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_15700
|
A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGG
|
AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATTGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGG
|
Task1_train_15701
|
A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGG
|
AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATTGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGG
|
Task1_train_15702
|
With a mutation on Chromosome 11 in gene RAG1 (recombination activating 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGG
|
GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCAGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGG
|
Task1_train_15703
|
The gene RAG1 (recombination activating 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGG
|
GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCAGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGG
|
Task1_train_15704
|
This gene mutation involves RAG1 (recombination activating 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
|
GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGG
|
GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCAGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGG
|
Task1_train_15705
|
A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Severe combined immunodeficiency disease
|
GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGG
|
GAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCAGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGG
|
Task1_train_15706
|
The gene RAG1 (recombination activating 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCTGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
Task1_train_15707
|
This gene mutation involves RAG1 (recombination activating 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCTGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
Task1_train_15708
|
A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCTGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
Task1_train_15709
|
A mutation on Chromosome 11 affecting RAG1 (recombination activating 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCTGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
Task1_train_15710
|
Gene RAG1 (recombination activating 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Histiocytic medullary reticulosis
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCTGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
Task1_train_15711
|
Here is a variant affecting RAG1 (recombination activating 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCTGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
Task1_train_15712
|
Mutation context: Chromosome 11, Gene RAG1 (recombination activating 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
TTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCTGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTT
|
Task1_train_15713
|
With a mutation on Chromosome 11 in gene RAG1 (recombination activating 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Histiocytic medullary reticulosis
|
CTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGA
|
CTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTGCAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGA
|
Task1_train_15714
|
A change on Chromosome 11 affects gene RAG1 (recombination activating 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; RAG1-related disorder
|
TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTA
|
TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCACTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTA
|
Task1_train_15715
|
Located on Chromosome 11, this mutation impacts RAG1 (recombination activating 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTA
|
TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCACTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTA
|
Task1_train_15716
|
A mutation in RAG1 (recombination activating 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTA
|
TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCACTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTA
|
Task1_train_15717
|
Given this context: Chromosome 11, gene RAG1 (recombination activating 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
|
TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTA
|
TCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCACTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTA
|
Task1_train_15718
|
Located on Chromosome 11, this mutation impacts RAG1 (recombination activating 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
|
CATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTAT
|
CATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCCGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTAT
|
Task1_train_15719
|
This alteration occurs within gene RAG1 (recombination activating 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGGAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
Task1_train_15720
|
A variant has been detected on Chromosome 11 in RAG1 (recombination activating 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGGAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
Task1_train_15721
|
A variant was discovered in gene RAG1 (recombination activating 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGGAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
Task1_train_15722
|
This alteration occurs within gene RAG1 (recombination activating 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGGAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
Task1_train_15723
|
The gene RAG1 (recombination activating 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGGAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
Task1_train_15724
|
Here is a mutation in RAG1 (recombination activating 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGGAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
Task1_train_15725
|
This sequence variant lies in RAG1 (recombination activating 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Histiocytic medullary reticulosis
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
AGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGGAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGGGTTTAAATGATTTGCTCAAAGTCATTTAGGGGTAATAAATACTTGGCTTGGAAATTTAACACAGTCCTTTTGTCTCCAAAGCCCTTCTTCTTTCCACCACAAATTAATCACTATGTTTATAAGGTAGTATCAGAATTTTTTTAGGATTCACAACTAATCACTATAGCACATGACCTTGGGATTACATTTTTATGGGGCAGGGGTAAGCAAGTTTTTAAATCATTTGTGTGCTCTGGCTCTTTTGATAGAAGAAAGCAACACAAAAGCTCCAAAGGGCCCCCTAACCCTCTTGTGGCTCCAGTTATTTGGAAACTATGATCTGCATCCTTAGGAATCTGGGATTTGCCAGTTGCTGGCAATGTAGAGCAGGCATGGAATTTTATATGCTAGTGAGTCATAATGATATGTTAGTGTTAATTAGTTTTTTCTTCCTTTGATTTTATTGGCCATAATTGCTACTCTTCATACACAGTATATCAAAGAGCTTGATAATTTAGTTGTCAAAAGTGCATCGGCGACATTATCTTTAATTGTATGTATTTGGTGCTTCTTCAGGGATTGAACTCAGTATCTTTCATTAAAAAACACAGCAGTTTTCCTTGCTTTTTATATGCAGAATATCAAAGTCATTTCTAATTTAGT
|
Task1_train_15726
|
A variant found in Chromosome 11 affects RAG2 (recombination activating 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
TGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTAT
|
TGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCTACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTAT
|
Task1_train_15727
|
This mutation is located in gene RAG2 (recombination activating 2) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
TGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTAT
|
TGTTTCCCGTAAATTTGTTAGTTGTACCTTACACACTGTAGACTTTCAGTGAGGAGTAAGAGTCTTCACTGTAACTGTGGCTGAAGCTCTTAAGATAAGGTTTTTCCAGAAAATTTTTTTTTCCGGAAAATATTTCAGGAGGAAAGACATTTGTTTCTAAGGTCATCTAGTTATCAACTGATGTCTTGAACCCTTAAAATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCTACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTAT
|
Task1_train_15728
|
A genomic change on Chromosome 11 affects RAG2 (recombination activating 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Common variable immunodeficiency
|
AATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCT
|
AATTAACAGTCATTTTAACTAGTTTCATCCTAGCGAGTGTCTAATTAGACCTTGGCAAGATCACTGATTTTATAATATTCACTGGCAGCAATCTCCACATGTTAACTACACACACACACACACACACACACACACTCACACAAATACATTTCTTTTCCTCCATTTAAATCTTCTGCCTGTAAATGTCATGAAATTCTTTAAACTTACATTATTTTGGGAAATAATATTATTCTTCTCCATGAGATTTATTTGGTGGTCCTTTCTTATTGTATTCTTACTCACTTCCTTTTTCCAGAGTACTAAGTAGCAATGGGCTCCAGTTTTCCATGAAAATTCTCACAAATAATTAGTTCAAATGACTGACTTTGGCACATCATTCATGCATCATATAATGGGGAGGGGAAATCCTTAAAGAAAATGCATACAAGTAATTCAGGAAAACATGTCAAACTTGATGTAGATTATTTATTTCTTCTTTTGTGTCAGTGGAGAACATTATCTATCTATATGTATACATATATTTATATTTATATCTACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAGTAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCT
|
Task1_train_15729
|
A variant affecting Chromosome 11, within the gene RAG2 (recombination activating 2), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; not specified
|
TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTGATAAGGTTGGAGAGGATGAGAAGGGGCTTTAGGATATGGGAATCAGGTCAGTGGGTATAGACAGATAAACATTTGAACTAAAAGAATTGGATAAACATATATGATGAGGGTGCTGGTAGTAGTTAATTTATTAACAGAAGATAGTTAATATTTTATTCTTCTTGTCACCCTTTGTCTAACTGGGGATAATCTTGGTATATATTCACTGGGCTGTTTTGAGAAATAAATGGGATAGCACGTGTAAATCACATAGAACAGTGCCTGGCACATAAACACTCAATAAATGTTAATTGA
|
TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTTCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTGATAAGGTTGGAGAGGATGAGAAGGGGCTTTAGGATATGGGAATCAGGTCAGTGGGTATAGACAGATAAACATTTGAACTAAAAGAATTGGATAAACATATATGATGAGGGTGCTGGTAGTAGTTAATTTATTAACAGAAGATAGTTAATATTTTATTCTTCTTGTCACCCTTTGTCTAACTGGGGATAATCTTGGTATATATTCACTGGGCTGTTTTGAGAAATAAATGGGATAGCACGTGTAAATCACATAGAACAGTGCCTGGCACATAAACACTCAATAAATGTTAATTGA
|
Task1_train_15730
|
The gene RAG2 (recombination activating 2) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTGATAAGGTTGGAGAGGATGAGAAGGGGCTTTAGGATATGGGAATCAGGTCAGTGGGTATAGACAGATAAACATTTGAACTAAAAGAATTGGATAAACATATATGATGAGGGTGCTGGTAGTAGTTAATTTATTAACAGAAGATAGTTAATATTTTATTCTTCTTGTCACCCTTTGTCTAACTGGGGATAATCTTGGTATATATTCACTGGGCTGTTTTGAGAAATAAATGGGATAGCACGTGTAAATCACATAGAACAGTGCCTGGCACATAAACACTCAATAAATGTTAATTGA
|
TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTTCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTGATAAGGTTGGAGAGGATGAGAAGGGGCTTTAGGATATGGGAATCAGGTCAGTGGGTATAGACAGATAAACATTTGAACTAAAAGAATTGGATAAACATATATGATGAGGGTGCTGGTAGTAGTTAATTTATTAACAGAAGATAGTTAATATTTTATTCTTCTTGTCACCCTTTGTCTAACTGGGGATAATCTTGGTATATATTCACTGGGCTGTTTTGAGAAATAAATGGGATAGCACGTGTAAATCACATAGAACAGTGCCTGGCACATAAACACTCAATAAATGTTAATTGA
|
Task1_train_15731
|
A change on Chromosome 11 affects gene RAG2 (recombination activating 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTGATAAGGTTGGAGAGGATGAGAAGGGGCTTTAGGATATGGGAATCAGGTCAGTGGGTATAGACAGATAAACATTTGAACTAAAAGAATTGGATAAACATATATGATGAGGGTGCTGGTAGTAGTTAATTTATTAACAGAAGATAGTTAATATTTTATTCTTCTTGTCACCCTTTGTCTAACTGGGGATAATCTTGGTATATATTCACTGGGCTGTTTTGAGAAATAAATGGGATAGCACGTGTAAATCACATAGAACAGTGCCTGGCACATAAACACTCAATAAATGTTAATTGA
|
TACATCTGTAAAGCTATGAGAAACTAACTTGTTCATGGGCATAATCCAAAGGGTTGCTTGAAGGTATATAAAGAACACTAATGTGGGATGTAGTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTTCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTGATAAGGTTGGAGAGGATGAGAAGGGGCTTTAGGATATGGGAATCAGGTCAGTGGGTATAGACAGATAAACATTTGAACTAAAAGAATTGGATAAACATATATGATGAGGGTGCTGGTAGTAGTTAATTTATTAACAGAAGATAGTTAATATTTTATTCTTCTTGTCACCCTTTGTCTAACTGGGGATAATCTTGGTATATATTCACTGGGCTGTTTTGAGAAATAAATGGGATAGCACGTGTAAATCACATAGAACAGTGCCTGGCACATAAACACTCAATAAATGTTAATTGA
|
Task1_train_15732
|
Here is a genetic alteration in RAG2 (recombination activating 2) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Recombinase activating gene 2 deficiency
|
GTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGACATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTGATAAGGTTGGAGAGGATGAGAAGGGGCTTTAGGATATGGGAATCAGGTCAGTGGGTATAGACAGATAAACATTTGAACTAAAAGAATTGGATAAACATATATGATGAGGGTGCTGGTAGTAGTTAATTTATTAACAGAAGATAGTTAATATTTTATTCTTCTTGTCACCCTTTGTCTAACTGGGGATAATCTTGGTATATATTCACTGGGCTGTTTTGAGAAATAAATGGGATAGCACGTGTAAATCACATAGAACAGTGCCTGGCACATAAACACTCAATAAATGTTAATTGATACTATAATTTATCTAATTTATCTTTATTCCTCCTGCAAAGATTCCTTGGACTATTTAGAATCTCTGGTCACTCTAATGAGATGGTAGTGTT
|
GTAGATCTTGCTTTTAAGTTTTGGCCAACTGCCGAATTGTTATGTTGCACAAAATAATCAATTTAATTCTTTTGGGTGTTAATTTCTTTATTGGCTAAATTTGTCATAAACACTTTATAGGTTATTTGTTACCAAGACTTATATAATAAATATAAACATACCTCGATGATTATTACTGCTTCTGGGTGTTTAAGGTTTGTTGAATAAAAAATCAGATCAGAAATCCTCAGTGAAGAATAAATTAGTAAATTGAGTATTTGGGTAAAATATTTTCAAAATGTATAGGGTCTAGAATGACTTTATTTATCATTGCATTATAAACACTTTTTTCTGGCCCTTAATTCATGTAACTAAAAGAAAACATAGGCATTTTAAATAAACAAAAATGTATTTTTAAAATCAATGTTATGATTTTAAAAATAGATTCAAAAATTCCATACACCTGAATCTGAAAGGCTTTTGCAAAACTAATCAAACAACCTTCTAAGAAAGGATTTCTTGGCAGGAGTCAAGATTTTTCCAGAACCTTTTTTACGGAGGGATTTCATTGGAGGCTTTTTTAAGGGTAGGACTCTTTGGGGAGTGTGTAGAGCTCTTGCTATCTCCACATGCTCATTGCAGTAATACTTGTTGCTTCCTGCTGACAGATGGATGAGTGTGCGTTCTGCCAGATCCATGCACTGAGCATGGACCCAGTGCCCATCCCCATGAGAGCAGTAGATCATGGCGGGTTTGTTGAGCTCAGTTGAATAGAATGGTACCCAAGTGTTGATATCCACATCACAAGTAGGGCAGCATGTAATCCAGTAGCCTGTCTCAGACTCATCTTCTTCATCATCTTCATTATAGGTGTCAAATTCATCATCACCATCAAAACTATTTGCTTCTGCACTGAAACAAAATTCTTCAGAGTCTTCAAAGGGAGTGGAATCCCCTGGATCTTCTGTTGATGTTTGACTGTTTGTGAATGTTGTCTGCTCTTCATTAGTATCATCTTCAGCACATTTCAACATATAGAAATAGAATCCTTCTGAAACAACTTGTTTATTGTCTCCTGGTATGCCAAGAAAAACAGTTCCATTTCCCATGTTGCTTCCAAACCATATCTTGCTGTGCTTAATGTCTGGGGTCCAATCTGGGGTCTCCATCTCACGAATTTCTATCTTGTTGTCCTCTAAAGAGATGATGTTGCAGATCATTCTTTTTTGATTTTCAAGCTGATAGCCACCAACAATAACAAATTCATCATTGTTAGTTTGAGTCAGGATTGCACTGGAGACAGAGATTCCTCCTGGCAAGACTGTGCAATTCACAGCTGGGCTACCCAGGGGAAGATCAACCCTTATTCTGTACAGGTTGGCAGGCCGGATATTATTGGCAAGTGAATGTCCTCCTAAAATATAGATGGTGTCATTTTTGGCAATAGAGACATGAAAAGATAGCCCATCCTGAAGTTCTGGAAGAATGTATGATGTAGCACACCCAAATTCAAAATCCACCAGGAAAACACAGGGCAGGCAGTCAGCTACACTATTCCATTTTTCTGTGGTTCTGTGGGTAGAAGGCATGTATGAGCGTCCTCCAAAGAGAACACCCATACTTTTCCCTCGGCTGTACACCACATTAATGGAATGACCATATCTGGCTTCAGGAACATCTCCTACCAAGTCTTTCTCTGTGCAGCGAAAAGTAACCTTTTTGTTGTTCTTGCAAACAATAGACATGACATAAATCTTATCTGAAACCTCATTGTTTGGTGTTTTCCCTCCATGGATGATGTATTGATGCTTTTCAGACTCCAAGCTGCCTTTGAATGTGCAAGTGGCTGGGTAGCGAAGAGGAGGGAGGTAGCAGGAATCCTTAGAGAAAATTGTAGGCTTCAGTTTGACATGGTTATGCTTTACATCCAGATGGAAAACTCCAGTGGGGCAGGATCTTTTGGGCCAGCCTTTTTGTCCAAAGAAGAAAACTTGTCCATCAAAATTCATCAGTGAGAAGCCTGGCTGAATTAAGGCTATGTTATTACTGACTGTTACCATCTGCAGAGATATAGTTTCTGATGGTACGTAGATTTTTGTCTGAAAGAATTATAAAATAAAATGACTTAGAGATCGCTTCATATAATCATCGTATTTAGATTCCTTCACATGTGAATAGCATTTTTTTAAGTCCTCCCACACGCTTGCAGTGGGACTGAATGAGGAAAATCCAAGGAGTTAGGTCAGTAAAGAGCCACAGAACCTTTACTGCCATTCCATCCAAGGAGCTGGGACATGTTTTAGCCACGGACTATATGCTCCCTAGGATTTCTGGGAATTGTAGTCCTTTTCCGTAAAGAGTCACCATGCGTCAGCTGAAAGAACCACATTTCCCAAGAATCCGTTCTCTCTGGGATGTGTAGCTTTGGAAATCTGTCTTTGTTGCTCTGGGAGAGGGGACTCCTGGAATGTGTCTGTGAATAAAGACTAGCCGAAGGTGCGAAGTGACTAGACGGGAGCAAAGGAGGAAAACTAGGGAATGGGAGGTGAGAGTGGCTGACACCGACCCAACGTCCGGGTTGCCGGAAGGCTGCAGCGCCCGGAGCGGTGTCGGGCAAACCGCTACCCTGGTATTGCTGGAGCCTCTCCTGGGGACTTTTGAACAGGTGACCCGATAGGAAGCACAACTGCTTCTGTTGGAGTGCGGTTACCTGGAGACCGCAGTCTGAAGGGACTCCCGGCAGAGATGTCGTTACGGTGTCCTGCCTGTCTGGATGCTTAGGAGCGCGACTCAAAACTACACCCCTGACGACCCTGGAGGTGCTTGGGGCGGGAGGTTGAAGGGGGCACCGAGGTTACAAAAGCCGTGACTGTCTTACAGAACCGAAAGATGGATCTTTGAATCCCTAGAGTGCAGGGGAGACATTGCCTGTTAAAGATGTTTACCACTTCTACATTTAGTAATAGAAATACAGTTATTAGGTTTTAACGAGTGCACTTTGAAGGTCCTTTGTTTTCTTCACTGTTTTTACTCCTGTTTTTAGGGTTCTTTTAGGGAAGCAGAGAAGGTTCCTAAACACATCTTCTTTTCATCTTCATTCTAGGAAAATAGAGTTAGTGGCTTTTTCACATCTTTCCAGTCCAAGAACTTTTGGGTAATTCTTTAATAATTCTGTAGTAAGTAAGCAGGGACTAAGCATAGAAGTGTTTGAATTATTCAGAATTTCATACTTGTGTTACAACAAAAAGAATATTTACTAGATGAAGGAAGCTTGATAAATTTCTATTTTATTATTGTTTACCTTAGAGAGTTGTGGAATACACTCCGTGTTTGCAGTGTGATGTCCTGTGCACCAAATGTTAAAGGAAACAAAACATAGCACAGATTTCTTGACTTTTAAGAGTTAATTCTTAATATGCTTCAAAAGCAGTATAAACAATGGCTGAGTGTGGACTCTGAATGCTTACTGGCTGGATTCAAATCCTGGCTCTGCCACTAACTACATGACTTTGGGCAAGTTATGTAACCTCTGTGTGCCTCAGTTTCCTCATCTGAAAACTGAGATAATAATTTTACCAACCTCATATATTGATGTCAGTTATGATTAATAGTTGAATATACGTAAAGTACTTAGAACAGGGATTTGCATATAGTAGACGATAGTTATGATTATTTTAAAATTTACCAAAAATAAGGTCTAGTGCATACGCACCTGCCAGTAATGGCAGTTGATAAGGTTGGAGAGGATGAGAAGGGGCTTTAGGATATGGGAATCAGGTCAGTGGGTATAGACAGATAAACATTTGAACTAAAAGAATTGGATAAACATATATGATGAGGGTGCTGGTAGTAGTTAATTTATTAACAGAAGATAGTTAATATTTTATTCTTCTTGTCACCCTTTGTCTAACTGGGGATAATCTTGGTATATATTCACTGGGCTGTTTTGAGAAATAAATGGGATAGCACGTGTAAATCACATAGAACAGTGCCTGGCACATAAACACTCAATAAATGTTAATTGATACTATAATTTATCTAATTTATCTTTATTCCTCCTGCAAAGATTCCTTGGACTATTTAGAATCTCTGGTCACTCTAATGAGATGGTAGTGTT
|
Task1_train_15733
|
This alteration occurs within gene EXT2 (exostosin glycosyltransferase 2) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Exostoses, multiple, type 2
|
AGCAGGAGGAGAACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCTGTAAAGCAAGGGATGCTTACAATATTTTCTCCATTATAATGTAATGGAGACCTTGGCAGAAGAAGATACAGTGCCTTAGAGTGCATGCCAGTAGCAGGGCTGGCATGAGGCCAGTTTGACTAATTGCAGTCGTGGCTCTTTTTGAGATGACAAACAGACTGCATGTGGATGATCTTCAGCGTAAGGCATGCTTCTGATTGCTGCTTTCCTACTGCCAGTGCTGAACATTCACCTTAACCCCCCTGGAACAGAATAACAAGTTTGGGGCCCCGGGGACAGAATAACAGTAAAGGTTGATGTGATATACAACTGCTTCCTTTCTCTGCACATACACACCCACTTCTCCTCTGGGGCTGTGAGTGTAATAGCCTAATCACCCACGACCCTGGCTTACCTGGACTGCCTGGTGCCTGAATATTGCATCCATGTCTGCTTCTCTGCACATAGGCCATGGGGCCCATAGAGTCTGCTTGCCATCATGGTCATGGAACCTGCCCAAGTTCATGTTGGATGGTTTCAGTGCTGCATGATAATCAGGAAAAATAAGACCGTATGTTGGTACTAAGGATAGTTATTACATTTTACAGAGTAGACCGGCAGCTGGAGAAGTTTTTAGCCTGCAGGTTACCTCACTCACCAGTTCTTGGTTTCATAAAGCTTAAACAAACAGAGTGGGATTTCCAGGGGTGGTTTGAAAATCTTTGAACCTAAACTGGTCATGTTAGAAGGGAATGTAGGTTGTCATCAGGGCAGGGAGGGGATTGGTAGCAATCAATATTGCAAAAAATGTGGTTTCTCAGTTGAGACATCTTGGCTCAGACTTTGTAGTGTGTGTTGCCCTAGAAAGTGATTTCGATGGGTTTGGGGTCCTGGGAGAGAATAACAGTAAAAGTTGGTGTGATATACACCTGCTTCCTTTCTCTGATGAAGTGTCATTGTACTACTTGCTGGATCCAGTTAAAACAATGTGGTCACTGTTTTCTAATTAAGGAGAGTAACGGCTAGTACAAGCAAACTGCAAGAGAAGCACTGAGGGTTTAATTCTAGGTTCTGCTTCCTGTATAGGGAATTGGGTTAATAAGACTAAGTAGCTGGAATGGACAGTGAGAGCCGGTGGAGGCTACATGATTGACATGTAACTCTGAGATGATGGTGGAAAGAACTGCTTGAGGCAGGGATTGGAGAGAGGCTGGGGTGTAAGCGATGTGAAATGTGATACTTTCTGGCCACCACTGCTTTCCAGGACCATTGTGTTCTGAGATTCTAGCCAGTGGTTGGTAAATGACTTCCCCAACCAGTCTTCCCATGCAGAACTGTTACTCCTGTTATTGTAAATGTGTTTATTTATAAAGTATGACTAGGGAGAGGTGAATGGGATCTGAGGGAGGTAGCAGAGAGGCTGTCCGTAAGGTGTCCTCTGGACTATGATGTGTTTCAAAAACTGGGAAGTAAGGAAAGGGTATTTAGGACCCCGGGGGAAGGCTGGTGATTCAAGGATAGAACGCAGCTGATGGCCCCGAGATGCGTGTATAAGGCATTGTCTTTATAGAAAACTGACTCTGTAAACGTTAGCTGGTTTTGATAATAAAGACTCAGTAATTCCTGTTCCTCTCCACAGTGTGTATCAGAATAAAGTCCTTTCTTTCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCCTTTACTGAATCTGTGAGATGTTGATGAGGTTTAGTGTGGTGGGCATCAAAGCAACCAATACATCAGTTACAGGGTAGGGTCCTTGAGGCACTGAGGCACCCATCTTTCCCACCTCCATGCAGTCTCATTCATCTTGCAGTTTTCTCTGTCTCCTTAAATTCACAGTGCTGTCTACCAAGTTTTCTAAGCCAGGAATCCATGTGGTATCCTTAACTCCGTTCTCTCCTTTGTTTCCTATATCAAAGTAGGAAGTCGTATTGATTCTGCATCCTAAATACTTCCTAGGTCTGTCTGCTCCCCGAATCCTCCTCCTCTACCCTAGACCAGGTTACTGTCATCTCTCCATTGGATTGCTGAAACGGCTTCCTATGTGGTTTCCCTGCCTCTGGTCTTGCTCCCCTCGAGTTTGATCCTTGGCTTCACATTGCCCTTAGGATAAGATTCACGTTAGTCCTTAGCCCACAGTCCCTAAAACATCTTTCAAGGCTCTCTTTCATCTGACCACTATCTCCATCTTTAGCTTTGTGTCTGAGAACTTTTTACTTCTTTCAGTTCCTAGAACAAGCTGTGCTCTCTCAGTTTTTCTGGGCAGCAGACACATTCTCTACTGTCTGCAGACCTTCTTCCTCGTCTTCATTAGTCTAACATCCTGCTTGTGCCTTAGGTTTCAGCTTGAAACCACCTTCTGGGATGGGGTGGAGGGGGTACCTTCTTGGCCTCTGCCCTGGCTCCTCTGCTTTATGCTCCCATAGCAGCCTGCACGTCTCTTAGAGTGATGCCCATCGCTGCACACATGATGCCCATCGTGATGACTTGCTCAAAGCCTGTCTTGTTTGGATTTTGGATTTTGTACGTGCAGTGAAGCTGAGGTTAGGTTTTTGTTTTTGCTTTGTTTTGCTTTTTTAAGTGACAGAGTCTTGCTATGTTGCCCAGGCTAGATTCAAATTGTTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAGTAACAGGAACTGTAGGCCCATGCCACTGCATCCAGCTGTTTTTTTAAACTACCATATCTTCAGTGTCTGGCATTTCTTGGCTCATATTTTAGTATGTGAGGGAGTAAATGAAAAGGGCTGACAACATGAATGTGCAGCATGGATGTAACCTTTTTTTTTCTGTAGTCTATGTAAAAATTGTGCTATTTCCTGGTGAGAATCTCAGTGAGCTTTAAACAAACATGATAATAAAAGCATCCTTTACTTGTGTGGAAGTGCTCAGAAGCAGAGGTGACCAATAGATAAATTTTGACACTAAAAATGTTGTATTTGGTTTGAGAAATGGGTCTCATGGAAATAGTTTGCCTGGAGACCATTAGAACCATTCTTTAAATATTTCAGACATCTCCTTAGAAACCTTTGTGGACTCTGAGAAGTAAGAGAACTTTTCTCAGGAGAAGACATCTCTCTCCTGTTTGTGTTCTACCATGTGGCCCGGGACCAAATTCTGAAACTTACATTAGCCATTCACTTAGCAAATTTTGTTATGTAGACGATGTGTAAAGCCCAGGTGAGCTTGAGACATTTTTGTTCCTACCCTTAGGCAAATGCGGAGCAAGACTGAGTGGTTCATGAAGTTGTTGCTTAGGACATCTTCCTGGATTTTTCTCCCTTTGTGGACTCCCAGAGTTGACTTATTTTATTTTATGTTTAAAATTGAGATTAATTTATATACCATAAAATTTACTCTTTTAATGTGTATAATTTAACGGTTTTTAGTATATTCACAAAATTGTGCAACTATCATCAGGCCTACTACCTAATTCTAGAACATTTTCATGACTCCACAAATAAACCTAATATCCAATAGCAGTCAGTCCTCACCTCTGTCCCCAGCAAGAATCCTTAATCTGCTTTTTCTCTCTATGGGTTTGCCTATTCTGGACATTTCCTATCAACATAATTGTACAATAAAT
|
AGCAGGAGGAGAACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCTGTAAAGCAAGGGATGCTTACAATATTTTCTCCATTATAATGTAATGGAGACCTTGGCAGAAGAAGATACAGTGCCTTAGAGTGCATGCCAGTAGCAGGGCTGGCATGAGGCCAGTTTGACTAATTGCAGTCGTGGCTCTTTTTGAGATGACAAACAGACTGCATGTGGATGATCTTCAGCGTAAGGCATGCTTCTGATTGCTGCTTTCCTACTGCCAGTGCTGAACATTCACCTTAACCCCCCTGGAACAGAATAACAAGTTTGGGGCCCCGGGGACAGAATAACAGTAAAGGTTGATGTGATATACAACTGCTTCCTTTCTCTGCACATACACACCCACTTCTCCTCTGGGGCTGTGAGTGTAATAGCCTAATCACCCACGACCCTGGCTTACCTGGACTGCCTGGTGCCTGAATATTGCATCCATGTCTGCTTCTCTGCACATAGGCCATGGGGCCCATAGAGTCTGCTTGCCATCATGGTCATGGAACCTGCCCAAGTTCATGTTGGATGGTTTCAGTGCTGCATGATAATCAGGAAAAATAAGACCGTATGTTGGTACTAAGGATAGTTATTACATTTTACAGAGTAGACCGGCAGCTGGAGAAGTTTTTAGCCTGCAGGTTACCTCACTCACCAGTTCTTGGTTTCATAAAGCTTAAACAAACAGAGTGGGATTTCCAGGGGTGGTTTGAAAATCTTTGAACCTAAACTGGTCATGTTAGAAGGGAATGTAGGTTGTCATCAGGGCAGGGAGGGGATTGGTAGCAATCAATATTGCAAAAAATGTGGTTTCTCAGTTGAGACATCTTGGCTCAGACTTTGTAGTGTGTGTTGCCCTAGAAAGTGATTTCGATGGGTTTGGGGTCCTGGGAGAGAATAACAGTAAAAGTTGGTGTGATATACACCTGCTTCCTTTCTCTGATGAAGTGTCATTGTACTACTTGCTGGATCCAGTTAAAACAATGTGGTCACTGTTTTCTAATTAAGGAGAGTAACGGCTAGTACAAGCAAACTGCAAGAGAAGCACTGAGGGTTTAATTCTAGGTTCTGCTTCCTGTATAGGGAATTGGGTTAATAAGACTAAGTAGCTGGAATGGACAGTGAGAGCCGGTGGAGGCTACATGATTGACATGTAACTCTGAGATGATGGTGGAAAGAACTGCTTGAGGCAGGGATTGGAGAGAGGCTGGGGTGTAAGCGATGTGAAATGTGATACTTTCTGGCCACCACTGCTTTCCAGGACCATTGTGTTCTGAGATTCTAGCCAGTGGTTGGTAAATGACTTCCCCAACCAGTCTTCCCATGCAGAACTGTTACTCCTGTTATTGTAAATGTGTTTATTTATAAAGTATGACTAGGGAGAGGTGAATGGGATCTGAGGGAGGTAGCAGAGAGGCTGTCCGTAAGGTGTCCTCTGGACTATGATGTGTTTCAAAAACTGGGAAGTAAGGAAAGGGTATTTAGGACCCCGGGGGAAGGCTGGTGATTCAAGGATAGAACGCAGCTGATGGCCCCGAGATGCGTGTATAAGGCATTGTCTTTATAGAAAACTGACTCTGTAAACGTTAGCTGGTTTTGATAATAAAGACTCAGTAATTCCTGTTCCTCTCCACAGTGTGTATCAGAATAAAGTCCTTTCTTTCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCCGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCCTTTACTGAATCTGTGAGATGTTGATGAGGTTTAGTGTGGTGGGCATCAAAGCAACCAATACATCAGTTACAGGGTAGGGTCCTTGAGGCACTGAGGCACCCATCTTTCCCACCTCCATGCAGTCTCATTCATCTTGCAGTTTTCTCTGTCTCCTTAAATTCACAGTGCTGTCTACCAAGTTTTCTAAGCCAGGAATCCATGTGGTATCCTTAACTCCGTTCTCTCCTTTGTTTCCTATATCAAAGTAGGAAGTCGTATTGATTCTGCATCCTAAATACTTCCTAGGTCTGTCTGCTCCCCGAATCCTCCTCCTCTACCCTAGACCAGGTTACTGTCATCTCTCCATTGGATTGCTGAAACGGCTTCCTATGTGGTTTCCCTGCCTCTGGTCTTGCTCCCCTCGAGTTTGATCCTTGGCTTCACATTGCCCTTAGGATAAGATTCACGTTAGTCCTTAGCCCACAGTCCCTAAAACATCTTTCAAGGCTCTCTTTCATCTGACCACTATCTCCATCTTTAGCTTTGTGTCTGAGAACTTTTTACTTCTTTCAGTTCCTAGAACAAGCTGTGCTCTCTCAGTTTTTCTGGGCAGCAGACACATTCTCTACTGTCTGCAGACCTTCTTCCTCGTCTTCATTAGTCTAACATCCTGCTTGTGCCTTAGGTTTCAGCTTGAAACCACCTTCTGGGATGGGGTGGAGGGGGTACCTTCTTGGCCTCTGCCCTGGCTCCTCTGCTTTATGCTCCCATAGCAGCCTGCACGTCTCTTAGAGTGATGCCCATCGCTGCACACATGATGCCCATCGTGATGACTTGCTCAAAGCCTGTCTTGTTTGGATTTTGGATTTTGTACGTGCAGTGAAGCTGAGGTTAGGTTTTTGTTTTTGCTTTGTTTTGCTTTTTTAAGTGACAGAGTCTTGCTATGTTGCCCAGGCTAGATTCAAATTGTTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAGTAACAGGAACTGTAGGCCCATGCCACTGCATCCAGCTGTTTTTTTAAACTACCATATCTTCAGTGTCTGGCATTTCTTGGCTCATATTTTAGTATGTGAGGGAGTAAATGAAAAGGGCTGACAACATGAATGTGCAGCATGGATGTAACCTTTTTTTTTCTGTAGTCTATGTAAAAATTGTGCTATTTCCTGGTGAGAATCTCAGTGAGCTTTAAACAAACATGATAATAAAAGCATCCTTTACTTGTGTGGAAGTGCTCAGAAGCAGAGGTGACCAATAGATAAATTTTGACACTAAAAATGTTGTATTTGGTTTGAGAAATGGGTCTCATGGAAATAGTTTGCCTGGAGACCATTAGAACCATTCTTTAAATATTTCAGACATCTCCTTAGAAACCTTTGTGGACTCTGAGAAGTAAGAGAACTTTTCTCAGGAGAAGACATCTCTCTCCTGTTTGTGTTCTACCATGTGGCCCGGGACCAAATTCTGAAACTTACATTAGCCATTCACTTAGCAAATTTTGTTATGTAGACGATGTGTAAAGCCCAGGTGAGCTTGAGACATTTTTGTTCCTACCCTTAGGCAAATGCGGAGCAAGACTGAGTGGTTCATGAAGTTGTTGCTTAGGACATCTTCCTGGATTTTTCTCCCTTTGTGGACTCCCAGAGTTGACTTATTTTATTTTATGTTTAAAATTGAGATTAATTTATATACCATAAAATTTACTCTTTTAATGTGTATAATTTAACGGTTTTTAGTATATTCACAAAATTGTGCAACTATCATCAGGCCTACTACCTAATTCTAGAACATTTTCATGACTCCACAAATAAACCTAATATCCAATAGCAGTCAGTCCTCACCTCTGTCCCCAGCAAGAATCCTTAATCTGCTTTTTCTCTCTATGGGTTTGCCTATTCTGGACATTTCCTATCAACATAATTGTACAATAAAT
|
Task1_train_15734
|
The gene EXT2 (exostosin glycosyltransferase 2) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Exostoses, multiple, type 2
|
AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCTGTAAAGCAAGGGATGCTTACAATATTTTCTCCATTATAATGTAATGGAGACCTTGGCAGAAGAAGATACAGTGCCTTAGAGTGCATGCCAGTAGCAGGGCTGGCATGAGGCCAGTTTGACTAATTGCAGTCGTGGCTCTTTTTGAGATGACAAACAGACTGCATGTGGATGATCTTCAGCGTAAGGCATGCTTCTGATTGCTGCTTTCCTACTGCCAGTGCTGAACATTCACCTTAACCCCCCTGGAACAGAATAACAAGTTTGGGGCCCCGGGGACAGAATAACAGTAAAGGTTGATGTGATATACAACTGCTTCCTTTCTCTGCACATACACACCCACTTCTCCTCTGGGGCTGTGAGTGTAATAGCCTAATCACCCACGACCCTGGCTTACCTGGACTGCCTGGTGCCTGAATATTGCATCCATGTCTGCTTCTCTGCACATAGGCCATGGGGCCCATAGAGTCTGCTTGCCATCATGGTCATGGAACCTGCCCAAGTTCATGTTGGATGGTTTCAGTGCTGCATGATAATCAGGAAAAATAAGACCGTATGTTGGTACTAAGGATAGTTATTACATTTTACAGAGTAGACCGGCAGCTGGAGAAGTTTTTAGCCTGCAGGTTACCTCACTCACCAGTTCTTGGTTTCATAAAGCTTAAACAAACAGAGTGGGATTTCCAGGGGTGGTTTGAAAATCTTTGAACCTAAACTGGTCATGTTAGAAGGGAATGTAGGTTGTCATCAGGGCAGGGAGGGGATTGGTAGCAATCAATATTGCAAAAAATGTGGTTTCTCAGTTGAGACATCTTGGCTCAGACTTTGTAGTGTGTGTTGCCCTAGAAAGTGATTTCGATGGGTTTGGGGTCCTGGGAGAGAATAACAGTAAAAGTTGGTGTGATATACACCTGCTTCCTTTCTCTGATGAAGTGTCATTGTACTACTTGCTGGATCCAGTTAAAACAATGTGGTCACTGTTTTCTAATTAAGGAGAGTAACGGCTAGTACAAGCAAACTGCAAGAGAAGCACTGAGGGTTTAATTCTAGGTTCTGCTTCCTGTATAGGGAATTGGGTTAATAAGACTAAGTAGCTGGAATGGACAGTGAGAGCCGGTGGAGGCTACATGATTGACATGTAACTCTGAGATGATGGTGGAAAGAACTGCTTGAGGCAGGGATTGGAGAGAGGCTGGGGTGTAAGCGATGTGAAATGTGATACTTTCTGGCCACCACTGCTTTCCAGGACCATTGTGTTCTGAGATTCTAGCCAGTGGTTGGTAAATGACTTCCCCAACCAGTCTTCCCATGCAGAACTGTTACTCCTGTTATTGTAAATGTGTTTATTTATAAAGTATGACTAGGGAGAGGTGAATGGGATCTGAGGGAGGTAGCAGAGAGGCTGTCCGTAAGGTGTCCTCTGGACTATGATGTGTTTCAAAAACTGGGAAGTAAGGAAAGGGTATTTAGGACCCCGGGGGAAGGCTGGTGATTCAAGGATAGAACGCAGCTGATGGCCCCGAGATGCGTGTATAAGGCATTGTCTTTATAGAAAACTGACTCTGTAAACGTTAGCTGGTTTTGATAATAAAGACTCAGTAATTCCTGTTCCTCTCCACAGTGTGTATCAGAATAAAGTCCTTTCTTTCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCCTTTACTGAATCTGTGAGATGTTGATGAGGTTTAGTGTGGTGGGCATCAAAGCAACCAATACATCAGTTACAGGGTAGGGTCCTTGAGGCACTGAGGCACCCATCTTTCCCACCTCCATGCAGTCTCATTCATCTTGCAGTTTTCTCTGTCTCCTTAAATTCACAGTGCTGTCTACCAAGTTTTCTAAGCCAGGAATCCATGTGGTATCCTTAACTCCGTTCTCTCCTTTGTTTCCTATATCAAAGTAGGAAGTCGTATTGATTCTGCATCCTAAATACTTCCTAGGTCTGTCTGCTCCCCGAATCCTCCTCCTCTACCCTAGACCAGGTTACTGTCATCTCTCCATTGGATTGCTGAAACGGCTTCCTATGTGGTTTCCCTGCCTCTGGTCTTGCTCCCCTCGAGTTTGATCCTTGGCTTCACATTGCCCTTAGGATAAGATTCACGTTAGTCCTTAGCCCACAGTCCCTAAAACATCTTTCAAGGCTCTCTTTCATCTGACCACTATCTCCATCTTTAGCTTTGTGTCTGAGAACTTTTTACTTCTTTCAGTTCCTAGAACAAGCTGTGCTCTCTCAGTTTTTCTGGGCAGCAGACACATTCTCTACTGTCTGCAGACCTTCTTCCTCGTCTTCATTAGTCTAACATCCTGCTTGTGCCTTAGGTTTCAGCTTGAAACCACCTTCTGGGATGGGGTGGAGGGGGTACCTTCTTGGCCTCTGCCCTGGCTCCTCTGCTTTATGCTCCCATAGCAGCCTGCACGTCTCTTAGAGTGATGCCCATCGCTGCACACATGATGCCCATCGTGATGACTTGCTCAAAGCCTGTCTTGTTTGGATTTTGGATTTTGTACGTGCAGTGAAGCTGAGGTTAGGTTTTTGTTTTTGCTTTGTTTTGCTTTTTTAAGTGACAGAGTCTTGCTATGTTGCCCAGGCTAGATTCAAATTGTTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAGTAACAGGAACTGTAGGCCCATGCCACTGCATCCAGCTGTTTTTTTAAACTACCATATCTTCAGTGTCTGGCATTTCTTGGCTCATATTTTAGTATGTGAGGGAGTAAATGAAAAGGGCTGACAACATGAATGTGCAGCATGGATGTAACCTTTTTTTTTCTGTAGTCTATGTAAAAATTGTGCTATTTCCTGGTGAGAATCTCAGTGAGCTTTAAACAAACATGATAATAAAAGCATCCTTTACTTGTGTGGAAGTGCTCAGAAGCAGAGGTGACCAATAGATAAATTTTGACACTAAAAATGTTGTATTTGGTTTGAGAAATGGGTCTCATGGAAATAGTTTGCCTGGAGACCATTAGAACCATTCTTTAAATATTTCAGACATCTCCTTAGAAACCTTTGTGGACTCTGAGAAGTAAGAGAACTTTTCTCAGGAGAAGACATCTCTCTCCTGTTTGTGTTCTACCATGTGGCCCGGGACCAAATTCTGAAACTTACATTAGCCATTCACTTAGCAAATTTTGTTATGTAGACGATGTGTAAAGCCCAGGTGAGCTTGAGACATTTTTGTTCCTACCCTTAGGCAAATGCGGAGCAAGACTGAGTGGTTCATGAAGTTGTTGCTTAGGACATCTTCCTGGATTTTTCTCCCTTTGTGGACTCCCAGAGTTGACTTATTTTATTTTATGTTTAAAATTGAGATTAATTTATATACCATAAAATTTACTCTTTTAATGTGTATAATTTAACGGTTTTTAGTATATTCACAAAATTGTGCAACTATCATCAGGCCTACTACCTAATTCTAGAACATTTTCATGACTCCACAAATAAACCTAATATCCAATAGCAGTCAGTCCTCACCTCTGTCCCCAGCAAGAATCCTTAATCTGCTTTTTCTCTCTATGGGTTTGCCTATTCTGGACATTTCCTATCAACATAATTGTACAATAAATGGTCTTTTGTA
|
AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCTGTAAAGCAAGGGATGCTTACAATATTTTCTCCATTATAATGTAATGGAGACCTTGGCAGAAGAAGATACAGTGCCTTAGAGTGCATGCCAGTAGCAGGGCTGGCATGAGGCCAGTTTGACTAATTGCAGTCGTGGCTCTTTTTGAGATGACAAACAGACTGCATGTGGATGATCTTCAGCGTAAGGCATGCTTCTGATTGCTGCTTTCCTACTGCCAGTGCTGAACATTCACCTTAACCCCCCTGGAACAGAATAACAAGTTTGGGGCCCCGGGGACAGAATAACAGTAAAGGTTGATGTGATATACAACTGCTTCCTTTCTCTGCACATACACACCCACTTCTCCTCTGGGGCTGTGAGTGTAATAGCCTAATCACCCACGACCCTGGCTTACCTGGACTGCCTGGTGCCTGAATATTGCATCCATGTCTGCTTCTCTGCACATAGGCCATGGGGCCCATAGAGTCTGCTTGCCATCATGGTCATGGAACCTGCCCAAGTTCATGTTGGATGGTTTCAGTGCTGCATGATAATCAGGAAAAATAAGACCGTATGTTGGTACTAAGGATAGTTATTACATTTTACAGAGTAGACCGGCAGCTGGAGAAGTTTTTAGCCTGCAGGTTACCTCACTCACCAGTTCTTGGTTTCATAAAGCTTAAACAAACAGAGTGGGATTTCCAGGGGTGGTTTGAAAATCTTTGAACCTAAACTGGTCATGTTAGAAGGGAATGTAGGTTGTCATCAGGGCAGGGAGGGGATTGGTAGCAATCAATATTGCAAAAAATGTGGTTTCTCAGTTGAGACATCTTGGCTCAGACTTTGTAGTGTGTGTTGCCCTAGAAAGTGATTTCGATGGGTTTGGGGTCCTGGGAGAGAATAACAGTAAAAGTTGGTGTGATATACACCTGCTTCCTTTCTCTGATGAAGTGTCATTGTACTACTTGCTGGATCCAGTTAAAACAATGTGGTCACTGTTTTCTAATTAAGGAGAGTAACGGCTAGTACAAGCAAACTGCAAGAGAAGCACTGAGGGTTTAATTCTAGGTTCTGCTTCCTGTATAGGGAATTGGGTTAATAAGACTAAGTAGCTGGAATGGACAGTGAGAGCCGGTGGAGGCTACATGATTGACATGTAACTCTGAGATGATGGTGGAAAGAACTGCTTGAGGCAGGGATTGGAGAGAGGCTGGGGTGTAAGCGATGTGAAATGTGATACTTTCTGGCCACCACTGCTTTCCAGGACCATTGTGTTCTGAGATTCTAGCCAGTGGTTGGTAAATGACTTCCCCAACCAGTCTTCCCATGCAGAACTGTTACTCCTGTTATTGTAAATGTGTTTATTTATAAAGTATGACTAGGGAGAGGTGAATGGGATCTGAGGGAGGTAGCAGAGAGGCTGTCCGTAAGGTGTCCTCTGGACTATGATGTGTTTCAAAAACTGGGAAGTAAGGAAAGGGTATTTAGGACCCCGGGGGAAGGCTGGTGATTCAAGGATAGAACGCAGCTGATGGCCCCGAGATGCGTGTATAAGGCATTGTCTTTATAGAAAACTGACTCTGTAAACGTTAGCTGGTTTTGATAATAAAGACTCAGTAATTCCTGTTCCTCTCCACAGTGTGTATCAGAATAAAGTCCTTTCTTTCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACAATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCCTTTACTGAATCTGTGAGATGTTGATGAGGTTTAGTGTGGTGGGCATCAAAGCAACCAATACATCAGTTACAGGGTAGGGTCCTTGAGGCACTGAGGCACCCATCTTTCCCACCTCCATGCAGTCTCATTCATCTTGCAGTTTTCTCTGTCTCCTTAAATTCACAGTGCTGTCTACCAAGTTTTCTAAGCCAGGAATCCATGTGGTATCCTTAACTCCGTTCTCTCCTTTGTTTCCTATATCAAAGTAGGAAGTCGTATTGATTCTGCATCCTAAATACTTCCTAGGTCTGTCTGCTCCCCGAATCCTCCTCCTCTACCCTAGACCAGGTTACTGTCATCTCTCCATTGGATTGCTGAAACGGCTTCCTATGTGGTTTCCCTGCCTCTGGTCTTGCTCCCCTCGAGTTTGATCCTTGGCTTCACATTGCCCTTAGGATAAGATTCACGTTAGTCCTTAGCCCACAGTCCCTAAAACATCTTTCAAGGCTCTCTTTCATCTGACCACTATCTCCATCTTTAGCTTTGTGTCTGAGAACTTTTTACTTCTTTCAGTTCCTAGAACAAGCTGTGCTCTCTCAGTTTTTCTGGGCAGCAGACACATTCTCTACTGTCTGCAGACCTTCTTCCTCGTCTTCATTAGTCTAACATCCTGCTTGTGCCTTAGGTTTCAGCTTGAAACCACCTTCTGGGATGGGGTGGAGGGGGTACCTTCTTGGCCTCTGCCCTGGCTCCTCTGCTTTATGCTCCCATAGCAGCCTGCACGTCTCTTAGAGTGATGCCCATCGCTGCACACATGATGCCCATCGTGATGACTTGCTCAAAGCCTGTCTTGTTTGGATTTTGGATTTTGTACGTGCAGTGAAGCTGAGGTTAGGTTTTTGTTTTTGCTTTGTTTTGCTTTTTTAAGTGACAGAGTCTTGCTATGTTGCCCAGGCTAGATTCAAATTGTTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAGTAACAGGAACTGTAGGCCCATGCCACTGCATCCAGCTGTTTTTTTAAACTACCATATCTTCAGTGTCTGGCATTTCTTGGCTCATATTTTAGTATGTGAGGGAGTAAATGAAAAGGGCTGACAACATGAATGTGCAGCATGGATGTAACCTTTTTTTTTCTGTAGTCTATGTAAAAATTGTGCTATTTCCTGGTGAGAATCTCAGTGAGCTTTAAACAAACATGATAATAAAAGCATCCTTTACTTGTGTGGAAGTGCTCAGAAGCAGAGGTGACCAATAGATAAATTTTGACACTAAAAATGTTGTATTTGGTTTGAGAAATGGGTCTCATGGAAATAGTTTGCCTGGAGACCATTAGAACCATTCTTTAAATATTTCAGACATCTCCTTAGAAACCTTTGTGGACTCTGAGAAGTAAGAGAACTTTTCTCAGGAGAAGACATCTCTCTCCTGTTTGTGTTCTACCATGTGGCCCGGGACCAAATTCTGAAACTTACATTAGCCATTCACTTAGCAAATTTTGTTATGTAGACGATGTGTAAAGCCCAGGTGAGCTTGAGACATTTTTGTTCCTACCCTTAGGCAAATGCGGAGCAAGACTGAGTGGTTCATGAAGTTGTTGCTTAGGACATCTTCCTGGATTTTTCTCCCTTTGTGGACTCCCAGAGTTGACTTATTTTATTTTATGTTTAAAATTGAGATTAATTTATATACCATAAAATTTACTCTTTTAATGTGTATAATTTAACGGTTTTTAGTATATTCACAAAATTGTGCAACTATCATCAGGCCTACTACCTAATTCTAGAACATTTTCATGACTCCACAAATAAACCTAATATCCAATAGCAGTCAGTCCTCACCTCTGTCCCCAGCAAGAATCCTTAATCTGCTTTTTCTCTCTATGGGTTTGCCTATTCTGGACATTTCCTATCAACATAATTGTACAATAAATGGTCTTTTGTA
|
Task1_train_15735
|
Consider this mutation in EXT2 (exostosin glycosyltransferase 2) on Chromosome 11. Is this a benign change or a disease-causing variant?
