGTCCACAGGAGCTTGGGGAAGGGGGTGGGGGGCCAGAGCCCCACCTTCCCCAGAAACCTCCGTGCAGCAGGAGGATGAGCCGAGGCAGGCTGTGCTGGGAGGTAGCCTGTTTGTTGTGGGCTCTGGGGGCCTGGGGAGGGTGGGCTGGGCTGTCCACATCTGGACAGGTGGAAGAGGATGGGTTCTGGGTGGGGCTGACTTCAGGAGGCTGGATGAGAGGCAATGCAGGGGGCCTTCTGGCTGTCCTGGGGTGGGTTAGAAGCCACTCAGGATGGCAGGATCTCAGGGAGCGGAGGGAGCCTGGGGCACCCTATGCCAGGCAGAGGATCTATGCCGGGGCCCCCAGGGTCTGTGTGTGGCTTTCTCTGTTTGTGTCTCCCCTGGCCCTGGGGGCCATGTGGCCATCTCCTGGCTCTCCGGTCGCTGAGGATCCACGGGGGTCCCTGGAGTCTCCGGAGCCCGTGGGAATCCCCCTAGAGGCGGGAGGAAGGCCGGGCGGGCCCTGGAGGGTACGTTTGCAGTGGCAGCAGCTCCCTATCTTTATGGTTCCGGCGATCAGAGAAGGCGGCCCGTCTTTTCTCTGCGGGCCCACAGGCCCAGAACGTTGGCCCCAGGGTGGGGCTCTGTGCGCCTTCCCTTTCATGAGTTCTGTGGCTCGGCCTCGGGGCCTTGGAAAGGAGGAAGTGAAACTGGAGGAGAGCGGCCCACAGCCTGCCGCCTGGAGGCTCCTCTGGGAAGCAGACGCTTGGTGCAGGTGTCAGGACCCCCACCTGGCGGGCTGGCTTCTGTGCTGTGACCACCAACACCCCTGCCCTGGGCCCTGAACTCCTGGACAGGGGGCGTTGACTGCTCTCTGGAAGTGATTTGTAAAATCAGCTTTGTAGAGACGTAATTACACACTGCAGTTCATTTGTGGCTCTAGGGCCCTAAGTGGCTCTAGAATGTTCAGAGTTGTGTAGCCACCACCACCATCCACATCCAGAACGTTTAATTACCCCAAAAGAAAACCCCACGCCCACAGCAGTCCCGCCCTGGGGCAGCCACCAGCCTGCTTTCTGTTTCTGTGGCTCTGGCTGTCCAGGGCGTAGCCACACTGCAGGTGGTCAGCAGGTGGTCACCTGTCTGTGTCTGGCCTTGGCGCCATGTTTCTCGGACCCATCCACGTGGCAGCATGTGTTGGTGCTTCGTCCCTTCCCGTGGCGGGACGGCATCCCTCGTGCGGACCTACCTCTAGTGTGTGCTTACCAGCTAATGGATGACTGGGTTTTCGAAGCACTGTCTGTTCCTACCTGGGGGCGGGGCTGAGGCCAGGGGCCCCTCCACTCCCCAGGTGCATCTGTGGGATGGGCAGAGGCCGTGATGCTGACTGCCGTGTCCCTGTCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCATGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATGGCTGCCTTGGAAGCTGGCATCTCCCTGGCGCTGGGCCCCATAAGGTGGGGGGCAGAGCCACTCCCAGCCCCTTGCCCACACATTGGTCCTGCCCTGATACAGGGGGCACCTCCCCAGCCCCCACACTTGCCAAGTGACTTGGGATGTATGTGCCACAGGCGAGGGGGACCAAGGACTGAGGGGAACCTGGAGCTGGTGGTCTGAAAGGGCTTCCTGGAGGAGGGGCTTCCAGGCTGGGCTGGAAGGAAGGAAGGAGGAGGTAGGGTAGAGCTGGTGTGGCCAGCAAAGGCCTGCCCGAGCCTTCGTGTCCCTGGGGTCTGGGTGACTCTGTTCCTGGGTTATGGCTGGCACACAGGCCCTGCTGGTGTCCCAGCAGCAGCCCCCACCCCAGGCACCTGGATGGTCCCTTCCATTGGCCTGAGCGGTGTCTGTGCCATTTCTGCCAGGCAGGTGCTGAGAGCAGGGCAGGGCAGGCTCATAGCCTGGTGGGAAACCCCAAAGTTGATCTGGCCGTGAGGCTGCCTGGAAGGTGGGGTGCAGGGGGCCAGCTGTGTCTGGAGCCCACGGGGTCCCCACGGAAGCCACCTGAATGTGGGCCGTGAGCAGCAGGACTCTGGCAGGACTGGGTCTAGCACCTCTCCGTGGCCAGGCTTTTGTGTTTTCCTGTCTTGTCGTGGAATAGTTCTAGTATCTACAAAGGAAGAGAGTGTCACGACTCAGCTCCCGGCATGCACAGGCAGATCTGGGCTGGTTTCATGCTGCTTTCTGGCACTGTGTCTTCCTGGCCAGGGGAGCCCGTCCCTCCGGGGTCCAGAGTCCTCTCGCGATGGCCTCGGCAGTGGTATCCGTCTCATTTCTAGGGAGTCCGTTTTACCTTTCCTTTGTTGCTTCTGGACCTTGAGCCATAGCTGGAAGAACTCACCTGTGGTTTCCTCCAGCCCTGACCAGGTTAACTGTGTGTGCTCCATGGTGGCTGGGAGTTTCCTGGGTAAGTGGTGTGAGGCACAGGCCTGCTGTCACTCTTCCCTCGTCTTCCCAGTTCTCCCAGCACTATGTTTTCCACAGTCCATCTGTCCTGCCTGACTGGAGGGGCCGTCTTCTCTGTAAACCAGACGTCCAGAGGCAGTAGGAAGGGTCTGCTTTGGGGTTTTTCTATTCTGTCCCACTGGTCTCCTGGACTTTTCCTTTACCAGGGCCCTACTGACTTGGTGGTCCCGGTACTAAAATCAATTTCATGATGTCACTTTGTGCCTCGGCAGGGCTTTCTTTTTCGGGGGTTTCCTGGTGGCGCTTGCAGCCTTGCTTTTCCCAGTGAACGTTGCCATCACCTTATCCAGCCCCGGGAAGAAACTCGAAGGCCGCGGGTGAATAAACTGGGGGAGACTGACATCTCGGTGGTCTCCAGGAGCATGGTGTGTGTGTTTATGGGCAGCATTTTATGGTTTCATTATGTAGATTGCAGGCAGTTTAAGTCTATTCCTCATCATAATAATATTGAGAGAATAAGTTGTTATTGTTGCCATCACATAGGGAGTTTCTAGTCTATCATGTTTTCCAGGCACTTTCCTGGCGTCTGCGAAAGCTGTTAATTTCTGCTACAGCCTGTGGTCCTGCTACTTCTCGTGACTGTGGTCGTAGAAGTTTTTCCCTCTGTCCTTTGCATCTTTTGCGTTTCCAGATAAGGGATGCCTTCCAGGAGGGCAGATTGCTGCTTGGGTCTGTCCAGAGCTGGGGGTGGTACCTGCGGCCAGCGGGGCCCTCCTGGCTTCTGTGGGCGGGCCGGCTGCCAGGCGGGGGGTGCGCACCTCCCGTGCTCAGGAAGGGTCCTTCAGGTCCGATGCCTGGCGTGGTTTTACGGTGACCATGTGGATTCTGGTCAGGGGTCTTTCCTGCTTCTGTGAGGTGCTCCTGTCAGTGAGGGGCCCCCCTTGCCTTCCTGGAATAAACCCCCTTGGT
|
Task1_train_14866
|
Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Long QT syndrome 1
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14867
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Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Short QT syndrome type 2
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14868
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Chromosome 11 houses a mutation in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Jervell and Lange-Nielsen syndrome 1
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14869
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A variant found in Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Atrial fibrillation, familial, 3
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14870
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This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Cardiovascular phenotype
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14871
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A variant affecting Chromosome 11, within the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Cardiac arrhythmia