|
Pathogenic; Seizures-scoliosis-macrocephaly syndrome
|
AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCTGTAAAGCAAGGGATGCTTACAATATTTTCTCCATTATAATGTAATGGAGACCTTGGCAGAAGAAGATACAGTGCCTTAGAGTGCATGCCAGTAGCAGGGCTGGCATGAGGCCAGTTTGACTAATTGCAGTCGTGGCTCTTTTTGAGATGACAAACAGACTGCATGTGGATGATCTTCAGCGTAAGGCATGCTTCTGATTGCTGCTTTCCTACTGCCAGTGCTGAACATTCACCTTAACCCCCCTGGAACAGAATAACAAGTTTGGGGCCCCGGGGACAGAATAACAGTAAAGGTTGATGTGATATACAACTGCTTCCTTTCTCTGCACATACACACCCACTTCTCCTCTGGGGCTGTGAGTGTAATAGCCTAATCACCCACGACCCTGGCTTACCTGGACTGCCTGGTGCCTGAATATTGCATCCATGTCTGCTTCTCTGCACATAGGCCATGGGGCCCATAGAGTCTGCTTGCCATCATGGTCATGGAACCTGCCCAAGTTCATGTTGGATGGTTTCAGTGCTGCATGATAATCAGGAAAAATAAGACCGTATGTTGGTACTAAGGATAGTTATTACATTTTACAGAGTAGACCGGCAGCTGGAGAAGTTTTTAGCCTGCAGGTTACCTCACTCACCAGTTCTTGGTTTCATAAAGCTTAAACAAACAGAGTGGGATTTCCAGGGGTGGTTTGAAAATCTTTGAACCTAAACTGGTCATGTTAGAAGGGAATGTAGGTTGTCATCAGGGCAGGGAGGGGATTGGTAGCAATCAATATTGCAAAAAATGTGGTTTCTCAGTTGAGACATCTTGGCTCAGACTTTGTAGTGTGTGTTGCCCTAGAAAGTGATTTCGATGGGTTTGGGGTCCTGGGAGAGAATAACAGTAAAAGTTGGTGTGATATACACCTGCTTCCTTTCTCTGATGAAGTGTCATTGTACTACTTGCTGGATCCAGTTAAAACAATGTGGTCACTGTTTTCTAATTAAGGAGAGTAACGGCTAGTACAAGCAAACTGCAAGAGAAGCACTGAGGGTTTAATTCTAGGTTCTGCTTCCTGTATAGGGAATTGGGTTAATAAGACTAAGTAGCTGGAATGGACAGTGAGAGCCGGTGGAGGCTACATGATTGACATGTAACTCTGAGATGATGGTGGAAAGAACTGCTTGAGGCAGGGATTGGAGAGAGGCTGGGGTGTAAGCGATGTGAAATGTGATACTTTCTGGCCACCACTGCTTTCCAGGACCATTGTGTTCTGAGATTCTAGCCAGTGGTTGGTAAATGACTTCCCCAACCAGTCTTCCCATGCAGAACTGTTACTCCTGTTATTGTAAATGTGTTTATTTATAAAGTATGACTAGGGAGAGGTGAATGGGATCTGAGGGAGGTAGCAGAGAGGCTGTCCGTAAGGTGTCCTCTGGACTATGATGTGTTTCAAAAACTGGGAAGTAAGGAAAGGGTATTTAGGACCCCGGGGGAAGGCTGGTGATTCAAGGATAGAACGCAGCTGATGGCCCCGAGATGCGTGTATAAGGCATTGTCTTTATAGAAAACTGACTCTGTAAACGTTAGCTGGTTTTGATAATAAAGACTCAGTAATTCCTGTTCCTCTCCACAGTGTGTATCAGAATAAAGTCCTTTCTTTCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCCTTTACTGAATCTGTGAGATGTTGATGAGGTTTAGTGTGGTGGGCATCAAAGCAACCAATACATCAGTTACAGGGTAGGGTCCTTGAGGCACTGAGGCACCCATCTTTCCCACCTCCATGCAGTCTCATTCATCTTGCAGTTTTCTCTGTCTCCTTAAATTCACAGTGCTGTCTACCAAGTTTTCTAAGCCAGGAATCCATGTGGTATCCTTAACTCCGTTCTCTCCTTTGTTTCCTATATCAAAGTAGGAAGTCGTATTGATTCTGCATCCTAAATACTTCCTAGGTCTGTCTGCTCCCCGAATCCTCCTCCTCTACCCTAGACCAGGTTACTGTCATCTCTCCATTGGATTGCTGAAACGGCTTCCTATGTGGTTTCCCTGCCTCTGGTCTTGCTCCCCTCGAGTTTGATCCTTGGCTTCACATTGCCCTTAGGATAAGATTCACGTTAGTCCTTAGCCCACAGTCCCTAAAACATCTTTCAAGGCTCTCTTTCATCTGACCACTATCTCCATCTTTAGCTTTGTGTCTGAGAACTTTTTACTTCTTTCAGTTCCTAGAACAAGCTGTGCTCTCTCAGTTTTTCTGGGCAGCAGACACATTCTCTACTGTCTGCAGACCTTCTTCCTCGTCTTCATTAGTCTAACATCCTGCTTGTGCCTTAGGTTTCAGCTTGAAACCACCTTCTGGGATGGGGTGGAGGGGGTACCTTCTTGGCCTCTGCCCTGGCTCCTCTGCTTTATGCTCCCATAGCAGCCTGCACGTCTCTTAGAGTGATGCCCATCGCTGCACACATGATGCCCATCGTGATGACTTGCTCAAAGCCTGTCTTGTTTGGATTTTGGATTTTGTACGTGCAGTGAAGCTGAGGTTAGGTTTTTGTTTTTGCTTTGTTTTGCTTTTTTAAGTGACAGAGTCTTGCTATGTTGCCCAGGCTAGATTCAAATTGTTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAGTAACAGGAACTGTAGGCCCATGCCACTGCATCCAGCTGTTTTTTTAAACTACCATATCTTCAGTGTCTGGCATTTCTTGGCTCATATTTTAGTATGTGAGGGAGTAAATGAAAAGGGCTGACAACATGAATGTGCAGCATGGATGTAACCTTTTTTTTTCTGTAGTCTATGTAAAAATTGTGCTATTTCCTGGTGAGAATCTCAGTGAGCTTTAAACAAACATGATAATAAAAGCATCCTTTACTTGTGTGGAAGTGCTCAGAAGCAGAGGTGACCAATAGATAAATTTTGACACTAAAAATGTTGTATTTGGTTTGAGAAATGGGTCTCATGGAAATAGTTTGCCTGGAGACCATTAGAACCATTCTTTAAATATTTCAGACATCTCCTTAGAAACCTTTGTGGACTCTGAGAAGTAAGAGAACTTTTCTCAGGAGAAGACATCTCTCTCCTGTTTGTGTTCTACCATGTGGCCCGGGACCAAATTCTGAAACTTACATTAGCCATTCACTTAGCAAATTTTGTTATGTAGACGATGTGTAAAGCCCAGGTGAGCTTGAGACATTTTTGTTCCTACCCTTAGGCAAATGCGGAGCAAGACTGAGTGGTTCATGAAGTTGTTGCTTAGGACATCTTCCTGGATTTTTCTCCCTTTGTGGACTCCCAGAGTTGACTTATTTTATTTTATGTTTAAAATTGAGATTAATTTATATACCATAAAATTTACTCTTTTAATGTGTATAATTTAACGGTTTTTAGTATATTCACAAAATTGTGCAACTATCATCAGGCCTACTACCTAATTCTAGAACATTTTCATGACTCCACAAATAAACCTAATATCCAATAGCAGTCAGTCCTCACCTCTGTCCCCAGCAAGAATCCTTAATCTGCTTTTTCTCTCTATGGGTTTGCCTATTCTGGACATTTCCTATCAACATAATTGTACAATAAATGGTCTTTTGTA
|
AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCTGTAAAGCAAGGGATGCTTACAATATTTTCTCCATTATAATGTAATGGAGACCTTGGCAGAAGAAGATACAGTGCCTTAGAGTGCATGCCAGTAGCAGGGCTGGCATGAGGCCAGTTTGACTAATTGCAGTCGTGGCTCTTTTTGAGATGACAAACAGACTGCATGTGGATGATCTTCAGCGTAAGGCATGCTTCTGATTGCTGCTTTCCTACTGCCAGTGCTGAACATTCACCTTAACCCCCCTGGAACAGAATAACAAGTTTGGGGCCCCGGGGACAGAATAACAGTAAAGGTTGATGTGATATACAACTGCTTCCTTTCTCTGCACATACACACCCACTTCTCCTCTGGGGCTGTGAGTGTAATAGCCTAATCACCCACGACCCTGGCTTACCTGGACTGCCTGGTGCCTGAATATTGCATCCATGTCTGCTTCTCTGCACATAGGCCATGGGGCCCATAGAGTCTGCTTGCCATCATGGTCATGGAACCTGCCCAAGTTCATGTTGGATGGTTTCAGTGCTGCATGATAATCAGGAAAAATAAGACCGTATGTTGGTACTAAGGATAGTTATTACATTTTACAGAGTAGACCGGCAGCTGGAGAAGTTTTTAGCCTGCAGGTTACCTCACTCACCAGTTCTTGGTTTCATAAAGCTTAAACAAACAGAGTGGGATTTCCAGGGGTGGTTTGAAAATCTTTGAACCTAAACTGGTCATGTTAGAAGGGAATGTAGGTTGTCATCAGGGCAGGGAGGGGATTGGTAGCAATCAATATTGCAAAAAATGTGGTTTCTCAGTTGAGACATCTTGGCTCAGACTTTGTAGTGTGTGTTGCCCTAGAAAGTGATTTCGATGGGTTTGGGGTCCTGGGAGAGAATAACAGTAAAAGTTGGTGTGATATACACCTGCTTCCTTTCTCTGATGAAGTGTCATTGTACTACTTGCTGGATCCAGTTAAAACAATGTGGTCACTGTTTTCTAATTAAGGAGAGTAACGGCTAGTACAAGCAAACTGCAAGAGAAGCACTGAGGGTTTAATTCTAGGTTCTGCTTCCTGTATAGGGAATTGGGTTAATAAGACTAAGTAGCTGGAATGGACAGTGAGAGCCGGTGGAGGCTACATGATTGACATGTAACTCTGAGATGATGGTGGAAAGAACTGCTTGAGGCAGGGATTGGAGAGAGGCTGGGGTGTAAGCGATGTGAAATGTGATACTTTCTGGCCACCACTGCTTTCCAGGACCATTGTGTTCTGAGATTCTAGCCAGTGGTTGGTAAATGACTTCCCCAACCAGTCTTCCCATGCAGAACTGTTACTCCTGTTATTGTAAATGTGTTTATTTATAAAGTATGACTAGGGAGAGGTGAATGGGATCTGAGGGAGGTAGCAGAGAGGCTGTCCGTAAGGTGTCCTCTGGACTATGATGTGTTTCAAAAACTGGGAAGTAAGGAAAGGGTATTTAGGACCCCGGGGGAAGGCTGGTGATTCAAGGATAGAACGCAGCTGATGGCCCCGAGATGCGTGTATAAGGCATTGTCTTTATAGAAAACTGACTCTGTAAACGTTAGCTGGTTTTGATAATAAAGACTCAGTAATTCCTGTTCCTCTCCACAGTGTGTATCAGAATAAAGTCCTTTCTTTCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACAATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCCTTTACTGAATCTGTGAGATGTTGATGAGGTTTAGTGTGGTGGGCATCAAAGCAACCAATACATCAGTTACAGGGTAGGGTCCTTGAGGCACTGAGGCACCCATCTTTCCCACCTCCATGCAGTCTCATTCATCTTGCAGTTTTCTCTGTCTCCTTAAATTCACAGTGCTGTCTACCAAGTTTTCTAAGCCAGGAATCCATGTGGTATCCTTAACTCCGTTCTCTCCTTTGTTTCCTATATCAAAGTAGGAAGTCGTATTGATTCTGCATCCTAAATACTTCCTAGGTCTGTCTGCTCCCCGAATCCTCCTCCTCTACCCTAGACCAGGTTACTGTCATCTCTCCATTGGATTGCTGAAACGGCTTCCTATGTGGTTTCCCTGCCTCTGGTCTTGCTCCCCTCGAGTTTGATCCTTGGCTTCACATTGCCCTTAGGATAAGATTCACGTTAGTCCTTAGCCCACAGTCCCTAAAACATCTTTCAAGGCTCTCTTTCATCTGACCACTATCTCCATCTTTAGCTTTGTGTCTGAGAACTTTTTACTTCTTTCAGTTCCTAGAACAAGCTGTGCTCTCTCAGTTTTTCTGGGCAGCAGACACATTCTCTACTGTCTGCAGACCTTCTTCCTCGTCTTCATTAGTCTAACATCCTGCTTGTGCCTTAGGTTTCAGCTTGAAACCACCTTCTGGGATGGGGTGGAGGGGGTACCTTCTTGGCCTCTGCCCTGGCTCCTCTGCTTTATGCTCCCATAGCAGCCTGCACGTCTCTTAGAGTGATGCCCATCGCTGCACACATGATGCCCATCGTGATGACTTGCTCAAAGCCTGTCTTGTTTGGATTTTGGATTTTGTACGTGCAGTGAAGCTGAGGTTAGGTTTTTGTTTTTGCTTTGTTTTGCTTTTTTAAGTGACAGAGTCTTGCTATGTTGCCCAGGCTAGATTCAAATTGTTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAGTAACAGGAACTGTAGGCCCATGCCACTGCATCCAGCTGTTTTTTTAAACTACCATATCTTCAGTGTCTGGCATTTCTTGGCTCATATTTTAGTATGTGAGGGAGTAAATGAAAAGGGCTGACAACATGAATGTGCAGCATGGATGTAACCTTTTTTTTTCTGTAGTCTATGTAAAAATTGTGCTATTTCCTGGTGAGAATCTCAGTGAGCTTTAAACAAACATGATAATAAAAGCATCCTTTACTTGTGTGGAAGTGCTCAGAAGCAGAGGTGACCAATAGATAAATTTTGACACTAAAAATGTTGTATTTGGTTTGAGAAATGGGTCTCATGGAAATAGTTTGCCTGGAGACCATTAGAACCATTCTTTAAATATTTCAGACATCTCCTTAGAAACCTTTGTGGACTCTGAGAAGTAAGAGAACTTTTCTCAGGAGAAGACATCTCTCTCCTGTTTGTGTTCTACCATGTGGCCCGGGACCAAATTCTGAAACTTACATTAGCCATTCACTTAGCAAATTTTGTTATGTAGACGATGTGTAAAGCCCAGGTGAGCTTGAGACATTTTTGTTCCTACCCTTAGGCAAATGCGGAGCAAGACTGAGTGGTTCATGAAGTTGTTGCTTAGGACATCTTCCTGGATTTTTCTCCCTTTGTGGACTCCCAGAGTTGACTTATTTTATTTTATGTTTAAAATTGAGATTAATTTATATACCATAAAATTTACTCTTTTAATGTGTATAATTTAACGGTTTTTAGTATATTCACAAAATTGTGCAACTATCATCAGGCCTACTACCTAATTCTAGAACATTTTCATGACTCCACAAATAAACCTAATATCCAATAGCAGTCAGTCCTCACCTCTGTCCCCAGCAAGAATCCTTAATCTGCTTTTTCTCTCTATGGGTTTGCCTATTCTGGACATTTCCTATCAACATAATTGTACAATAAATGGTCTTTTGTA
|
Task1_train_15736
|
Given a variant located on Chromosome 11 and affecting EXT2 (exostosin glycosyltransferase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Exostoses, multiple, type 2
|
AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCTGTAAAGCAAGGGATGCTTACAATATTTTCTCCATTATAATGTAATGGAGACCTTGGCAGAAGAAGATACAGTGCCTTAGAGTGCATGCCAGTAGCAGGGCTGGCATGAGGCCAGTTTGACTAATTGCAGTCGTGGCTCTTTTTGAGATGACAAACAGACTGCATGTGGATGATCTTCAGCGTAAGGCATGCTTCTGATTGCTGCTTTCCTACTGCCAGTGCTGAACATTCACCTTAACCCCCCTGGAACAGAATAACAAGTTTGGGGCCCCGGGGACAGAATAACAGTAAAGGTTGATGTGATATACAACTGCTTCCTTTCTCTGCACATACACACCCACTTCTCCTCTGGGGCTGTGAGTGTAATAGCCTAATCACCCACGACCCTGGCTTACCTGGACTGCCTGGTGCCTGAATATTGCATCCATGTCTGCTTCTCTGCACATAGGCCATGGGGCCCATAGAGTCTGCTTGCCATCATGGTCATGGAACCTGCCCAAGTTCATGTTGGATGGTTTCAGTGCTGCATGATAATCAGGAAAAATAAGACCGTATGTTGGTACTAAGGATAGTTATTACATTTTACAGAGTAGACCGGCAGCTGGAGAAGTTTTTAGCCTGCAGGTTACCTCACTCACCAGTTCTTGGTTTCATAAAGCTTAAACAAACAGAGTGGGATTTCCAGGGGTGGTTTGAAAATCTTTGAACCTAAACTGGTCATGTTAGAAGGGAATGTAGGTTGTCATCAGGGCAGGGAGGGGATTGGTAGCAATCAATATTGCAAAAAATGTGGTTTCTCAGTTGAGACATCTTGGCTCAGACTTTGTAGTGTGTGTTGCCCTAGAAAGTGATTTCGATGGGTTTGGGGTCCTGGGAGAGAATAACAGTAAAAGTTGGTGTGATATACACCTGCTTCCTTTCTCTGATGAAGTGTCATTGTACTACTTGCTGGATCCAGTTAAAACAATGTGGTCACTGTTTTCTAATTAAGGAGAGTAACGGCTAGTACAAGCAAACTGCAAGAGAAGCACTGAGGGTTTAATTCTAGGTTCTGCTTCCTGTATAGGGAATTGGGTTAATAAGACTAAGTAGCTGGAATGGACAGTGAGAGCCGGTGGAGGCTACATGATTGACATGTAACTCTGAGATGATGGTGGAAAGAACTGCTTGAGGCAGGGATTGGAGAGAGGCTGGGGTGTAAGCGATGTGAAATGTGATACTTTCTGGCCACCACTGCTTTCCAGGACCATTGTGTTCTGAGATTCTAGCCAGTGGTTGGTAAATGACTTCCCCAACCAGTCTTCCCATGCAGAACTGTTACTCCTGTTATTGTAAATGTGTTTATTTATAAAGTATGACTAGGGAGAGGTGAATGGGATCTGAGGGAGGTAGCAGAGAGGCTGTCCGTAAGGTGTCCTCTGGACTATGATGTGTTTCAAAAACTGGGAAGTAAGGAAAGGGTATTTAGGACCCCGGGGGAAGGCTGGTGATTCAAGGATAGAACGCAGCTGATGGCCCCGAGATGCGTGTATAAGGCATTGTCTTTATAGAAAACTGACTCTGTAAACGTTAGCTGGTTTTGATAATAAAGACTCAGTAATTCCTGTTCCTCTCCACAGTGTGTATCAGAATAAAGTCCTTTCTTTCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCCTTTACTGAATCTGTGAGATGTTGATGAGGTTTAGTGTGGTGGGCATCAAAGCAACCAATACATCAGTTACAGGGTAGGGTCCTTGAGGCACTGAGGCACCCATCTTTCCCACCTCCATGCAGTCTCATTCATCTTGCAGTTTTCTCTGTCTCCTTAAATTCACAGTGCTGTCTACCAAGTTTTCTAAGCCAGGAATCCATGTGGTATCCTTAACTCCGTTCTCTCCTTTGTTTCCTATATCAAAGTAGGAAGTCGTATTGATTCTGCATCCTAAATACTTCCTAGGTCTGTCTGCTCCCCGAATCCTCCTCCTCTACCCTAGACCAGGTTACTGTCATCTCTCCATTGGATTGCTGAAACGGCTTCCTATGTGGTTTCCCTGCCTCTGGTCTTGCTCCCCTCGAGTTTGATCCTTGGCTTCACATTGCCCTTAGGATAAGATTCACGTTAGTCCTTAGCCCACAGTCCCTAAAACATCTTTCAAGGCTCTCTTTCATCTGACCACTATCTCCATCTTTAGCTTTGTGTCTGAGAACTTTTTACTTCTTTCAGTTCCTAGAACAAGCTGTGCTCTCTCAGTTTTTCTGGGCAGCAGACACATTCTCTACTGTCTGCAGACCTTCTTCCTCGTCTTCATTAGTCTAACATCCTGCTTGTGCCTTAGGTTTCAGCTTGAAACCACCTTCTGGGATGGGGTGGAGGGGGTACCTTCTTGGCCTCTGCCCTGGCTCCTCTGCTTTATGCTCCCATAGCAGCCTGCACGTCTCTTAGAGTGATGCCCATCGCTGCACACATGATGCCCATCGTGATGACTTGCTCAAAGCCTGTCTTGTTTGGATTTTGGATTTTGTACGTGCAGTGAAGCTGAGGTTAGGTTTTTGTTTTTGCTTTGTTTTGCTTTTTTAAGTGACAGAGTCTTGCTATGTTGCCCAGGCTAGATTCAAATTGTTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAGTAACAGGAACTGTAGGCCCATGCCACTGCATCCAGCTGTTTTTTTAAACTACCATATCTTCAGTGTCTGGCATTTCTTGGCTCATATTTTAGTATGTGAGGGAGTAAATGAAAAGGGCTGACAACATGAATGTGCAGCATGGATGTAACCTTTTTTTTTCTGTAGTCTATGTAAAAATTGTGCTATTTCCTGGTGAGAATCTCAGTGAGCTTTAAACAAACATGATAATAAAAGCATCCTTTACTTGTGTGGAAGTGCTCAGAAGCAGAGGTGACCAATAGATAAATTTTGACACTAAAAATGTTGTATTTGGTTTGAGAAATGGGTCTCATGGAAATAGTTTGCCTGGAGACCATTAGAACCATTCTTTAAATATTTCAGACATCTCCTTAGAAACCTTTGTGGACTCTGAGAAGTAAGAGAACTTTTCTCAGGAGAAGACATCTCTCTCCTGTTTGTGTTCTACCATGTGGCCCGGGACCAAATTCTGAAACTTACATTAGCCATTCACTTAGCAAATTTTGTTATGTAGACGATGTGTAAAGCCCAGGTGAGCTTGAGACATTTTTGTTCCTACCCTTAGGCAAATGCGGAGCAAGACTGAGTGGTTCATGAAGTTGTTGCTTAGGACATCTTCCTGGATTTTTCTCCCTTTGTGGACTCCCAGAGTTGACTTATTTTATTTTATGTTTAAAATTGAGATTAATTTATATACCATAAAATTTACTCTTTTAATGTGTATAATTTAACGGTTTTTAGTATATTCACAAAATTGTGCAACTATCATCAGGCCTACTACCTAATTCTAGAACATTTTCATGACTCCACAAATAAACCTAATATCCAATAGCAGTCAGTCCTCACCTCTGTCCCCAGCAAGAATCCTTAATCTGCTTTTTCTCTCTATGGGTTTGCCTATTCTGGACATTTCCTATCAACATAATTGTACAATAAATGGTCTTTTGTA
|
AACTGTGAGAAAACATGCAGAACACTGGGTTAGGGAGGGTGGAGAATACAAGGCCGTGGAGAGGAAGGCTCAGTGTCAGAGGAGACGTCCCAGAATCAGGCAGCCCTGCAAAGTGCTAAAAATGCTGGAGAGCGCCTCCAGTGATTATAATACTTGGCCTGACCTGAGTCAGATCATCATATTAATACTTCTTTAGCTGCAGGTTTTCTTTTCAGTCTCTTGCAGCTTTGGAACTAATCTCTGATTTGGGGATACATAATGGGAAAACAGAATGTGCTGTTCAGAAATTCACTTTTCAGTCAATGTAAACCATGTGTTCTGTAAAGCAAGGGATGCTTACAATATTTTCTCCATTATAATGTAATGGAGACCTTGGCAGAAGAAGATACAGTGCCTTAGAGTGCATGCCAGTAGCAGGGCTGGCATGAGGCCAGTTTGACTAATTGCAGTCGTGGCTCTTTTTGAGATGACAAACAGACTGCATGTGGATGATCTTCAGCGTAAGGCATGCTTCTGATTGCTGCTTTCCTACTGCCAGTGCTGAACATTCACCTTAACCCCCCTGGAACAGAATAACAAGTTTGGGGCCCCGGGGACAGAATAACAGTAAAGGTTGATGTGATATACAACTGCTTCCTTTCTCTGCACATACACACCCACTTCTCCTCTGGGGCTGTGAGTGTAATAGCCTAATCACCCACGACCCTGGCTTACCTGGACTGCCTGGTGCCTGAATATTGCATCCATGTCTGCTTCTCTGCACATAGGCCATGGGGCCCATAGAGTCTGCTTGCCATCATGGTCATGGAACCTGCCCAAGTTCATGTTGGATGGTTTCAGTGCTGCATGATAATCAGGAAAAATAAGACCGTATGTTGGTACTAAGGATAGTTATTACATTTTACAGAGTAGACCGGCAGCTGGAGAAGTTTTTAGCCTGCAGGTTACCTCACTCACCAGTTCTTGGTTTCATAAAGCTTAAACAAACAGAGTGGGATTTCCAGGGGTGGTTTGAAAATCTTTGAACCTAAACTGGTCATGTTAGAAGGGAATGTAGGTTGTCATCAGGGCAGGGAGGGGATTGGTAGCAATCAATATTGCAAAAAATGTGGTTTCTCAGTTGAGACATCTTGGCTCAGACTTTGTAGTGTGTGTTGCCCTAGAAAGTGATTTCGATGGGTTTGGGGTCCTGGGAGAGAATAACAGTAAAAGTTGGTGTGATATACACCTGCTTCCTTTCTCTGATGAAGTGTCATTGTACTACTTGCTGGATCCAGTTAAAACAATGTGGTCACTGTTTTCTAATTAAGGAGAGTAACGGCTAGTACAAGCAAACTGCAAGAGAAGCACTGAGGGTTTAATTCTAGGTTCTGCTTCCTGTATAGGGAATTGGGTTAATAAGACTAAGTAGCTGGAATGGACAGTGAGAGCCGGTGGAGGCTACATGATTGACATGTAACTCTGAGATGATGGTGGAAAGAACTGCTTGAGGCAGGGATTGGAGAGAGGCTGGGGTGTAAGCGATGTGAAATGTGATACTTTCTGGCCACCACTGCTTTCCAGGACCATTGTGTTCTGAGATTCTAGCCAGTGGTTGGTAAATGACTTCCCCAACCAGTCTTCCCATGCAGAACTGTTACTCCTGTTATTGTAAATGTGTTTATTTATAAAGTATGACTAGGGAGAGGTGAATGGGATCTGAGGGAGGTAGCAGAGAGGCTGTCCGTAAGGTGTCCTCTGGACTATGATGTGTTTCAAAAACTGGGAAGTAAGGAAAGGGTATTTAGGACCCCGGGGGAAGGCTGGTGATTCAAGGATAGAACGCAGCTGATGGCCCCGAGATGCGTGTATAAGGCATTGTCTTTATAGAAAACTGACTCTGTAAACGTTAGCTGGTTTTGATAATAAAGACTCAGTAATTCCTGTTCCTCTCCACAGTGTGTATCAGAATAAAGTCCTTTCTTTCTCATCGTTTAACAAAATACTTTGCTTTCAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACAATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCCTTTACTGAATCTGTGAGATGTTGATGAGGTTTAGTGTGGTGGGCATCAAAGCAACCAATACATCAGTTACAGGGTAGGGTCCTTGAGGCACTGAGGCACCCATCTTTCCCACCTCCATGCAGTCTCATTCATCTTGCAGTTTTCTCTGTCTCCTTAAATTCACAGTGCTGTCTACCAAGTTTTCTAAGCCAGGAATCCATGTGGTATCCTTAACTCCGTTCTCTCCTTTGTTTCCTATATCAAAGTAGGAAGTCGTATTGATTCTGCATCCTAAATACTTCCTAGGTCTGTCTGCTCCCCGAATCCTCCTCCTCTACCCTAGACCAGGTTACTGTCATCTCTCCATTGGATTGCTGAAACGGCTTCCTATGTGGTTTCCCTGCCTCTGGTCTTGCTCCCCTCGAGTTTGATCCTTGGCTTCACATTGCCCTTAGGATAAGATTCACGTTAGTCCTTAGCCCACAGTCCCTAAAACATCTTTCAAGGCTCTCTTTCATCTGACCACTATCTCCATCTTTAGCTTTGTGTCTGAGAACTTTTTACTTCTTTCAGTTCCTAGAACAAGCTGTGCTCTCTCAGTTTTTCTGGGCAGCAGACACATTCTCTACTGTCTGCAGACCTTCTTCCTCGTCTTCATTAGTCTAACATCCTGCTTGTGCCTTAGGTTTCAGCTTGAAACCACCTTCTGGGATGGGGTGGAGGGGGTACCTTCTTGGCCTCTGCCCTGGCTCCTCTGCTTTATGCTCCCATAGCAGCCTGCACGTCTCTTAGAGTGATGCCCATCGCTGCACACATGATGCCCATCGTGATGACTTGCTCAAAGCCTGTCTTGTTTGGATTTTGGATTTTGTACGTGCAGTGAAGCTGAGGTTAGGTTTTTGTTTTTGCTTTGTTTTGCTTTTTTAAGTGACAGAGTCTTGCTATGTTGCCCAGGCTAGATTCAAATTGTTGGGCTCAAGTGACCCTCCTGCCTCAGCCTCCCAAGTAACAGGAACTGTAGGCCCATGCCACTGCATCCAGCTGTTTTTTTAAACTACCATATCTTCAGTGTCTGGCATTTCTTGGCTCATATTTTAGTATGTGAGGGAGTAAATGAAAAGGGCTGACAACATGAATGTGCAGCATGGATGTAACCTTTTTTTTTCTGTAGTCTATGTAAAAATTGTGCTATTTCCTGGTGAGAATCTCAGTGAGCTTTAAACAAACATGATAATAAAAGCATCCTTTACTTGTGTGGAAGTGCTCAGAAGCAGAGGTGACCAATAGATAAATTTTGACACTAAAAATGTTGTATTTGGTTTGAGAAATGGGTCTCATGGAAATAGTTTGCCTGGAGACCATTAGAACCATTCTTTAAATATTTCAGACATCTCCTTAGAAACCTTTGTGGACTCTGAGAAGTAAGAGAACTTTTCTCAGGAGAAGACATCTCTCTCCTGTTTGTGTTCTACCATGTGGCCCGGGACCAAATTCTGAAACTTACATTAGCCATTCACTTAGCAAATTTTGTTATGTAGACGATGTGTAAAGCCCAGGTGAGCTTGAGACATTTTTGTTCCTACCCTTAGGCAAATGCGGAGCAAGACTGAGTGGTTCATGAAGTTGTTGCTTAGGACATCTTCCTGGATTTTTCTCCCTTTGTGGACTCCCAGAGTTGACTTATTTTATTTTATGTTTAAAATTGAGATTAATTTATATACCATAAAATTTACTCTTTTAATGTGTATAATTTAACGGTTTTTAGTATATTCACAAAATTGTGCAACTATCATCAGGCCTACTACCTAATTCTAGAACATTTTCATGACTCCACAAATAAACCTAATATCCAATAGCAGTCAGTCCTCACCTCTGTCCCCAGCAAGAATCCTTAATCTGCTTTTTCTCTCTATGGGTTTGCCTATTCTGGACATTTCCTATCAACATAATTGTACAATAAATGGTCTTTTGTA
|
Task1_train_15737
|
A variant has been detected on Chromosome 11 in EXT2 (exostosin glycosyltransferase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Exostoses, multiple, type 2
|
AGTGTGACTGACAAACTGAACTTTTAATTTTATTTACTTTTAATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAAGGAGATGACCTTCTCAGTTAGAGTATAATTATTGAGTGAGATGCTCCCCGGCTAGAACTTCCAAACAAGTCTGAGTAACTAAGGAAAAGTAACAATTACCATTCTCTCTTCAAAGCCAAAAACAAACAAACAAAAAATGGATGGGTTCACAAACTCTAGGTTGCGTGGTGGCGTTGCCTGTGAGAGATACGTAGCCCTAGTATTTTCCCTGGGCTGTACCAGTTTGAGCTGGATTTCAGTGTGTGCTGCTTCTAGGCTTAATGAGTGTTTCATTTCTTCCTGGAACATGCTTTCTGTGATTCTTCTCTTTGACACTGATTCCTTGTGGTCCCTCAGCCTAAACAGGTTGAGTATCCCTTATCCAAAATGCTCAGGACCAGAAGTGTTTTGGACTCCTGATTTTTTCAGATTTTGGAGTATTTGCGTTATACTCTTGGTTGAGCATTCCAAATCCAGAAATCTAAAATATTTCAATGAGCATTTCTTTTGAGCATCATGTTGGCATCCAGAAAGCTTTGGATTTTGGAGCATTTTGGACTTCAGATTTTCAGATTTGATATGCTCAACCTGTATAGGTTTTATGTTCTGTACCCTCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTTTTCTTTTACACATCCTTGCCATCCAGATGTTAAGACTGGAGATTCTATGCTTTGATGAAGATCGTTTTTTCTACTTCTTGTTTTCAACTACCAATTCGGTCTCCCTCCCATTTATGTGGCCTTGATGATGGGGACTTTCCCTATAGCCTCTCCATTGCACAGGGATGCTGTTAGACAGCCAGGAGCAGCCCTTTCCAGAGCCCTTCAGTTGCCTGCCAGTGCTTCCCATCAAGCTTCCCTCTTTCCCCATTTGAAGAATGCAGCCAGCTTCCAGTCGCTTTCAGATCAGGGACTCAGATGTAACTAAGACAACACTTCGATGTTCCTTCCAAATTATCAGTTTCTCTCCTACACACACACACACACACACACACACACACACACACACAATTTATAGCATGCGCTCTCAGCTTAGCATATTATAAGCATTTCCTCACGATATCAAGAACTGTTCCCAAATAAGATGTGTTATGATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATACTACAGAAGATAATTTTAAAAATCAGTGGAGGTGAAGACTGGTAAGGAAACACTTACTGTCATAAGTTTAATATCAAAGTTTGTCTTACCTTGACTAACATACCAGCTGCAATTTTCCAATCACCTGTTTTTTTCCCTTGTAGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAG
|
AGTGTGACTGACAAACTGAACTTTTAATTTTATTTACTTTTAATTAGTTTAATTTAAATGGCCTCACGTGGCTAGTTGCTATTAGTGAAGTTCTAGGGAGTCTGCTGGTTCCTTTTTTTCTTAATTGTGATGTGTTAAGTGCCTTTTGCTCTTAGTTAGGCCAAAACCAGAATTGATCCTGAGGACGTAAAAGCAGTCTGGCTGTGGTATAGGTTGCTCTTTTCTCTGGGTTTGTATGACTAGTCTAGCTGGCTAGGCAGGTGTTCACCTTCACTCATTGCTTTATGTGATTTGGACCTGAAGCTTAATCCTCTATAAAAGGAGATGACCTTCTCAGTTAGAGTATAATTATTGAGTGAGATGCTCCCCGGCTAGAACTTCCAAACAAGTCTGAGTAACTAAGGAAAAGTAACAATTACCATTCTCTCTTCAAAGCCAAAAACAAACAAACAAAAAATGGATGGGTTCACAAACTCTAGGTTGCGTGGTGGCGTTGCCTGTGAGAGATACGTAGCCCTAGTATTTTCCCTGGGCTGTACCAGTTTGAGCTGGATTTCAGTGTGTGCTGCTTCTAGGCTTAATGAGTGTTTCATTTCTTCCTGGAACATGCTTTCTGTGATTCTTCTCTTTGACACTGATTCCTTGTGGTCCCTCAGCCTAAACAGGTTGAGTATCCCTTATCCAAAATGCTCAGGACCAGAAGTGTTTTGGACTCCTGATTTTTTCAGATTTTGGAGTATTTGCGTTATACTCTTGGTTGAGCATTCCAAATCCAGAAATCTAAAATATTTCAATGAGCATTTCTTTTGAGCATCATGTTGGCATCCAGAAAGCTTTGGATTTTGGAGCATTTTGGACTTCAGATTTTCAGATTTGATATGCTCAACCTGTATAGGTTTTATGTTCTGTACCCTCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCTGGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTTCCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATCTTTCTTCCCTCTGTTTTCTTTTACACATCCTTGCCATCCAGATGTTAAGACTGGAGATTCTATGCTTTGATGAAGATCGTTTTTTCTACTTCTTGTTTTCAACTACCAATTCGGTCTCCCTCCCATTTATGTGGCCTTGATGATGGGGACTTTCCCTATAGCCTCTCCATTGCACAGGGATGCTGTTAGACAGCCAGGAGCAGCCCTTTCCAGAGCCCTTCAGTTGCCTGCCAGTGCTTCCCATCAAGCTTCCCTCTTTCCCCATTTGAAGAATGCAGCCAGCTTCCAGTCGCTTTCAGATCAGGGACTCAGATGTAACTAAGACAACACTTCGATGTTCCTTCCAAATTATCAGTTTCTCTCCTACACACACACACACACACACACACACACACACACACACAATTTATAGCATGCGCTCTCAGCTTAGCATATTATAAGCATTTCCTCACGATATCAAGAACTGTTCCCAAATAAGATGTGTTATGATTGCATAATATTTCAGTGTGTGAATGAATCATATCTTACTTTCTCACAATATATAATATTTTAAATATTTACTAATACTACAGAAGATAATTTTAAAAATCAGTGGAGGTGAAGACTGGTAAGGAAACACTTACTGTCATAAGTTTAATATCAAAGTTTGTCTTACCTTGACTAACATACCAGCTGCAATTTTCCAATCACCTGTTTTTTTCCCTTGTAGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAGCCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAG
|
Task1_train_15738
|
A variant has been detected on Chromosome 11 in EXT2 (exostosin glycosyltransferase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Exostoses, multiple, type 2
|
GAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAGGTGGGTAGTACCTCCTAGTAAACTCTACATTAGTGGTTCTGCGTATATTACAAATAAAATCTCCTCAGGTCATTGTAATGTATACCCTGGTTCAAGAACTACTACAGATAGTTTTTCTCTATTTTCCATTAGGAGAGTTAGTACACTGGTCTAGAGCAGTTCACAAACCAAGGCCAGTTTGCAGGCTGGCTGTTTTTGTAAGTCAAGTTTTATTGAAACACAGCCGTGTCCCTTCCTTTACGTATAGTCTGGCTGTTATTGTGTCACATTGGTAGAGTTAAGTAATTGCAACAGAAATTGGATGACATACAGGGCTTAAAATATCACTATCTGGCCTTTCATCACAGGGGTCCCCAACTCCCGGGCTGTGGCCTGTTTGGAGCCGGGCTGCACAGCAGGAGGTGACCAGCGGGCCAGTGAACATTACCATCTGAGCCTCGCCTCCTGTCAGATCAGTGGTGGCATTAAATTATCATAGAAGCGTGGACCCTACTGTGAATTGTGCATACAAGGGATCTAGGTTGCGCTCTCCTTATGAGAATTTAACTAATGCCTGATGATCTGAGGTGGAACAGTTTCATCCCCAAACGATTCCCTGCCAAACCCAGTCTGTGGAAAAATTGTCTTCCACAAAACCAGTCCTTGGTGCTGAAAAGGTTGGGGACTGTTGCTTTTCAGAAAATGGTTACCAACCTCTAGCCTAGACCGGTGTTCAACTCTGACTACAGAGTAGACTCACCTGGAGAGCTTAAAAAAAATGCCTTGCCTAATTCTTGGGGATTCTGAATGTTAAAGCTCCCAGGTGATTCTGATTTGTAGTCAGAGTTGAGAACCACTGGTCTAGAGTCTATTGAATTTGCATAATGTTGTAGATGGTGGTGGAGAGCCTCATGTAGATGAAAGCTTAGAGACATTCCCAGTGTACAGATGGACCCAGTTCCATTCTACTGGGTGTTCACCATTTATATTGCAATAAACAGAATAGCCCTCTATTCTCATGCTTCACTTTCCCAAGATTTTGCAGGGTGAAGGTTGTTGAAAATTAATTCCATTCATATCTATCTCTCAGTCTTTTCCTTGCCTCAAATGCTTACTGGTTTTTTCCTCTCCCAACTTTTTTGGTATTTCTGTCCAAATCTGATCACCACAGGTATTTGAACAACTTGAAAAGCTCTAGTTCATTCATTCATTCATTTATTCATTCATCTCACATTGATTGGAAACCCTCTTGTGAGTAACATAGAGTCTCTGTTTCCAAGGAGGCTAGAATCTAGTGAGAGAAGACAAACCGATGATAATGTTTTGTGGTAAATGTCATAGCAGCTGTATGCACAGGGGACCATGGAAACCCAAAAGAGAGGAGGGAGCCTAACTCAGCTTGAAAGAGGAGAGCATGTAGTTATTCTTCATGCCTTAGAGAAGCGATGAGCCACTTCCAGCATTTATCTCCCAATGAAAGCATCCATTAAGTACCTTTTATTTACCAGATGCTGTCTTAAGTATAGGGAGACAAATACAATCAAGGCCAAACCTTTTCTCAGGGACACTCATAGTGTAGTGGTGGAAGACAGAGGAGTAAATCAGCAGTTACCAAATCCTGTGATGAGACAGCTGTGACTGGATGGGATGCCAGGAGGAGGGGGAGACACACACCATCATTGGCAGTGGGATTGGTGAGGGCTTCACAGAGGCGGTAACTCTAAGCTGAGTCCAAAAGGGTATTTCTATGAGAATCTAGATCTGCTTGGGTAGTGCTAATTATGGATTTAAAGTCAGAAGGCCTAGGTTGAGATAACCAGCTCTCTCACTGGCTGGCTTTTTGATCTTGGCAAATGACTTAATCTTTTTTGAGTCTCAGTTCTCCCATCTGTATAGTGGAAATCATTTACTTACTTAACAAATGTTTATCAAGTGCTAACTGTGCAAGGCAGTAATATACCAGGTGCTGAGGATACGCTGGTGAGTGGAGCCAGGCACACTTTCC
|
GAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTATGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAGGTGGGTAGTACCTCCTAGTAAACTCTACATTAGTGGTTCTGCGTATATTACAAATAAAATCTCCTCAGGTCATTGTAATGTATACCCTGGTTCAAGAACTACTACAGATAGTTTTTCTCTATTTTCCATTAGGAGAGTTAGTACACTGGTCTAGAGCAGTTCACAAACCAAGGCCAGTTTGCAGGCTGGCTGTTTTTGTAAGTCAAGTTTTATTGAAACACAGCCGTGTCCCTTCCTTTACGTATAGTCTGGCTGTTATTGTGTCACATTGGTAGAGTTAAGTAATTGCAACAGAAATTGGATGACATACAGGGCTTAAAATATCACTATCTGGCCTTTCATCACAGGGGTCCCCAACTCCCGGGCTGTGGCCTGTTTGGAGCCGGGCTGCACAGCAGGAGGTGACCAGCGGGCCAGTGAACATTACCATCTGAGCCTCGCCTCCTGTCAGATCAGTGGTGGCATTAAATTATCATAGAAGCGTGGACCCTACTGTGAATTGTGCATACAAGGGATCTAGGTTGCGCTCTCCTTATGAGAATTTAACTAATGCCTGATGATCTGAGGTGGAACAGTTTCATCCCCAAACGATTCCCTGCCAAACCCAGTCTGTGGAAAAATTGTCTTCCACAAAACCAGTCCTTGGTGCTGAAAAGGTTGGGGACTGTTGCTTTTCAGAAAATGGTTACCAACCTCTAGCCTAGACCGGTGTTCAACTCTGACTACAGAGTAGACTCACCTGGAGAGCTTAAAAAAAATGCCTTGCCTAATTCTTGGGGATTCTGAATGTTAAAGCTCCCAGGTGATTCTGATTTGTAGTCAGAGTTGAGAACCACTGGTCTAGAGTCTATTGAATTTGCATAATGTTGTAGATGGTGGTGGAGAGCCTCATGTAGATGAAAGCTTAGAGACATTCCCAGTGTACAGATGGACCCAGTTCCATTCTACTGGGTGTTCACCATTTATATTGCAATAAACAGAATAGCCCTCTATTCTCATGCTTCACTTTCCCAAGATTTTGCAGGGTGAAGGTTGTTGAAAATTAATTCCATTCATATCTATCTCTCAGTCTTTTCCTTGCCTCAAATGCTTACTGGTTTTTTCCTCTCCCAACTTTTTTGGTATTTCTGTCCAAATCTGATCACCACAGGTATTTGAACAACTTGAAAAGCTCTAGTTCATTCATTCATTCATTTATTCATTCATCTCACATTGATTGGAAACCCTCTTGTGAGTAACATAGAGTCTCTGTTTCCAAGGAGGCTAGAATCTAGTGAGAGAAGACAAACCGATGATAATGTTTTGTGGTAAATGTCATAGCAGCTGTATGCACAGGGGACCATGGAAACCCAAAAGAGAGGAGGGAGCCTAACTCAGCTTGAAAGAGGAGAGCATGTAGTTATTCTTCATGCCTTAGAGAAGCGATGAGCCACTTCCAGCATTTATCTCCCAATGAAAGCATCCATTAAGTACCTTTTATTTACCAGATGCTGTCTTAAGTATAGGGAGACAAATACAATCAAGGCCAAACCTTTTCTCAGGGACACTCATAGTGTAGTGGTGGAAGACAGAGGAGTAAATCAGCAGTTACCAAATCCTGTGATGAGACAGCTGTGACTGGATGGGATGCCAGGAGGAGGGGGAGACACACACCATCATTGGCAGTGGGATTGGTGAGGGCTTCACAGAGGCGGTAACTCTAAGCTGAGTCCAAAAGGGTATTTCTATGAGAATCTAGATCTGCTTGGGTAGTGCTAATTATGGATTTAAAGTCAGAAGGCCTAGGTTGAGATAACCAGCTCTCTCACTGGCTGGCTTTTTGATCTTGGCAAATGACTTAATCTTTTTTGAGTCTCAGTTCTCCCATCTGTATAGTGGAAATCATTTACTTACTTAACAAATGTTTATCAAGTGCTAACTGTGCAAGGCAGTAATATACCAGGTGCTGAGGATACGCTGGTGAGTGGAGCCAGGCACACTTTCC
|
Task1_train_15739
|
A variant has been detected on Chromosome 11 in EXT2 (exostosin glycosyltransferase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Exostoses, multiple, type 2
|
TCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAGGTGGGTAGTACCTCCTAGTAAACTCTACATTAGTGGTTCTGCGTATATTACAAATAAAATCTCCTCAGGTCATTGTAATGTATACCCTGGTTCAAGAACTACTACAGATAGTTTTTCTCTATTTTCCATTAGGAGAGTTAGTACACTGGTCTAGAGCAGTTCACAAACCAAGGCCAGTTTGCAGGCTGGCTGTTTTTGTAAGTCAAGTTTTATTGAAACACAGCCGTGTCCCTTCCTTTACGTATAGTCTGGCTGTTATTGTGTCACATTGGTAGAGTTAAGTAATTGCAACAGAAATTGGATGACATACAGGGCTTAAAATATCACTATCTGGCCTTTCATCACAGGGGTCCCCAACTCCCGGGCTGTGGCCTGTTTGGAGCCGGGCTGCACAGCAGGAGGTGACCAGCGGGCCAGTGAACATTACCATCTGAGCCTCGCCTCCTGTCAGATCAGTGGTGGCATTAAATTATCATAGAAGCGTGGACCCTACTGTGAATTGTGCATACAAGGGATCTAGGTTGCGCTCTCCTTATGAGAATTTAACTAATGCCTGATGATCTGAGGTGGAACAGTTTCATCCCCAAACGATTCCCTGCCAAACCCAGTCTGTGGAAAAATTGTCTTCCACAAAACCAGTCCTTGGTGCTGAAAAGGTTGGGGACTGTTGCTTTTCAGAAAATGGTTACCAACCTCTAGCCTAGACCGGTGTTCAACTCTGACTACAGAGTAGACTCACCTGGAGAGCTTAAAAAAAATGCCTTGCCTAATTCTTGGGGATTCTGAATGTTAAAGCTCCCAGGTGATTCTGATTTGTAGTCAGAGTTGAGAACCACTGGTCTAGAGTCTATTGAATTTGCATAATGTTGTAGATGGTGGTGGAGAGCCTCATGTAGATGAAAGCTTAGAGACATTCCCAGTGTACAGATGGACCCAGTTCCATTCTACTGGGTGTTCACCATTTATATTGCAATAAACAGAATAGCCCTCTATTCTCATGCTTCACTTTCCCAAGATTTTGCAGGGTGAAGGTTGTTGAAAATTAATTCCATTCATATCTATCTCTCAGTCTTTTCCTTGCCTCAAATGCTTACTGGTTTTTTCCTCTCCCAACTTTTTTGGTATTTCTGTCCAAATCTGATCACCACAGGTATTTGAACAACTTGAAAAGCTCTAGTTCATTCATTCATTCATTTATTCATTCATCTCACATTGATTGGAAACCCTCTTGTGAGTAACATAGAGTCTCTGTTTCCAAGGAGGCTAGAATCTAGTGAGAGAAGACAAACCGATGATAATGTTTTGTGGTAAATGTCATAGCAGCTGTATGCACAGGGGACCATGGAAACCCAAAAGAGAGGAGGGAGCCTAACTCAGCTTGAAAGAGGAGAGCATGTAGTTATTCTTCATGCCTTAGAGAAGCGATGAGCCACTTCCAGCATTTATCTCCCAATGAAAGCATCCATTAAGTACCTTTTATTTACCAGATGCTGTCTTAAGTATAGGGAGACAAATACAATCAAGGCCAAACCTTTTCTCAGGGACACTCATAGTGTAGTGGTGGAAGACAGAGGAGTAAATCAGCAGTTACCAAATCCTGTGATGAGACAGCTGTGACTGGATGGGATGCCAGGAGGAGGGGGAGACACACACCATCATTGGCAGTGGGATTGGTGAGGGCTTCACAGAGGCGGTAACTCTAAGCTGAGTCCAAAAGGGTATTTCTATGAGAATCTAGATCTGCTTGGGTAGTGCTAATTATGGATTTAAAGTCAGAAGGCCTAGGTTGAGATAACCAGCTCTCTCACTGGCTGGCTTTTTGATCTTGGCAAATGACTTAATCTTTTTTGAGTCTCAGTTCTCCCATCTGTATAGTGGAAATCATTTACTTACTTAACAAATGTTTATCAAGTGCTAACTGTGCAAGGCAGTAATATACCAGGTGCTGAGGATACGCTGGTGAGTGGAGCCAGGCACACTTTCCGTCCTAATGGACTAGCCTAGTTGGCAGAAGTGAGGT
|
TCAGTGTTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAAGGCTCAGGAGAGTTTGCTTACATGGGTTAAAATTGAGCCCAGCGAACCTGAGTTGTTTTCAGCATGCAACTAGAATTACCCAAGGGGAAGAAAACATAGCATTGCTCTTTACTGGACATGTAGACCTTCAGGTACTTGGATGTCTGGTGTCTTGTGTTCGTGCAAAGCTGCTTGGCCTATGAGAGTCTATACTCCTTTCAGATATTCATTATACTTCAAAAAGACAAGTCTCATAGATTCGCAGACAAGCCACATGGACAAAGCAGGCAAATGTATCTTGCTTTTACCCCCATATTCATAAGGCAGTCCAGAGAAATTTTCTTCTTTGAGGTGGCAACTTGCATCCCTTGACCATGCTGGCCTACAGAGCCACAGTGAACTTTCCCTGGGAGTGGAGGGGTTTAGGGGTTGTTTTGATTGTTTTGCTATTTGGAGTTCTTGCCACCTTTAGCATCTCCTGTCAGTAGCATGTCCTTTATTTACATAGTGGGAATGGCTGTACTTCCATAACCATAGGGAAAGCGGTCTCTTTGGGGATGTTTTATATGTAGGATATTTGACATTCCAAGGGTATGGGGGCTAGGAAATGAGAAATTGAGCTTTGTTCACTTAAATACTTAAAATGGACACAGGTTAGCTCAAGGAGAAACACAAAGGAGCTGGTGTGATTTTTTTTTTTTTAATCTCCAGAGAGCTTGCCCATACTGGGATTGTAAAAATACATTCAAAAAGTGCTGCACTCCTCCTGGAATGTCTGGCTGGTAACAGTGGTGATGAGGGCAGGAGTATTTATAGTAACCTTTGTCTAGACAGGAAAAATGGTTATCAGCACGTGTGTCCACATCTGGATGCTGACTCTTGAGGTCAGGGGAGCTTTCCACCTGCACCTCCGGGTACCACGATGACTTCTCTTCCTCTCCTCTTGCTGCTTTTCTCATTTATCCCCAGAGGTGTTTGGAATATCGAATTCCTTTATTTCTTTTTCTGAACTTTCCTTTTCTCTAGCTTTAAAGATTAGTTTTTGGTTTTTTTAAAAAATCTTTTTCCTCCTTCTTAAGAGGCAAAATCTGGGAGAAACAGAATGTTAGGTAGTTAAGGTTTCTGTATTTTGGTTTACCTATTGCAGCTGTTTTTTCTGTGGTACATCTCTCCTTTTCCCAAGTATTCCCCACATTGAGGGGGTTTGAGGGAGTGAATGAGGAAGAAATTTTTCATTAGATTTTTTTTATAGAACATATTAGTCTTAATATCTTTTCAAAGGCATTGAATTCATGAAATGAGTATCTTCTATATAAAAAGCACACTGTTAGATGCTATGGGGGGTAGAAACATGAAAAGAGATTTGATACCTTCCCTTTAGGGGGTCTTGTAGAAAGCCTGAAATTCCCAGACAAAATAATTCCATTACAAGGTAGGCTGAGGTAAGTACTGTAAGAGATGTCAGACAGTGTGCCGTGGTGTGTTTACATAGTACACTAGGGCCTAAAGAGACCCATTTGCAGGAAGTCACGTTGTTAGCTGTCTAAGGGAAGACTTTGACATTGACCTTGAACATTTTCAGAAGGCCAACAGTGGTGGCATTGAAGCAATACTGAAGAGTAGAAATATTAATACAAAACATTGCAGCCATTTAAACTTTTCAAGTTTTACAGGTGTGAGCTGTTGTCTTTTGGCATTTTTGTGTCAAGATGCCTCAGTATTGCTTGGCGTCAACCCTTGTAGAAACTTTGTGGTCTGTAGGGATCAAAGTTAGTGGATCAGCAAAACTAGTTTGTAATCTCTTGCCTCTTTGTGTTCCTGCAGGAGGCTACTTTCTGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCTTTTCTCTGAAGTTCTTGACTGGAAGAGGTGGGTAGTACCTCCTAGTAAACTCTACATTAGTGGTTCTGCGTATATTACAAATAAAATCTCCTCAGGTCATTGTAATGTATACCCTGGTTCAAGAACTACTACAGATAGTTTTTCTCTATTTTCCATTAGGAGAGTTAGTACACTGGTCTAGAGCAGTTCACAAACCAAGGCCAGTTTGCAGGCTGGCTGTTTTTGTAAGTCAAGTTTTATTGAAACACAGCCGTGTCCCTTCCTTTACGTATAGTCTGGCTGTTATTGTGTCACATTGGTAGAGTTAAGTAATTGCAACAGAAATTGGATGACATACAGGGCTTAAAATATCACTATCTGGCCTTTCATCACAGGGGTCCCCAACTCCCGGGCTGTGGCCTGTTTGGAGCCGGGCTGCACAGCAGGAGGTGACCAGCGGGCCAGTGAACATTACCATCTGAGCCTCGCCTCCTGTCAGATCAGTGGTGGCATTAAATTATCATAGAAGCGTGGACCCTACTGTGAATTGTGCATACAAGGGATCTAGGTTGCGCTCTCCTTATGAGAATTTAACTAATGCCTGATGATCTGAGGTGGAACAGTTTCATCCCCAAACGATTCCCTGCCAAACCCAGTCTGTGGAAAAATTGTCTTCCACAAAACCAGTCCTTGGTGCTGAAAAGGTTGGGGACTGTTGCTTTTCAGAAAATGGTTACCAACCTCTAGCCTAGACCGGTGTTCAACTCTGACTACAGAGTAGACTCACCTGGAGAGCTTAAAAAAAATGCCTTGCCTAATTCTTGGGGATTCTGAATGTTAAAGCTCCCAGGTGATTCTGATTTGTAGTCAGAGTTGAGAACCACTGGTCTAGAGTCTATTGAATTTGCATAATGTTGTAGATGGTGGTGGAGAGCCTCATGTAGATGAAAGCTTAGAGACATTCCCAGTGTACAGATGGACCCAGTTCCATTCTACTGGGTGTTCACCATTTATATTGCAATAAACAGAATAGCCCTCTATTCTCATGCTTCACTTTCCCAAGATTTTGCAGGGTGAAGGTTGTTGAAAATTAATTCCATTCATATCTATCTCTCAGTCTTTTCCTTGCCTCAAATGCTTACTGGTTTTTTCCTCTCCCAACTTTTTTGGTATTTCTGTCCAAATCTGATCACCACAGGTATTTGAACAACTTGAAAAGCTCTAGTTCATTCATTCATTCATTTATTCATTCATCTCACATTGATTGGAAACCCTCTTGTGAGTAACATAGAGTCTCTGTTTCCAAGGAGGCTAGAATCTAGTGAGAGAAGACAAACCGATGATAATGTTTTGTGGTAAATGTCATAGCAGCTGTATGCACAGGGGACCATGGAAACCCAAAAGAGAGGAGGGAGCCTAACTCAGCTTGAAAGAGGAGAGCATGTAGTTATTCTTCATGCCTTAGAGAAGCGATGAGCCACTTCCAGCATTTATCTCCCAATGAAAGCATCCATTAAGTACCTTTTATTTACCAGATGCTGTCTTAAGTATAGGGAGACAAATACAATCAAGGCCAAACCTTTTCTCAGGGACACTCATAGTGTAGTGGTGGAAGACAGAGGAGTAAATCAGCAGTTACCAAATCCTGTGATGAGACAGCTGTGACTGGATGGGATGCCAGGAGGAGGGGGAGACACACACCATCATTGGCAGTGGGATTGGTGAGGGCTTCACAGAGGCGGTAACTCTAAGCTGAGTCCAAAAGGGTATTTCTATGAGAATCTAGATCTGCTTGGGTAGTGCTAATTATGGATTTAAAGTCAGAAGGCCTAGGTTGAGATAACCAGCTCTCTCACTGGCTGGCTTTTTGATCTTGGCAAATGACTTAATCTTTTTTGAGTCTCAGTTCTCCCATCTGTATAGTGGAAATCATTTACTTACTTAACAAATGTTTATCAAGTGCTAACTGTGCAAGGCAGTAATATACCAGGTGCTGAGGATACGCTGGTGAGTGGAGCCAGGCACACTTTCCGTCCTAATGGACTAGCCTAGTTGGCAGAAGTGAGGT
|
Task1_train_15740
|
This alteration occurs within gene ALX4 (ALX homeobox 4) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Parietal foramina 2
|
ATTCACCTCCAGCTCCTCCCCAGGCCCCTCACATCCATAGGCACCTGAGCAAGGTGAGCAGACCTCAACTCGGAGAGCTTTGGCCTCGCAGGTTCCCTTGGGCCCCCACCAGTAGCAGGGAAGATGGAGGGGTTGGGTGAGGTGGGCGGCAGGGACCTAAACCTCTCAGAAACCAAGGGTCAGTGGCTGAGGTTCCAGGGCCTGAACTAGGAGGCTTCAGAACTAACTCAGGATGGAAGGGGCTGCCTCAGGAGTGGACAGCCAGATCTGAGACCGGACCTCCTCGTGCCAAAGGGGCGAGGGCATGTGCAGGGATGAGTTGGCCATCTTATCTTCCATCTGTGCCACTGGGCTTCCCTTCCCTCCCCAACGTTCACCTGGGGCTCCCATCTTCCTCTACCTTCTAGGCACGTATAAGGAGGTAGAATTAGGGTGTGGGGGAGACCCGGGAACCTCTCAGCTTATGCACACGGGATTCCTGGTAACCTCATGTGGGCTTCTGCTGGCCTGCCCTCCTGCATGTGTCTGGAGCACACTCGAGGGAGGCATTTTAAAGCAGGGAGAAAGAGCTCAGCCCCCATCCTGGAGGGAACCGCATTTCTCTCTGCGGTGCAGGGGAAGGGGGACCGGTTGGCCTCCATCACCCCCTCTCAGAAGAGGTCTGAGCACACACTATGTGGTGCTGTAGGTGAGGTGGGGGTAGGAGGGGTGAACAGGGCCCTGTGTTGGGTTCTCCCTCCAGCTGTGCGCTCAGGCAGCAGAGCTCAAAGCCAAGGAGGGAGCTAGAGTTCCATCCTGGGAGGACAGAGGGAGGCTGAGTTTAGGGAGGGAGAGGGGAGAAAGAGAATGGAAGAACATAGTGCGAGCTGATGCTGATGGTGCCTGTGTGAGACACCCCATATTCCTCAGCCTCACCTCCAGGCCTGTGCCCTGCCCTCCTGCCCCATGAATCCTGGGCTGGGGGAGAGGGAACAGAGGGCTGGTCTGGTTGGAGAGCCAGAGACCATTTGCTAGCACAGAACCAGGTCAGGGAGAAGTAAAGGAGGCAGGGGCGCCCGTGCTACTGGCTGGCTGCTGAGCAGGGCCAGGTTGGGAGCTGAGGTGGAGGCCATGCCAGAATGAGGCCTGAGCAGGTAGGGAGCAGCCGCTTCTGCTGGGCAGGCTGAGTGGGGGTCAGGAGAGGACTTGGACTTGGCCAAAAACACATCTCTCTAAGCATCCCATGTGCCTGATGTGACTCAATACTTCTCATCCCTTGCATCTCACACTAGAACAGGGGACTGGCTGACAGACACCTAGGGAAAATGCTCTGGGGGGAGGGGAGGACAGGGCCCCAGAAGCTGAGCACAGGCACACAAGCTTTTTGAAACTGTACAATTCACAAAATACTTTTGCATGATTGAATTTAGACCTTACAACTGCCTGACAACAGAGCTGAGCAGATGCTTTTACCATGTCCAAGGTACAGGTGAAGAAACTGAGGCTCAGAGATTTGAGACTTGCCTAAAGTGAGAAAGACCTGGAGCTGGAAAGATAACCTAAGTCCCCGGACTCAGAATCCCAAGCTCATTCCAACTTGGCCACGAGTCCTGGAGATTTCAGAGCTCGCTTTCTGAAGAGACCCTCCGAGCGGTATCTGAGGGCCTGGTGGCCTTCTGCCTGCCTTGGTTCCGATGCCCACAGCAAAAGTGGCCAAAGCTAGTGGAGGAAAGAGCCGTTCTCACTGCCCCAACCTTCCCTTCCCTAAAGTTCAGCCAAGCCTGGTTCAATGATTAGTTGGATAGATTAACCCTGGGCCTCCCACACTCTGGTATAAACAGGCACACCCCTGGAATGAGACGGAAGGGCAGCCTGGAGCCATAAGTCATCTCGGGGTGCCTGGGCTCTCCTCCAAGGGGCTCATTCTCAGAGCACCAGGGGCTGGGGATCGGTGGCGGCAGCTCAGGGCGGGACTTACCTGGGCGTAGTTCTCAGCTCGGGTGAGGAGGGGCAGCTCATATGCAGTGGAGAAGTGGGTTCGAACCTGCTGCATCTGCCCAAAACGCTCCCGCTTCCTCCACTTGGCCCTTCGGTTCTGGAACCAGACCTACAAGACGCGAAAAAGCCATTGTCACCAGGGTGAGATGCCCGCCTGGAGGCCTCACTTTCAGGCAGTGCAAACTGTTCCCTTGAGCCCCCCATCAGTTGCAGTGCGTTTGGGAAACGGTGCGGCCACACATAAATATCAACCTTGGTCTTTGTCCTCAAGAGCTGACAATCTAGAATCATCCACTCTGAGCTGGGAAGGTATCTTACCCCCACTAGCCATGGGCGTGATCCTGAGCCAGAACTTTTATTTTTCTAAGCTTGAGAATCTAGAGCAGCCAAGTGTCACCACCTATAAAACAAGTCACTGGTCATCTTAGCAGTCATCTAAGCAGACTCCTGTGGAGAAGCTGATAAAAGCTACAAATGCTCCTCCAGATGTGTTCTCCTAGACAATCACACACAGTTTTGCCACAGTTTTCCAAAAGGTTCATGGCTCTCTAAGGCTTATTGGTCCAGATTCACAATGCCTTCCTCCCTGCATCCTGTCTGCAGCCTTCTTGTTGGAGACAGTCTCCCAGCTCAGAACTCCCCTGTGTTAAAGGGAGAACAGGGGCTCTGCTGGGCAACAGAGGCAGTCAGGGAAGACTTCCTGGAGGAGGGACAGGAGCTGGGCCTTGAATGGTTGGCTGAAAGGAGGAAAGCCAAGGCCTAGGTTTAGAAACAGCAAGGCATACTCCAAAAACCTAAAGAGGTCAATTTGAAGGAAGCGGTGGGAGAGAAAGAAACAGAGTCAGATCGCAGGGGGCCTTGACTGCCAAGTGAAGGGTTTTTCCCTTGGTGCTGTCTGTAGAGGCAGTTGCTATAAAATCTTGTGTAGAAGCGTGGCCTGATGGTGAGAGGAAGTGGAGGCCAACCCGTCACTGAGCACAAGTGGATGGGATGTTGGCCTGATTGGGAGCCCAACGGGGGAGGGGAGGTCTCTGAGTCAGCTGTGAGCACTGGGGTTTTTGGTGACGGGGAGTATTGGGTCCTTTTCCTTTGCACGAGCATTTCTGGAAGGCTGAGAACTTTCCCAAGGCTCAAGAGCAAGAGCTGCCCTACCCCTGGCCCATGACTTAGGATCTGGAGAAGGGGTGATGGGGACGGGGTGGGTGAGAGAGGGAGAGTGAGGAGGGATCAGCTTCCAGGCCAGGAATGGCTTTAGGCTGATTCAGAGATGGACCGTGGTGCTCCTCAGAGGGAGGCCTCTGCCAGCTTGATGTGCACTTGTCTGCTGGCTTTGCAGACTCAGATGCAAGTGGGCACACCTCAGACAGCACGCTGCAGACCGGGAGAACAGAGCCATGACAATAGCCTCAGCTGCAGAGCCATAAGGAGCCTTGCCAGGCCCTTCCAGGCCCAGGCATCAAGAAAGCCAACTTTCCTGAGGTCCAGTCCCTGCTCTCCAGGTGGAAACATTTCTCCATCCATCACGACCAATGCAGCTGCTGAGCTAAATATAGGAGTCAGCTCTCAAAATTCCTCTGCCTCAGAGCCTTTGAGCTTCCTAGGAACCACTGCGAGGAGGGGAGAAGGAGGTGTGGACGTGCTTCCTCACAGACGCTGCCTGGCCTCTTTGGGCATCCAGTGTAGCTGGCCAATGGACAGGCTCATAGGAGCACTGGTATTGCCAAGGGCCTCAGTTTCTGCATGGCGAATGGTACCTCATAGTCGCAGCAGGGGAGATAGATGGGAAATGCAGTCCAAGAATGTTTAGAGTACTTCCCATTTGTTTCTTTACAGCTCCTGACCTTTCTCACTGTCTTTTGCTAGAGGAAAGAGGTCAAGGAAGATGGGGATGTATCTCATGTTACTGTGAGGAGGGTGGGGGTGAGCAGGGGTGTACATTATTATGTTTCTCCACTCCTGTACCAACTCACTTTCCCCTCCCTAATCCTAAGCATGTGTGTGCGTGCACGAGTGTACCCACTAGTGTGGCTACACGCACGTGCATGTGTGCACACACATTGACTGGGGGAGGAGAAGCCTCTTCCTTAGAAACGGACCCTCTCCCCAGTTTGGGGTCTCA
|
ATTCACCTCCAGCTCCTCCCCAGGCCCCTCACATCCATAGGCACCTGAGCAAGGTGAGCAGACCTCAACTCGGAGAGCTTTGGCCTCGCAGGTTCCCTTGGGCCCCCACCAGTAGCAGGGAAGATGGAGGGGTTGGGTGAGGTGGGCGGCAGGGACCTAAACCTCTCAGAAACCAAGGGTCAGTGGCTGAGGTTCCAGGGCCTGAACTAGGAGGCTTCAGAACTAACTCAGGATGGAAGGGGCTGCCTCAGGAGTGGACAGCCAGATCTGAGACCGGACCTCCTCGTGCCAAAGGGGCGAGGGCATGTGCAGGGATGAGTTGGCCATCTTATCTTCCATCTGTGCCACTGGGCTTCCCTTCCCTCCCCAACGTTCACCTGGGGCTCCCATCTTCCTCTACCTTCTAGGCACGTATAAGGAGGTAGAATTAGGGTGTGGGGGAGACCCGGGAACCTCTCAGCTTATGCACACGGGATTCCTGGTAACCTCATGTGGGCTTCTGCTGGCCTGCCCTCCTGCATGTGTCTGGAGCACACTCGAGGGAGGCATTTTAAAGCAGGGAGAAAGAGCTCAGCCCCCATCCTGGAGGGAACCGCATTTCTCTCTGCGGTGCAGGGGAAGGGGGACCGGTTGGCCTCCATCACCCCCTCTCAGAAGAGGTCTGAGCACACACTATGTGGTGCTGTAGGTGAGGTGGGGGTAGGAGGGGTGAACAGGGCCCTGTGTTGGGTTCTCCCTCCAGCTGTGCGCTCAGGCAGCAGAGCTCAAAGCCAAGGAGGGAGCTAGAGTTCCATCCTGGGAGGACAGAGGGAGGCTGAGTTTAGGGAGGGAGAGGGGAGAAAGAGAATGGAAGAACATAGTGCGAGCTGATGCTGATGGTGCCTGTGTGAGACACCCCATATTCCTCAGCCTCACCTCCAGGCCTGTGCCCTGCCCTCCTGCCCCATGAATCCTGGGCTGGGGGAGAGGGAACAGAGGGCTGGTCTGGTTGGAGAGCCAGAGACCATTTGCTAGCACAGAACCAGGTCAGGGAGAAGTAAAGGAGGCAGGGGCGCCCGTGCTACTGGCTGGCTGCTGAGCAGGGCCAGGTTGGGAGCTGAGGTGGAGGCCATGCCAGAATGAGGCCTGAGCAGGTAGGGAGCAGCCGCTTCTGCTGGGCAGGCTGAGTGGGGGTCAGGAGAGGACTTGGACTTGGCCAAAAACACATCTCTCTAAGCATCCCATGTGCCTGATGTGACTCAATACTTCTCATCCCTTGCATCTCACACTAGAACAGGGGACTGGCTGACAGACACCTAGGGAAAATGCTCTGGGGGGAGGGGAGGACAGGGCCCCAGAAGCTGAGCACAGGCACACAAGCTTTTTGAAACTGTACAATTCACAAAATACTTTTGCATGATTGAATTTAGACCTTACAACTGCCTGACAACAGAGCTGAGCAGATGCTTTTACCATGTCCAAGGTACAGGTGAAGAAACTGAGGCTCAGAGATTTGAGACTTGCCTAAAGTGAGAAAGACCTGGAGCTGGAAAGATAACCTAAGTCCCCGGACTCAGAATCCCAAGCTCATTCCAACTTGGCCACGAGTCCTGGAGATTTCAGAGCTCGCTTTCTGAAGAGACCCTCCGAGCGGTATCTGAGGGCCTGGTGGCCTTCTGCCTGCCTTGGTTCCGATGCCCACAGCAAAAGTGGCCAAAGCTAGTGGAGGAAAGAGCCGTTCTCACTGCCCCAACCTTCCCTTCCCTAAAGTTCAGCCAAGCCTGGTTCAATGATTAGTTGGATAGATTAACCCTGGGCCTCCCACACTCTGGTATAAACAGGCACACCCCTGGAATGAGACGGAAGGGCAGCCTGGAGCCATAAGTCATCTCGGGGTGCCTGGGCTCTCCTCCAAGGGGCTCATTCTCAGAGCACCAGGGGCTGGGGATCGGTGGCGGCAGCTCAGGGCGGGACTTACCTGGGCGTAGTTCTCAGCTCGGGTGAGGAGGGGCAGCTCATATGCAGTGGAGAAGTGGGTTCGAACCTGCTGCATCTGCCCAAAACGCTCCGGCTTCCTCCACTTGGCCCTTCGGTTCTGGAACCAGACCTACAAGACGCGAAAAAGCCATTGTCACCAGGGTGAGATGCCCGCCTGGAGGCCTCACTTTCAGGCAGTGCAAACTGTTCCCTTGAGCCCCCCATCAGTTGCAGTGCGTTTGGGAAACGGTGCGGCCACACATAAATATCAACCTTGGTCTTTGTCCTCAAGAGCTGACAATCTAGAATCATCCACTCTGAGCTGGGAAGGTATCTTACCCCCACTAGCCATGGGCGTGATCCTGAGCCAGAACTTTTATTTTTCTAAGCTTGAGAATCTAGAGCAGCCAAGTGTCACCACCTATAAAACAAGTCACTGGTCATCTTAGCAGTCATCTAAGCAGACTCCTGTGGAGAAGCTGATAAAAGCTACAAATGCTCCTCCAGATGTGTTCTCCTAGACAATCACACACAGTTTTGCCACAGTTTTCCAAAAGGTTCATGGCTCTCTAAGGCTTATTGGTCCAGATTCACAATGCCTTCCTCCCTGCATCCTGTCTGCAGCCTTCTTGTTGGAGACAGTCTCCCAGCTCAGAACTCCCCTGTGTTAAAGGGAGAACAGGGGCTCTGCTGGGCAACAGAGGCAGTCAGGGAAGACTTCCTGGAGGAGGGACAGGAGCTGGGCCTTGAATGGTTGGCTGAAAGGAGGAAAGCCAAGGCCTAGGTTTAGAAACAGCAAGGCATACTCCAAAAACCTAAAGAGGTCAATTTGAAGGAAGCGGTGGGAGAGAAAGAAACAGAGTCAGATCGCAGGGGGCCTTGACTGCCAAGTGAAGGGTTTTTCCCTTGGTGCTGTCTGTAGAGGCAGTTGCTATAAAATCTTGTGTAGAAGCGTGGCCTGATGGTGAGAGGAAGTGGAGGCCAACCCGTCACTGAGCACAAGTGGATGGGATGTTGGCCTGATTGGGAGCCCAACGGGGGAGGGGAGGTCTCTGAGTCAGCTGTGAGCACTGGGGTTTTTGGTGACGGGGAGTATTGGGTCCTTTTCCTTTGCACGAGCATTTCTGGAAGGCTGAGAACTTTCCCAAGGCTCAAGAGCAAGAGCTGCCCTACCCCTGGCCCATGACTTAGGATCTGGAGAAGGGGTGATGGGGACGGGGTGGGTGAGAGAGGGAGAGTGAGGAGGGATCAGCTTCCAGGCCAGGAATGGCTTTAGGCTGATTCAGAGATGGACCGTGGTGCTCCTCAGAGGGAGGCCTCTGCCAGCTTGATGTGCACTTGTCTGCTGGCTTTGCAGACTCAGATGCAAGTGGGCACACCTCAGACAGCACGCTGCAGACCGGGAGAACAGAGCCATGACAATAGCCTCAGCTGCAGAGCCATAAGGAGCCTTGCCAGGCCCTTCCAGGCCCAGGCATCAAGAAAGCCAACTTTCCTGAGGTCCAGTCCCTGCTCTCCAGGTGGAAACATTTCTCCATCCATCACGACCAATGCAGCTGCTGAGCTAAATATAGGAGTCAGCTCTCAAAATTCCTCTGCCTCAGAGCCTTTGAGCTTCCTAGGAACCACTGCGAGGAGGGGAGAAGGAGGTGTGGACGTGCTTCCTCACAGACGCTGCCTGGCCTCTTTGGGCATCCAGTGTAGCTGGCCAATGGACAGGCTCATAGGAGCACTGGTATTGCCAAGGGCCTCAGTTTCTGCATGGCGAATGGTACCTCATAGTCGCAGCAGGGGAGATAGATGGGAAATGCAGTCCAAGAATGTTTAGAGTACTTCCCATTTGTTTCTTTACAGCTCCTGACCTTTCTCACTGTCTTTTGCTAGAGGAAAGAGGTCAAGGAAGATGGGGATGTATCTCATGTTACTGTGAGGAGGGTGGGGGTGAGCAGGGGTGTACATTATTATGTTTCTCCACTCCTGTACCAACTCACTTTCCCCTCCCTAATCCTAAGCATGTGTGTGCGTGCACGAGTGTACCCACTAGTGTGGCTACACGCACGTGCATGTGTGCACACACATTGACTGGGGGAGGAGAAGCCTCTTCCTTAGAAACGGACCCTCTCCCCAGTTTGGGGTCTCA
|
Task1_train_15741
|
A variant affecting Chromosome 11, within the gene ALX4 (ALX homeobox 4), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; not provided
|
GTTAAATTGAAACTTAAACTTGAGTGTGTGAATTTTGTCACCTGTATTTTGGCTACTCATGGGTCTTTTCTTTCTTTCTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGAGACCAACATGGACAACAAAGCAAGACCCCATCTCTACAAAAAATAAAAAAACTTATCCCAGGCGTGGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCCATTGAGCCCACGAAGTTAAGGCTACAGTGAGCCATGATCACACCACTGTACTCCACGCTGGGTGACAGAGAGAGACCCAGTCTCTTTAAAAAAAATAAACAAAAATACCCAAAAGATAAAATGGGCCCAGGCATGGTGGCTCATGCCTATAATTCTAGCACTTTGGGAGGTTGAGGTGGGATGATCACTTTAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATAATCATCTTATTGCACTCCAGCCTGGGTGATAGAATGAGACCCTGTCTCTAAAAAGAAAACAAAAAAAATTTAAAAAATTTTTAAGAAGATAAAATAGGACAGTGTAACAAAAGGTGAGCTGGTTTGCTTCTGTTGTGTTGGGTTGGGTTGAGTTCTATTGGGTTGTGTTGAGTGGGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCTGTTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAAGGGGCTGCATTAGGTTTAGTATGTTGAGTTCCATTGTGTTGTGTTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGGGTTGAGTTCTATTCGGTTGCACTGAGTTGAGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCCATTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAATGGGTTGAGTTGGGTTGAGTGTGTTCAGTTCCATTGTGTTGTGCTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGCACTGAGTTGGGTTGAGTGTGTTGAGTTCCACTGTGTTGTGTTGTGTTGAGTTGAGTTCTATTGGGTTGTGTTCTGTTGGGTTGCAATGAGTTGGGTTGAGTGTTGGGTTCCACTGTATTGTACTGGGTTGGGTGTTTTGGTTGTTGGCTGGTAATAGGGGGGCTACTGCTTTAGCCACAGTGGTCAGGAAGACTTCTCAGAGGAGGTATGAGTTGGGACTTGAAAAATGGAGGGGGATGCAGCCATCTAGGCAGAAGGAAGAGCTAAACTGTTCTCTGTTTCTGCCCACTGGGATGCTGTGGACATTGTCTTCATGTTTGTCCTGTTTCCTGTCTAAGAGATAGGCCTTCTAGAGCAGGGACAAGTAACCCTTCTCTGTGTGAAAGAGCCAGGACTCTTACACTGTGTAAAGCCCAGAAACAGCCAGCAGCAGCCTTCCTGCCCCTCTGCTGGAGGCCCTCCTTCCTTTGCAACCCCCCACCACAGTGCAGAAGCCCAATATTAAAGAGGATAAAAGCAGAGTCGCTCTAGTTGGGACAGGGGCATGAGGGGCAGGCTAGGAGCCCCCACTTTCAGGTTCTCAATGAACTGAGGAAAGGAAAGCCATGGTGTGGTTGGTGGGCAGTCAGGAGACCCCAACTGCAGCCAAGAGCCCAGGGACAGGCTCTGCTTTACCAGCCTCACTCCCAGGTGGCCCTCACTGACCTGCACGCGGGCCTCAGTGAGGTCTGTCCTCATGGCCAGCTGTTCCCGCGCATACACGTCTGGGTAGTGGGTCTTCTGGAAGACCTTCTCCAGCTCCTCCAGCTGGTAGCTGGTGAAGGTGGTCCGGTTCCGCCGCTTCTTGCCCTTGTTGCTCTCTGAGTCGGCCTTCTCCAATGGGCTGGGGAGGTCTGAGCTGGCCCGGTCCTGGGGCCCCTTCACCCCAGCCTCCTTGACACTCAGGTAGCTGCTGTCCATCCCCACAGTGTCAGAGTCAGGGGGTAACTCTGGCTCACCCAGGGAGCTCTCTTTAGCTGAGGGAGGAGGAAACAAAGTCAGAAACCAATGGTTGAACCAAACAAGAGAAGGGGAATGTCAGGGGGAGAGTGGGGCACTCGGGTAGCCACCCCCTGCCTTTTTCCTCTTAGAGCTCATTGGATGCGAGGTCCGGAGACTTGGCTTCTAATTCTGGCTTGCCATTAACTTGCTGTGTGACCTTGGGCAAATCTCTTCCCCAATCTGAGCCTCTTCACCATCATCTTAGACTAGGTCCCTTCCAGCAACAATGTTATGTGAACCTAAGGCAGCCAATCTGACCTCTGTGACCTTTAATCCCCACCTCACTGACCCTGAGCTCCTCTCTCTAGAGGGATTCCCTGCATCAGGACTTTTCTGGGGCCCGAGAATTCTGACCCCAGTGCCATGGCCTCCCTGGGTGGAAGGGAAACTCATTCAGCAGCCATGTCTGGCCCAGTGGGGCTTGGGGTGAGGAGGACCCAGGATTGAGGCAGACAGGAGTGCCCCTCCTTTCCTGGCCTAGTCCCACCAGGAGTTCAGCAGGAGCTGTGGAGACTCTGCCCCAAGAGTCCAGTGCTGAGGAGTCAACACCTCCTTCCCTGCCCCCCAACCCTGCACACTGGTCTCACCTATTGTTCAAGAGAAGGGTCTTTCTTCCTTGGGGGTGCATGGGATTGAGGCATGGGCCACATTTCCTGTTACAAGCAGCTCCTGCCCACTGTTTACTGAGGCTGCCCGGGCACCTTCATCCCCAGCACGCTGACCCCGGGCCTGGGTGGGTGTACATGAGCACAGCTCCCAGCCACTGCGTCTGGCAGATGGACCCCCCACCCACCGGCACATTCCTAGCTCAGGACTGCAAGGACGAGTCAACCCATACACATCAAGAAAGAAGAGGTGGAGGCTGGGGTGGGAGAGTGAGGCAAGAAGCCACTTTACCACCACACAGCCTGGTGAGCTTCCTAGGCAGACACACTCACCTCCTGGCAGAGGGTTTGGGACAACAGTCCCTACCTTTTTGGCACCAGGGACTGGTTTTGTGGAAGATAATTTTTTCCATGGGTGGAGAAGGTTGTGGTGGGGCATGGTTTGGGGATGAAACTGTTCCACCTCAAATCATCAGGCATCAGATTCTCTTAAGGAGCACGCAACCTAGATCCCTCACATGCATGGTTCACAGTAGGATTCACGCCTCTGTGAGAATCTAATGGCACCGCTGATCTGACAGGAGCCAGAACTTGCAGTAATGCTTGCTCACCTGCCGCTCACCTCCTGTGTGCGGCCCGGTTACTAACAGGCCATGGATCGGTACTGGTCCACAGCCTGGGGGCTAAGGACCCCTGGTTTAGGTCATGGACTCTTGATAGCCCCGCCATGAATCCTATGGCCATGACTCCCCAGCTGTGTGCTCAGGAGAGCTTACCTACCCGCTATGTGCCTCAGTTTCCCCCTCTATAAAATGGGGATGAAGATACTTCTAGGATCTTCCTCATAGGGTAGCTGTGGGAAATAAAGAGGCTAGTGTGCTAGCTATGTAGTTTTGCCATTATTGATATTCACATTTCTAGTCTGGACTTGCAAACCCACAGACCCTGTGAACATTAGAGGACTCCGACCCTGGAGAAGTCCTCCAAGCATGCAGGCCCTTGGGCACAGGAGCATGTGCAGGGCGTGCACAGATGCCTAGGGAAGGGCAGCCAACTGGGTGTCTGCAGATGTGGGTGTGAACTCCTCGAGAACTGTATTCCTTGTCTGTAACTTGGGGAAAAGGAACTTGTTGAGTGAAAGAACAAACACAATT