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14872
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This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Long QT syndrome 1
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14873
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Here’s a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Congenital long QT syndrome
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14874
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Mutation context: Chromosome 11, Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Long QT syndrome
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCAGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14875
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This variant impacts the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Cardiovascular phenotype
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCCGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14876
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Here’s a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Long QT syndrome
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCCGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTA
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Task1_train_14877
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This mutation is located in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Recurrent spontaneous abortion
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ATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCT
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ATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGACCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCT
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Task1_train_14878
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Given this context: Chromosome 11, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Long QT syndrome 1
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TTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCG
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TTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCCCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCG
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Task1_train_14879
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This variant lies on Chromosome 11 and affects the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Congenital long QT syndrome
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCAGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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Task1_train_14880
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The following genetic variant occurs in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Long QT syndrome
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCAGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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Task1_train_14881
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Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Long QT syndrome 1
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCAGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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Task1_train_14882
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This mutation is located in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Cardiovascular phenotype
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCAGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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Task1_train_14883
|
Here is a genetic alteration in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Cardiac arrhythmia
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCAGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGC
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Task1_train_14884
|
This sequence change occurs on Chromosome 11, altering KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; not provided
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CAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAG
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CAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGTCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAG
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Task1_train_14885
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The gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Cardiac arrhythmia
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCAGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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Task1_train_14886
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This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Long QT syndrome
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCAGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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Task1_train_14887
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A variant found in Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Congenital long QT syndrome
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCAGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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Task1_train_14888
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A mutation found in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Cardiovascular phenotype
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCAGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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Task1_train_14889
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This variant impacts the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Long QT syndrome 1
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCAGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGA
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Task1_train_14890
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Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Long QT syndrome 1
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GTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGG
|
GTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCGTGCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGAACTCGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCCACACCCTTTCTTTACCTTACACCCCTGCCATCTCCAGTATGCACCTGTCCGCACACACCCACACACCCCTGAAGGATTTGACGTCATGAGCCAAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTGCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGG
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Task1_train_14891
|
This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Long QT syndrome
|
AAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAG
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AAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGGCCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAG
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Task1_train_14892
|
This sequence change occurs on Chromosome 11, altering KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Long QT syndrome
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCATGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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Task1_train_14893
|
A variant was discovered on Chromosome 11, affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cardiovascular phenotype
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCATGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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Task1_train_14894
|
This sequence change occurs on Chromosome 11, altering KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; KCNQ1-related disorder
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCATGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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Task1_train_14895
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This genomic variant is located on Chromosome 11, within the KCNQ1 (potassium voltage-gated channel subfamily Q member 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Congenital long QT syndrome
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCATGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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Task1_train_14896
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A variant found in Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Long QT syndrome 1
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCATGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGT
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Task1_train_14897
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A mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Long QT syndrome
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AAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACC
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AAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCACACACCTTCCCCAAGGGCCTCCCGTACACCCCGGCTGCCTGGGCGCTGGGCTCCAGCCTGCAGGTGGCCGCTGCACTTTAAGTGTCACAATGGGCTGCACTTCACATGAAAGCTGCATTTTGGCAATAAGTCCCCACCAAGCCCACTGAGCCTGGCCCTGCTGCATCCACACTATACAGCTGAGGAAACTGAGGCCCAGCTTTCCACTTCTGTGCCTAGGGGGTGGGATCCAGCTCCGAGGGTCTTCTTCCCACTCCTCCAGGAACCTCCGCCCTCTGGTGTCGGTGGAGTTGAGGAGGTGTTGGGGTGTGGAGGGGCCAGGTGACTCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCCCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACC
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Task1_train_14898
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A variant found in Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Long QT syndrome 1
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CCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAA
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CCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCAGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAA
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Task1_train_14899
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Given this variant in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Long QT syndrome
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CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAG
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CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCTGGGTGGGCCTGGCCTGAGAGCTGCAGCCTCACCTGGGCTCCACTGCCTATGGACATGAGCTGAAGCTGCTCAGCCTTCCAGGGCCTCTGTGCGCAGGCATCACCATCCGCAGCAGGCCAGGACCCGGGCCTGCTGTTCTCAGGGTGTCCTTCAGCGGAGGCTCCAGCATGGCTGGGTTCAAACAGGTTGCAGGGTCTGAAGCCACTCAAGGCCGAGCCTGCCTGCAGTGAGCGTCCCACTCTGTCCCTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGGGTGTATGCTCTTCCCTGGGGCCCTGGCTGTGGCGATCACGAAAAGCTCCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCGCCCCACCCCGAGCACCCCTCCTGAGCCGCGGGTGGTCTCACGCCCCATCCACCTTGCTCAGATGCAAGGTGCCTTGGTGCCCACTGCCCCCGGGGGCACTGAGCCATGTGCTGGGATGGGTGGAGCAGGGTGGGTGCAGGCAAGTGTGGAGGGCACGGCTCAACCCAAGATGCCTCAGGCAGCCCTAGGCTCTGGCCCAGCACTAGCGCCTCTGAACTTCCAGGACTTGGGTGGTAACCTGACCATCTGGGCACACAGCCTGCCCATCTGCAAACTGGGGTGACCCAAGGAGCCCCCCAGAAGGCAGTCTGGGGACTGAGGGAATCTGGAGGTACCTGGCCGACCCCCAGCTCAGCCCTGTGTGGGCAGATTCAGAGCAGGCTCTGGGGGGCTGCGCCTGAGAGGGAGATTCCCAGGCCCCTGTCGGGATGGACATATACCCAGCCTCCCCACCCAGAGTGGACGCCTGGGAGGGGCAGGGGCAGGGACACCCATGCCATCGGCCAGCCCTAGGCCCGGCGTGAACAGCTGAGCCCAGCCTGGCTCCCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCACTTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGGGGCCCAGGTTGGGGACAGGACGGAGGGAGCAGAGCAGCCCACACTAGGACAGCTTGAGATGCGCTGAGGCCCCGGGGGCCGGTGGGTGCCTGGGCGCAGGGGTACCTGAACGGGGCCCAGGATCTCAGAGCAAGCCCAAGCTTGAGCCCAGCCTGGATGCTCCACCCCAGCCTGGTGCCAGTGACCCTGGCCTGCCAGGCTGATGGTGTGCTCACCTTCCTCTGAGCTGGGGGCAAATGAAGACAGAAAGTCAGAAATGAAAAACCCAGGCAAATCAAGGACCCGGTCAAGGCAGGGCCACCAGACTCCCTCCCGAGGGCTGCACTCAGATGGGTTCAGGCTGCACTGGCCCCTGGCTCTGTGGGGTGAGGGGACCCTTCCTCTCCCTGAGGATCTCCTGGGTCCTGGTCCATTCTTGGTTCTGTCACGTGGCAGGAAAGAGAGCTGGGCAATCAGTGGAGCCCGCGCCGGCCCAGACAGTGGGCCTAGGGCGACCCCAGGGCTGAGCCTCATTCTGGGGGTAACCCCCACCCGCCACTTACCGGAGTTGTGAGGAGTGGGCTATATTGAAGCCGGCCCTGTGCATGTGAACCGCGCTGGAGCGGCGTAGGACGCCCAGTGATCGCTGGGACTCGCTGCCTTAGGCGTCTGCACAGGAGGCTCCCAGCCTGCGGTTCCTGGAGCCCGACACTGTGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGGGGACAGGGGCAGCTCAGGCTGAGGAGTGGGCAGGACATCTGGGCACTGGTGTCTTGAGACTTCGGGCCTTGGCAGGGGCTTCTCACCTGCACGCTCACAGGCCTCTGTCCACAAACCTGTGCTTGGAGCCGCTGGCACAGGTCCCCACGCTCAGTGTTGAGTCCTTTGGCATCACCATCTTGAAGTTCTGAATGGTCTCATCCTTGAACTTGAGATTTGAGAGGGAAATCGGAGGGGTCACTGGAGCGTGTGTTGGGGGCTTAGCGGTTTCGGCTCCCCCATGGCTCTGCCTCCCGCCATCGTCCTAGGTTGCCCATTCCCTGCCTCCACCGTGGCCCTCACCCTGGCAGGGCCCAAGGAGAGCGGCGTCAGATGCATACCTCGCGTGTCTCTGAGGGTCCACACAGGCCCTGTAAGTGCCCCTGTCCCCAAGGAGCCAGACATGAGACAGCAAACAGGAAAGACCATGATGGCTCAAGAGACCCCAGCAGAGATCAGAGAGCCCCCGTGTTTCCAGTGGATGCTGGGCCTGCAAGTTCTGGAGCCGGGCCTGGGCAGTGGCGACATAGGTGCAGCTGGGCCTAGGGAAGCAGGGACCCGGCCTGTGGGCCCAGAGGCTGCCCCTGGCTGTGAAGGTGGGTTCCGGCCACCTAGAGCAGCCCGGGAGCCTTGGGGAAGCCGGTGTGCAGCAGGCAGATCCCGCACTGGAACACCGAGCCACCCAAAGCTCAGAGAGGCTGTGCGGGAGGGGTGGGGCAGGGTGTCTTGGGCCGTGTCTGTGGGGGCTTCCTTGAGGGACTCAGGCTTGCACGTGGGAGAGGGAGATGTTCCGATGAGGATGCAGCTGCAGGAATCAGGGTGCGCCCTCCGAGCTGCAGGCTCCCCAAGTCCCAAGTCACTGGCCTGTGGGCCCAGCAGCAGTTTCTCATGGCTCAGAGGACGCTGGCTGAGGCATTTTTAGGGGGCAGGCCTAGCTTGCCAGTGTCCCTCTGGGAGCTGGTGGCTGCCTTCAAATCCTCCAGTGAAAGTCGGCGTTTATATATGCATGGAGCTCAAG
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Subsets and Splits
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