|
GTTAAATTGAAACTTAAACTTGAGTGTGTGAATTTTGTCACCTGTATTTTGGCTACTCATGGGTCTTTTCTTTCTTTCTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGAGACCAACATGGACAACAAAGCAAGACCCCATCTCTACAAAAAATAAAAAAACTTATCCCAGGCGTGGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCCATTGAGCCCACGAAGTTAAGGCTACAGTGAGCCATGATCACACCACTGTACTCCACGCTGGGTGACAGAGAGAGACCCAGTCTCTTTAAAAAAAATAAACAAAAATACCCAAAAGATAAAATGGGCCCAGGCATGGTGGCTCATGCCTATAATTCTAGCACTTTGGGAGGTTGAGGTGGGATGATCACTTTAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATAATCATCTTATTGCACTCCAGCCTGGGTGATAGAATGAGACCCTGTCTCTAAAAAGAAAACAAAAAAAATTTAAAAAATTTTTAAGAAGATAAAATAGGACAGTGTAACAAAAGGTGAGCTGGTTTGCTTCTGTTGTGTTGGGTTGGGTTGAGTTCTATTGGGTTGTGTTGAGTGGGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCTGTTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAAGGGGCTGCATTAGGTTTAGTATGTTGAGTTCCATTGTGTTGTGTTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGGGTTGAGTTCTATTCGGTTGCACTGAGTTGAGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCCATTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAATGGGTTGAGTTGGGTTGAGTGTGTTCAGTTCCATTGTGTTGTGCTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGCACTGAGTTGGGTTGAGTGTGTTGAGTTCCACTGTGTTGTGTTGTGTTGAGTTGAGTTCTATTGGGTTGTGTTCTGTTGGGTTGCAATGAGTTGGGTTGAGTGTTGGGTTCCACTGTATTGTACTGGGTTGGGTGTTTTGGTTGTTGGCTGGTAATAGGGGGGCTACTGCTTTAGCCACAGTGGTCAGGAAGACTTCTCAGAGGAGGTATGAGTTGGGACTTGAAAAATGGAGGGGGATGCAGCCATCTAGGCAGAAGGAAGAGCTAAACTGTTCTCTGTTTCTGCCCACTGGGATGCTGTGGACATTGTCTTCATGTTTGTCCTGTTTCCTGTCTAAGAGATAGGCCTTCTAGAGCAGGGACAAGTAACCCTTCTCTGTGTGAAAGAGCCAGGACTCTTACACTGTGTAAAGCCCAGAAACAGCCAGCAGCAGCCTTCCTGCCCCTCTGCTGGAGGCCCTCCTTCCTTTGCAACCCCCCACCACAGTGCAGAAGCCCAATATTAAAGAGGATAAAAGCAGAGTCGCTCTAGTTGGGACAGGGGCATGAGGGGCAGGCTAGGAGCCCCCACTTTCAGGTTCTCAATGAACTGAGGAAAGGAAAGCCATGGTGTGGTTGGTGGGCAGTCAGGAGACCCCAACTGCAGCCAAGAGCCCAGGGACAGGCTCTGCTTTACCAGCCTCACTCCCAGGTGGCCCTCACTGACCTGCACGCGGGCCTCAGTGAGGTCTGTCCTCATGGCCAGCTGTTCCCACGCATACACGTCTGGGTAGTGGGTCTTCTGGAAGACCTTCTCCAGCTCCTCCAGCTGGTAGCTGGTGAAGGTGGTCCGGTTCCGCCGCTTCTTGCCCTTGTTGCTCTCTGAGTCGGCCTTCTCCAATGGGCTGGGGAGGTCTGAGCTGGCCCGGTCCTGGGGCCCCTTCACCCCAGCCTCCTTGACACTCAGGTAGCTGCTGTCCATCCCCACAGTGTCAGAGTCAGGGGGTAACTCTGGCTCACCCAGGGAGCTCTCTTTAGCTGAGGGAGGAGGAAACAAAGTCAGAAACCAATGGTTGAACCAAACAAGAGAAGGGGAATGTCAGGGGGAGAGTGGGGCACTCGGGTAGCCACCCCCTGCCTTTTTCCTCTTAGAGCTCATTGGATGCGAGGTCCGGAGACTTGGCTTCTAATTCTGGCTTGCCATTAACTTGCTGTGTGACCTTGGGCAAATCTCTTCCCCAATCTGAGCCTCTTCACCATCATCTTAGACTAGGTCCCTTCCAGCAACAATGTTATGTGAACCTAAGGCAGCCAATCTGACCTCTGTGACCTTTAATCCCCACCTCACTGACCCTGAGCTCCTCTCTCTAGAGGGATTCCCTGCATCAGGACTTTTCTGGGGCCCGAGAATTCTGACCCCAGTGCCATGGCCTCCCTGGGTGGAAGGGAAACTCATTCAGCAGCCATGTCTGGCCCAGTGGGGCTTGGGGTGAGGAGGACCCAGGATTGAGGCAGACAGGAGTGCCCCTCCTTTCCTGGCCTAGTCCCACCAGGAGTTCAGCAGGAGCTGTGGAGACTCTGCCCCAAGAGTCCAGTGCTGAGGAGTCAACACCTCCTTCCCTGCCCCCCAACCCTGCACACTGGTCTCACCTATTGTTCAAGAGAAGGGTCTTTCTTCCTTGGGGGTGCATGGGATTGAGGCATGGGCCACATTTCCTGTTACAAGCAGCTCCTGCCCACTGTTTACTGAGGCTGCCCGGGCACCTTCATCCCCAGCACGCTGACCCCGGGCCTGGGTGGGTGTACATGAGCACAGCTCCCAGCCACTGCGTCTGGCAGATGGACCCCCCACCCACCGGCACATTCCTAGCTCAGGACTGCAAGGACGAGTCAACCCATACACATCAAGAAAGAAGAGGTGGAGGCTGGGGTGGGAGAGTGAGGCAAGAAGCCACTTTACCACCACACAGCCTGGTGAGCTTCCTAGGCAGACACACTCACCTCCTGGCAGAGGGTTTGGGACAACAGTCCCTACCTTTTTGGCACCAGGGACTGGTTTTGTGGAAGATAATTTTTTCCATGGGTGGAGAAGGTTGTGGTGGGGCATGGTTTGGGGATGAAACTGTTCCACCTCAAATCATCAGGCATCAGATTCTCTTAAGGAGCACGCAACCTAGATCCCTCACATGCATGGTTCACAGTAGGATTCACGCCTCTGTGAGAATCTAATGGCACCGCTGATCTGACAGGAGCCAGAACTTGCAGTAATGCTTGCTCACCTGCCGCTCACCTCCTGTGTGCGGCCCGGTTACTAACAGGCCATGGATCGGTACTGGTCCACAGCCTGGGGGCTAAGGACCCCTGGTTTAGGTCATGGACTCTTGATAGCCCCGCCATGAATCCTATGGCCATGACTCCCCAGCTGTGTGCTCAGGAGAGCTTACCTACCCGCTATGTGCCTCAGTTTCCCCCTCTATAAAATGGGGATGAAGATACTTCTAGGATCTTCCTCATAGGGTAGCTGTGGGAAATAAAGAGGCTAGTGTGCTAGCTATGTAGTTTTGCCATTATTGATATTCACATTTCTAGTCTGGACTTGCAAACCCACAGACCCTGTGAACATTAGAGGACTCCGACCCTGGAGAAGTCCTCCAAGCATGCAGGCCCTTGGGCACAGGAGCATGTGCAGGGCGTGCACAGATGCCTAGGGAAGGGCAGCCAACTGGGTGTCTGCAGATGTGGGTGTGAACTCCTCGAGAACTGTATTCCTTGTCTGTAACTTGGGGAAAAGGAACTTGTTGAGTGAAAGAACAAACACAATT
|
Task1_train_15742
|
This alteration occurs within gene ALX4 (ALX homeobox 4) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Frontonasal dysplasia with alopecia and genital anomaly
|
CATGGGTCTTTTCTTTCTTTCTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGAGACCAACATGGACAACAAAGCAAGACCCCATCTCTACAAAAAATAAAAAAACTTATCCCAGGCGTGGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCCATTGAGCCCACGAAGTTAAGGCTACAGTGAGCCATGATCACACCACTGTACTCCACGCTGGGTGACAGAGAGAGACCCAGTCTCTTTAAAAAAAATAAACAAAAATACCCAAAAGATAAAATGGGCCCAGGCATGGTGGCTCATGCCTATAATTCTAGCACTTTGGGAGGTTGAGGTGGGATGATCACTTTAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATAATCATCTTATTGCACTCCAGCCTGGGTGATAGAATGAGACCCTGTCTCTAAAAAGAAAACAAAAAAAATTTAAAAAATTTTTAAGAAGATAAAATAGGACAGTGTAACAAAAGGTGAGCTGGTTTGCTTCTGTTGTGTTGGGTTGGGTTGAGTTCTATTGGGTTGTGTTGAGTGGGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCTGTTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAAGGGGCTGCATTAGGTTTAGTATGTTGAGTTCCATTGTGTTGTGTTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGGGTTGAGTTCTATTCGGTTGCACTGAGTTGAGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCCATTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAATGGGTTGAGTTGGGTTGAGTGTGTTCAGTTCCATTGTGTTGTGCTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGCACTGAGTTGGGTTGAGTGTGTTGAGTTCCACTGTGTTGTGTTGTGTTGAGTTGAGTTCTATTGGGTTGTGTTCTGTTGGGTTGCAATGAGTTGGGTTGAGTGTTGGGTTCCACTGTATTGTACTGGGTTGGGTGTTTTGGTTGTTGGCTGGTAATAGGGGGGCTACTGCTTTAGCCACAGTGGTCAGGAAGACTTCTCAGAGGAGGTATGAGTTGGGACTTGAAAAATGGAGGGGGATGCAGCCATCTAGGCAGAAGGAAGAGCTAAACTGTTCTCTGTTTCTGCCCACTGGGATGCTGTGGACATTGTCTTCATGTTTGTCCTGTTTCCTGTCTAAGAGATAGGCCTTCTAGAGCAGGGACAAGTAACCCTTCTCTGTGTGAAAGAGCCAGGACTCTTACACTGTGTAAAGCCCAGAAACAGCCAGCAGCAGCCTTCCTGCCCCTCTGCTGGAGGCCCTCCTTCCTTTGCAACCCCCCACCACAGTGCAGAAGCCCAATATTAAAGAGGATAAAAGCAGAGTCGCTCTAGTTGGGACAGGGGCATGAGGGGCAGGCTAGGAGCCCCCACTTTCAGGTTCTCAATGAACTGAGGAAAGGAAAGCCATGGTGTGGTTGGTGGGCAGTCAGGAGACCCCAACTGCAGCCAAGAGCCCAGGGACAGGCTCTGCTTTACCAGCCTCACTCCCAGGTGGCCCTCACTGACCTGCACGCGGGCCTCAGTGAGGTCTGTCCTCATGGCCAGCTGTTCCCGCGCATACACGTCTGGGTAGTGGGTCTTCTGGAAGACCTTCTCCAGCTCCTCCAGCTGGTAGCTGGTGAAGGTGGTCCGGTTCCGCCGCTTCTTGCCCTTGTTGCTCTCTGAGTCGGCCTTCTCCAATGGGCTGGGGAGGTCTGAGCTGGCCCGGTCCTGGGGCCCCTTCACCCCAGCCTCCTTGACACTCAGGTAGCTGCTGTCCATCCCCACAGTGTCAGAGTCAGGGGGTAACTCTGGCTCACCCAGGGAGCTCTCTTTAGCTGAGGGAGGAGGAAACAAAGTCAGAAACCAATGGTTGAACCAAACAAGAGAAGGGGAATGTCAGGGGGAGAGTGGGGCACTCGGGTAGCCACCCCCTGCCTTTTTCCTCTTAGAGCTCATTGGATGCGAGGTCCGGAGACTTGGCTTCTAATTCTGGCTTGCCATTAACTTGCTGTGTGACCTTGGGCAAATCTCTTCCCCAATCTGAGCCTCTTCACCATCATCTTAGACTAGGTCCCTTCCAGCAACAATGTTATGTGAACCTAAGGCAGCCAATCTGACCTCTGTGACCTTTAATCCCCACCTCACTGACCCTGAGCTCCTCTCTCTAGAGGGATTCCCTGCATCAGGACTTTTCTGGGGCCCGAGAATTCTGACCCCAGTGCCATGGCCTCCCTGGGTGGAAGGGAAACTCATTCAGCAGCCATGTCTGGCCCAGTGGGGCTTGGGGTGAGGAGGACCCAGGATTGAGGCAGACAGGAGTGCCCCTCCTTTCCTGGCCTAGTCCCACCAGGAGTTCAGCAGGAGCTGTGGAGACTCTGCCCCAAGAGTCCAGTGCTGAGGAGTCAACACCTCCTTCCCTGCCCCCCAACCCTGCACACTGGTCTCACCTATTGTTCAAGAGAAGGGTCTTTCTTCCTTGGGGGTGCATGGGATTGAGGCATGGGCCACATTTCCTGTTACAAGCAGCTCCTGCCCACTGTTTACTGAGGCTGCCCGGGCACCTTCATCCCCAGCACGCTGACCCCGGGCCTGGGTGGGTGTACATGAGCACAGCTCCCAGCCACTGCGTCTGGCAGATGGACCCCCCACCCACCGGCACATTCCTAGCTCAGGACTGCAAGGACGAGTCAACCCATACACATCAAGAAAGAAGAGGTGGAGGCTGGGGTGGGAGAGTGAGGCAAGAAGCCACTTTACCACCACACAGCCTGGTGAGCTTCCTAGGCAGACACACTCACCTCCTGGCAGAGGGTTTGGGACAACAGTCCCTACCTTTTTGGCACCAGGGACTGGTTTTGTGGAAGATAATTTTTTCCATGGGTGGAGAAGGTTGTGGTGGGGCATGGTTTGGGGATGAAACTGTTCCACCTCAAATCATCAGGCATCAGATTCTCTTAAGGAGCACGCAACCTAGATCCCTCACATGCATGGTTCACAGTAGGATTCACGCCTCTGTGAGAATCTAATGGCACCGCTGATCTGACAGGAGCCAGAACTTGCAGTAATGCTTGCTCACCTGCCGCTCACCTCCTGTGTGCGGCCCGGTTACTAACAGGCCATGGATCGGTACTGGTCCACAGCCTGGGGGCTAAGGACCCCTGGTTTAGGTCATGGACTCTTGATAGCCCCGCCATGAATCCTATGGCCATGACTCCCCAGCTGTGTGCTCAGGAGAGCTTACCTACCCGCTATGTGCCTCAGTTTCCCCCTCTATAAAATGGGGATGAAGATACTTCTAGGATCTTCCTCATAGGGTAGCTGTGGGAAATAAAGAGGCTAGTGTGCTAGCTATGTAGTTTTGCCATTATTGATATTCACATTTCTAGTCTGGACTTGCAAACCCACAGACCCTGTGAACATTAGAGGACTCCGACCCTGGAGAAGTCCTCCAAGCATGCAGGCCCTTGGGCACAGGAGCATGTGCAGGGCGTGCACAGATGCCTAGGGAAGGGCAGCCAACTGGGTGTCTGCAGATGTGGGTGTGAACTCCTCGAGAACTGTATTCCTTGTCTGTAACTTGGGGAAAAGGAACTTGTTGAGTGAAAGAACAAACACAATTAATAAGACGTTTGGGGAGCATTTGACACGACCTTTCACGTGCACGAGCTTTGATCAT
|
CATGGGTCTTTTCTTTCTTTCTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGAGACCAACATGGACAACAAAGCAAGACCCCATCTCTACAAAAAATAAAAAAACTTATCCCAGGCGTGGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCCATTGAGCCCACGAAGTTAAGGCTACAGTGAGCCATGATCACACCACTGTACTCCACGCTGGGTGACAGAGAGAGACCCAGTCTCTTTAAAAAAAATAAACAAAAATACCCAAAAGATAAAATGGGCCCAGGCATGGTGGCTCATGCCTATAATTCTAGCACTTTGGGAGGTTGAGGTGGGATGATCACTTTAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATAATCATCTTATTGCACTCCAGCCTGGGTGATAGAATGAGACCCTGTCTCTAAAAAGAAAACAAAAAAAATTTAAAAAATTTTTAAGAAGATAAAATAGGACAGTGTAACAAAAGGTGAGCTGGTTTGCTTCTGTTGTGTTGGGTTGGGTTGAGTTCTATTGGGTTGTGTTGAGTGGGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCTGTTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAAGGGGCTGCATTAGGTTTAGTATGTTGAGTTCCATTGTGTTGTGTTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGGGTTGAGTTCTATTCGGTTGCACTGAGTTGAGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCCATTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAATGGGTTGAGTTGGGTTGAGTGTGTTCAGTTCCATTGTGTTGTGCTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGCACTGAGTTGGGTTGAGTGTGTTGAGTTCCACTGTGTTGTGTTGTGTTGAGTTGAGTTCTATTGGGTTGTGTTCTGTTGGGTTGCAATGAGTTGGGTTGAGTGTTGGGTTCCACTGTATTGTACTGGGTTGGGTGTTTTGGTTGTTGGCTGGTAATAGGGGGGCTACTGCTTTAGCCACAGTGGTCAGGAAGACTTCTCAGAGGAGGTATGAGTTGGGACTTGAAAAATGGAGGGGGATGCAGCCATCTAGGCAGAAGGAAGAGCTAAACTGTTCTCTGTTTCTGCCCACTGGGATGCTGTGGACATTGTCTTCATGTTTGTCCTGTTTCCTGTCTAAGAGATAGGCCTTCTAGAGCAGGGACAAGTAACCCTTCTCTGTGTGAAAGAGCCAGGACTCTTACACTGTGTAAAGCCCAGAAACAGCCAGCAGCAGCCTTCCTGCCCCTCTGCTGGAGGCCCTCCTTCCTTTGCAACCCCCCACCACAGTGCAGAAGCCCAATATTAAAGAGGATAAAAGCAGAGTCGCTCTAGTTGGGACAGGGGCATGAGGGGCAGGCTAGGAGCCCCCACTTTCAGGTTCTCAATGAACTGAGGAAAGGAAAGCCATGGTGTGGTTGGTGGGCAGTCAGGAGACCCCAACTGCAGCCAAGAGCCCAGGGACAGGCTCTGCTTTACCAGCCTCACTCCCAGGTGGCCCTCACTGACCTGCACGCGGGCCTCAGTGAGGTCTGTCCTCATGGCCAGCTGTTCCCGCGCATACACGTCTGGGTAGTGGGTCTTCTGGAAGACCTTCTCCAGCTCCTCCAGCTCGTAGCTGGTGAAGGTGGTCCGGTTCCGCCGCTTCTTGCCCTTGTTGCTCTCTGAGTCGGCCTTCTCCAATGGGCTGGGGAGGTCTGAGCTGGCCCGGTCCTGGGGCCCCTTCACCCCAGCCTCCTTGACACTCAGGTAGCTGCTGTCCATCCCCACAGTGTCAGAGTCAGGGGGTAACTCTGGCTCACCCAGGGAGCTCTCTTTAGCTGAGGGAGGAGGAAACAAAGTCAGAAACCAATGGTTGAACCAAACAAGAGAAGGGGAATGTCAGGGGGAGAGTGGGGCACTCGGGTAGCCACCCCCTGCCTTTTTCCTCTTAGAGCTCATTGGATGCGAGGTCCGGAGACTTGGCTTCTAATTCTGGCTTGCCATTAACTTGCTGTGTGACCTTGGGCAAATCTCTTCCCCAATCTGAGCCTCTTCACCATCATCTTAGACTAGGTCCCTTCCAGCAACAATGTTATGTGAACCTAAGGCAGCCAATCTGACCTCTGTGACCTTTAATCCCCACCTCACTGACCCTGAGCTCCTCTCTCTAGAGGGATTCCCTGCATCAGGACTTTTCTGGGGCCCGAGAATTCTGACCCCAGTGCCATGGCCTCCCTGGGTGGAAGGGAAACTCATTCAGCAGCCATGTCTGGCCCAGTGGGGCTTGGGGTGAGGAGGACCCAGGATTGAGGCAGACAGGAGTGCCCCTCCTTTCCTGGCCTAGTCCCACCAGGAGTTCAGCAGGAGCTGTGGAGACTCTGCCCCAAGAGTCCAGTGCTGAGGAGTCAACACCTCCTTCCCTGCCCCCCAACCCTGCACACTGGTCTCACCTATTGTTCAAGAGAAGGGTCTTTCTTCCTTGGGGGTGCATGGGATTGAGGCATGGGCCACATTTCCTGTTACAAGCAGCTCCTGCCCACTGTTTACTGAGGCTGCCCGGGCACCTTCATCCCCAGCACGCTGACCCCGGGCCTGGGTGGGTGTACATGAGCACAGCTCCCAGCCACTGCGTCTGGCAGATGGACCCCCCACCCACCGGCACATTCCTAGCTCAGGACTGCAAGGACGAGTCAACCCATACACATCAAGAAAGAAGAGGTGGAGGCTGGGGTGGGAGAGTGAGGCAAGAAGCCACTTTACCACCACACAGCCTGGTGAGCTTCCTAGGCAGACACACTCACCTCCTGGCAGAGGGTTTGGGACAACAGTCCCTACCTTTTTGGCACCAGGGACTGGTTTTGTGGAAGATAATTTTTTCCATGGGTGGAGAAGGTTGTGGTGGGGCATGGTTTGGGGATGAAACTGTTCCACCTCAAATCATCAGGCATCAGATTCTCTTAAGGAGCACGCAACCTAGATCCCTCACATGCATGGTTCACAGTAGGATTCACGCCTCTGTGAGAATCTAATGGCACCGCTGATCTGACAGGAGCCAGAACTTGCAGTAATGCTTGCTCACCTGCCGCTCACCTCCTGTGTGCGGCCCGGTTACTAACAGGCCATGGATCGGTACTGGTCCACAGCCTGGGGGCTAAGGACCCCTGGTTTAGGTCATGGACTCTTGATAGCCCCGCCATGAATCCTATGGCCATGACTCCCCAGCTGTGTGCTCAGGAGAGCTTACCTACCCGCTATGTGCCTCAGTTTCCCCCTCTATAAAATGGGGATGAAGATACTTCTAGGATCTTCCTCATAGGGTAGCTGTGGGAAATAAAGAGGCTAGTGTGCTAGCTATGTAGTTTTGCCATTATTGATATTCACATTTCTAGTCTGGACTTGCAAACCCACAGACCCTGTGAACATTAGAGGACTCCGACCCTGGAGAAGTCCTCCAAGCATGCAGGCCCTTGGGCACAGGAGCATGTGCAGGGCGTGCACAGATGCCTAGGGAAGGGCAGCCAACTGGGTGTCTGCAGATGTGGGTGTGAACTCCTCGAGAACTGTATTCCTTGTCTGTAACTTGGGGAAAAGGAACTTGTTGAGTGAAAGAACAAACACAATTAATAAGACGTTTGGGGAGCATTTGACACGACCTTTCACGTGCACGAGCTTTGATCAT
|
Task1_train_15743
|
The gene ALX4 (ALX homeobox 4) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Parietal foramina 2
|
CTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGAGACCAACATGGACAACAAAGCAAGACCCCATCTCTACAAAAAATAAAAAAACTTATCCCAGGCGTGGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCCATTGAGCCCACGAAGTTAAGGCTACAGTGAGCCATGATCACACCACTGTACTCCACGCTGGGTGACAGAGAGAGACCCAGTCTCTTTAAAAAAAATAAACAAAAATACCCAAAAGATAAAATGGGCCCAGGCATGGTGGCTCATGCCTATAATTCTAGCACTTTGGGAGGTTGAGGTGGGATGATCACTTTAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATAATCATCTTATTGCACTCCAGCCTGGGTGATAGAATGAGACCCTGTCTCTAAAAAGAAAACAAAAAAAATTTAAAAAATTTTTAAGAAGATAAAATAGGACAGTGTAACAAAAGGTGAGCTGGTTTGCTTCTGTTGTGTTGGGTTGGGTTGAGTTCTATTGGGTTGTGTTGAGTGGGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCTGTTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAAGGGGCTGCATTAGGTTTAGTATGTTGAGTTCCATTGTGTTGTGTTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGGGTTGAGTTCTATTCGGTTGCACTGAGTTGAGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCCATTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAATGGGTTGAGTTGGGTTGAGTGTGTTCAGTTCCATTGTGTTGTGCTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGCACTGAGTTGGGTTGAGTGTGTTGAGTTCCACTGTGTTGTGTTGTGTTGAGTTGAGTTCTATTGGGTTGTGTTCTGTTGGGTTGCAATGAGTTGGGTTGAGTGTTGGGTTCCACTGTATTGTACTGGGTTGGGTGTTTTGGTTGTTGGCTGGTAATAGGGGGGCTACTGCTTTAGCCACAGTGGTCAGGAAGACTTCTCAGAGGAGGTATGAGTTGGGACTTGAAAAATGGAGGGGGATGCAGCCATCTAGGCAGAAGGAAGAGCTAAACTGTTCTCTGTTTCTGCCCACTGGGATGCTGTGGACATTGTCTTCATGTTTGTCCTGTTTCCTGTCTAAGAGATAGGCCTTCTAGAGCAGGGACAAGTAACCCTTCTCTGTGTGAAAGAGCCAGGACTCTTACACTGTGTAAAGCCCAGAAACAGCCAGCAGCAGCCTTCCTGCCCCTCTGCTGGAGGCCCTCCTTCCTTTGCAACCCCCCACCACAGTGCAGAAGCCCAATATTAAAGAGGATAAAAGCAGAGTCGCTCTAGTTGGGACAGGGGCATGAGGGGCAGGCTAGGAGCCCCCACTTTCAGGTTCTCAATGAACTGAGGAAAGGAAAGCCATGGTGTGGTTGGTGGGCAGTCAGGAGACCCCAACTGCAGCCAAGAGCCCAGGGACAGGCTCTGCTTTACCAGCCTCACTCCCAGGTGGCCCTCACTGACCTGCACGCGGGCCTCAGTGAGGTCTGTCCTCATGGCCAGCTGTTCCCGCGCATACACGTCTGGGTAGTGGGTCTTCTGGAAGACCTTCTCCAGCTCCTCCAGCTGGTAGCTGGTGAAGGTGGTCCGGTTCCGCCGCTTCTTGCCCTTGTTGCTCTCTGAGTCGGCCTTCTCCAATGGGCTGGGGAGGTCTGAGCTGGCCCGGTCCTGGGGCCCCTTCACCCCAGCCTCCTTGACACTCAGGTAGCTGCTGTCCATCCCCACAGTGTCAGAGTCAGGGGGTAACTCTGGCTCACCCAGGGAGCTCTCTTTAGCTGAGGGAGGAGGAAACAAAGTCAGAAACCAATGGTTGAACCAAACAAGAGAAGGGGAATGTCAGGGGGAGAGTGGGGCACTCGGGTAGCCACCCCCTGCCTTTTTCCTCTTAGAGCTCATTGGATGCGAGGTCCGGAGACTTGGCTTCTAATTCTGGCTTGCCATTAACTTGCTGTGTGACCTTGGGCAAATCTCTTCCCCAATCTGAGCCTCTTCACCATCATCTTAGACTAGGTCCCTTCCAGCAACAATGTTATGTGAACCTAAGGCAGCCAATCTGACCTCTGTGACCTTTAATCCCCACCTCACTGACCCTGAGCTCCTCTCTCTAGAGGGATTCCCTGCATCAGGACTTTTCTGGGGCCCGAGAATTCTGACCCCAGTGCCATGGCCTCCCTGGGTGGAAGGGAAACTCATTCAGCAGCCATGTCTGGCCCAGTGGGGCTTGGGGTGAGGAGGACCCAGGATTGAGGCAGACAGGAGTGCCCCTCCTTTCCTGGCCTAGTCCCACCAGGAGTTCAGCAGGAGCTGTGGAGACTCTGCCCCAAGAGTCCAGTGCTGAGGAGTCAACACCTCCTTCCCTGCCCCCCAACCCTGCACACTGGTCTCACCTATTGTTCAAGAGAAGGGTCTTTCTTCCTTGGGGGTGCATGGGATTGAGGCATGGGCCACATTTCCTGTTACAAGCAGCTCCTGCCCACTGTTTACTGAGGCTGCCCGGGCACCTTCATCCCCAGCACGCTGACCCCGGGCCTGGGTGGGTGTACATGAGCACAGCTCCCAGCCACTGCGTCTGGCAGATGGACCCCCCACCCACCGGCACATTCCTAGCTCAGGACTGCAAGGACGAGTCAACCCATACACATCAAGAAAGAAGAGGTGGAGGCTGGGGTGGGAGAGTGAGGCAAGAAGCCACTTTACCACCACACAGCCTGGTGAGCTTCCTAGGCAGACACACTCACCTCCTGGCAGAGGGTTTGGGACAACAGTCCCTACCTTTTTGGCACCAGGGACTGGTTTTGTGGAAGATAATTTTTTCCATGGGTGGAGAAGGTTGTGGTGGGGCATGGTTTGGGGATGAAACTGTTCCACCTCAAATCATCAGGCATCAGATTCTCTTAAGGAGCACGCAACCTAGATCCCTCACATGCATGGTTCACAGTAGGATTCACGCCTCTGTGAGAATCTAATGGCACCGCTGATCTGACAGGAGCCAGAACTTGCAGTAATGCTTGCTCACCTGCCGCTCACCTCCTGTGTGCGGCCCGGTTACTAACAGGCCATGGATCGGTACTGGTCCACAGCCTGGGGGCTAAGGACCCCTGGTTTAGGTCATGGACTCTTGATAGCCCCGCCATGAATCCTATGGCCATGACTCCCCAGCTGTGTGCTCAGGAGAGCTTACCTACCCGCTATGTGCCTCAGTTTCCCCCTCTATAAAATGGGGATGAAGATACTTCTAGGATCTTCCTCATAGGGTAGCTGTGGGAAATAAAGAGGCTAGTGTGCTAGCTATGTAGTTTTGCCATTATTGATATTCACATTTCTAGTCTGGACTTGCAAACCCACAGACCCTGTGAACATTAGAGGACTCCGACCCTGGAGAAGTCCTCCAAGCATGCAGGCCCTTGGGCACAGGAGCATGTGCAGGGCGTGCACAGATGCCTAGGGAAGGGCAGCCAACTGGGTGTCTGCAGATGTGGGTGTGAACTCCTCGAGAACTGTATTCCTTGTCTGTAACTTGGGGAAAAGGAACTTGTTGAGTGAAAGAACAAACACAATTAATAAGACGTTTGGGGAGCATTTGACACGACCTTTCACGTGCACGAGCTTTGATCATCACAACAAGCACGTGTGGTA
|
CTGATCCTTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGAGACCAACATGGACAACAAAGCAAGACCCCATCTCTACAAAAAATAAAAAAACTTATCCCAGGCGTGGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCCATTGAGCCCACGAAGTTAAGGCTACAGTGAGCCATGATCACACCACTGTACTCCACGCTGGGTGACAGAGAGAGACCCAGTCTCTTTAAAAAAAATAAACAAAAATACCCAAAAGATAAAATGGGCCCAGGCATGGTGGCTCATGCCTATAATTCTAGCACTTTGGGAGGTTGAGGTGGGATGATCACTTTAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATAATCATCTTATTGCACTCCAGCCTGGGTGATAGAATGAGACCCTGTCTCTAAAAAGAAAACAAAAAAAATTTAAAAAATTTTTAAGAAGATAAAATAGGACAGTGTAACAAAAGGTGAGCTGGTTTGCTTCTGTTGTGTTGGGTTGGGTTGAGTTCTATTGGGTTGTGTTGAGTGGGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCTGTTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAAGGGGCTGCATTAGGTTTAGTATGTTGAGTTCCATTGTGTTGTGTTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGGGTTGAGTTCTATTCGGTTGCACTGAGTTGAGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCCATTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAATGGGTTGAGTTGGGTTGAGTGTGTTCAGTTCCATTGTGTTGTGCTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGCACTGAGTTGGGTTGAGTGTGTTGAGTTCCACTGTGTTGTGTTGTGTTGAGTTGAGTTCTATTGGGTTGTGTTCTGTTGGGTTGCAATGAGTTGGGTTGAGTGTTGGGTTCCACTGTATTGTACTGGGTTGGGTGTTTTGGTTGTTGGCTGGTAATAGGGGGGCTACTGCTTTAGCCACAGTGGTCAGGAAGACTTCTCAGAGGAGGTATGAGTTGGGACTTGAAAAATGGAGGGGGATGCAGCCATCTAGGCAGAAGGAAGAGCTAAACTGTTCTCTGTTTCTGCCCACTGGGATGCTGTGGACATTGTCTTCATGTTTGTCCTGTTTCCTGTCTAAGAGATAGGCCTTCTAGAGCAGGGACAAGTAACCCTTCTCTGTGTGAAAGAGCCAGGACTCTTACACTGTGTAAAGCCCAGAAACAGCCAGCAGCAGCCTTCCTGCCCCTCTGCTGGAGGCCCTCCTTCCTTTGCAACCCCCCACCACAGTGCAGAAGCCCAATATTAAAGAGGATAAAAGCAGAGTCGCTCTAGTTGGGACAGGGGCATGAGGGGCAGGCTAGGAGCCCCCACTTTCAGGTTCTCAATGAACTGAGGAAAGGAAAGCCATGGTGTGGTTGGTGGGCAGTCAGGAGACCCCAACTGCAGCCAAGAGCCCAGGGACAGGCTCTGCTTTACCAGCCTCACTCCCAGGTGGCCCTCACTGACCTGCACGCGGGCCTCAGTGAGGTCTGTCCTCATGGCCAGCTGTTCCCGCGCATACACGTCTGGGTAGTGGGTCTTCTGGAAGACCTTCTCCAGCTCCTCCAGCTGGTAGCTGGTGAAGGTGGTCTGGTTCCGCCGCTTCTTGCCCTTGTTGCTCTCTGAGTCGGCCTTCTCCAATGGGCTGGGGAGGTCTGAGCTGGCCCGGTCCTGGGGCCCCTTCACCCCAGCCTCCTTGACACTCAGGTAGCTGCTGTCCATCCCCACAGTGTCAGAGTCAGGGGGTAACTCTGGCTCACCCAGGGAGCTCTCTTTAGCTGAGGGAGGAGGAAACAAAGTCAGAAACCAATGGTTGAACCAAACAAGAGAAGGGGAATGTCAGGGGGAGAGTGGGGCACTCGGGTAGCCACCCCCTGCCTTTTTCCTCTTAGAGCTCATTGGATGCGAGGTCCGGAGACTTGGCTTCTAATTCTGGCTTGCCATTAACTTGCTGTGTGACCTTGGGCAAATCTCTTCCCCAATCTGAGCCTCTTCACCATCATCTTAGACTAGGTCCCTTCCAGCAACAATGTTATGTGAACCTAAGGCAGCCAATCTGACCTCTGTGACCTTTAATCCCCACCTCACTGACCCTGAGCTCCTCTCTCTAGAGGGATTCCCTGCATCAGGACTTTTCTGGGGCCCGAGAATTCTGACCCCAGTGCCATGGCCTCCCTGGGTGGAAGGGAAACTCATTCAGCAGCCATGTCTGGCCCAGTGGGGCTTGGGGTGAGGAGGACCCAGGATTGAGGCAGACAGGAGTGCCCCTCCTTTCCTGGCCTAGTCCCACCAGGAGTTCAGCAGGAGCTGTGGAGACTCTGCCCCAAGAGTCCAGTGCTGAGGAGTCAACACCTCCTTCCCTGCCCCCCAACCCTGCACACTGGTCTCACCTATTGTTCAAGAGAAGGGTCTTTCTTCCTTGGGGGTGCATGGGATTGAGGCATGGGCCACATTTCCTGTTACAAGCAGCTCCTGCCCACTGTTTACTGAGGCTGCCCGGGCACCTTCATCCCCAGCACGCTGACCCCGGGCCTGGGTGGGTGTACATGAGCACAGCTCCCAGCCACTGCGTCTGGCAGATGGACCCCCCACCCACCGGCACATTCCTAGCTCAGGACTGCAAGGACGAGTCAACCCATACACATCAAGAAAGAAGAGGTGGAGGCTGGGGTGGGAGAGTGAGGCAAGAAGCCACTTTACCACCACACAGCCTGGTGAGCTTCCTAGGCAGACACACTCACCTCCTGGCAGAGGGTTTGGGACAACAGTCCCTACCTTTTTGGCACCAGGGACTGGTTTTGTGGAAGATAATTTTTTCCATGGGTGGAGAAGGTTGTGGTGGGGCATGGTTTGGGGATGAAACTGTTCCACCTCAAATCATCAGGCATCAGATTCTCTTAAGGAGCACGCAACCTAGATCCCTCACATGCATGGTTCACAGTAGGATTCACGCCTCTGTGAGAATCTAATGGCACCGCTGATCTGACAGGAGCCAGAACTTGCAGTAATGCTTGCTCACCTGCCGCTCACCTCCTGTGTGCGGCCCGGTTACTAACAGGCCATGGATCGGTACTGGTCCACAGCCTGGGGGCTAAGGACCCCTGGTTTAGGTCATGGACTCTTGATAGCCCCGCCATGAATCCTATGGCCATGACTCCCCAGCTGTGTGCTCAGGAGAGCTTACCTACCCGCTATGTGCCTCAGTTTCCCCCTCTATAAAATGGGGATGAAGATACTTCTAGGATCTTCCTCATAGGGTAGCTGTGGGAAATAAAGAGGCTAGTGTGCTAGCTATGTAGTTTTGCCATTATTGATATTCACATTTCTAGTCTGGACTTGCAAACCCACAGACCCTGTGAACATTAGAGGACTCCGACCCTGGAGAAGTCCTCCAAGCATGCAGGCCCTTGGGCACAGGAGCATGTGCAGGGCGTGCACAGATGCCTAGGGAAGGGCAGCCAACTGGGTGTCTGCAGATGTGGGTGTGAACTCCTCGAGAACTGTATTCCTTGTCTGTAACTTGGGGAAAAGGAACTTGTTGAGTGAAAGAACAAACACAATTAATAAGACGTTTGGGGAGCATTTGACACGACCTTTCACGTGCACGAGCTTTGATCATCACAACAAGCACGTGTGGTA
|
Task1_train_15744
|
This mutation is located in gene ALX4 (ALX homeobox 4) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Parietal foramina 2
|
TTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGAGACCAACATGGACAACAAAGCAAGACCCCATCTCTACAAAAAATAAAAAAACTTATCCCAGGCGTGGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCCATTGAGCCCACGAAGTTAAGGCTACAGTGAGCCATGATCACACCACTGTACTCCACGCTGGGTGACAGAGAGAGACCCAGTCTCTTTAAAAAAAATAAACAAAAATACCCAAAAGATAAAATGGGCCCAGGCATGGTGGCTCATGCCTATAATTCTAGCACTTTGGGAGGTTGAGGTGGGATGATCACTTTAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATAATCATCTTATTGCACTCCAGCCTGGGTGATAGAATGAGACCCTGTCTCTAAAAAGAAAACAAAAAAAATTTAAAAAATTTTTAAGAAGATAAAATAGGACAGTGTAACAAAAGGTGAGCTGGTTTGCTTCTGTTGTGTTGGGTTGGGTTGAGTTCTATTGGGTTGTGTTGAGTGGGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCTGTTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAAGGGGCTGCATTAGGTTTAGTATGTTGAGTTCCATTGTGTTGTGTTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGGGTTGAGTTCTATTCGGTTGCACTGAGTTGAGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCCATTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAATGGGTTGAGTTGGGTTGAGTGTGTTCAGTTCCATTGTGTTGTGCTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGCACTGAGTTGGGTTGAGTGTGTTGAGTTCCACTGTGTTGTGTTGTGTTGAGTTGAGTTCTATTGGGTTGTGTTCTGTTGGGTTGCAATGAGTTGGGTTGAGTGTTGGGTTCCACTGTATTGTACTGGGTTGGGTGTTTTGGTTGTTGGCTGGTAATAGGGGGGCTACTGCTTTAGCCACAGTGGTCAGGAAGACTTCTCAGAGGAGGTATGAGTTGGGACTTGAAAAATGGAGGGGGATGCAGCCATCTAGGCAGAAGGAAGAGCTAAACTGTTCTCTGTTTCTGCCCACTGGGATGCTGTGGACATTGTCTTCATGTTTGTCCTGTTTCCTGTCTAAGAGATAGGCCTTCTAGAGCAGGGACAAGTAACCCTTCTCTGTGTGAAAGAGCCAGGACTCTTACACTGTGTAAAGCCCAGAAACAGCCAGCAGCAGCCTTCCTGCCCCTCTGCTGGAGGCCCTCCTTCCTTTGCAACCCCCCACCACAGTGCAGAAGCCCAATATTAAAGAGGATAAAAGCAGAGTCGCTCTAGTTGGGACAGGGGCATGAGGGGCAGGCTAGGAGCCCCCACTTTCAGGTTCTCAATGAACTGAGGAAAGGAAAGCCATGGTGTGGTTGGTGGGCAGTCAGGAGACCCCAACTGCAGCCAAGAGCCCAGGGACAGGCTCTGCTTTACCAGCCTCACTCCCAGGTGGCCCTCACTGACCTGCACGCGGGCCTCAGTGAGGTCTGTCCTCATGGCCAGCTGTTCCCGCGCATACACGTCTGGGTAGTGGGTCTTCTGGAAGACCTTCTCCAGCTCCTCCAGCTGGTAGCTGGTGAAGGTGGTCCGGTTCCGCCGCTTCTTGCCCTTGTTGCTCTCTGAGTCGGCCTTCTCCAATGGGCTGGGGAGGTCTGAGCTGGCCCGGTCCTGGGGCCCCTTCACCCCAGCCTCCTTGACACTCAGGTAGCTGCTGTCCATCCCCACAGTGTCAGAGTCAGGGGGTAACTCTGGCTCACCCAGGGAGCTCTCTTTAGCTGAGGGAGGAGGAAACAAAGTCAGAAACCAATGGTTGAACCAAACAAGAGAAGGGGAATGTCAGGGGGAGAGTGGGGCACTCGGGTAGCCACCCCCTGCCTTTTTCCTCTTAGAGCTCATTGGATGCGAGGTCCGGAGACTTGGCTTCTAATTCTGGCTTGCCATTAACTTGCTGTGTGACCTTGGGCAAATCTCTTCCCCAATCTGAGCCTCTTCACCATCATCTTAGACTAGGTCCCTTCCAGCAACAATGTTATGTGAACCTAAGGCAGCCAATCTGACCTCTGTGACCTTTAATCCCCACCTCACTGACCCTGAGCTCCTCTCTCTAGAGGGATTCCCTGCATCAGGACTTTTCTGGGGCCCGAGAATTCTGACCCCAGTGCCATGGCCTCCCTGGGTGGAAGGGAAACTCATTCAGCAGCCATGTCTGGCCCAGTGGGGCTTGGGGTGAGGAGGACCCAGGATTGAGGCAGACAGGAGTGCCCCTCCTTTCCTGGCCTAGTCCCACCAGGAGTTCAGCAGGAGCTGTGGAGACTCTGCCCCAAGAGTCCAGTGCTGAGGAGTCAACACCTCCTTCCCTGCCCCCCAACCCTGCACACTGGTCTCACCTATTGTTCAAGAGAAGGGTCTTTCTTCCTTGGGGGTGCATGGGATTGAGGCATGGGCCACATTTCCTGTTACAAGCAGCTCCTGCCCACTGTTTACTGAGGCTGCCCGGGCACCTTCATCCCCAGCACGCTGACCCCGGGCCTGGGTGGGTGTACATGAGCACAGCTCCCAGCCACTGCGTCTGGCAGATGGACCCCCCACCCACCGGCACATTCCTAGCTCAGGACTGCAAGGACGAGTCAACCCATACACATCAAGAAAGAAGAGGTGGAGGCTGGGGTGGGAGAGTGAGGCAAGAAGCCACTTTACCACCACACAGCCTGGTGAGCTTCCTAGGCAGACACACTCACCTCCTGGCAGAGGGTTTGGGACAACAGTCCCTACCTTTTTGGCACCAGGGACTGGTTTTGTGGAAGATAATTTTTTCCATGGGTGGAGAAGGTTGTGGTGGGGCATGGTTTGGGGATGAAACTGTTCCACCTCAAATCATCAGGCATCAGATTCTCTTAAGGAGCACGCAACCTAGATCCCTCACATGCATGGTTCACAGTAGGATTCACGCCTCTGTGAGAATCTAATGGCACCGCTGATCTGACAGGAGCCAGAACTTGCAGTAATGCTTGCTCACCTGCCGCTCACCTCCTGTGTGCGGCCCGGTTACTAACAGGCCATGGATCGGTACTGGTCCACAGCCTGGGGGCTAAGGACCCCTGGTTTAGGTCATGGACTCTTGATAGCCCCGCCATGAATCCTATGGCCATGACTCCCCAGCTGTGTGCTCAGGAGAGCTTACCTACCCGCTATGTGCCTCAGTTTCCCCCTCTATAAAATGGGGATGAAGATACTTCTAGGATCTTCCTCATAGGGTAGCTGTGGGAAATAAAGAGGCTAGTGTGCTAGCTATGTAGTTTTGCCATTATTGATATTCACATTTCTAGTCTGGACTTGCAAACCCACAGACCCTGTGAACATTAGAGGACTCCGACCCTGGAGAAGTCCTCCAAGCATGCAGGCCCTTGGGCACAGGAGCATGTGCAGGGCGTGCACAGATGCCTAGGGAAGGGCAGCCAACTGGGTGTCTGCAGATGTGGGTGTGAACTCCTCGAGAACTGTATTCCTTGTCTGTAACTTGGGGAAAAGGAACTTGTTGAGTGAAAGAACAAACACAATTAATAAGACGTTTGGGGAGCATTTGACACGACCTTTCACGTGCACGAGCTTTGATCATCACAACAAGCACGTGTGGTAGGTGTGA
|
TTTCTTTGCTGTGAATTCATGCTGGTCGGGGCAGATACAGCTCTCTGGACAAGGGTTGATTGATCCACGGATACTTATTTTTTAGACTTGATGCTCTGCGTTTGGCTTTCTCTAATTGGTGGGAATACAGTGATGAACAATCAGTGCTTGATCTCAAGGAAATCACAGTTTAGTAGGAGGGGACAAACAAGTAAAATAACGTAAGCCAGTCAACAATCCTGTAAAGAAGACAAAATAGGAGTTGGGCACAGTGTCTCATGCCTATAATCCCAGCAGTATGGGAGGCTGAGGTGAGGGATTACTTGAGGCCAGGAGTTTGAGACCAACATGGACAACAAAGCAAGACCCCATCTCTACAAAAAATAAAAAAACTTATCCCAGGCGTGGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAAACTGAGGCGGGAGGATCCATTGAGCCCACGAAGTTAAGGCTACAGTGAGCCATGATCACACCACTGTACTCCACGCTGGGTGACAGAGAGAGACCCAGTCTCTTTAAAAAAAATAAACAAAAATACCCAAAAGATAAAATGGGCCCAGGCATGGTGGCTCATGCCTATAATTCTAGCACTTTGGGAGGTTGAGGTGGGATGATCACTTTAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATAATCATCTTATTGCACTCCAGCCTGGGTGATAGAATGAGACCCTGTCTCTAAAAAGAAAACAAAAAAAATTTAAAAAATTTTTAAGAAGATAAAATAGGACAGTGTAACAAAAGGTGAGCTGGTTTGCTTCTGTTGTGTTGGGTTGGGTTGAGTTCTATTGGGTTGTGTTGAGTGGGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCTGTTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAAGGGGCTGCATTAGGTTTAGTATGTTGAGTTCCATTGTGTTGTGTTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGGGTTGAGTTCTATTCGGTTGCACTGAGTTGAGTTGAGTGTGTCAGGTTCCATTGTGTTGTGTTGTGTTAGGTTGAGTTCCATTGGAATGTGTTATATTGGGTTGTGTTGTGTTGGAATGGGTTGAGTTGGGTTGAGTGTGTTCAGTTCCATTGTGTTGTGCTGGGTTGAGTTGAGTTCTATTGGGTTGTGTTGTGTTGGGTTGCACTGAGTTGGGTTGAGTGTGTTGAGTTCCACTGTGTTGTGTTGTGTTGAGTTGAGTTCTATTGGGTTGTGTTCTGTTGGGTTGCAATGAGTTGGGTTGAGTGTTGGGTTCCACTGTATTGTACTGGGTTGGGTGTTTTGGTTGTTGGCTGGTAATAGGGGGGCTACTGCTTTAGCCACAGTGGTCAGGAAGACTTCTCAGAGGAGGTATGAGTTGGGACTTGAAAAATGGAGGGGGATGCAGCCATCTAGGCAGAAGGAAGAGCTAAACTGTTCTCTGTTTCTGCCCACTGGGATGCTGTGGACATTGTCTTCATGTTTGTCCTGTTTCCTGTCTAAGAGATAGGCCTTCTAGAGCAGGGACAAGTAACCCTTCTCTGTGTGAAAGAGCCAGGACTCTTACACTGTGTAAAGCCCAGAAACAGCCAGCAGCAGCCTTCCTGCCCCTCTGCTGGAGGCCCTCCTTCCTTTGCAACCCCCCACCACAGTGCAGAAGCCCAATATTAAAGAGGATAAAAGCAGAGTCGCTCTAGTTGGGACAGGGGCATGAGGGGCAGGCTAGGAGCCCCCACTTTCAGGTTCTCAATGAACTGAGGAAAGGAAAGCCATGGTGTGGTTGGTGGGCAGTCAGGAGACCCCAACTGCAGCCAAGAGCCCAGGGACAGGCTCTGCTTTACCAGCCTCACTCCCAGGTGGCCCTCACTGACCTGCACGCGGGCCTCAGTGAGGTCTGTCCTCATGGCCAGCTGTTCCCGCGCATACACGTCTGGGTAGTGGGTCTTCTGGAAGACCTTCTCCAGCTCCTCCAGCTGGTAGCTGGTGAAGGTGGTCCGGTTCCCCCGCTTCTTGCCCTTGTTGCTCTCTGAGTCGGCCTTCTCCAATGGGCTGGGGAGGTCTGAGCTGGCCCGGTCCTGGGGCCCCTTCACCCCAGCCTCCTTGACACTCAGGTAGCTGCTGTCCATCCCCACAGTGTCAGAGTCAGGGGGTAACTCTGGCTCACCCAGGGAGCTCTCTTTAGCTGAGGGAGGAGGAAACAAAGTCAGAAACCAATGGTTGAACCAAACAAGAGAAGGGGAATGTCAGGGGGAGAGTGGGGCACTCGGGTAGCCACCCCCTGCCTTTTTCCTCTTAGAGCTCATTGGATGCGAGGTCCGGAGACTTGGCTTCTAATTCTGGCTTGCCATTAACTTGCTGTGTGACCTTGGGCAAATCTCTTCCCCAATCTGAGCCTCTTCACCATCATCTTAGACTAGGTCCCTTCCAGCAACAATGTTATGTGAACCTAAGGCAGCCAATCTGACCTCTGTGACCTTTAATCCCCACCTCACTGACCCTGAGCTCCTCTCTCTAGAGGGATTCCCTGCATCAGGACTTTTCTGGGGCCCGAGAATTCTGACCCCAGTGCCATGGCCTCCCTGGGTGGAAGGGAAACTCATTCAGCAGCCATGTCTGGCCCAGTGGGGCTTGGGGTGAGGAGGACCCAGGATTGAGGCAGACAGGAGTGCCCCTCCTTTCCTGGCCTAGTCCCACCAGGAGTTCAGCAGGAGCTGTGGAGACTCTGCCCCAAGAGTCCAGTGCTGAGGAGTCAACACCTCCTTCCCTGCCCCCCAACCCTGCACACTGGTCTCACCTATTGTTCAAGAGAAGGGTCTTTCTTCCTTGGGGGTGCATGGGATTGAGGCATGGGCCACATTTCCTGTTACAAGCAGCTCCTGCCCACTGTTTACTGAGGCTGCCCGGGCACCTTCATCCCCAGCACGCTGACCCCGGGCCTGGGTGGGTGTACATGAGCACAGCTCCCAGCCACTGCGTCTGGCAGATGGACCCCCCACCCACCGGCACATTCCTAGCTCAGGACTGCAAGGACGAGTCAACCCATACACATCAAGAAAGAAGAGGTGGAGGCTGGGGTGGGAGAGTGAGGCAAGAAGCCACTTTACCACCACACAGCCTGGTGAGCTTCCTAGGCAGACACACTCACCTCCTGGCAGAGGGTTTGGGACAACAGTCCCTACCTTTTTGGCACCAGGGACTGGTTTTGTGGAAGATAATTTTTTCCATGGGTGGAGAAGGTTGTGGTGGGGCATGGTTTGGGGATGAAACTGTTCCACCTCAAATCATCAGGCATCAGATTCTCTTAAGGAGCACGCAACCTAGATCCCTCACATGCATGGTTCACAGTAGGATTCACGCCTCTGTGAGAATCTAATGGCACCGCTGATCTGACAGGAGCCAGAACTTGCAGTAATGCTTGCTCACCTGCCGCTCACCTCCTGTGTGCGGCCCGGTTACTAACAGGCCATGGATCGGTACTGGTCCACAGCCTGGGGGCTAAGGACCCCTGGTTTAGGTCATGGACTCTTGATAGCCCCGCCATGAATCCTATGGCCATGACTCCCCAGCTGTGTGCTCAGGAGAGCTTACCTACCCGCTATGTGCCTCAGTTTCCCCCTCTATAAAATGGGGATGAAGATACTTCTAGGATCTTCCTCATAGGGTAGCTGTGGGAAATAAAGAGGCTAGTGTGCTAGCTATGTAGTTTTGCCATTATTGATATTCACATTTCTAGTCTGGACTTGCAAACCCACAGACCCTGTGAACATTAGAGGACTCCGACCCTGGAGAAGTCCTCCAAGCATGCAGGCCCTTGGGCACAGGAGCATGTGCAGGGCGTGCACAGATGCCTAGGGAAGGGCAGCCAACTGGGTGTCTGCAGATGTGGGTGTGAACTCCTCGAGAACTGTATTCCTTGTCTGTAACTTGGGGAAAAGGAACTTGTTGAGTGAAAGAACAAACACAATTAATAAGACGTTTGGGGAGCATTTGACACGACCTTTCACGTGCACGAGCTTTGATCATCACAACAAGCACGTGTGGTAGGTGTGA
|
Task1_train_15745
|
Chromosome 11 houses a mutation in gene SLC35C1 (solute carrier family 35 member C1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Leukocyte adhesion deficiency type II
|
CCACCTCCATAACAACTTTCATTCATTCATTCCACGACTAGTAATTGGTGGCTAAACACATGCCAGGCACCATGCCAGGCTTTGGGGATACAAGTTTGGAAAAGGTAACCTCAGCTCCTACACTCCTGGAGGGCATGGTGGTGACAGTTACGCTAGCATAGTAAGGGCTGTGATGGGGCATGCATAAAAGGGGCTGTGGGAGCTCTGGGCAAGGGAGGGGACCCGGGGACAGGGCAGTCTAAGCAGGCCTTCTGGAGGAAGTTTAGAAACTGGGTTTAGAGGAAGAAGTAGGGACAGAACATTCTAGATAGAAGGAAGAGCACGTGCACTTCTTCATGGCTGGGCCACAGCAAGACTCACCAGACACAAGGCTGCCCAGTCAGGCCGACTCCACGTGGTGCAGGTCCTAAGAGCTGTGGTGAGTGAGTGGAATTTCTCCTGAAGGCAGTGGAGAGCCACAGAGAGGCTTCACACCAGGGCACAGCCTGGACCGATCTGGACTTCAGGATGATCATATCAGTTGCAAGGTGGAGAGTAGATTGGCTGGAGTGGAGGACAGGGAGGTGACCCAGAGAGCTCAGAGTGGTTAAGTAACTTCTCCCAGGCCACTCAGCTTCTAAATTGCAGAGCCTGATTGGAGGCTAAATCCCTCTGACCCCAAAACTTTCCCCACTGCCCCGTGTTGCCAGATGCTGTGGCAGGAAGTATAACATGCATTGTTCAGCCCCTGGCTTCTGGGAGCATGGGATCTGGCTAAAAAGACCAGACTGTCACCATGGGCAGGGGCCCAGCAGCCCAGAGCAGGCAAGGGGCTTTGCAGGAAAGCGAGGCAGTAAGAGTCCAGGTTCTGGGATTATCAGGAAAGGATTCCCCAGGAGAAGCCAACTTTGACCTTGACAGATGAGTAGAATCCCCCAGAAAGGAGGAGGGTGTTTCTGGCACAGGACATGAACAAGGACACTGAGGCCCAGGGTGAGAAGCAGGGAGACGAGCAGGGAAGCTGGGGCGACCATAGGACAGAGGAAGGGCCTGCACCCCCGCCTGCCACGCCAAGGAGTGTAGTCCTCATGGCAGAAGTGGGGAGCCACGGAAGCTCTTTGAGCAGGAAGTGACACAAGATGAGAGTCTCAGAGTCACTGCCCCAAATGACACAAGAGATTCTAACTTAATGTGCCCCATGATGACATCATAGGCTCCCATTCCATGCAAGAAGCAGCCAAGGCTTAGACACTGGAAGTCATTTACGCAGGGTCACCTTAAATCACATTAACCACTAAGTGGCACTCATTCTTCAGAACTCAGTTCAACTGTTATTTTCAGATGCCCCAGGCCAGCACAGTCGCCCACTTACAGGCTCTCACAGCACCTTGTACTACTTTATGGACCTCATTACAATTCTTACAATTGTAATTAAAGAAGTAACTGGGAAGATTTGTTTTAATGTCTTTCTCCTCTGCTAGCAGATAAGCTGCCAGAGGAGGTTTTCTTGCCCTGGGCGGCTCCCATAGTTCATGTGGAGTGCTTTGCCTGCAGTGGAGACTCTGGCTGTGCTTATTGGAGGGAGGCCTGGGGAGGAACGGGGAGGGCCGCAATACTCAGTCTGTGAAATTTGGTGTCTGATCCTCTGTCCTTCTTCCTCCTCGTCCTCATCCCTCTTCCTCACCCTTCCCCACTCCTCCTCTCCCCACTGCAGGGGGCTTCTGGCTTGGTGTGGACCAGGAGGGGGCAGAAGGCACCCTGTCGTGGCTGGGCACCGTCTTCGGCGTGCTGGCTAGCCTCTGTGTCTCGCTCAACGCCATCTACACCACGAAGGTGCTCCCGGCGGTGGACGGCAGCATCTGGCGCCTGACTTTCTACAACAACGTCAACGCCTGCATCCTCTTCCTGCCCCTGCTCCTGCTGCTCGGGGAGCTTCAGGCCCTGCGTGACTTTGCCCAGCTGGGCAGTGCCCACTTCTGGGGGATGATGACGCTGGGCGGCCTGTTTGGCTTTGCCATCGGCTACGTGACAGGACTGCAGATCAAGTTCACCAGTCCGCTGACCCACAATGTGTCGGGCACGGCCAAGGCCTGTGCCCAGACAGTGCTGGCCGTGCTCTACTACGAGGAGACCAAGAGCTTCCTCTGGTGGACGAGCAACATGATGGTGCTGGGCGGCTCCTCCGCCTACACCTGGGTCAGGGGCTGGGAGATGAAGAAGACTCCGGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGGGGGTGTGAGCACCACAGGCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCGGGGCCAGCACAGTAGTGAAGGCGGTCTCCTGGACCCCAGAAGCGTGCTGTGGTGTGGACTGGGTGCTACTTATAGACCCAATCAGAATACGGTGGTTGAGAAGGAACCAGTGTTTACAAGTAATATCAGAAAGTTGAAGGAACCAGTGTTTACAAGTAATACCAGAAAGTTGCCAAACCCTTCTCTATCCTCTCGTATTTCTGAGTTTTTGTCCTTCCCGAGGGAGCACCCTAGTGAGAGTTGAACCCCTTCCTTCTGCCTCCAGGGCCTGTCTGCCTCCACATCACTCTGAGGACAGGGACAGGCAACAACCTTGAAGGGACAGCAATGGCAAAGCCACAAAGGCTTCACTGTACTCAGGGGAGATGGCCCTACCACAGCCACCTGGAGAGGGTTGGGAAGCCTTCCGTCTGCGGTGGGCAGGCAGCCTCACCCTGGGCCCACAGACCGGCCTTCCTTTGGAGGAAAGTGTGGCCTGGACTGAGGGAGGAAATGAGCGAGTTCCCTCTGACACCAGCAGATCCCCAGGGGCTGCTGGGCAGTGGCCTGGGAATGGGGTGGATTGTGAGAAAGTGCTCACCATCTATACACCCTGTATGTCCAGCTTTTGAACACAAGGGAACCATGCTTCTCTTAGAGGTTAAGCAGGGTCATTAACATCCTCCCCCAGTCCCTAACATCACATTGTCCTGCGTGGCTCCTCTGGCCCTGAGTGGCACCTGTCCCTCTGGTCTCCCAGCACCTGGCCCAGGTAACAGCCTTCTGAAAGCAGAGCCAAGGAGCTGCTTCTCTCTTCTCCCAGTTCTACCTCCCCAGAAGCCTTCCTCCCCAGGTGGGGCTGATGGAGCAAGGGTCCAGACTAGGAGCCTTCCACCCCAGCTGTGTCTGGCGCCCCTAGATCTCTGCAAGGGAGGTGTTACAGCTGGTTCTGAGCCGCTTGCCTTGTGATGGTAAGACACCAACCTTTACATTCTTCCCTGAGGTTGTGGCTGACAGAGCCTGCTTGGCCCCACTGTTAGTCCAGCGAGCTCCTATATCAAAATGCCGTAGGCCGGGTGGCTTACAAACAACAGAAACGTATTGCTCACAGTCCTGGGGGGCTGGGACGCCCAAGATCAAGAGGCCAGCAGATTCGGACTCCGCTGAGGGCTGTTTCCCGATCCATAGATGGTGCCTTCTCGCTGTATCCTCAATGGTAGAAGCACAAACAAGCAAGCTCCTTCCTGCCTCTTTTATAAGGACTCCAACCCTGTTCATGAGGGTTCCGCCCCCATGACCCAATCAGCTCCAAAGGCCCCACCTCCTAATACTGTCACCTTGGGGGTGAGAATTCCAATGTGAATTTGCAGGGGGAGTGGGGGACACACACAAATTTCGGGGCCATACCACCCTTCACCACACCCTCCTGCGCTCAGGGTGGCTTGCAGTCCCTGGCCCTTCTGGTGGGCATTTGGTATGTCCTTTCTCTTGGGGTGATTTCTGATGTTTTTACTCTATATAGTGAAAAGCTAGGGAGAGCGGGTCTTCTCCCCCCTCCCTCTCCAGTCCCCTCACAATCCCAGATGGGTTCTAATGCAGCTGCTGGGGCCTGATGCCCTGAGTTGTTTGTGATTCAATAAAGAATCCATAAGATCCTGTGTGTGTGGCCTGAGGGAAGAGGCAGCAGGGCTGGAGAGGATTTGTGAACAGGGCCTGGGGGTGGAGGGGAGGTTGGGACCTGTCAGAGGCAGCAGGGCTGAAGAAGGTTTGTGAACAGGGCCCTGGGGTGGAGGGGAGCTGGGGATCTGTCAGGAA
|
CCACCTCCATAACAACTTTCATTCATTCATTCCACGACTAGTAATTGGTGGCTAAACACATGCCAGGCACCATGCCAGGCTTTGGGGATACAAGTTTGGAAAAGGTAACCTCAGCTCCTACACTCCTGGAGGGCATGGTGGTGACAGTTACGCTAGCATAGTAAGGGCTGTGATGGGGCATGCATAAAAGGGGCTGTGGGAGCTCTGGGCAAGGGAGGGGACCCGGGGACAGGGCAGTCTAAGCAGGCCTTCTGGAGGAAGTTTAGAAACTGGGTTTAGAGGAAGAAGTAGGGACAGAACATTCTAGATAGAAGGAAGAGCACGTGCACTTCTTCATGGCTGGGCCACAGCAAGACTCACCAGACACAAGGCTGCCCAGTCAGGCCGACTCCACGTGGTGCAGGTCCTAAGAGCTGTGGTGAGTGAGTGGAATTTCTCCTGAAGGCAGTGGAGAGCCACAGAGAGGCTTCACACCAGGGCACAGCCTGGACCGATCTGGACTTCAGGATGATCATATCAGTTGCAAGGTGGAGAGTAGATTGGCTGGAGTGGAGGACAGGGAGGTGACCCAGAGAGCTCAGAGTGGTTAAGTAACTTCTCCCAGGCCACTCAGCTTCTAAATTGCAGAGCCTGATTGGAGGCTAAATCCCTCTGACCCCAAAACTTTCCCCACTGCCCCGTGTTGCCAGATGCTGTGGCAGGAAGTATAACATGCATTGTTCAGCCCCTGGCTTCTGGGAGCATGGGATCTGGCTAAAAAGACCAGACTGTCACCATGGGCAGGGGCCCAGCAGCCCAGAGCAGGCAAGGGGCTTTGCAGGAAAGCGAGGCAGTAAGAGTCCAGGTTCTGGGATTATCAGGAAAGGATTCCCCAGGAGAAGCCAACTTTGACCTTGACAGATGAGTAGAATCCCCCAGAAAGGAGGAGGGTGTTTCTGGCACAGGACATGAACAAGGACACTGAGGCCCAGGGTGAGAAGCAGGGAGACGAGCAGGGAAGCTGGGGCGACCATAGGACAGAGGAAGGGCCTGCACCCCCGCCTGCCACGCCAAGGAGTGTAGTCCTCATGGCAGAAGTGGGGAGCCACGGAAGCTCTTTGAGCAGGAAGTGACACAAGATGAGAGTCTCAGAGTCACTGCCCCAAATGACACAAGAGATTCTAACTTAATGTGCCCCATGATGACATCATAGGCTCCCATTCCATGCAAGAAGCAGCCAAGGCTTAGACACTGGAAGTCATTTACGCAGGGTCACCTTAAATCACATTAACCACTAAGTGGCACTCATTCTTCAGAACTCAGTTCAACTGTTATTTTCAGATGCCCCAGGCCAGCACAGTCGCCCACTTACAGGCTCTCACAGCACCTTGTACTACTTTATGGACCTCATTACAATTCTTACAATTGTAATTAAAGAAGTAACTGGGAAGATTTGTTTTAATGTCTTTCTCCTCTGCTAGCAGATAAGCTGCCAGAGGAGGTTTTCTTGCCCTGGGCGGCTCCCATAGTTCATGTGGAGTGCTTTGCCTGCAGTGGAGACTCTGGCTGTGCTTATTGGAGGGAGGCCTGGGGAGGAACGGGGAGGGCCGCAATACTCAGTCTGTGAAATTTGGTGTCTGATCCTCTGTCCTTCTTCCTCCTCGTCCTCATCCCTCTTCCTCACCCTTCCCCACTCCTCCTCTCCCCACTGCAGGGGGCTTCTGGCTTGGTGTGGACCAGGAGGGGGCAGAAGGCACCCTGTCGTGGCTGGGCACCGTCTTCGGCGTGCTGGCTAGCCTCTGTGTCTCGCTCAACGCCATCTACACCACGAAGGTGCTCCCGGCGGTGGACGGCAGCATCTGGCGCCTGACTTTCTACAACAACGTCAACGCCTGCATCCTCTTCCTGCCCCTGCTCCTGCTGCTCGGGGAGCTTCAGGCCCTGCGTGACTTTGCCCAGCTGGGCAGTGCCCACTTCTGGGGGATGATGACGCTGGGCGGCCTGTTTGGCTTTGCCATCGGCTACGTGACAGGACTGCAGATCAAGTTCACCAGTCCGCTGACCCACAAAGTGTCGGGCACGGCCAAGGCCTGTGCCCAGACAGTGCTGGCCGTGCTCTACTACGAGGAGACCAAGAGCTTCCTCTGGTGGACGAGCAACATGATGGTGCTGGGCGGCTCCTCCGCCTACACCTGGGTCAGGGGCTGGGAGATGAAGAAGACTCCGGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGGGGGTGTGAGCACCACAGGCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCGGGGCCAGCACAGTAGTGAAGGCGGTCTCCTGGACCCCAGAAGCGTGCTGTGGTGTGGACTGGGTGCTACTTATAGACCCAATCAGAATACGGTGGTTGAGAAGGAACCAGTGTTTACAAGTAATATCAGAAAGTTGAAGGAACCAGTGTTTACAAGTAATACCAGAAAGTTGCCAAACCCTTCTCTATCCTCTCGTATTTCTGAGTTTTTGTCCTTCCCGAGGGAGCACCCTAGTGAGAGTTGAACCCCTTCCTTCTGCCTCCAGGGCCTGTCTGCCTCCACATCACTCTGAGGACAGGGACAGGCAACAACCTTGAAGGGACAGCAATGGCAAAGCCACAAAGGCTTCACTGTACTCAGGGGAGATGGCCCTACCACAGCCACCTGGAGAGGGTTGGGAAGCCTTCCGTCTGCGGTGGGCAGGCAGCCTCACCCTGGGCCCACAGACCGGCCTTCCTTTGGAGGAAAGTGTGGCCTGGACTGAGGGAGGAAATGAGCGAGTTCCCTCTGACACCAGCAGATCCCCAGGGGCTGCTGGGCAGTGGCCTGGGAATGGGGTGGATTGTGAGAAAGTGCTCACCATCTATACACCCTGTATGTCCAGCTTTTGAACACAAGGGAACCATGCTTCTCTTAGAGGTTAAGCAGGGTCATTAACATCCTCCCCCAGTCCCTAACATCACATTGTCCTGCGTGGCTCCTCTGGCCCTGAGTGGCACCTGTCCCTCTGGTCTCCCAGCACCTGGCCCAGGTAACAGCCTTCTGAAAGCAGAGCCAAGGAGCTGCTTCTCTCTTCTCCCAGTTCTACCTCCCCAGAAGCCTTCCTCCCCAGGTGGGGCTGATGGAGCAAGGGTCCAGACTAGGAGCCTTCCACCCCAGCTGTGTCTGGCGCCCCTAGATCTCTGCAAGGGAGGTGTTACAGCTGGTTCTGAGCCGCTTGCCTTGTGATGGTAAGACACCAACCTTTACATTCTTCCCTGAGGTTGTGGCTGACAGAGCCTGCTTGGCCCCACTGTTAGTCCAGCGAGCTCCTATATCAAAATGCCGTAGGCCGGGTGGCTTACAAACAACAGAAACGTATTGCTCACAGTCCTGGGGGGCTGGGACGCCCAAGATCAAGAGGCCAGCAGATTCGGACTCCGCTGAGGGCTGTTTCCCGATCCATAGATGGTGCCTTCTCGCTGTATCCTCAATGGTAGAAGCACAAACAAGCAAGCTCCTTCCTGCCTCTTTTATAAGGACTCCAACCCTGTTCATGAGGGTTCCGCCCCCATGACCCAATCAGCTCCAAAGGCCCCACCTCCTAATACTGTCACCTTGGGGGTGAGAATTCCAATGTGAATTTGCAGGGGGAGTGGGGGACACACACAAATTTCGGGGCCATACCACCCTTCACCACACCCTCCTGCGCTCAGGGTGGCTTGCAGTCCCTGGCCCTTCTGGTGGGCATTTGGTATGTCCTTTCTCTTGGGGTGATTTCTGATGTTTTTACTCTATATAGTGAAAAGCTAGGGAGAGCGGGTCTTCTCCCCCCTCCCTCTCCAGTCCCCTCACAATCCCAGATGGGTTCTAATGCAGCTGCTGGGGCCTGATGCCCTGAGTTGTTTGTGATTCAATAAAGAATCCATAAGATCCTGTGTGTGTGGCCTGAGGGAAGAGGCAGCAGGGCTGGAGAGGATTTGTGAACAGGGCCTGGGGGTGGAGGGGAGGTTGGGACCTGTCAGAGGCAGCAGGGCTGAAGAAGGTTTGTGAACAGGGCCCTGGGGTGGAGGGGAGCTGGGGATCTGTCAGGAA
|
Task1_train_15746
|
This genomic variant is located on Chromosome 11, within the SLC35C1 (solute carrier family 35 member C1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Leukocyte adhesion deficiency type II
|
CACGACTAGTAATTGGTGGCTAAACACATGCCAGGCACCATGCCAGGCTTTGGGGATACAAGTTTGGAAAAGGTAACCTCAGCTCCTACACTCCTGGAGGGCATGGTGGTGACAGTTACGCTAGCATAGTAAGGGCTGTGATGGGGCATGCATAAAAGGGGCTGTGGGAGCTCTGGGCAAGGGAGGGGACCCGGGGACAGGGCAGTCTAAGCAGGCCTTCTGGAGGAAGTTTAGAAACTGGGTTTAGAGGAAGAAGTAGGGACAGAACATTCTAGATAGAAGGAAGAGCACGTGCACTTCTTCATGGCTGGGCCACAGCAAGACTCACCAGACACAAGGCTGCCCAGTCAGGCCGACTCCACGTGGTGCAGGTCCTAAGAGCTGTGGTGAGTGAGTGGAATTTCTCCTGAAGGCAGTGGAGAGCCACAGAGAGGCTTCACACCAGGGCACAGCCTGGACCGATCTGGACTTCAGGATGATCATATCAGTTGCAAGGTGGAGAGTAGATTGGCTGGAGTGGAGGACAGGGAGGTGACCCAGAGAGCTCAGAGTGGTTAAGTAACTTCTCCCAGGCCACTCAGCTTCTAAATTGCAGAGCCTGATTGGAGGCTAAATCCCTCTGACCCCAAAACTTTCCCCACTGCCCCGTGTTGCCAGATGCTGTGGCAGGAAGTATAACATGCATTGTTCAGCCCCTGGCTTCTGGGAGCATGGGATCTGGCTAAAAAGACCAGACTGTCACCATGGGCAGGGGCCCAGCAGCCCAGAGCAGGCAAGGGGCTTTGCAGGAAAGCGAGGCAGTAAGAGTCCAGGTTCTGGGATTATCAGGAAAGGATTCCCCAGGAGAAGCCAACTTTGACCTTGACAGATGAGTAGAATCCCCCAGAAAGGAGGAGGGTGTTTCTGGCACAGGACATGAACAAGGACACTGAGGCCCAGGGTGAGAAGCAGGGAGACGAGCAGGGAAGCTGGGGCGACCATAGGACAGAGGAAGGGCCTGCACCCCCGCCTGCCACGCCAAGGAGTGTAGTCCTCATGGCAGAAGTGGGGAGCCACGGAAGCTCTTTGAGCAGGAAGTGACACAAGATGAGAGTCTCAGAGTCACTGCCCCAAATGACACAAGAGATTCTAACTTAATGTGCCCCATGATGACATCATAGGCTCCCATTCCATGCAAGAAGCAGCCAAGGCTTAGACACTGGAAGTCATTTACGCAGGGTCACCTTAAATCACATTAACCACTAAGTGGCACTCATTCTTCAGAACTCAGTTCAACTGTTATTTTCAGATGCCCCAGGCCAGCACAGTCGCCCACTTACAGGCTCTCACAGCACCTTGTACTACTTTATGGACCTCATTACAATTCTTACAATTGTAATTAAAGAAGTAACTGGGAAGATTTGTTTTAATGTCTTTCTCCTCTGCTAGCAGATAAGCTGCCAGAGGAGGTTTTCTTGCCCTGGGCGGCTCCCATAGTTCATGTGGAGTGCTTTGCCTGCAGTGGAGACTCTGGCTGTGCTTATTGGAGGGAGGCCTGGGGAGGAACGGGGAGGGCCGCAATACTCAGTCTGTGAAATTTGGTGTCTGATCCTCTGTCCTTCTTCCTCCTCGTCCTCATCCCTCTTCCTCACCCTTCCCCACTCCTCCTCTCCCCACTGCAGGGGGCTTCTGGCTTGGTGTGGACCAGGAGGGGGCAGAAGGCACCCTGTCGTGGCTGGGCACCGTCTTCGGCGTGCTGGCTAGCCTCTGTGTCTCGCTCAACGCCATCTACACCACGAAGGTGCTCCCGGCGGTGGACGGCAGCATCTGGCGCCTGACTTTCTACAACAACGTCAACGCCTGCATCCTCTTCCTGCCCCTGCTCCTGCTGCTCGGGGAGCTTCAGGCCCTGCGTGACTTTGCCCAGCTGGGCAGTGCCCACTTCTGGGGGATGATGACGCTGGGCGGCCTGTTTGGCTTTGCCATCGGCTACGTGACAGGACTGCAGATCAAGTTCACCAGTCCGCTGACCCACAATGTGTCGGGCACGGCCAAGGCCTGTGCCCAGACAGTGCTGGCCGTGCTCTACTACGAGGAGACCAAGAGCTTCCTCTGGTGGACGAGCAACATGATGGTGCTGGGCGGCTCCTCCGCCTACACCTGGGTCAGGGGCTGGGAGATGAAGAAGACTCCGGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGGGGGTGTGAGCACCACAGGCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCGGGGCCAGCACAGTAGTGAAGGCGGTCTCCTGGACCCCAGAAGCGTGCTGTGGTGTGGACTGGGTGCTACTTATAGACCCAATCAGAATACGGTGGTTGAGAAGGAACCAGTGTTTACAAGTAATATCAGAAAGTTGAAGGAACCAGTGTTTACAAGTAATACCAGAAAGTTGCCAAACCCTTCTCTATCCTCTCGTATTTCTGAGTTTTTGTCCTTCCCGAGGGAGCACCCTAGTGAGAGTTGAACCCCTTCCTTCTGCCTCCAGGGCCTGTCTGCCTCCACATCACTCTGAGGACAGGGACAGGCAACAACCTTGAAGGGACAGCAATGGCAAAGCCACAAAGGCTTCACTGTACTCAGGGGAGATGGCCCTACCACAGCCACCTGGAGAGGGTTGGGAAGCCTTCCGTCTGCGGTGGGCAGGCAGCCTCACCCTGGGCCCACAGACCGGCCTTCCTTTGGAGGAAAGTGTGGCCTGGACTGAGGGAGGAAATGAGCGAGTTCCCTCTGACACCAGCAGATCCCCAGGGGCTGCTGGGCAGTGGCCTGGGAATGGGGTGGATTGTGAGAAAGTGCTCACCATCTATACACCCTGTATGTCCAGCTTTTGAACACAAGGGAACCATGCTTCTCTTAGAGGTTAAGCAGGGTCATTAACATCCTCCCCCAGTCCCTAACATCACATTGTCCTGCGTGGCTCCTCTGGCCCTGAGTGGCACCTGTCCCTCTGGTCTCCCAGCACCTGGCCCAGGTAACAGCCTTCTGAAAGCAGAGCCAAGGAGCTGCTTCTCTCTTCTCCCAGTTCTACCTCCCCAGAAGCCTTCCTCCCCAGGTGGGGCTGATGGAGCAAGGGTCCAGACTAGGAGCCTTCCACCCCAGCTGTGTCTGGCGCCCCTAGATCTCTGCAAGGGAGGTGTTACAGCTGGTTCTGAGCCGCTTGCCTTGTGATGGTAAGACACCAACCTTTACATTCTTCCCTGAGGTTGTGGCTGACAGAGCCTGCTTGGCCCCACTGTTAGTCCAGCGAGCTCCTATATCAAAATGCCGTAGGCCGGGTGGCTTACAAACAACAGAAACGTATTGCTCACAGTCCTGGGGGGCTGGGACGCCCAAGATCAAGAGGCCAGCAGATTCGGACTCCGCTGAGGGCTGTTTCCCGATCCATAGATGGTGCCTTCTCGCTGTATCCTCAATGGTAGAAGCACAAACAAGCAAGCTCCTTCCTGCCTCTTTTATAAGGACTCCAACCCTGTTCATGAGGGTTCCGCCCCCATGACCCAATCAGCTCCAAAGGCCCCACCTCCTAATACTGTCACCTTGGGGGTGAGAATTCCAATGTGAATTTGCAGGGGGAGTGGGGGACACACACAAATTTCGGGGCCATACCACCCTTCACCACACCCTCCTGCGCTCAGGGTGGCTTGCAGTCCCTGGCCCTTCTGGTGGGCATTTGGTATGTCCTTTCTCTTGGGGTGATTTCTGATGTTTTTACTCTATATAGTGAAAAGCTAGGGAGAGCGGGTCTTCTCCCCCCTCCCTCTCCAGTCCCCTCACAATCCCAGATGGGTTCTAATGCAGCTGCTGGGGCCTGATGCCCTGAGTTGTTTGTGATTCAATAAAGAATCCATAAGATCCTGTGTGTGTGGCCTGAGGGAAGAGGCAGCAGGGCTGGAGAGGATTTGTGAACAGGGCCTGGGGGTGGAGGGGAGGTTGGGACCTGTCAGAGGCAGCAGGGCTGAAGAAGGTTTGTGAACAGGGCCCTGGGGTGGAGGGGAGCTGGGGATCTGTCAGGAAGGAGGGCTCATCCCTGCCTTCACCAAGCCCAC
|
CACGACTAGTAATTGGTGGCTAAACACATGCCAGGCACCATGCCAGGCTTTGGGGATACAAGTTTGGAAAAGGTAACCTCAGCTCCTACACTCCTGGAGGGCATGGTGGTGACAGTTACGCTAGCATAGTAAGGGCTGTGATGGGGCATGCATAAAAGGGGCTGTGGGAGCTCTGGGCAAGGGAGGGGACCCGGGGACAGGGCAGTCTAAGCAGGCCTTCTGGAGGAAGTTTAGAAACTGGGTTTAGAGGAAGAAGTAGGGACAGAACATTCTAGATAGAAGGAAGAGCACGTGCACTTCTTCATGGCTGGGCCACAGCAAGACTCACCAGACACAAGGCTGCCCAGTCAGGCCGACTCCACGTGGTGCAGGTCCTAAGAGCTGTGGTGAGTGAGTGGAATTTCTCCTGAAGGCAGTGGAGAGCCACAGAGAGGCTTCACACCAGGGCACAGCCTGGACCGATCTGGACTTCAGGATGATCATATCAGTTGCAAGGTGGAGAGTAGATTGGCTGGAGTGGAGGACAGGGAGGTGACCCAGAGAGCTCAGAGTGGTTAAGTAACTTCTCCCAGGCCACTCAGCTTCTAAATTGCAGAGCCTGATTGGAGGCTAAATCCCTCTGACCCCAAAACTTTCCCCACTGCCCCGTGTTGCCAGATGCTGTGGCAGGAAGTATAACATGCATTGTTCAGCCCCTGGCTTCTGGGAGCATGGGATCTGGCTAAAAAGACCAGACTGTCACCATGGGCAGGGGCCCAGCAGCCCAGAGCAGGCAAGGGGCTTTGCAGGAAAGCGAGGCAGTAAGAGTCCAGGTTCTGGGATTATCAGGAAAGGATTCCCCAGGAGAAGCCAACTTTGACCTTGACAGATGAGTAGAATCCCCCAGAAAGGAGGAGGGTGTTTCTGGCACAGGACATGAACAAGGACACTGAGGCCCAGGGTGAGAAGCAGGGAGACGAGCAGGGAAGCTGGGGCGACCATAGGACAGAGGAAGGGCCTGCACCCCCGCCTGCCACGCCAAGGAGTGTAGTCCTCATGGCAGAAGTGGGGAGCCACGGAAGCTCTTTGAGCAGGAAGTGACACAAGATGAGAGTCTCAGAGTCACTGCCCCAAATGACACAAGAGATTCTAACTTAATGTGCCCCATGATGACATCATAGGCTCCCATTCCATGCAAGAAGCAGCCAAGGCTTAGACACTGGAAGTCATTTACGCAGGGTCACCTTAAATCACATTAACCACTAAGTGGCACTCATTCTTCAGAACTCAGTTCAACTGTTATTTTCAGATGCCCCAGGCCAGCACAGTCGCCCACTTACAGGCTCTCACAGCACCTTGTACTACTTTATGGACCTCATTACAATTCTTACAATTGTAATTAAAGAAGTAACTGGGAAGATTTGTTTTAATGTCTTTCTCCTCTGCTAGCAGATAAGCTGCCAGAGGAGGTTTTCTTGCCCTGGGCGGCTCCCATAGTTCATGTGGAGTGCTTTGCCTGCAGTGGAGACTCTGGCTGTGCTTATTGGAGGGAGGCCTGGGGAGGAACGGGGAGGGCCGCAATACTCAGTCTGTGAAATTTGGTGTCTGATCCTCTGTCCTTCTTCCTCCTCGTCCTCATCCCTCTTCCTCACCCTTCCCCACTCCTCCTCTCCCCACTGCAGGGGGCTTCTGGCTTGGTGTGGACCAGGAGGGGGCAGAAGGCACCCTGTCGTGGCTGGGCACCGTCTTCGGCGTGCTGGCTAGCCTCTGTGTCTCGCTCAACGCCATCTACACCACGAAGGTGCTCCCGGCGGTGGACGGCAGCATCTGGCGCCTGACTTTCTACAACAACGTCAACGCCTGCATCCTCTTCCTGCCCCTGCTCCTGCTGCTCGGGGAGCTTCAGGCCCTGCGTGACTTTGCCCAGCTGGGCAGTGCCCACTTCTGGGGGATGATGACGCTGGGCGGCCTGTTTGGCTTTGCCATCGGCTACGTGACAGGACTGCAGATCAAGTTCACCAGTCCGCTGACCCACAATGTGTCGGGCACGGCCAAGGCCTGTGCCCAGAGAGTGCTGGCCGTGCTCTACTACGAGGAGACCAAGAGCTTCCTCTGGTGGACGAGCAACATGATGGTGCTGGGCGGCTCCTCCGCCTACACCTGGGTCAGGGGCTGGGAGATGAAGAAGACTCCGGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGGGGGTGTGAGCACCACAGGCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCGGGGCCAGCACAGTAGTGAAGGCGGTCTCCTGGACCCCAGAAGCGTGCTGTGGTGTGGACTGGGTGCTACTTATAGACCCAATCAGAATACGGTGGTTGAGAAGGAACCAGTGTTTACAAGTAATATCAGAAAGTTGAAGGAACCAGTGTTTACAAGTAATACCAGAAAGTTGCCAAACCCTTCTCTATCCTCTCGTATTTCTGAGTTTTTGTCCTTCCCGAGGGAGCACCCTAGTGAGAGTTGAACCCCTTCCTTCTGCCTCCAGGGCCTGTCTGCCTCCACATCACTCTGAGGACAGGGACAGGCAACAACCTTGAAGGGACAGCAATGGCAAAGCCACAAAGGCTTCACTGTACTCAGGGGAGATGGCCCTACCACAGCCACCTGGAGAGGGTTGGGAAGCCTTCCGTCTGCGGTGGGCAGGCAGCCTCACCCTGGGCCCACAGACCGGCCTTCCTTTGGAGGAAAGTGTGGCCTGGACTGAGGGAGGAAATGAGCGAGTTCCCTCTGACACCAGCAGATCCCCAGGGGCTGCTGGGCAGTGGCCTGGGAATGGGGTGGATTGTGAGAAAGTGCTCACCATCTATACACCCTGTATGTCCAGCTTTTGAACACAAGGGAACCATGCTTCTCTTAGAGGTTAAGCAGGGTCATTAACATCCTCCCCCAGTCCCTAACATCACATTGTCCTGCGTGGCTCCTCTGGCCCTGAGTGGCACCTGTCCCTCTGGTCTCCCAGCACCTGGCCCAGGTAACAGCCTTCTGAAAGCAGAGCCAAGGAGCTGCTTCTCTCTTCTCCCAGTTCTACCTCCCCAGAAGCCTTCCTCCCCAGGTGGGGCTGATGGAGCAAGGGTCCAGACTAGGAGCCTTCCACCCCAGCTGTGTCTGGCGCCCCTAGATCTCTGCAAGGGAGGTGTTACAGCTGGTTCTGAGCCGCTTGCCTTGTGATGGTAAGACACCAACCTTTACATTCTTCCCTGAGGTTGTGGCTGACAGAGCCTGCTTGGCCCCACTGTTAGTCCAGCGAGCTCCTATATCAAAATGCCGTAGGCCGGGTGGCTTACAAACAACAGAAACGTATTGCTCACAGTCCTGGGGGGCTGGGACGCCCAAGATCAAGAGGCCAGCAGATTCGGACTCCGCTGAGGGCTGTTTCCCGATCCATAGATGGTGCCTTCTCGCTGTATCCTCAATGGTAGAAGCACAAACAAGCAAGCTCCTTCCTGCCTCTTTTATAAGGACTCCAACCCTGTTCATGAGGGTTCCGCCCCCATGACCCAATCAGCTCCAAAGGCCCCACCTCCTAATACTGTCACCTTGGGGGTGAGAATTCCAATGTGAATTTGCAGGGGGAGTGGGGGACACACACAAATTTCGGGGCCATACCACCCTTCACCACACCCTCCTGCGCTCAGGGTGGCTTGCAGTCCCTGGCCCTTCTGGTGGGCATTTGGTATGTCCTTTCTCTTGGGGTGATTTCTGATGTTTTTACTCTATATAGTGAAAAGCTAGGGAGAGCGGGTCTTCTCCCCCCTCCCTCTCCAGTCCCCTCACAATCCCAGATGGGTTCTAATGCAGCTGCTGGGGCCTGATGCCCTGAGTTGTTTGTGATTCAATAAAGAATCCATAAGATCCTGTGTGTGTGGCCTGAGGGAAGAGGCAGCAGGGCTGGAGAGGATTTGTGAACAGGGCCTGGGGGTGGAGGGGAGGTTGGGACCTGTCAGAGGCAGCAGGGCTGAAGAAGGTTTGTGAACAGGGCCCTGGGGTGGAGGGGAGCTGGGGATCTGTCAGGAAGGAGGGCTCATCCCTGCCTTCACCAAGCCCAC
|
Task1_train_15747
|
The variant affects gene PEX16 (peroxisomal biogenesis factor 16), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Peroxisome biogenesis disorder 8B
|
GTAATCCAGTTGCTTGAGATGGCCAACCTGCCAGCTGGCCCAGCCGCTCTCCTCTGACAGCTGAGGGGCCCAGGGAGGGAAGTCCCTTGTTTCCAACCCTGGCTCCTCCAGTGGCCTCATTCATGCTCCTGGTCCTGAGTACCGGAGGCTGACAAGTTCTGGCGGTTCCTTCAGCCCCGTCACCCTCTGCATGTTGTTCCCGCACTCACTTCCCAGTGGCCACCTCCCTTTATAAGTCCTGGAGACAACACGTCTCCACGAGCCTGCCTCAGCATCCTGTGCCCACCAAGGCTTGCCCTGCCAGGAACCTGGAGTTCTGTCCACTCTGTCTAACCCCAAAGCCCCTCGTCCTTCTTGCTCCTCGTCTCCTAGACACCACCCTCTTCCTCCACGCCAGTCCCCAAGACTAGCTGGGGTTACCCTTAATCTCCCTATGTCTGCTGCCACTGCCATTGCCCCTCCCACTGCTACAGACCACTGCCTCCAATGTCACGGCCCCCATTCTTCCACCTCTGCCCACCAAAGCATCCTCCACCAGGCTGCTGGAATATTTACAAACACAGACCCCTCCCCGCCTACCATAGACCAGGTCCAAGTTTCTCCCCTGGATATGTGATGCTATGTTCAGTTTGGCCCCGACCTTCCCCTCCAGCGTCCAGCTCCCACCTCCCATGGCTCCACAGAGCTGTGACCCTGGGCACACAGCGGCCCCTTGCAGGCTGTCTACCGAAAAACTGGACAGTTCTACCGGTTTCAAGCCTGCCTGAGTCAAGGCTTGGCCAATGGAGCCCGATGAAACCCTTCACCTCTGTCACCACTGCAGGTAGGCAGTTGCCATTACCGGGGCACCCCCAAGCTAGACCCCGCTCTGGACATGCCACCTCCTGCCAAGTCCCCAGTGTGGTGCCTGCATCCACATGCCTGTTTCCTCCGTTGGTGAGAGGCGGAGGGCAGGGGACTGTGCTTCACTGCTGGTTTCTGATGGCCAGGCATGTGCCCAGAAACGCCTGTTCCACTAAGCTGGAGGCCATGGGAGCCCAGGCAGCCCCTTCCCCTGCCTGTGGGTGAGGACCTGGGGGGCGCTCCTCAGAGGGCCCTGGGGAAAGCAGTGTGTCTTGGAGGAGCTGAGGCATGGAGGACCAAGGTGTAGATGGAGCCCTCTCTGTGGGTTTGAAACTCTAGCATGAGAGGCTGGCTCTTCACAGGGCCAGTGGCTGAGGACAGGCTAAGTTCAGGGAGAAGACGACCAGCCTGCGGCCCACCCTGTCCAGGCCCTCCCCCATAGCAGCTTGCATGGCTCCAGGTGGACCCGGCCTCTGGAGCCTGCAGGGCAAGCATGGGGAAACCCCAGCTCATACCCCCTGAACTGGCCCCGGCTTCCTCCCCGAGCCTGTCCAGCTCCCACTCCCTCCCCAGTGCTGGCCAGTGCCCGATGTCCTTTTTCTAAGGGAGAAAAGCCTTTTACTCTCAACCGAGGATGCAGGGCTTAAAGTGCCACTTGCGTGGGAGCCAGGCTCACTGTTCACCAGGCTCTGTCACAGGGAGGCTGGCAACGCCATGGCCTGGGGCTGCCAGAGCCACAGGGCCCTGCGGAGAAGGGGCAGACGGAGGGCCCCAGCCAGAAGACACGCTGGGCAGCGTTCAGCCATCACCCGGGTTCAGGCTTCCTGTCCTCACCAGGGGCCAGCGAGAGAGCAGCAGTGTTCGCTCCTATGGCTGCCGAGGCGAGCAGCTTCCCGGGCTCCATGAGGTGAAGTCACCGCTTTCTGTGGGAGAGGAGCCTGGATCCCACTCCTAGTGAAGGCTTCTTGGCCCAGCAGTGACAAGGTGCGGGCTGCAGTGGCATCGTCACAGGAGAGCGCAGTCAAGGGTGTCCTGGGAGGAACGCTGGTGGCGACCAGGGCTGTGTGTGGGGCCTGGCCGGTAGGCACGGAGAGGCCGCACGCTGGGACGCTGCCGGAGTCAGTTTTATTAGGGAAGAGGGGCTCCCTGCCCCACCCCTCCCCACACCCTCCTTCCGGGAGGTCTGTCAGCCCCAACTGTAGAAGTAGATTTTCTGCCAGGTGGGCAAGTAATCCATGAGCGGCCCTGCAGTGGGAGAGGGACACATCAGGGCAGGCCAGACCCCAATCTGCACTGTGGCGCCACATACAGCACCTCACCCCTGCGGCCCAGGAGCCAGCCCAGCTGGCTGTCTTGCCCTGCCCCCAGGAGGCAGCACTGCAGGGGACTCTGGCACCATTTACAAAGACCCTCAGGCCCAGAGAAGCTCAGCCAGGGTAGACACTGAGGGGCCTGAGTCAGGTCCAGTCACCCAACCCAAGCCCAGTGGGCCTCTGCTGAGGGAGGATCTCAGCAGCCCGGTGGACCCCTTCTCTGCCATTGAATCCCCCCAAGATGAGATGGTCCCGTATCGCTCCAGGATACTGTGACCAGAAAAAAGCTGGCAGCTGATGTGGTCCCCCCACCAGTGGACACCCTCCTTCCAGCCATCCCTGGCTCCTCAGGCCACCCTGGCCTATGCCCAGGGGCAGTCCCACCCAATCCTGACTTCCCGACTTCCTCTCCTGACTGTGCCAAGAATCAAATTGCAAGGAGACAGAGGAGTCAGGGAGGTGCTTGCATGCATGCGCCTTCCAGCACTACAGTCATCGCGTCCCCATCCCTGCTTACTTGTGACCAGGCCAACGCCAGGGACGTGGTCGGCCAGCAACTGGAGCAGGAAGAGGATCCTGGCCCTGGGGGAGGCAATAAATGGGGAGCAAGCTGAGTGGGGTGGGGGTGGGTCCCTGCAAACCAGGAGGCCCAGAGGCCTTCACTGACCACCGTGCCGAATGCAGCGCATTCCAGAAAACAAAGGTGACTTTCTTGGGAGCTAGGACAAAGCCCGGTACACAAGGGCAAGACCTCTGGGGTTGGCTCTGGCCTCCACCCTCCACCAGCTCAGCTTCGGGGTGGCCGCTGACCCACAACACCTCCTCCCATTCCTCTTTCCCCTTCCACCGACATCCAACACTGAAGGCCTCTAGAGGGTCGCATGTGGAGCAGCGCCCTGGCAGTATGGTGGAGGGTCCAGGGAGGACAACCCCACCCTGCCCTCGGGAAGCCCCCCAGTCTGGCAGAAGTGCTGGGCTGCATGGAAACCTCACAAGCCACCAATGAGAGTAGTCAGGACCTTGGTAGGGGACACAGTACTGAAGAGGGCACATTTTGGTTCAGGGGAAGGGGCAAGGCCCAAGGCCCTGATTTTTAAGACAGGAGGGTTTTCCACAGGGGAACTCGGGTGAGATGAGGATGCTGATGACAATACATAGCGCTACGTGCTTACTACACCCCACGCACTGCTGTACGCGTTAGTCACTGAACCCCTACAAAGTGGGTACTGTCATCATCCCCATCTTACAGGTGAGGAAATGAGGCACAGGCGCATCAAATAACTTGCCCAAGGCTACACATCTGGAAGGCGGCCTGACTCCTTATATGTCTGTCTGAGCAGCAAGAAAAGAGGAAGCCTGGGGGCCGGGTGTGGTGGCTCATGCCTATAATCCCAGCGCTTTGGGAGGCCAAGGCGGGCAGATCAATTGTGGTCAGGAGTTCGAGACGAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAATTAGCCGGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACGTGAGTGAAACTCCGTCCCAAAAAACAAAAGAAAAGAAAAGAAGAAGGCTGGCTGGGTGCAGTGGCTCCACCTATAATCCCAGCACTTTAGGAGGCCAAGGCGGGCCTTTGTTTCCCTAAAGGACAGGGAGCAGGGTCCAGAGAGGTGCCAGGGTGTGGTCCAGAAGGAGCAGCCTTACTCTTTTTTCTGTTTTAAAAAAAAGATGGGTCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGGTGAA
|
GTAATCCAGTTGCTTGAGATGGCCAACCTGCCAGCTGGCCCAGCCGCTCTCCTCTGACAGCTGAGGGGCCCAGGGAGGGAAGTCCCTTGTTTCCAACCCTGGCTCCTCCAGTGGCCTCATTCATGCTCCTGGTCCTGAGTACCGGAGGCTGACAAGTTCTGGCGGTTCCTTCAGCCCCGTCACCCTCTGCATGTTGTTCCCGCACTCACTTCCCAGTGGCCACCTCCCTTTATAAGTCCTGGAGACAACACGTCTCCACGAGCCTGCCTCAGCATCCTGTGCCCACCAAGGCTTGCCCTGCCAGGAACCTGGAGTTCTGTCCACTCTGTCTAACCCCAAAGCCCCTCGTCCTTCTTGCTCCTCGTCTCCTAGACACCACCCTCTTCCTCCACGCCAGTCCCCAAGACTAGCTGGGGTTACCCTTAATCTCCCTATGTCTGCTGCCACTGCCATTGCCCCTCCCACTGCTACAGACCACTGCCTCCAATGTCACGGCCCCCATTCTTCCACCTCTGCCCACCAAAGCATCCTCCACCAGGCTGCTGGAATATTTACAAACACAGACCCCTCCCCGCCTACCATAGACCAGGTCCAAGTTTCTCCCCTGGATATGTGATGCTATGTTCAGTTTGGCCCCGACCTTCCCCTCCAGCGTCCAGCTCCCACCTCCCATGGCTCCACAGAGCTGTGACCCTGGGCACACAGCGGCCCCTTGCAGGCTGTCTACCGAAAAACTGGACAGTTCTACCGGTTTCAAGCCTGCCTGAGTCAAGGCTTGGCCAATGGAGCCCGATGAAACCCTTCACCTCTGTCACCACTGCAGGTAGGCAGTTGCCATTACCGGGGCACCCCCAAGCTAGACCCCGCTCTGGACATGCCACCTCCTGCCAAGTCCCCAGTGTGGTGCCTGCATCCACATGCCTGTTTCCTCCGTTGGTGAGAGGCGGAGGGCAGGGGACTGTGCTTCACTGCTGGTTTCTGATGGCCAGGCATGTGCCCAGAAACGCCTGTTCCACTAAGCTGGAGGCCATGGGAGCCCAGGCAGCCCCTTCCCCTGCCTGTGGGTGAGGACCTGGGGGGCGCTCCTCAGAGGGCCCTGGGGAAAGCAGTGTGTCTTGGAGGAGCTGAGGCATGGAGGACCAAGGTGTAGATGGAGCCCTCTCTGTGGGTTTGAAACTCTAGCATGAGAGGCTGGCTCTTCACAGGGCCAGTGGCTGAGGACAGGCTAAGTTCAGGGAGAAGACGACCAGCCTGCGGCCCACCCTGTCCAGGCCCTCCCCCATAGCAGCTTGCATGGCTCCAGGTGGACCCGGCCTCTGGAGCCTGCAGGGCAAGCATGGGGAAACCCCAGCTCATACCCCCTGAACTGGCCCCGGCTTCCTCCCCGAGCCTGTCCAGCTCCCACTCCCTCCCCAGTGCTGGCCAGTGCCCGATGTCCTTTTTCTAAGGGAGAAAAGCCTTTTACTCTCAACCGAGGATGCAGGGCTTAAAGTGCCACTTGCGTGGGAGCCAGGCTCACTGTTCACCAGGCTCTGTCACAGGGAGGCTGGCAACGCCATGGCCTGGGGCTGCCAGAGCCACAGGGCCCTGCGGAGAAGGGGCAGACGGAGGGCCCCAGCCAGAAGACACGCTGGGCAGCGTTCAGCCATCACCCGGGTTCAGGCTTCCTGTCCTCACCAGGGGCCAGCGAGAGAGCAGCAGTGTTCGCTCCTATGGCTGCCGAGGCGAGCAGCTTCCCGGGCTCCATGAGGTGAAGTCACCGCTTTCTGTGGGAGAGGAGCCTGGATCCCACTCCTAGTGAAGGCTTCTTGGCCCAGCAGTGACAAGGTGCGGGCTGCAGTGGCATCGTCACAGGAGAGCGCAGTCAAGGGTGTCCTGGGAGGAACGCTGGTGGCGACCAGGGCTGTGTGTGGGGCCTGGCCGGTAGGCACGGAGAGGCCGCACGCTGGGACGCTGCCGGAGTCAGTTTTATTAGGGAAGAGGGGCTCCCTGCCCCACCCCTCCCCACACCCTCCTTCCGGGAGGTCTGTCAGCCCCAACTGTAGAAGCAGATTTTCTGCCAGGTGGGCAAGTAATCCATGAGCGGCCCTGCAGTGGGAGAGGGACACATCAGGGCAGGCCAGACCCCAATCTGCACTGTGGCGCCACATACAGCACCTCACCCCTGCGGCCCAGGAGCCAGCCCAGCTGGCTGTCTTGCCCTGCCCCCAGGAGGCAGCACTGCAGGGGACTCTGGCACCATTTACAAAGACCCTCAGGCCCAGAGAAGCTCAGCCAGGGTAGACACTGAGGGGCCTGAGTCAGGTCCAGTCACCCAACCCAAGCCCAGTGGGCCTCTGCTGAGGGAGGATCTCAGCAGCCCGGTGGACCCCTTCTCTGCCATTGAATCCCCCCAAGATGAGATGGTCCCGTATCGCTCCAGGATACTGTGACCAGAAAAAAGCTGGCAGCTGATGTGGTCCCCCCACCAGTGGACACCCTCCTTCCAGCCATCCCTGGCTCCTCAGGCCACCCTGGCCTATGCCCAGGGGCAGTCCCACCCAATCCTGACTTCCCGACTTCCTCTCCTGACTGTGCCAAGAATCAAATTGCAAGGAGACAGAGGAGTCAGGGAGGTGCTTGCATGCATGCGCCTTCCAGCACTACAGTCATCGCGTCCCCATCCCTGCTTACTTGTGACCAGGCCAACGCCAGGGACGTGGTCGGCCAGCAACTGGAGCAGGAAGAGGATCCTGGCCCTGGGGGAGGCAATAAATGGGGAGCAAGCTGAGTGGGGTGGGGGTGGGTCCCTGCAAACCAGGAGGCCCAGAGGCCTTCACTGACCACCGTGCCGAATGCAGCGCATTCCAGAAAACAAAGGTGACTTTCTTGGGAGCTAGGACAAAGCCCGGTACACAAGGGCAAGACCTCTGGGGTTGGCTCTGGCCTCCACCCTCCACCAGCTCAGCTTCGGGGTGGCCGCTGACCCACAACACCTCCTCCCATTCCTCTTTCCCCTTCCACCGACATCCAACACTGAAGGCCTCTAGAGGGTCGCATGTGGAGCAGCGCCCTGGCAGTATGGTGGAGGGTCCAGGGAGGACAACCCCACCCTGCCCTCGGGAAGCCCCCCAGTCTGGCAGAAGTGCTGGGCTGCATGGAAACCTCACAAGCCACCAATGAGAGTAGTCAGGACCTTGGTAGGGGACACAGTACTGAAGAGGGCACATTTTGGTTCAGGGGAAGGGGCAAGGCCCAAGGCCCTGATTTTTAAGACAGGAGGGTTTTCCACAGGGGAACTCGGGTGAGATGAGGATGCTGATGACAATACATAGCGCTACGTGCTTACTACACCCCACGCACTGCTGTACGCGTTAGTCACTGAACCCCTACAAAGTGGGTACTGTCATCATCCCCATCTTACAGGTGAGGAAATGAGGCACAGGCGCATCAAATAACTTGCCCAAGGCTACACATCTGGAAGGCGGCCTGACTCCTTATATGTCTGTCTGAGCAGCAAGAAAAGAGGAAGCCTGGGGGCCGGGTGTGGTGGCTCATGCCTATAATCCCAGCGCTTTGGGAGGCCAAGGCGGGCAGATCAATTGTGGTCAGGAGTTCGAGACGAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAATTAGCCGGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACGTGAGTGAAACTCCGTCCCAAAAAACAAAAGAAAAGAAAAGAAGAAGGCTGGCTGGGTGCAGTGGCTCCACCTATAATCCCAGCACTTTAGGAGGCCAAGGCGGGCCTTTGTTTCCCTAAAGGACAGGGAGCAGGGTCCAGAGAGGTGCCAGGGTGTGGTCCAGAAGGAGCAGCCTTACTCTTTTTTCTGTTTTAAAAAAAAGATGGGTCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGGTGAA
|
Task1_train_15748
|
This alteration occurs within gene PHF21A (PHD finger protein 21A) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
|
CAAAGCAAGGAGGCAAAATTCAAGTTAACTATTCTTATCCCTTGCTTTTAGAGCTATTGAGAGGCATGTTCTGGGAGTAGCTGAAACCTAAGAGCTTAAAAGATGCTCTGGGCTTAGCAATTAATGTTTAAGTATTTCTGTCCCTGGATACCCTCCCCAGTTGACTGGCAGCTGTCTCCCCCACTTTACATGACAAACATCCTGATAAACTACATCTCTAAAAATTGGGGCTGTTTAAAAGTCTCAGGAAAGGCCCTCCCATCAGCACTCCTAACTGAGAGACCTGATTTGTGTAAGAGCATTTTGACTCAAACTTCAAGGCTACAAAGGAACTTGAATGAGCCCTGTGGGTACAGAAAGTCTAGGTCAGCCACTCTTGCCTTACCACATATCTAAGTCAGGGCCCTTGTCTTCTAGGGGCAAGGTCATTGCTTCTAAGCTATGAGTGATCAAAAGTATATGCCCAACACACCAAAGGAAAAAAAAGGGCCAGAGAGATACAAAACTGCCTATAAGCACTGGTAAATGGTATGTAGGATCATGACTTTGCCAACAGTTATCATTTATATTAGGATTATGCACAAGAGTCATGATTCTGTCAGATGTTACAAAAATATTACCTCTCTGTATTAAATTGGTGATGCCTATAGTACAAAGACAGATCGTACTGGTTTATCTTTTCTAGGGAGTTCAGTGCTGCTGGAAGGGGAAGAACAAGATGAATGCTCTCTTGTTTACCCACAAAAGGCATATCCTAGGCACTGTGGATGCAAGCTTTTATCCTCTGACCTTAGCAAGAGATGCCAAGGTCTTTCTGGCTCATTTAACCCCTGTCCTCTTAGCAGATACTGCCCACTATCAGGCCAATTATTGTGGCTTCTGGCTGGGGGGCTCCTTTCCGAGAACTGCATCAGGGGTCACTAAAAAAATCACCAAGCACAAAACAAAACAAAACAAAACAAAAATAACTTAGAGTACTGGTTACTGTGGCCCAGGAATCAATATAAAGCCATGACTTAGGGTTTCCCATCTAAATATTTTTGAGTACTTGAAGGACAGGACTGATGAAACATTAGAATGGGTTACTAAGGGTGGGTATATCTCTTTTGTGGAGAGGGAATGGTAATAGTGTAGTCCTGCCTAAGGCAGACAAAGGGTCAGGATGACCTCCTGAGCTTCCAGTAGCTCTGAGACTGTGTGTGCACATGCAAAAATTAGTATGCTACTCCGCTCACTCTGCAACCTTTCTAGCCTGCAACTATAATTCAGGGACACATTACCATGTGGAGAAAAGGATCTTGGGATGTATTACTGACATCAAAGAAAAATTTCAGTACCTTGTTTATGAGCTCAAACCCTGAGCTGTTAAGACCTATTTAGACTTGCATGGTGAGAGACACTGCTGCTGCTACTGCTATTTTTTCTGCTCTGCCTAAGAGTAAGATTCTGGAATGTCCATGGGAAGGTCTGAAATATGGGATTGGAGCTCTTTAGGAATCTGTTCTTTAGGGAGCCTGTTTTGAGAGTGACCTTTTCTTCCTTAGTTGGAGATGCCCTCTTCTCAAAGATTCTAAGTTCTCAAGTGTGGCTACCTCTTTCCTTCCTGGAAAGTCTGCAGCTCCAAGAAACTCAGCGTCACACTCTGGCCTTGCCGGCAGCAGGACAACCAAGACGCTATTAGGAACACCTTGGCAATGGCAGTGCTCTGTTCTGCTTAATGACTCTCAAATGCTTCCTTTTACATGGGGTTCTGTTCACTGTGCTATTCATGGATGGCCTGGCAGGCTTGGGGCAGAAATGCTACATTAAGCCATTCCCCTGAGTCAGCTTTGCCAGAATCCTAGTAAAGTCAGCTTTTGATTCAGCATACAGAACTCTAATAAGAAATCTCATTCTCTTTTCTCTCCCATTCTCAGAGAACAACAACAAAACTATTTTCAAAGGATAGAGGAGTTAGGTCCTATAATGATGGGAGGAGGGAAGGAGAAGAAACACACACACAAAGCAAAAGCAACAGCAGCAAGGGAGAGATACAAAAAGGTCCTCACCTCTCTTCCGGGTCCCAGGGTGCATTGTGCTGTTTAGGTATGTCACTGCACTCTTCTTACGCTTTGAGGGTTGAAGGAGGAAAGGTGACTGTTGAGTAGTGTGGTTATTACTAATACTGGCACAAGCTAAAGACCAAGCATGGCATGACTGTCAACATGCCGACTAGTTAGTGCTAATCATCCTAAGGTCTCAATGCTCAAGGGTTTTATTGTATGTACTTGGCTCTCAGAGACTCTCTCAGAGAAGCCTGCCTCTGTTGCCGATGACAGCTGTATTGAAGTCAGGGTGAATTAAAATTTTAAGGTAGGCATGTATCTGCTGAAACTTAGGAAAAAAACCTAAGGGGTAAGCAGTGACTAATAAAAATGATAAGTCAAAAAAAATCTACCACTTCACAGAACTGGCCAAGTACAATCAGGGTGCTGCTCTTCAGCAGGTTTTCAGAGGGGAGGCACTGAACAGCTCATAAATAAAACTGGAACATGAGGGAAGGGCCAGATGCTGGCCAGTAATACCTCTGGCTCAAAGACTGCTCCACTGTAGACCGGATTTGCTGTTGTTCTTCTTTTTCGCTCTTGCCTCTTGCTTTGGATTTCTTGAGAGAAGAAAAGGTTTTCATTAGCAGAGAGGCATGGAGAACCTAAAAAACTTAACTTCATTGTTTTATCTATTGGTTTTCCCATAAGAAATCAGAATCAGGGACAAGTCTCTGTTTCACTGAAGCCTCAGCAGAGGCAAGCACACTACTGGAAGCAAATATGTAGGACCATCTACTCTCACCTGCAAGACCACGCTGTCCTACACGTGGTTCTCTGTTGAGAGTTTAACAATAGACAACACTTGTAAACAAGTTGTCCTGATTTTTAGACTGCTGTATATATAGGTCTGGATGAGCTTTATCCATAAGACTTAAACTGAGTAACCAAAGTTCATCATTCTTGAATTAAATAATCAGGACAGGTATAGCTTTGTAACTGTTGTCAACATTCTGATAACCTGGAGTGACCAGAAAATATAAAGGCTTATCAGAAGAGCACTTCGCTGTGCTGTTCAGAAAAAGAAGAGCTCCCCTAAATGAACAGAAGTCACCTGAATTTAGGCAACTGGGGAGGTTTTCCCAGGACAGTAGTGTGGATAATGATAGGAACATTAGACAGAGGGAAGGCAATTTTCCCACTAAAGGAAATAAAGTCCACATTGGCTGAATCATACTCTATTTGTGTTCCAATTTTCTATTCCAGGAATTCAATCAAACATCATTTTCAGGAACAAAGCTGTGGGCCAGAAAAAAAGGCAGTGCCAAGAATATCTTCTCTTACCTTCTAGATGGTCATGTGTTACCAACCCTAGAGACACCATGAAGGCAAGTTTCTGTGCCAGAGAAACAAAAGAAGAATATGCTTCAGTCTGGGTTCTCACAAAGCCAATTGCCAGTTCCTAGTAGGACATTAGGGAAAGCCAGCCCAATGGGCGGGTCTCATGAATGCACAAGAGCAGGCATTCTCTAAGCAGCCATGGAGATCCTCTACAGCAGGGGTGTCCAAGCTCTTGGCTTCCTTCAATGTGGGCCACATTGGAAGAAGAAGAATTGTCTCGAGCCACACATAAAATACACTAACACTAATGATAGCTGATGAGCTTCAAAAAAAAAAAATCGCAAAAAAAACTCATGATGTTTTAAGGAAGTTTACGAATTTGTGTGGGGCCGCATTCAAAGCCATCCTGGGCCACAGGTTAGAAAGTTTGCTCTAGAGGCTCTCTGGTCTAACAGGGCCAAAAGAGAAGGACTGGGGTCTACATCTTCTTTCTCAATGACAGAAATCAGTATCTTGTGTGATCCGAGTGACCCGCCCCACAGAAAAATCCTCTTAAAAAGAAGAGGATTTCATACTCACAAAACATGCAGAGAGTTTTAAAGAGCCTCCCATTTAACAAGCTCCAAATCCTGAGTGTTTCACTTGTCACGACTAGGTCAGTTTCTCACATTTATACTGCCACAATGCTAACTCACAGCTAAATGATTTTCAGGAATGACAGCAGGTGTTTC
|
CAAAGCAAGGAGGCAAAATTCAAGTTAACTATTCTTATCCCTTGCTTTTAGAGCTATTGAGAGGCATGTTCTGGGAGTAGCTGAAACCTAAGAGCTTAAAAGATGCTCTGGGCTTAGCAATTAATGTTTAAGTATTTCTGTCCCTGGATACCCTCCCCAGTTGACTGGCAGCTGTCTCCCCCACTTTACATGACAAACATCCTGATAAACTACATCTCTAAAAATTGGGGCTGTTTAAAAGTCTCAGGAAAGGCCCTCCCATCAGCACTCCTAACTGAGAGACCTGATTTGTGTAAGAGCATTTTGACTCAAACTTCAAGGCTACAAAGGAACTTGAATGAGCCCTGTGGGTACAGAAAGTCTAGGTCAGCCACTCTTGCCTTACCACATATCTAAGTCAGGGCCCTTGTCTTCTAGGGGCAAGGTCATTGCTTCTAAGCTATGAGTGATCAAAAGTATATGCCCAACACACCAAAGGAAAAAAAAGGGCCAGAGAGATACAAAACTGCCTATAAGCACTGGTAAATGGTATGTAGGATCATGACTTTGCCAACAGTTATCATTTATATTAGGATTATGCACAAGAGTCATGATTCTGTCAGATGTTACAAAAATATTACCTCTCTGTATTAAATTGGTGATGCCTATAGTACAAAGACAGATCGTACTGGTTTATCTTTTCTAGGGAGTTCAGTGCTGCTGGAAGGGGAAGAACAAGATGAATGCTCTCTTGTTTACCCACAAAAGGCATATCCTAGGCACTGTGGATGCAAGCTTTTATCCTCTGACCTTAGCAAGAGATGCCAAGGTCTTTCTGGCTCATTTAACCCCTGTCCTCTTAGCAGATACTGCCCACTATCAGGCCAATTATTGTGGCTTCTGGCTGGGGGGCTCCTTTCCGAGAACTGCATCAGGGGTCACTAAAAAAATCACCAAGCACAAAACAAAACAAAACAAAACAAAAATAACTTAGAGTACTGGTTACTGTGGCCCAGGAATCAATATAAAGCCATGACTTAGGGTTTCCCATCTAAATATTTTTGAGTACTTGAAGGACAGGACTGATGAAACATTAGAATGGGTTACTAAGGGTGGGTATATCTCTTTTGTGGAGAGGGAATGGTAATAGTGTAGTCCTGCCTAAGGCAGACAAAGGGTCAGGATGACCTCCTGAGCTTCCAGTAGCTCTGAGACTGTGTGTGCACATGCAAAAATTAGTATGCTACTCCGCTCACTCTGCAACCTTTCTAGCCTGCAACTATAATTCAGGGACACATTACCATGTGGAGAAAAGGATCTTGGGATGTATTACTGACATCAAAGAAAAATTTCAGTACCTTGTTTATGAGCTCAAACCCTGAGCTGTTAAGACCTATTTAGACTTGCATGGTGAGAGACACTGCTGCTGCTACTGCTATTTTTTCTGCTCTGCCTAAGAGTAAGATTCTGGAATGTCCATGGGAAGGTCTGAAATATGGGATTGGAGCTCTTTAGGAATCTGTTCTTTAGGGAGCCTGTTTTGAGAGTGACCTTTTCTTCCTTAGTTGGAGATGCCCTCTTCTCAAAGATTCTAAGTTCTCAAGTGTGGCTACCTCTTTCCTTCCTGGAAAGTCTGCAGCTCCAAGAAACTCAGCGTCACACTCTGGCCTTGCCGGCAGCAGGACAACCAAGACGCTATTAGGAACACCTTGGCAATGGCAGTGCTCTGTTCTGCTTAATGACTCTCAAATGCTTCCTTTTACATGGGGTTCTGTTCACTGTGCTATTCATGGATGGCCTGGCAGGCTTGGGGCAGAAATGCTACATTAAGCCATTCCCCTGAGTCAGCTTTGCCAGAATCCTAGTAAAGTCAGCTTTTGATTCAGCATACAGAACTCTAATAAGAAATCTCATTCTCTTTTCTCTCCCATTCTCAGAGAACAACAACAAAACTATTTTCAAAGGATAGAGGAGTTAGGTCCTATAATGATGGGAGGAGGGAAGGAGAAGAAACACACACACAAAGCAAAAGCAACAGCAGCAAGGGAGAGATACAAAAAGGTCCTCACTTCTCTTCCGGGTCCCAGGGTGCATTGTGCTGTTTAGGTATGTCACTGCACTCTTCTTACGCTTTGAGGGTTGAAGGAGGAAAGGTGACTGTTGAGTAGTGTGGTTATTACTAATACTGGCACAAGCTAAAGACCAAGCATGGCATGACTGTCAACATGCCGACTAGTTAGTGCTAATCATCCTAAGGTCTCAATGCTCAAGGGTTTTATTGTATGTACTTGGCTCTCAGAGACTCTCTCAGAGAAGCCTGCCTCTGTTGCCGATGACAGCTGTATTGAAGTCAGGGTGAATTAAAATTTTAAGGTAGGCATGTATCTGCTGAAACTTAGGAAAAAAACCTAAGGGGTAAGCAGTGACTAATAAAAATGATAAGTCAAAAAAAATCTACCACTTCACAGAACTGGCCAAGTACAATCAGGGTGCTGCTCTTCAGCAGGTTTTCAGAGGGGAGGCACTGAACAGCTCATAAATAAAACTGGAACATGAGGGAAGGGCCAGATGCTGGCCAGTAATACCTCTGGCTCAAAGACTGCTCCACTGTAGACCGGATTTGCTGTTGTTCTTCTTTTTCGCTCTTGCCTCTTGCTTTGGATTTCTTGAGAGAAGAAAAGGTTTTCATTAGCAGAGAGGCATGGAGAACCTAAAAAACTTAACTTCATTGTTTTATCTATTGGTTTTCCCATAAGAAATCAGAATCAGGGACAAGTCTCTGTTTCACTGAAGCCTCAGCAGAGGCAAGCACACTACTGGAAGCAAATATGTAGGACCATCTACTCTCACCTGCAAGACCACGCTGTCCTACACGTGGTTCTCTGTTGAGAGTTTAACAATAGACAACACTTGTAAACAAGTTGTCCTGATTTTTAGACTGCTGTATATATAGGTCTGGATGAGCTTTATCCATAAGACTTAAACTGAGTAACCAAAGTTCATCATTCTTGAATTAAATAATCAGGACAGGTATAGCTTTGTAACTGTTGTCAACATTCTGATAACCTGGAGTGACCAGAAAATATAAAGGCTTATCAGAAGAGCACTTCGCTGTGCTGTTCAGAAAAAGAAGAGCTCCCCTAAATGAACAGAAGTCACCTGAATTTAGGCAACTGGGGAGGTTTTCCCAGGACAGTAGTGTGGATAATGATAGGAACATTAGACAGAGGGAAGGCAATTTTCCCACTAAAGGAAATAAAGTCCACATTGGCTGAATCATACTCTATTTGTGTTCCAATTTTCTATTCCAGGAATTCAATCAAACATCATTTTCAGGAACAAAGCTGTGGGCCAGAAAAAAAGGCAGTGCCAAGAATATCTTCTCTTACCTTCTAGATGGTCATGTGTTACCAACCCTAGAGACACCATGAAGGCAAGTTTCTGTGCCAGAGAAACAAAAGAAGAATATGCTTCAGTCTGGGTTCTCACAAAGCCAATTGCCAGTTCCTAGTAGGACATTAGGGAAAGCCAGCCCAATGGGCGGGTCTCATGAATGCACAAGAGCAGGCATTCTCTAAGCAGCCATGGAGATCCTCTACAGCAGGGGTGTCCAAGCTCTTGGCTTCCTTCAATGTGGGCCACATTGGAAGAAGAAGAATTGTCTCGAGCCACACATAAAATACACTAACACTAATGATAGCTGATGAGCTTCAAAAAAAAAAAATCGCAAAAAAAACTCATGATGTTTTAAGGAAGTTTACGAATTTGTGTGGGGCCGCATTCAAAGCCATCCTGGGCCACAGGTTAGAAAGTTTGCTCTAGAGGCTCTCTGGTCTAACAGGGCCAAAAGAGAAGGACTGGGGTCTACATCTTCTTTCTCAATGACAGAAATCAGTATCTTGTGTGATCCGAGTGACCCGCCCCACAGAAAAATCCTCTTAAAAAGAAGAGGATTTCATACTCACAAAACATGCAGAGAGTTTTAAAGAGCCTCCCATTTAACAAGCTCCAAATCCTGAGTGTTTCACTTGTCACGACTAGGTCAGTTTCTCACATTTATACTGCCACAATGCTAACTCACAGCTAAATGATTTTCAGGAATGACAGCAGGTGTTTC
|
Task1_train_15749
|
Here is a genetic alteration in CREB3L1 (cAMP responsive element binding protein 3 like 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Osteogenesis imperfecta type 16
|
GTCCAGTCCTCTTCTTGCCCAATCTACTGCTGCCATCGCTCCTGCTTGCCCAGCCTGACCCTATGAGAGAGAGGCCCCAGTCACCTTCTGGGGTTGCTGAGCTAGAGCTTAGTGATCTTCTGGAGTTGCTGAGCTTAAGGCCCTGAACCCTGTGAAGTCAGAGGTCACAGAGGACCTCCCACGAATTCAGCTCCTATGATGTCTATGCCAAGGGCGAGCTTGTAAAGGAGCTGGGCCTCTGTGGTGTCAGATGAGGCAGCACCCAGGAATTGGCTACCCAGATGTCAACTGTCTTTCTGACCCTGCAGAGGGGCTTCTGATGTCATAGCTGAGACCAAGCGCCTGGCAGTCCGTGTCCCACAATGTCAGGGCTGGTGCAAGCTCATGCTCAGCTGAACTCATGATGTCCAAGTGGAGCTGATGTGCAACGTTGCTAACTCGGTTTCCCCTGCTCTCCCCAGAGGACCTGGTGCAGATGCCTCCGACGCCCCCCAGCAGCCATGGCAGTGACAGCGACGGCTCCCAGAGTCCCCGCTCTCTGCCCCCCTCCAGCCCTGTCAGGCCCATGGCGCGCTCCTCCACGGCCATCTCCACCTCCCCACTCCTCACTGCCCCTCACGTAAGGAGCTGGGGGTGGGCTGATCCCAGAAATGAGGAATTGAATACATCCACCTGAGCACACTGGCCAGTCAGGAGGGTTTGGGGAGCCCCGAGACTGATCCCCACCCTCATCAGAATTCAGAGGGATGCTTACCTGGCAGATGGGAGTTCTAATCCTTTTATTTTTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGAAACATCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACTTGCCACCGTGTCTGGCTTTTTTTTGTTTGTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGTATTACAGGTGCACACCACCACCCAGCTAATTTATGTACTTTTAGTAGAGACAGCATTTCACCATGTTGGCCAAGCTGGTCTCAATCTCTTGACCTCTTGATCTGCCCACTTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCATCTGGTCAGGAATTCAAATCCTTTCGCCCTGCCTCATGGTGAACAGGAGACTATTGCAGAGCCAGGACTAGAACTTGACATTCCTGACCTCCAGGGGATGACCCAGGCTGCCTCCAAGGAGCGCTGTGTGAGGGGAAGTGCCCAGATGGTCCAGAATCCCCAGGAAACATGGAGCTAGGCCCTGAGCCCTGGGATGGGTGTGGAGTCTCCCAAGCCAAGATTGTAGGGAGGGGTCTGAGGGAGATGCTGTTTGGGGCACCCTGGACAAGTAAGCTTTGAGGGTGCAGTCTCAGGGATGGGATCCAGGAAGCCCTCCCGAACAATGCACTAAGAGCCTAACACCTGAGCTCTCAGCATGGCCCTGGCACCTGACACATGTTACTGAATTTCACCCAGATCCACTCCCTTTCCAGATGAGGAAACTGAGGCATAGAGCATTGTGTGCCTTGCCCAGGTCATATAGATAGCACATGGCAGAGCTTGAATTTGAACCCAGGGCTGCCTGGCTCCTAACTACCACATCATACTTCCTACAGAAATTACAGGGGACATCAGGGCCACTGCTCCTGACAGAGGAGGAGAAGCGGACCCTGATTGCTGAGGGCTACCCCATCCCCACAAAACTCCCCCTCACCAAAGCCGAGGAGAAGGCCTTGAAGAGAGTCCGGAGGAAAATCAAGAACAAGGTAAAGCCTGCCACCCTGGGGCTTCAGAGGGCTTCCTTGGTGGGTGGGCTCCCCTGGCATACCAGCTCTGAAATTGGGGGGCCCAGGAAGTGAATATGTGGCAGTGCTAACCCTTGTTTTCGGGCCTCCCCCTCTAGATCTCAGCCCAGGAGAGCCGTCGTAAGAAGAAGGAGTATGTGGAGTGTCTAGAAAAGAAGTAAGGGGCTTGGGAGGGGTGGGCAATCCACTCCCTTGCCTGACCTGCCCTCCCCTAGGCCCTCCCTCAGGGGGCAGCAGAGGCAGGGGGCACAGGGAGTGTGATGGTGGTGGGCTGGGCCGAGGAGCTGTTGTGAGTCTGGGGGCTGCCCCTGAGCCTGTGCCTGCTTGGCCCCTACAGGGTGGAGACATTTACATCTGAGAACAATGAACTGTGGAAGAAGGTGGAGACCCTGGAGAATGCCAACAGGTGGGTAGTGCCTCCTGCATCCAACCTGGCCCCCTGCCCCTCTGCAACCCGTGCCTGGCTCTGCATAGCTCTGGGAGACAGGGGAGAGGAGAGAGAACTAAGTTTAGGATGACAGGGACCCCAGAAACACACCCTGCAGCCTTGGGCCACTTACATCCTGCCCCTCTCTGTGTTCCCATTTTTCCTCACCTACACCTGGCAGGGCTGGGGAGTTGCTTAAGTGAGCAGATGTTTTCAAAGTGTGGTCCTCAGACCAGCAACAATCCCTGGGAATTATTAGAAATGCTTATTCTCGGGCCCCATGCCAGGTCTACTGAATCAGAAGCTCCAGGGGTAGGGCCCAGCGCCCTGTGTTTTAATAAGCCCTCCACGTAATTAGGTTGCACCCTCAAGTTTGAGAACCACTGGTGTAAATCCTTGTTACTCAAAGCCAGCTGACCCAGACAGGCAACATCAGCATCACCTAGGAGCTTGTTAGAAATGCAGGCTGGGCACGGTGGCTCACGCTTGTAATCTCAGCACTTTGGGAGGATGAGGGGGGTGGATCATTTGAGGTTAGGAGTTCGAGACCAGACTGACCAACATGGTGAAACCCCATCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGAGAAGAATCACTTGAATCCGAGAGGCGGCAGTTGCAGTGAGCTGACACTGTGCCACTGCACTCCAGCCTGGGCCAGACTCTGTCTCAAAAAAAAAAATGCAGAATTTCAGAACTCTCTCCAGACTTACTGAGCTAAAAACTGCACATTCACAAGGTCCTTGGGTGATTCACATGTACTATGAAGTTTGAGAAACAGGAGTATAGAGACAGCAGGACAGTGCCTGGCAGGTAGCAGCCACGTCAAGTCACAGCTCTGGGTTCTTACGCTGCTCTGCCATTTTTGTGACTCTGGAGAAATCGTTAAATATCTCTGGGCCCCTGTTTCTTCGTCTAAATGGGGATGATAGAAACATTATCTCATAGGGCCAGGCACAGTGGCTTACGCCTGTAATCCCAGCATTTTGGGAGGCGGAGGCGGGCAAATCACTTGAGGCCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCGGATGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGGAAAAGAATCACTGGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATGGTGCCACCGTACTCCAGCCTGGGTGGCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAACATTATCTCATAGGATGGATGTGAGGGTATTAATAAGATCCTGCGAATAAAGGATCCAGCCTGATGCTTGGCATTTAGAAATGTGCAATTCATGTTAGCTTTTATTCTTCTTTCATTATTTTTATTTATTTATTTTCTTGAGATAGGGTCTCACTCTGTTGCCCATGCTGGAGCGTAGTGGGGTGATCATAGCTCACTGCAGCCTCAAACTCCTGATTCTCCCCCCTCAACCTCCTAAGTAGCTAGGACCACAGGCGCACACCACCACCCCTGGCTAATTTTAAGTATTTTGTAGAGACGTGGTCTTGCTGTGTTGCCCAGGCTGGTCTCCAGCTCCTGGACTCAAGCATACCTCCTGCTTTGGCTCCCAAAGTGCTGGGATTATAGGTGTGATCCACTGC
|
GTCCAGTCCTCTTCTTGCCCAATCTACTGCTGCCATCGCTCCTGCTTGCCCAGCCTGACCCTATGAGAGAGAGGCCCCAGTCACCTTCTGGGGTTGCTGAGCTAGAGCTTAGTGATCTTCTGGAGTTGCTGAGCTTAAGGCCCTGAACCCTGTGAAGTCAGAGGTCACAGAGGACCTCCCACGAATTCAGCTCCTATGATGTCTATGCCAAGGGCGAGCTTGTAAAGGAGCTGGGCCTCTGTGGTGTCAGATGAGGCAGCACCCAGGAATTGGCTACCCAGATGTCAACTGTCTTTCTGACCCTGCAGAGGGGCTTCTGATGTCATAGCTGAGACCAAGCGCCTGGCAGTCCGTGTCCCACAATGTCAGGGCTGGTGCAAGCTCATGCTCAGCTGAACTCATGATGTCCAAGTGGAGCTGATGTGCAACGTTGCTAACTCGGTTTCCCCTGCTCTCCCCAGAGGACCTGGTGCAGATGCCTCCGACGCCCCCCAGCAGCCATGGCAGTGACAGCGACGGCTCCCAGAGTCCCCGCTCTCTGCCCCCCTCCAGCCCTGTCAGGCCCATGGCGCGCTCCTCCACGGCCATCTCCACCTCCCCACTCCTCACTGCCCCTCACGTAAGGAGCTGGGGGTGGGCTGATCCCAGAAATGAGGAATTGAATACATCCACCTGAGCACACTGGCCAGTCAGGAGGGTTTGGGGAGCCCCGAGACTGATCCCCACCCTCATCAGAATTCAGAGGGATGCTTACCTGGCAGATGGGAGTTCTAATCCTTTTATTTTTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGAAACATCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACTTGCCACCGTGTCTGGCTTTTTTTTGTTTGTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGTATTACAGGTGCACACCACCACCCAGCTAATTTATGTACTTTTAGTAGAGACAGCATTTCACCATGTTGGCCAAGCTGGTCTCAATCTCTTGACCTCTTGATCTGCCCACTTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCATCTGGTCAGGAATTCAAATCCTTTCGCCCTGCCTCATGGTGAACAGGAGACTATTGCAGAGCCAGGACTAGAACTTGACATTCCTGACCTCCAGGGGATGACCCAGGCTGCCTCCAAGGAGCGCTGTGTGAGGGGAAGTGCCCAGATGGTCCAGAATCCCCAGGAAACATGGAGCTAGGCCCTGAGCCCTGGGATGGGTGTGGAGTCTCCCAAGCCAAGATTGTAGGGAGGGGTCTGAGGGAGATGCTGTTTGGGGCACCCTGGACAAGTAAGCTTTGAGGGTGCAGTCTCAGGGATGGGATCCAGGAAGCCCTCCCGAACAATGCACTAAGAGCCTAACACCTGAGCTCTCAGCATGGCCCTGGCACCTGACACATGTTACTGAATTTCACCCAGATCCACTCCCTTTCCAGATGAGGAAACTGAGGCATAGAGCATTGTGTGCCTTGCCCAGGTCATATAGATAGCACATGGCAGAGCTTGAATTTGAACCCAGGGCTGCCTGGCTCCTAACTACCACATCATACTTCCTACAGAAATTACAGGGGACATCAGGGCCACTGCTCCTGACAGAGGAGGAGAAGCGGACCCTGATTGCTGAGGGCTACCCCATCCCCACAAAACTCCCCCTCACCAAAGCCGAGGAGAAGGCCTTGAAGAGAGTCCGGAGGAAAATCAAGAACAAGGTAAAGCCTGCCACCCTGGGGCTTCAGAGGGCTTCCTTGGTGGGTGGGCTCCCCTGGCATACCAGCTCTGAAATTGGGGGGCCCAGGAAGTGAATATGTGGCAGTGCTAACCCTTGTTTTCGGGCCTCCCCCTCTAGATCTCAGTCCAGGAGAGCCGTCGTAAGAAGAAGGAGTATGTGGAGTGTCTAGAAAAGAAGTAAGGGGCTTGGGAGGGGTGGGCAATCCACTCCCTTGCCTGACCTGCCCTCCCCTAGGCCCTCCCTCAGGGGGCAGCAGAGGCAGGGGGCACAGGGAGTGTGATGGTGGTGGGCTGGGCCGAGGAGCTGTTGTGAGTCTGGGGGCTGCCCCTGAGCCTGTGCCTGCTTGGCCCCTACAGGGTGGAGACATTTACATCTGAGAACAATGAACTGTGGAAGAAGGTGGAGACCCTGGAGAATGCCAACAGGTGGGTAGTGCCTCCTGCATCCAACCTGGCCCCCTGCCCCTCTGCAACCCGTGCCTGGCTCTGCATAGCTCTGGGAGACAGGGGAGAGGAGAGAGAACTAAGTTTAGGATGACAGGGACCCCAGAAACACACCCTGCAGCCTTGGGCCACTTACATCCTGCCCCTCTCTGTGTTCCCATTTTTCCTCACCTACACCTGGCAGGGCTGGGGAGTTGCTTAAGTGAGCAGATGTTTTCAAAGTGTGGTCCTCAGACCAGCAACAATCCCTGGGAATTATTAGAAATGCTTATTCTCGGGCCCCATGCCAGGTCTACTGAATCAGAAGCTCCAGGGGTAGGGCCCAGCGCCCTGTGTTTTAATAAGCCCTCCACGTAATTAGGTTGCACCCTCAAGTTTGAGAACCACTGGTGTAAATCCTTGTTACTCAAAGCCAGCTGACCCAGACAGGCAACATCAGCATCACCTAGGAGCTTGTTAGAAATGCAGGCTGGGCACGGTGGCTCACGCTTGTAATCTCAGCACTTTGGGAGGATGAGGGGGGTGGATCATTTGAGGTTAGGAGTTCGAGACCAGACTGACCAACATGGTGAAACCCCATCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGAGAAGAATCACTTGAATCCGAGAGGCGGCAGTTGCAGTGAGCTGACACTGTGCCACTGCACTCCAGCCTGGGCCAGACTCTGTCTCAAAAAAAAAAATGCAGAATTTCAGAACTCTCTCCAGACTTACTGAGCTAAAAACTGCACATTCACAAGGTCCTTGGGTGATTCACATGTACTATGAAGTTTGAGAAACAGGAGTATAGAGACAGCAGGACAGTGCCTGGCAGGTAGCAGCCACGTCAAGTCACAGCTCTGGGTTCTTACGCTGCTCTGCCATTTTTGTGACTCTGGAGAAATCGTTAAATATCTCTGGGCCCCTGTTTCTTCGTCTAAATGGGGATGATAGAAACATTATCTCATAGGGCCAGGCACAGTGGCTTACGCCTGTAATCCCAGCATTTTGGGAGGCGGAGGCGGGCAAATCACTTGAGGCCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCGGATGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGGAAAAGAATCACTGGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATGGTGCCACCGTACTCCAGCCTGGGTGGCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAACATTATCTCATAGGATGGATGTGAGGGTATTAATAAGATCCTGCGAATAAAGGATCCAGCCTGATGCTTGGCATTTAGAAATGTGCAATTCATGTTAGCTTTTATTCTTCTTTCATTATTTTTATTTATTTATTTTCTTGAGATAGGGTCTCACTCTGTTGCCCATGCTGGAGCGTAGTGGGGTGATCATAGCTCACTGCAGCCTCAAACTCCTGATTCTCCCCCCTCAACCTCCTAAGTAGCTAGGACCACAGGCGCACACCACCACCCCTGGCTAATTTTAAGTATTTTGTAGAGACGTGGTCTTGCTGTGTTGCCCAGGCTGGTCTCCAGCTCCTGGACTCAAGCATACCTCCTGCTTTGGCTCCCAAAGTGCTGGGATTATAGGTGTGATCCACTGC
|
Task1_train_15750
|
This mutation occurs in ZNF408 (zinc finger protein 408) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Familial exudative vitreoretinopathy
|
TAGAGTCTTAGTAGCTTTTCAAAATCTGTTTTAAGGTGGATCTTTCAACATGGGATAGGAGGGTGGGGCTTGATTAGTATTGGGTAAGGATTATGACTGAATAGCTTAGGGTTGGTACATACAGCAAGGCTAGAATTTTCAGGCAAGGGACAGTCTCAGACTATGAATTGTCATTCATTGCTTTCTGTTGAAGAGCGACGGGTCTGTTCTTTGGAATAACAATATAGATATTTGCAACTTTTACCTTCCTAAGAGCTTCCTGGAATAGTAAGAAAGAGAGTAAGCTTTGTATGTACACGGTTTCCAGCCTCCCATGTTTCTTCTCTCTGGCGTGGGGGTTCTTTTATATTACAGATGAGCTAAGGTGGGAAGGGGTTTTTTTGTTTTGTTTTGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGGTCTCAGCTCGCTGCAACCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCAGCTAATTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTCAGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGTCTCTGCCTCCCAAGATGCTAGGCTTAACAGGTGTGAGCCACCGTGCCCGGCTGGAAGGGGTCTTGAATCACATCCTAAATATGTGTCTCCAGGGGCGAACAAGGGGATTCTCCATCTGGGATGGCCTTATTCTAGTGATTATCCAGATGGCTGGGACCCCATGGCTCTCAGGAGTGCTTCTCCAAAAGGCGCTTAAGGCTGGACAGGAAGATAAATGGAGTGTGCACCCCATGCTCCAGGGAAGAGATTGGTATCATTGCTCCCTCTAAGGCTCAGGGGCTGGGTGGGAGAAAACATCTGATCCTGTAATTCCCTGGTAACACCATCTGCATTGAAGCTCCCTAAACCCAGTACCCCATCCTTGCCTTGCAGATCCTGGTTCCCAGTCACCCTCTGGCATCCAGGCAGAGAATATGGTGAGCCCTGGACTTAAGTTCCCAACCCAGGACCGAATTTCCAAGGATAGCCAGCCACTTGGCCCATTGCTTCAGGATGGCGACGTGGATGAGGAATGCCCGGCCCAGGCACAGATGCCACCTGAACTTCAGAGCAATTCGGCTACCCAGCAGGACCCAGATGGCAGTGGAGCCAGTTTCTCATCTTCTGCCAGGGGCACCCAGCCGCATGGCTACCTGGCCAAGAAGTTACACAGCCCCAGTGATCAGTGCCCACCCAGAGCAAAGACCCCAGAGCCTGGAGCCCAGCAGTCTGGCTTCCCTACACTCTCGCGGAGCCCTCCTGGCCCAGCAGGAAGCTCCCCAAAGCAGGGGCGACGGTACCGGTGTGGAGAGTGTGGCAAGGCATTCCTACAGCTGTGCCACCTAAAGAAGCACGCATTTGTGCACACGGGCCACAAGCCCTTTCTTTGCACTGAGTGTGGCAAGAGCTATAGCTCAGAGGAGAGCTTCAAAGCCCATATGCTGGGCCACCGTGGGGTGCGGCCCTTCCCCTGTCCACAATGCGACAAGGCCTATGGCACCCAGCGAGACCTCAAAGAGCACCAGGTGGTACATTCAGGTGCCCGGCCCTTTGCTTGTGACCAGTGTGGCAAGGCCTTTGCCCGCCGGCCCTCCCTGCGGCTGCATCGCAAGACCCACCAGGTGCCAGCTGCCCCTGCCCCTTGCCCATGCCCTGTGTGTGGGCGGCCCCTGGCCAACCAGGGCTCCCTGCGGAACCATATGAGGCTCCATACAGGAGAAAAGCCTTTCCTGTGCCCGCACTGTGGCCGGGCGTTTCGTCAGCGGGGCAACCTGCGTGGGCATTTGCGGCTCCACACCGGGGAGCGTCCTTACCGCTGCCCACACTGTGCCGATGCCTTCCCCCAGCTGCCTGAACTGCGGCGCCATCTCATCTCACACACCGGGGAGGCCCACTTGTGCCCGGTGTGTGGCAAGGCCCTCCGAGACCCACACACGCTCCGAGCTCACGAGCGCCTGCACTCCGGAGAGAGGCCCTTTCCCTGTCCCCAGTGTGGCCGTGCTTACACGCTGGCCACCAAGCTGCGGCGCCACCTCAAATCTCACTTGGAGGACAAGCCCTACCGCTGCCCCACCTGTGGCATGGGCTACACCCTCCCGCAGAGCCTCAGGCGGCATCAGCTCAGTCACCGGCCTGAGGCACCCTGCAGCCCACCCTCTGTGCCTTCTGCTGCTTCTGAGCCCACTGTGGTGCTCCTGCAGGCTGAGCCACAACTGCTGGACACACACAGAGAGGAGGAAGTCTCCCCCGCCAGGGATGTTGTTGAGGTCACCATTTCAGAAAGCCAGGAGAAGTGCTTTGTGGTGCCAGAGGAGCCAGATGCCGCCCCCAGCCTGGTGCTAATCCATAAGGACATGGGCCTCGGCGCCTGGGCAGAGGTGGTGGAGGTGGAGATGGGCACCTGACAGCTTTGCCTTTTGCTGACACAGCTCCATAAAGACTCGTGCTTTCTCACTGCTGCGTGTCTGCATCTTCTTTCTTGGGGTTGCCTAGTAGGGATTAGAGTCTACTATGACAGACAGATCAAGGACTTCCCTTCCTGCTTAAGAACCACCAAATCGTGTTCCAAGCATACTAGGTCAAACCTCTTCTGAAGTAGAGATGTTTGAATTGACATCCGGTAGAGCTTGTTGTTCTGCCTCCTTCCCTAGGAACGCCACAGGGTGCTTATTGTTTAAGCGCTGCTGAAGGGACCCAGTGAGGCAGTGGTCGTTGGCAGCGCTACTGCTGACTGGTTGCTTAGCACCAGGATGGTCACACCCATGGAGCTCCTTGAGGGACAGGCGCTTCAATTTGGAAGCAAATCGAATGGCTTTTAAGACTGAACACCGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCGGATCATGAGGTCAGGGGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAAGTAGCCATGAGTGATGGCGAGCGCCTGTGGTCCCAACTACTCAGGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGTGCGACGGAGCAAGACTCTGTCTCAAAAAAAAAAAAAATAGACTGAACACCTTGGGAGGTGGCTAGGGCCAGATCTGTGCCCCTCTGTGTGCCTGGTCTAAAGGCCGCCCTGTTCAGGGAAGGACATGTGTTTTGCATTTACTGTGACCTGCACTGTGCTAGGCACTGGGACACAGCTATGAACGTAACAGAGGCAGTACCCTTTACTGATCCACGCATGCTGGGGGCAGGGAGGCAGAAATCATTGGATGAAAGTTTAAAGGGGCATAGCTGGGTACTGTGAACTTGTTTAATGGGGCAATTTAATGTGGTCTGGAGTGCCAGGGAAGATGTCCCCAAGAATAATAACATTCAGCCCTTACTGTGGGCTAGTGCTTTATATAATCCTCATAACAACCCTGTGAGGTAGGAGTAGTGTTTTTTTCCTACAGATCAGGAAATTGAAGAGCAAAGAGCTTTAAGTATCCTGCCCAAGTTCACAGTGCTACAAGTGGGTTGAGATCCCAGCCCACAAAACCTCGCGCTGGAGTCAGGCTCTTCACTGCTGCACTCTCCTGCCCCGTGTTTCAGCTGTGGCTCGATGGATGTGGAGGTGGGAGGGGAGGTGGTGAAAGACTGGTAGGTCTGAGCTACTGGGACCAACATGGATGGGCGGGGGAAAGGTGGAGAGGGAGGAGGGCCAGATCACATAGGACCATGGCTCAGGAGTTTGGACTTTATTTTCAGGACGTCGAGGAGCACTTTGAAGGGTTTTGAACAGGGGAATAACAGGATCAAAATTGTGTTTGAAAAGACAACTAGGAAATGGATTGGAAAGCAAAATGAAGTTGTGGCAAAGTCAATTAGGAGTCTGCGGGGTGCCTGGGAATGGGGTGGTAGCTGTGGAAATGCAGAGAA
|
TAGAGTCTTAGTAGCTTTTCAAAATCTGTTTTAAGGTGGATCTTTCAACATGGGATAGGAGGGTGGGGCTTGATTAGTATTGGGTAAGGATTATGACTGAATAGCTTAGGGTTGGTACATACAGCAAGGCTAGAATTTTCAGGCAAGGGACAGTCTCAGACTATGAATTGTCATTCATTGCTTTCTGTTGAAGAGCGACGGGTCTGTTCTTTGGAATAACAATATAGATATTTGCAACTTTTACCTTCCTAAGAGCTTCCTGGAATAGTAAGAAAGAGAGTAAGCTTTGTATGTACACGGTTTCCAGCCTCCCATGTTTCTTCTCTCTGGCGTGGGGGTTCTTTTATATTACAGATGAGCTAAGGTGGGAAGGGGTTTTTTTGTTTTGTTTTGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGGTCTCAGCTCGCTGCAACCTCTGCCTCCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCAGCTAATTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTCAGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGTCTCTGCCTCCCAAGATGCTAGGCTTAACAGGTGTGAGCCACCGTGCCCGGCTGGAAGGGGTCTTGAATCACATCCTAAATATGTGTCTCCAGGGGCGAACAAGGGGATTCTCCATCTGGGATGGCCTTATTCTAGTGATTATCCAGATGGCTGGGACCCCATGGCTCTCAGGAGTGCTTCTCCAAAAGGCGCTTAAGGCTGGACAGGAAGATAAATGGAGTGTGCACCCCATGCTCCAGGGAAGAGATTGGTATCATTGCTCCCTCTAAGGCTCAGGGGCTGGGTGGGAGAAAACATCTGATCCTGTAATTCCCTGGTAACACCATCTGCATTGAAGCTCCCTAAACCCAGTACCCCATCCTTGCCTTGCAGATCCTGGTTCCCAGTCACCCTCTGGCATCCAGGCAGAGAATATGGTGAGCCCTGGACTTAAGTTCCCAACCCAGGACCGAATTTCCAAGGATAGCCAGCCACTTGGCCCATTGCTTCAGGATGGCGACGTGGATGAGGAATGCCCGGCCCAGGCACAGATGCCACCTGAACTTCAGAGCAATTCGGCTACCCAGCAGGACCCAGATGGCAGTGGAGCCAGTTTCTCATCTTCTGCCAGGGGCACCCAGCCGCATGGCTACCTGGCCAAGAAGTTACACAGCCCCAGTGATCAGTGCCCACCCAGAGCAAAGACCCCAGAGCCTGGAGCCCAGCAGTCTGGCTTCCCTACACTCTCGCGGAGCCCTCCTGGCCCAGCAGGAAGCTCCCCAAAGCAGGGGCGACGGTACCGGTGTGGAGAGTGTGGCAAGGCATTCCTACAGCTGTGCCACCTAAAGAAGCACGCATTTGTGCACACGGGCCACAAGCCCTTTCTTTGCACTGAGTGTGGCAAGAGCTATAGCTCAGAGGAGAGCTTCAAAGCCCATATGCTGGGCCACCGTGGGGTGCGGCCCTTCCCCTGTCCACAATGCGACAAGGCCTATGGCACCCAGCGAGACCTCAAAGAGCACCAGGTGGTACATTCAGGTGCCCGGCCCTTTGCTTGTGACCAGTGTGGCAAGGCCTTTGCCCGCCGGCCCTCCCTGCGGCTGCATCGCAAGACCCACCAGGTGCCAGCTGCCCCTGCCCCTTGCCCATGCCCTGTGTGTGGGCGGCCCCTGGCCAACCAGGGCTCCCTGCGGAACCATATGAGGCTCCATACAGGAGAAAAGCCTTTCCTGTGCCCGCACTGTGGCCGGGCGTTTCGTCAGCGGGGCAACCTGCGTGGGCATTTGCGGCTCCACACCGGGGAGCGTCCTTACCGCTGCCCACACTGTGCCGATGCCTTCCCCCAGCTGCCTGAACTGCGGCGCCATCTCATCTCACACACCGGGGAGGCCCACTTGTGCCCGGTGTGTGGCAAGGCCCTCCGAGACCCACACACGCACCGAGCTCACGAGCGCCTGCACTCCGGAGAGAGGCCCTTTCCCTGTCCCCAGTGTGGCCGTGCTTACACGCTGGCCACCAAGCTGCGGCGCCACCTCAAATCTCACTTGGAGGACAAGCCCTACCGCTGCCCCACCTGTGGCATGGGCTACACCCTCCCGCAGAGCCTCAGGCGGCATCAGCTCAGTCACCGGCCTGAGGCACCCTGCAGCCCACCCTCTGTGCCTTCTGCTGCTTCTGAGCCCACTGTGGTGCTCCTGCAGGCTGAGCCACAACTGCTGGACACACACAGAGAGGAGGAAGTCTCCCCCGCCAGGGATGTTGTTGAGGTCACCATTTCAGAAAGCCAGGAGAAGTGCTTTGTGGTGCCAGAGGAGCCAGATGCCGCCCCCAGCCTGGTGCTAATCCATAAGGACATGGGCCTCGGCGCCTGGGCAGAGGTGGTGGAGGTGGAGATGGGCACCTGACAGCTTTGCCTTTTGCTGACACAGCTCCATAAAGACTCGTGCTTTCTCACTGCTGCGTGTCTGCATCTTCTTTCTTGGGGTTGCCTAGTAGGGATTAGAGTCTACTATGACAGACAGATCAAGGACTTCCCTTCCTGCTTAAGAACCACCAAATCGTGTTCCAAGCATACTAGGTCAAACCTCTTCTGAAGTAGAGATGTTTGAATTGACATCCGGTAGAGCTTGTTGTTCTGCCTCCTTCCCTAGGAACGCCACAGGGTGCTTATTGTTTAAGCGCTGCTGAAGGGACCCAGTGAGGCAGTGGTCGTTGGCAGCGCTACTGCTGACTGGTTGCTTAGCACCAGGATGGTCACACCCATGGAGCTCCTTGAGGGACAGGCGCTTCAATTTGGAAGCAAATCGAATGGCTTTTAAGACTGAACACCGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCGGATCATGAGGTCAGGGGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAAGTAGCCATGAGTGATGGCGAGCGCCTGTGGTCCCAACTACTCAGGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGTGCGACGGAGCAAGACTCTGTCTCAAAAAAAAAAAAAATAGACTGAACACCTTGGGAGGTGGCTAGGGCCAGATCTGTGCCCCTCTGTGTGCCTGGTCTAAAGGCCGCCCTGTTCAGGGAAGGACATGTGTTTTGCATTTACTGTGACCTGCACTGTGCTAGGCACTGGGACACAGCTATGAACGTAACAGAGGCAGTACCCTTTACTGATCCACGCATGCTGGGGGCAGGGAGGCAGAAATCATTGGATGAAAGTTTAAAGGGGCATAGCTGGGTACTGTGAACTTGTTTAATGGGGCAATTTAATGTGGTCTGGAGTGCCAGGGAAGATGTCCCCAAGAATAATAACATTCAGCCCTTACTGTGGGCTAGTGCTTTATATAATCCTCATAACAACCCTGTGAGGTAGGAGTAGTGTTTTTTTCCTACAGATCAGGAAATTGAAGAGCAAAGAGCTTTAAGTATCCTGCCCAAGTTCACAGTGCTACAAGTGGGTTGAGATCCCAGCCCACAAAACCTCGCGCTGGAGTCAGGCTCTTCACTGCTGCACTCTCCTGCCCCGTGTTTCAGCTGTGGCTCGATGGATGTGGAGGTGGGAGGGGAGGTGGTGAAAGACTGGTAGGTCTGAGCTACTGGGACCAACATGGATGGGCGGGGGAAAGGTGGAGAGGGAGGAGGGCCAGATCACATAGGACCATGGCTCAGGAGTTTGGACTTTATTTTCAGGACGTCGAGGAGCACTTTGAAGGGTTTTGAACAGGGGAATAACAGGATCAAAATTGTGTTTGAAAAGACAACTAGGAAATGGATTGGAAAGCAAAATGAAGTTGTGGCAAAGTCAATTAGGAGTCTGCGGGGTGCCTGGGAATGGGGTGGTAGCTGTGGAAATGCAGAGAA
|
Task1_train_15751
|
This genomic variant is located on Chromosome 11, within the F2 (coagulation factor II, thrombin) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Thrombophilia due to thrombin defect
|
CGTCTTCTGTCCTGAAGGCCTGGCTCAGAACAGGCACAGTCAGCCCTGCCCACGTTCCATTGGCCAGAGCAAGTATATGTTCAAGGCCAGGGTCAAGAGGTAAACTACACCTCAGCCTGTAAAATCACAGAGCAAGGGATGTGGATGCAGGCAGGGGTAAAGAATTTGTGCCGATTACCAGTCCACAAACATGGGTTAGTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAACTGCTGAGATTACAGGGGTGAGGCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCTCTGCCTCAGCCTCTCATATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGCCTGGCTGATCTTGAACTCCTGACCTCCGGTGATCTGCCCAGCTCGGCCTCCCAAAGTTCTGGGATTACAGGTGTAAGCCACTGCGCCTGGCCCCTGGAATTGGTCTTATAGCAAGTTTATCCCAACAAAAACAGCTACTATTTACTCCCCAACCCCCATACACACGCACACACATTGATGATAAATAAGTTGCAGGCTTGCAGAAATTGACCCATCCAGGTGAACAGCCTAGTGATCCCAGCAAGCGTCCTGCTGTGCAGCTATAAAAACATGACTCCTCCAGCAGCTCCAGGCAGCCACTACCAGTTAATTACAGATGGCCTAGGAGGCCAAACCTGGTTACTATCTCTGGTTTATTATGTGCCAGACACTTATGCTGTATATTTTGTTTAATCCTCTCAACAAACCTGCAAAAGTGGCATTAGTAACCCCTTTAAAGGCAAACGGTCAGAAGCCCAGAGAGGTTAAGTAACCTGAGGTCACACAGGCAGAAAGCAGCAAGACCGGGGTTCACACCCCTGTCTGTTCCGGTCCATGTGTGGTCTCACTCACTCTGCTGCCTCCTTGCCCCTCACCCACCAGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGC
|
CGTCTTCTGTCCTGAAGGCCTGGCTCAGAACAGGCACAGTCAGCCCTGCCCACGTTCCATTGGCCAGAGCAAGTATATGTTCAAGGCCAGGGTCAAGAGGTAAACTACACCTCAGCCTGTAAAATCACAGAGCAAGGGATGTGGATGCAGGCAGGGGTAAAGAATTTGTGCCGATTACCAGTCCACAAACATGGGTTAGTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAACTGCTGAGATTACAGGGGTGAGGCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCTCTGCCTCAGCCTCTCATATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGCCTGGCTGATCTTGAACTCCTGACCTCCGGTGATCTGCCCAGCTCGGCCTCCCAAAGTTCTGGGATTACAGGTGTAAGCCACTGCGCCTGGCCCCTGGAATTGGTCTTATAGCAAGTTTATCCCAACAAAAACAGCTACTATTTACTCCCCAACCCCCATACACACGCACACACATTGATGATAAATAAGTTGCAGGCTTGCAGAAATTGACCCATCCAGGTGAACAGCCTAGTGATCCCAGCAAGCGTCCTGCTGTGCAGCTATAAAAACATGACTCCTCCAGCAGCTCCAGGCAGCCACTACCAGTTAATTACAGATGGCCTAGGAGGCCAAACCTGGTTACTATCTCTGGTTTATTATGTGCCAGACACTTATGCTGTATATTTTGTTTAATCCTCTCAACAAACCTGCAAAAGTGGCATTAGTAACCCCTTTAAAGGCAAACGGTCAGAAGCCCAGAGAGGTTAAGTAACCTGAGGTCACACAGGCAGAAAGCAGCAAGACCGGGGTTCACACCCCTGTCTGTTCCGGTCCATGTGTGGTCTCACTCACTCTGCTGCCTCCTTGCCCCTCACCCACCAGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGTGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGC
|
Task1_train_15752
|
A mutation found in F2 (coagulation factor II, thrombin) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Congenital prothrombin deficiency
|
CGATTACCAGTCCACAAACATGGGTTAGTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAACTGCTGAGATTACAGGGGTGAGGCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCTCTGCCTCAGCCTCTCATATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGCCTGGCTGATCTTGAACTCCTGACCTCCGGTGATCTGCCCAGCTCGGCCTCCCAAAGTTCTGGGATTACAGGTGTAAGCCACTGCGCCTGGCCCCTGGAATTGGTCTTATAGCAAGTTTATCCCAACAAAAACAGCTACTATTTACTCCCCAACCCCCATACACACGCACACACATTGATGATAAATAAGTTGCAGGCTTGCAGAAATTGACCCATCCAGGTGAACAGCCTAGTGATCCCAGCAAGCGTCCTGCTGTGCAGCTATAAAAACATGACTCCTCCAGCAGCTCCAGGCAGCCACTACCAGTTAATTACAGATGGCCTAGGAGGCCAAACCTGGTTACTATCTCTGGTTTATTATGTGCCAGACACTTATGCTGTATATTTTGTTTAATCCTCTCAACAAACCTGCAAAAGTGGCATTAGTAACCCCTTTAAAGGCAAACGGTCAGAAGCCCAGAGAGGTTAAGTAACCTGAGGTCACACAGGCAGAAAGCAGCAAGACCGGGGTTCACACCCCTGTCTGTTCCGGTCCATGTGTGGTCTCACTCACTCTGCTGCCTCCTTGCCCCTCACCCACCAGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTT
|
CGATTACCAGTCCACAAACATGGGTTAGTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAACTGCTGAGATTACAGGGGTGAGGCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCTCTGCCTCAGCCTCTCATATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGCCTGGCTGATCTTGAACTCCTGACCTCCGGTGATCTGCCCAGCTCGGCCTCCCAAAGTTCTGGGATTACAGGTGTAAGCCACTGCGCCTGGCCCCTGGAATTGGTCTTATAGCAAGTTTATCCCAACAAAAACAGCTACTATTTACTCCCCAACCCCCATACACACGCACACACATTGATGATAAATAAGTTGCAGGCTTGCAGAAATTGACCCATCCAGGTGAACAGCCTAGTGATCCCAGCAAGCGTCCTGCTGTGCAGCTATAAAAACATGACTCCTCCAGCAGCTCCAGGCAGCCACTACCAGTTAATTACAGATGGCCTAGGAGGCCAAACCTGGTTACTATCTCTGGTTTATTATGTGCCAGACACTTATGCTGTATATTTTGTTTAATCCTCTCAACAAACCTGCAAAAGTGGCATTAGTAACCCCTTTAAAGGCAAACGGTCAGAAGCCCAGAGAGGTTAAGTAACCTGAGGTCACACAGGCAGAAAGCAGCAAGACCGGGGTTCACACCCCTGTCTGTTCCGGTCCATGTGTGGTCTCACTCACTCTGCTGCCTCCTTGCCCCTCACCCACCAGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCAAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTT
|
Task1_train_15753
|
This variant impacts the gene F2 (coagulation factor II, thrombin) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Congenital prothrombin deficiency
|
GTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAACTGCTGAGATTACAGGGGTGAGGCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCTCTGCCTCAGCCTCTCATATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGCCTGGCTGATCTTGAACTCCTGACCTCCGGTGATCTGCCCAGCTCGGCCTCCCAAAGTTCTGGGATTACAGGTGTAAGCCACTGCGCCTGGCCCCTGGAATTGGTCTTATAGCAAGTTTATCCCAACAAAAACAGCTACTATTTACTCCCCAACCCCCATACACACGCACACACATTGATGATAAATAAGTTGCAGGCTTGCAGAAATTGACCCATCCAGGTGAACAGCCTAGTGATCCCAGCAAGCGTCCTGCTGTGCAGCTATAAAAACATGACTCCTCCAGCAGCTCCAGGCAGCCACTACCAGTTAATTACAGATGGCCTAGGAGGCCAAACCTGGTTACTATCTCTGGTTTATTATGTGCCAGACACTTATGCTGTATATTTTGTTTAATCCTCTCAACAAACCTGCAAAAGTGGCATTAGTAACCCCTTTAAAGGCAAACGGTCAGAAGCCCAGAGAGGTTAAGTAACCTGAGGTCACACAGGCAGAAAGCAGCAAGACCGGGGTTCACACCCCTGTCTGTTCCGGTCCATGTGTGGTCTCACTCACTCTGCTGCCTCCTTGCCCCTCACCCACCAGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTG
|
GTGTTTGTTCTCTAGGCATCCCTGTCGGGCCCATTGCTCATTCCTGGGGTTGGTCTTTTTTTTTTTTCTTTCTAAGATGGAGTCTCACTCCCTTGCCCAGGCTGTTGGAGTGCAGTGGCCCTATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTAGGATTACAGGCGTGTGCCACCACTCCTGGCTAATTTTTTTTTATGTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAACTGCTGAGATTACAGGGGTGAGGCACTGCGCCCGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCTCTGCCTCAGCCTCTCATATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGCCTGGCTGATCTTGAACTCCTGACCTCCGGTGATCTGCCCAGCTCGGCCTCCCAAAGTTCTGGGATTACAGGTGTAAGCCACTGCGCCTGGCCCCTGGAATTGGTCTTATAGCAAGTTTATCCCAACAAAAACAGCTACTATTTACTCCCCAACCCCCATACACACGCACACACATTGATGATAAATAAGTTGCAGGCTTGCAGAAATTGACCCATCCAGGTGAACAGCCTAGTGATCCCAGCAAGCGTCCTGCTGTGCAGCTATAAAAACATGACTCCTCCAGCAGCTCCAGGCAGCCACTACCAGTTAATTACAGATGGCCTAGGAGGCCAAACCTGGTTACTATCTCTGGTTTATTATGTGCCAGACACTTATGCTGTATATTTTGTTTAATCCTCTCAACAAACCTGCAAAAGTGGCATTAGTAACCCCTTTAAAGGCAAACGGTCAGAAGCCCAGAGAGGTTAAGTAACCTGAGGTCACACAGGCAGAAAGCAGCAAGACCGGGGTTCACACCCCTGTCTGTTCCGGTCCATGTGTGGTCTCACTCACTCTGCTGCCTCCTTGCCCCTCACCCACCAGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTGGAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCAAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTG
|
Task1_train_15754
|
Chromosome 11 houses a mutation in gene F2 (coagulation factor II, thrombin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Congenital prothrombin deficiency
|
GCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAA
|
GCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTGAGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGACGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAA
|
Task1_train_15755
|
A genetic alteration is present in F2 (coagulation factor II, thrombin) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Congenital prothrombin deficiency
|
ACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAATAGGGTGGCCAGACAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGACGCATGCCTGTAGTCGCA
|
ACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGTGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAATAGGGTGGCCAGACAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGACGCATGCCTGTAGTCGCA
|
Task1_train_15756
|
A mutation found in F2 (coagulation factor II, thrombin) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Congenital prothrombin deficiency
|
CCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAATAGGGTGGCCAGACAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGACGCATGCCTGTAGTCGCAG
|
CCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCACATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAATAGGGTGGCCAGACAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGACGCATGCCTGTAGTCGCAG
|
Task1_train_15757
|
This sequence variant lies in F2 (coagulation factor II, thrombin) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
|
GGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAATAGGGTGGCCAGACAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGACGCATGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGG
|
GGGCGTGTGGTGCTATGTGGCCGGGAAGCCTGGCGACTTTGGGTACTGCGACCTCAACTATTGTGGTGAGCTGCCTGGGTAGGGGGCCTGAGTTGCAGGGACAAATCCTGGTGGGAATAACAACAGCCGCTTCTGCTTATCGAACGCTTACCTCATTGAGTGCGCTCATTACAGCCTTACAGTAACCAGGTGGGGGGTAAGGTCCTGTGCCCATTTCACAGATAAGTACACTGAGGCCCCAGGAGGTTATTGCCTAGTAGCCCAACTGTGCATGCACGCTTAACCTCTGCACCAAATGGCCTCCAAGGCCCGTAGGGGAATTGGGGGGATCTAGGGGATGGGTGAGGAATGGCCCAGCCCAGTCCCAGCCGGTGCCTGGGTCCCAACAGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGGTGAGGTAGTGGGCATCCGAGGGGATGCGGGGCTGCGGGGCTGGTGGCCAGGACTTGCCCCTCACTGCTTGGCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCACACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAATAGGGTGGCCAGACAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGACGCATGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGG
|
Task1_train_15758
|
This sequence change occurs on Chromosome 11, altering F2 (coagulation factor II, thrombin). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Congenital prothrombin deficiency
|
GCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAATAGGGTGGCCAGACAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGACGCATGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCAGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGGGCATCATTGCACTCCAGCTGGGCAACACAGCAAGACTCCATTGATCGATCGATCAATCAATCAATCAGGTGGCCAGAGAAGGTTGGAGAAGGCCTCCCTGAGAAGGTGATGTCTGGGCAGGGACTGGAAGAGGGGAAGGAAGGAGTGAGCAGGCATATCTAGGGGAGGAGCACCGCAGGCTGGGGGCATGGCAGGCACTAAGGCCCTGAGGTGGGAGCACTCTTGGCTTGTCTGGGGAGCAGTAGGGAGGCCTGGGGGGCTGAGGAGGGGCAGCAGTGGGTGAGGGGAGAGAGGGGGGCAGGCAGAGGACAGCCACTTCCTTTAGGGCCTGGAAGGACTTTATTGAGTGAGATGGGAAGTTATTGAGGGGCTTGAGGCAGGTTAAGAAATGATGTGACTGACTTTAAAAGTAAAAAATAAAAAAATTTAGTGTAATTTCAGACTCACAGAAAAGTTGTAAAAATAATACAAAGATTTCCTGTATACTGTCATCCAGATTGTCCTCCATTCTGTGGATGTGTGGGAATTTTTATATAT
|
GCTTGCTCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGTGTGTCCTGGAGCCCTGCGCTACCATTCACTCCTGGGGGCAGGTGTGCTGCTGGACCCCCACCCTCAGGCCCTGCCTGCAGGCCTGGGCTTTACAGATGACAACAGCTGAGCATCCAGGATCCCACCAACTCCACACAGCAGCCACATGAGATGGGTTGTTTACTTCTTTTTTTTTGTTTCTTAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGCTGCAATCTCGGCTCACTACCTCGATCTCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGAATTTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTAAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACCACACCCGGCCCATGGGTCCTTTACTTCTAAGCAGATGGTAAAGCTGAGACTGACGGAGCTGGTGGCTCACCTCCGCGCACAGCTAATGGGTTTGAATCCAGTTCTTCTGATTCCAGAGCTGTGCTACGCTATGTGAACTCTGGACTGGAAGGACCTAGTTAGGGGGTGCAAAAAGCAGGAGGCAGGTCAGGTGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGAAGATCACTTGAGGGCAGGAGTTCGAGGCCAGCCTGGGCAAAATGGTAAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTAGCAGCATGTCCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCGGGAGGATCGCCTGAGCCCAGGAGGCTGAGGCTTCAGTAAGCTGTGACTGTACCATTGCACTCCAGCCTGGGTGACAAGAGTGAGACCCTGTCTCAAAAATAAATAAATAAATAAATAAAAAAGTGTGAGGCAGCCCCTCAGCATCACACGGAGGCTCCAGGCCCCAAAGGCGGCCAGCCCAAGCTTGGATCTGGGCCCCGGAGGCAGCTCTGCCCAGCTGGGTTCTTAGACCTGGGATTGTTACTTCTAGGGCTGGTGTAGAGGCAGCCCCCTCATCCTCAGCTCCTAATGCTTCCTGCTGCCCCTCCCAGGCAGGTGATGCTTTTCCGGAAGAGTCCCCAGGAGCTGCTGTGTGGGGCCAGCCTCATCAGTGACCGCTGGGTCCTCACCGCCGCCCACTGCCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGTGTCTGGCAGGGGTCTGAGTCCTCCAAAGCGATCATGAGGGGCCCTGGTGGCTCCGGGACACATAGGATGTTCTGTATACCCCCCAGAATATAACATCCCAGCAGTCTCTGCTGGAAAGCCCATTTGGTCACGTCCTGACTGAGGCTTGGAGCTGCGGGGAGAAATCCGTCTGTCTCCTGGTCCCTCCAACACTAGGATATAGCCCATGTGGGAGTCTCTGAAAATAGAGTCTGTCTGGACTAGGGCGTGCAGCCTGTGCCCCTGTCCCCGTCCTCCAGGCTGTCTGACTCCAAAGCCCTGCACGGCTTTAGGCCCAGGAAGAAACACCCAGGGGGCTGCCATGGCAGGAACCAGCCCTATCCCCTCCCTGGTGGCCTGCAGGACACACTGTCTCCCAGACCCCAAGGGCAGGCAGTTTCCTGCTCCTTGCTGGGTGAACCTGCAGCTTCTCCATTTCTTTCTTGGGGTCTCTGCAGGTACGAGCGAAACATTGAAAAGATATCCATGTTGGAAAAGATCTACATCCACCCCAGGTACAACTGGCGGGAGAACCTGGACTGGGACATTGCCCTGATGAAGCTGAAGAAGCCTGTTGCCTTCAGTGACTACATTCACCCTGTGTGTCTGCCCGACAGGGAGACGGCAGCCAGGTGGGCCACCAGATGCTTGTTAGCTGAGGGGCAGAAGCCAAGTTCTGGGCCTGGCTCTGATACCAAGTAGCCTTGCAAGAGCCCCTTTCCCTTTTCCAGGCCTCGGTTTCTTGGAGTGAACCCAAAAGTTCTTTTCAGTACTGGCGTTTTATTTTTTATTTATATTTATTTATTTACTGACGGAGTTCCACTCTTGTCTCCCAGGCTGGAGTGTAGTTGTGCGATCTTGGCTCACTGCAACCCCACCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCTAATTTTTGTATTTTTAGTAGAGACTGGTGGGTTTCACCGTGTCGGCCAGGTTGGTCTCGAACCCCTGACCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAGTGCCGAGACCACAGGCGTGAACGTCTGTGCCCAGCCAGCTCTGGCGTTTTAGATTCTGGTCTCTAAGAAATGGCGTTGGGGCCAGGCGGCTCCTGTGGGGGTTGGCTCTCACTAGGCCCTTCTTCCTTCCCCAAAGCTTGCTCCAGGCTGGATACAAGGGGCGGGTGACAGGCTGGGGCAACCTGAAGGAGACGTGGACAGCCAACGTTGGTAAGGGGCAGCCCAGTGTCCTGCAGGTGGTGAACCTGCCCATTGTGGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCACTGACAACATGTTCTGTGCTGGCAAGTCTGTGCAGGGCGGGCTGAGGGAACAGTGGGGCCCAAGCTGGGAGAACTGAGTTGTGCCTGGGTTCAAGCCATGTGACTTTGAGCAAGTTGCCTAACCTCTTGGTGGCTCAGTTTCTTCCTCTGTAAAATGGAGGTAAAAGTCTCTATCCCATAAGGTTATGGGAGGGTTAAATGAAGTAGTATATATTAATGTACTTGGCATAGTATCAGTCACCAGTGAGCTCAGATAGCAGCAAGAGGCTGCGGGTAGGGAAATGCCATTCATTCAGTCACTCAGCAAATATTTATTGAGCGCCTATCACGTTCCAGGCAGCGTTCTAGGGTATACAGCAGGGACCCAGACGGACAATGTCTGTGCCCTCAGAGAGCTTCCTTCCTAGGAGGGCACATCCATAAACAGATCTAAAACAGCAATCCCTGACCAGTGCTGTGAAGAAAAATGAAGCACAGGGAGAGAGAACGGCTGATGAAGTGGGCTTCTAAATAGGGTGGCCAGACAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGACGCATGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCAGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGGGCATCATTGCACTCCAGCTGGGCAACACAGCAAGACTCCATTGATCGATCGATCAATCAATCAATCAGGTGGCCAGAGAAGGTTGGAGAAGGCCTCCCTGAGAAGGTGATGTCTGGGCAGGGACTGGAAGAGGGGAAGGAAGGAGTGAGCAGGCATATCTAGGGGAGGAGCACCGCAGGCTGGGGGCATGGCAGGCACTAAGGCCCTGAGGTGGGAGCACTCTTGGCTTGTCTGGGGAGCAGTAGGGAGGCCTGGGGGGCTGAGGAGGGGCAGCAGTGGGTGAGGGGAGAGAGGGGGGCAGGCAGAGGACAGCCACTTCCTTTAGGGCCTGGAAGGACTTTATTGAGTGAGATGGGAAGTTATTGAGGGGCTTGAGGCAGGTTAAGAAATGATGTGACTGACTTTAAAAGTAAAAAATAAAAAAATTTAGTGTAATTTCAGACTCACAGAAAAGTTGTAAAAATAATACAAAGATTTCCTGTATACTGTCATCCAGATTGTCCTCCATTCTGTGGATGTGTGGGAATTTTTATATAT
|
Task1_train_15759
|
Here is a mutation in F2 (coagulation factor II, thrombin) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Congenital prothrombin deficiency
|
GGGTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGG
|
GGGTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGAGCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGG
|
Task1_train_15760
|
This sequence change occurs on Chromosome 11, altering F2 (coagulation factor II, thrombin). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Thrombophilia due to thrombin defect
|
GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGGAA
|
GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCAGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGGAA
|
Task1_train_15761
|
Here is a genetic alteration in F2 (coagulation factor II, thrombin) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Congenital prothrombin deficiency
|
GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGGAA
|
GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCAGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGGAA
|
Task1_train_15762
|
A genomic change on Chromosome 11 affects F2 (coagulation factor II, thrombin). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Thrombophilia due to thrombin defect
|
GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGGAA
|
GTTACAGGTGCACGCCACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCTGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGGAA
|
Task1_train_15763
|
This sequence change occurs on Chromosome 11, altering F2 (coagulation factor II, thrombin). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Congenital prothrombin deficiency
|
CACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGGCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGGAAATAGCCCATCAGTGG
|
CACCATGCCCGGCTAATTTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGAAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTACACTGCCACGCCCAGCTAATTTTTTGTATTTAGTAGAGACAGGGTTTCACCGCGTTCGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGTATTACGGGCGTGAGCCACTGCGCCCGGCCAGGCCTATTATTTTTCTATTGTGGTTCATTAATTTCTGCTTTTTTCTCTTAAAAAGTTTGCTTACGTTTTTGTCTGGTTTACTTTGCTGTTCTCTTGCTAGCTTTTTTTTTTTTCAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCTTCTTGCTTCAGCCTCCCACGTAGCTAGGATCAGAGGTACATGCCACCATGTCCGGCTAATTTTTTTTTTTCGAGACAGAGTCTTGTTCTGTCGCTCAGGCGGTAGTGCAGTGGTGCAATCCCGGCTCACTGCAACCTCCACCTCCACCTCCCAGGTTCAAGCAATTCTACCTCAGTCTCCTGAGTAGCTGGGATTATAGGCGCACACCAACATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTTAAACTCCTGACTTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAGCACCTAGTGAAGGTGTGGTTTTTTTGTGTAGGTTTTACTGTTGTTAGTGTTGTTCTGTATTGTTTGTAGAGGATACGTGGGGAGATTTGGATAAAAGCAACTATCATTATTATCCTCATCAGACTTGTAGGTCTAACTTTTTAATTTTTTAATTTTTAATTTAAATTTTTTTCTTGGTCTTTTATCATTAATTAATTTTTTCGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTGGTGACATGATCACGGCTCACTGCAGCCTTAACCTCCCAGGCGCAAGTGATCCTCCTCTCTTAGCCTCCCGAGTAGCTGGGACTCCAGGCATGTGCCACCATGCCCAGCTAATTTTTTGTAGAGAGAGGGTTTTGCCATATTGCCCAGGCTGGTCTTGAACTGCTGAGCTCAAGTGATCCACCCGGCTTGGGCATGAGCCACCTCCCCTGGTCTGGTCCAACTTTTTAAAAGCATTATTCTGCCTGTTGGGTGGAGAATAGACTGTAGGTGGGCAAAGAATGAAGGAAACTAGTGGGTTCAGGAGCTCGAGCTAGAAGTGGTGAGAAGGGTTTGGATTTGGGGTCTATGCTGAAGGTAGAGCCGACAAGATTTGCTAGGATTGGATGGGTAGGGTGAGGAAGTGGGGACAGCAAGAATGACTGGAGGGGTAAGTGGACTCTCACCAGCTGTGTCTCGTGAAGGGGCGTGGCTGGGCTATGAGCTATGCTCCTGAGCACAGACGGCTGTTCTCTTTCAAGGTTACAAGCCTGATGAAGGGAAACGAGGGGATGCCTGTGAAGGTGACAGTGGGGGACCCTTTGTCATGAAGGTAAGCTTCTCTAAAGCCCAGGGCCTGGTGAACACATCTTCTGGGGGTGGGGAGAAACTCTAGTATCTAGAAACAGTTGCCTGGCAGGGGAATACTGATGTGACCTTGAACTTGACTCTATTGGAAACCTCATCTTTCTTCTTCAGAGCCCCTTTAACAACCGCTGGTATCAAATGGGCATCGTCTCATGGGGTGAAGGCTGTGACCGGGATGGGAAATATGTCTTCTACACACATGTGTTCCGCCTGAAGAAGTGGATACAGAAGGTCATTGATCAGTTTGGAGAGTAGGGGGCCACTCATATTCTGGGCTCCTGGAACCAATCCCGTGAAAGAATTATTTTTGTGTTTCTAAAACTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGGCAGCTCTCTGGGCTCAGGAAGAGCCAGTAATACTACTGGATAAAGAAGACTTAAGAATCCACCACCTGGTGCACGCTGGTAGTCCGAGCACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCCACTGCACCCCAGCCTGGGTGACAGAGTGAGACCCTGTCCCAAAAGAATCCACTATCTATCTTCAGAGCAGGGCCAGGTGAGAGGAAAGATGGCAGGTTGAATTTACAGGCATTAAAGATGTTCCACCCTCTGGGTTTTAATGGATTATCTCATTTAATCCTCACAAGAGGTAGGTGAGTAAACTGAGATTTGGAGAAGTACCTTGTCCAAAGTCACATGGCTAAGAAAGCTCAAAGTAGGACTTCAAATATAGAAAATATTGAGTGAGGACGGTGCTTTTTTAGTTAACTCCCTACATCTTCCCTTGTATCATTAAAATGATATCAGATCAGGTAGGGCATGGTGGCTCACACCTGTAATCTCAGCAATTTAGGAGACTAAGGTTGAGGCTAGGAATGCGAGATCAGTCTGGGCAATGTGGTGAGACCCCAAAAAATAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTCAAGGTTACTTGGGAGGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCCATGATCATGTCACTACACCTGCACTGCAGCCTGGGTGACAGTGAAACCCTGTTTATAAAAATCAGGGCTGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGATCACAAGGTCAGGAGATTGAGACCATCCTGGTGAACACGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGACAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGACTCTGTCTCAAAAAGAAGAAGAACCAACCATGCATACCAAAATCCACAGATGCTCAAATCTCTTATATAAAATGGCACAGTTTACATATAACCTATGCACATCCTCCCATATACTTCATTTTTAAAATTTATTTTTATCTTTTTGAGTTGGAATTTTGCTCATTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCCGCCTCTTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCCATCGGGGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCACCCTGCCCGGCCTTCCCATATACTTCAAATCATCTCTAGATGACTTACACCCAATAGAACGTAAATACTATGTAAATAGTTATACTGTATTATTTTAAAATTTGTATTATTTTTATTGTTTTCTTTCCCCACAAATATTTTCAATCTGCAGTTGGTTGAATCTGCAGATGCAAAACCCACAGATCTGGAAGGCCACCTGTATATTAAAAGGTGTATATAACGACATTACTTACCTCATACGGTTATGAGGATTAAATGAAAGAACTTACATGGTGCCTTAGCACAATGCCTAGTGCCTAGTAAGCTGTGAATCACTACCACTCGTATTCTCACTATTGCCTGGGAACTGGACCGGGCATTGGGCCTGTTGAAAGTTCCTCTGCCGCTTACCTCGTCCCTCTCTTGGGCCCTGGAAATAGCCCATCAGTGG
|
Task1_train_15764
|
A variant on Chromosome 11 in gene LRP4 (LDL receptor related protein 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Sclerosteosis 2
|
TTTACTGCAATACAGATACTGGTTATATGGCCTACTCATCAGTAAGTCCTAGGGGATTCTTGGAGCTCCCTCAGGGCACAATGGTAGATGTGAAAGTCTCCAGGTCCCCTGACTTTACCTGTTTTTTTTGTTGTTGTTGTTTGTTTTACATACTAGGCTTCCATATAATCTCTAAACAAATGAAAGTTTGAAACTCTGCTGTAAGTGACAACACTACAAAGTGAACAAGTCAGGATTAAAACTCACTATCCAAAGTGCCAAATCACTCATCCATTTAGTGGTCAGAACACAACCTCACCCATGGGCGACCAGAAGCAAATCTGTGTCTTCTGGAGGTTTCAGTGTTGCTCATACCTGATAACATCCAGGAACACATCTGTGTAATAGACCTTTCCATCCACGCTGTCATAGTCCAGGGAGATGACATTGTTGAGCTCAGGAACAGGGACATGCACATCGGTGTGGTCACTGGTGTCCAGTGAGATACGCCGGATGGAGCCACGGCTGGAGAAGAGCAGGTAGGTCTCAGGAGAGGGATCACAGGTCTTCCCATCTCCCTTCAGCTGGATGCCAGTGGGGCAGGCACAGGAGAAGCCAGAAGGCCGAGGCAAGCAGAGGTGGGAGCAGCCGCCATTTCTCGAGCCGCACTTGTTAAAACCTGGTGATGAGAAGCACAAGTATTCACACCTAGCCTGGAACATCATCTGAATCTTACAAAGGTCCCAGTTGTTTGTGGCTGGCTCTTTGCTGTTCTAAGTGACAGGATTCAGTGCCTGGCAGGGTGAGGTAGAAGGAGGGTCTGCAGGAGGATCTCCAGGAGTCCTTTGAAGGTGACAGCTGTAGTACCAGCCATACCCAGAGAGAACACAGCCCAATCTGGAAGGGAGCTTAAACAGGTCACCGTCTTTCTGGCTGTAAAGGAGCTCTGTGCTCTGGATATATCTCTGATGTTGAGATGGCCCCAGAAAGCCAGAGGCTCTGACTCACAGCCCCAGCCCTCTGACTCTCACCTAGTGGCTGTGCCCGGTCCACAGCCTGCATGTCCATGAGGCCTGGCAGGTTGGACCTCACGAGGATGACATTGCTGCCAGTACCCTTGTCAGCACGGTGGATGCTCCGAGTCTGCCAGTCAGTCCAGTAGATATAGGAGTCGAGCAGGGTGAGGCCATATGGGTGCTGCACCGGTGACACCAATGTATGCCGATTGGCACCATTCAGGTCAGCAGCCTCAATTCGCTGCAGAGGAAGGAGAGGGTGGGGGGTGGTGATCAGCAGATTGGGAACTCTCCATGGAGATCCTAGGCAGGCCTTTCCCATCTTCCCAGGCTCCTGGGAAGCAGCAGGGACACGGCTCTCACCTCGGTGTGGGCATCGGCCCATAGCAGTTGGGAGCTGGCCTTGTCCACAGTCAGTCCATTGGGCCATCCTAGGTTGTTGTTGATGAGCACCGCGCGGTCTGAGCCATCCATTCCGGACCGCTCTAACTTGGCATTCTCCCCCCAGTCTGTCCAGTACATAAACCTGAGTGAGGAAGAATATTAGCTATATTAGCTAGTTATTCCAGCAGCTACCACATACCATGAATACTTAACAGTATGTCAGATACACTTGAGTACTTACAGTATGTCAGGCAAAATTTTTGCTTGACAAAGTACTTTGCAAAATACTTCATGTGCATTATCTCAACCTTCATAAGGGCCACAAGGTATGTATTTTCACTACCACCTCCATTTAATAGGTAAGGAAGCTGAGAATTAGAGAGGTTAAATACCGGACCCAAGTGATATAGCTAATACATGATGAAAACATTTCAATCCTGGTATTCTGATTCAAGGCTCATGCTTTTAACTTCTACACTGTACTGTCACCCTGCGAGAAGTCACAAGAGAGTGGAAGAGCCCCAGGGAGGTCACCTTGTTTCTGTGATGCAAGCTTCCTCTCCACTACCCACCTTTACCCCGTCATAACCCCAGCTGAGCTGGCCCCCCACACTACCCAGTGCGATACAGCCAGCTCTCACCCCATCTCATGGTACAGTACGATGGCCCGGGGACTGTCAAGGTTCTGCCACACCAACACTTTCCGCATGGACCCGTCCAGGTTGCCCACTTCAATCCGGTTTGTTCCCGTGTCTGTCCAGTATACTTTCCGGCCAATGGCATCAACCGCGAGCCCATCTGTGGTCTGTAGCCCTGTGGGAAGTCAAAAGAGCACACTGGCTCCTATTTTAAAACAGATGGGCTATTTCCCCAGCCCTGTTGCCAGACAGGTGGTCCCTGGGCTAGGAGGAAGGCCCACCTGTGGTGATGATGTCCTCATGCTGTGAGCCATCCAGATTGGCACGACTGATCCTGTGCAGTGTGCTGTCAGACCAGTACACCTTTCCTGGAGAGGGAAAGCTTGGCTCAACCTAGACCCTCACCGCCTACAATGGGACACACACAGCTGATTCATGTCTTGAAACACCAGAGCATGTCAGAGAGCTCTGGAGCCTCTAGCAGAGGAAATCAAGGAAAACGCAGAAATATCATAGCAGGATAGCTCTTGGCAGAGACGGAGAGAAGAGGGCCCCAAACCATGCTCTCACAACCAAAGAGAGAGTGCTAGAGAGACAGGGACAGGGGCTATGCCAGAGGGAATGGGGAACAAACACCCTGGCTCTTGGCAGGAGACAAAGGTGGTGGGAGAGGAAAGACAGTAATTGTTGAAGGGCAGGGACAGAAGGCCAGGTGGGAAGAGAGGGCCATACAGACCTTCCTGGGGGTCTACTCCAATGGCAATGGTGTTCTTCATGGTAATGTTGATTGGTACCACCACATCAGCAAAATAAGGGATGTCCAGGGAGACCATGCGAATGTCTATCCTCCTGGCGAAGATGAGGAAACTGTTCATGCCTGCCAGGTGGAGAGGAGGGAAGAGGATCACTCGAGCACAGCCATTAAATGGATTTGGAATCAGGCAAACTGAAACTCATGCCCTGTCCCTGCTAGTTTCTAGCTATGTTATTCTAGGCAAGTTATTTAAATTATTATTATTTTTTGAGACAGGGTCTTGCTGTGTCGCCCAGGCTGGAGTGCACTGGCATGATCATGGCTTACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCCCCTGAGTAGCTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTTTGTAGAGATGGGGTTTCGTCATATTGCCCAGGCTGGTCTGAAACTCCTGGGCTCAAGCCTCTGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTACTCTCAGCTTAAATTATTAGGCCTCAGTTTTCTTATCTATAAAATGGGGACAATAATGGGGTGGCTGTAAGGGTTAAAAGATCATGTACATAAAGCACTTACCATTAGGTCTCACACATATTCATAAATAATGCCTCTTTATTAATATTATGAAAGTGGCTCTCTTTGAAGGACCCTTTACCATGAAGATTAAGAAAGAGAAAAAAAGAAAGGGAATAAAGGGACCCCAGGGGGCTTTACTCACAACCTGAGAGGCACAGTTCACAGCTCCTTTCTCACTCAAATTCCCAGGGAGGTTAGAGTTCAAATGCAGCCTACCCTGCAGCATCTCCTAGGGAGAAGCCTTGACTTCCGACATCTGGGTAGCCAGGTACTGCTTCTGGGACCCTCCAATAAGGTTGTCACATAGGTTGTGCACTCACAAAAGTGGCACATCTAAGGAGGAGGGTACTGTGACATTGTAGATATCATACATTTCTGTTTTTATTATACCAATTTTGGGCAGTTAGAAGTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAACCTTCACCTCCCAGGTTCAAGCAATTCTTCTGCCTTAGCCTCCCAAGTAGCTGGGATTACGCGCCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCTAGTGATTTGCCTGCCTTGGCCTCCCAAAGTGCT
|
TTTACTGCAATACAGATACTGGTTATATGGCCTACTCATCAGTAAGTCCTAGGGGATTCTTGGAGCTCCCTCAGGGCACAATGGTAGATGTGAAAGTCTCCAGGTCCCCTGACTTTACCTGTTTTTTTTGTTGTTGTTGTTTGTTTTACATACTAGGCTTCCATATAATCTCTAAACAAATGAAAGTTTGAAACTCTGCTGTAAGTGACAACACTACAAAGTGAACAAGTCAGGATTAAAACTCACTATCCAAAGTGCCAAATCACTCATCCATTTAGTGGTCAGAACACAACCTCACCCATGGGCGACCAGAAGCAAATCTGTGTCTTCTGGAGGTTTCAGTGTTGCTCATACCTGATAACATCCAGGAACACATCTGTGTAATAGACCTTTCCATCCACGCTGTCATAGTCCAGGGAGATGACATTGTTGAGCTCAGGAACAGGGACATGCACATCGGTGTGGTCACTGGTGTCCAGTGAGATACGCCGGATGGAGCCACGGCTGGAGAAGAGCAGGTAGGTCTCAGGAGAGGGATCACAGGTCTTCCCATCTCCCTTCAGCTGGATGCCAGTGGGGCAGGCACAGGAGAAGCCAGAAGGCCGAGGCAAGCAGAGGTGGGAGCAGCCGCCATTTCTCGAGCCGCACTTGTTAAAACCTGGTGATGAGAAGCACAAGTATTCACACCTAGCCTGGAACATCATCTGAATCTTACAAAGGTCCCAGTTGTTTGTGGCTGGCTCTTTGCTGTTCTAAGTGACAGGATTCAGTGCCTGGCAGGGTGAGGTAGAAGGAGGGTCTGCAGGAGGATCTCCAGGAGTCCTTTGAAGGTGACAGCTGTAGTACCAGCCATACCCAGAGAGAACACAGCCCAATCTGGAAGGGAGCTTAAACAGGTCACCGTCTTTCTGGCTGTAAAGGAGCTCTGTGCTCTGGATATATCTCTGATGTTGAGATGGCCCCAGAAAGCCAGAGGCTCTGACTCACAGCCCCAGCCCTCTGACTCTCACCTAGTGGCTGTGCCCGGTCCACAGCCTGCATGTCCATGAGGCCTGGCAGGTTGGACCTCACGAGGATGACATTGCTGCCAGTACCCTTGTCAGCACGGTGGATGCTCCGAGTCTGCCAGTCAGTCCAGTAGATATAGGAGTCGAGCAGGGTGAGGCCATATGGGTGCTGCACCGGTGACACCAATGTATGCCGATTGGCACCATTCAGGTCAGCAGCCTCAATTCGCTGCAGAGGAAGGAGAGGGTGGGGGGTGGTGATCAGCAGATTGGGAACTCTCCATGGAGATCCTAGGCAGGCCTTTCCCATCTTCCCAGGCTCCTGGGAAGCAGCAGGGACACGGCTCTCACCTCGGTGTGGGCATCGGCCCATAGCAGTTGGGAGCTGGCCTTGTCCACAGTCAGTCCATTGGGCCATCCTAGGTTGTTGTTGATGAGCACCGCGCGGTCTGAGCCATCCATTCCGGACCGCTCTAACTTGGCATTCTCCCCCCAGTCTGTCCAGTACATAAACCTGAGTGAGGAAGAATATTAGCTATATTAGCTAGTTATTCCAGCAGCTACCACATACCATGAATACTTAACAGTATGTCAGATACACTTGAGTACTTACAGTATGTCAGGCAAAATTTTTGCTTGACAAAGTACTTTGCAAAATACTTCATGTGCATTATCTCAACCTTCATAAGGGCCACAAGGTATGTATTTTCACTACCACCTCCATTTAATAGGTAAGGAAGCTGAGAATTAGAGAGGTTAAATACCGGACCCAAGTGATATAGCTAATACATGATGAAAACATTTCAATCCTGGTATTCTGATTCAAGGCTCATGCTTTTAACTTCTACACTGTACTGTCACCCTGCGAGAAGTCACAAGAGAGTGGAAGAGCCCCAGGGAGGTCACCTTGTTTCTGTGATGCAAGCTTCCTCTCCACTACCCACCTTTACCCCGTCATAACCCCAGCTGAGCTGGCCCCCCACACTACCCAGTGCGATACAGCCAGCTCTCACCCCATCTCATGGTACAGTACGATGGCCCAGGGACTGTCAAGGTTCTGCCACACCAACACTTTCCGCATGGACCCGTCCAGGTTGCCCACTTCAATCCGGTTTGTTCCCGTGTCTGTCCAGTATACTTTCCGGCCAATGGCATCAACCGCGAGCCCATCTGTGGTCTGTAGCCCTGTGGGAAGTCAAAAGAGCACACTGGCTCCTATTTTAAAACAGATGGGCTATTTCCCCAGCCCTGTTGCCAGACAGGTGGTCCCTGGGCTAGGAGGAAGGCCCACCTGTGGTGATGATGTCCTCATGCTGTGAGCCATCCAGATTGGCACGACTGATCCTGTGCAGTGTGCTGTCAGACCAGTACACCTTTCCTGGAGAGGGAAAGCTTGGCTCAACCTAGACCCTCACCGCCTACAATGGGACACACACAGCTGATTCATGTCTTGAAACACCAGAGCATGTCAGAGAGCTCTGGAGCCTCTAGCAGAGGAAATCAAGGAAAACGCAGAAATATCATAGCAGGATAGCTCTTGGCAGAGACGGAGAGAAGAGGGCCCCAAACCATGCTCTCACAACCAAAGAGAGAGTGCTAGAGAGACAGGGACAGGGGCTATGCCAGAGGGAATGGGGAACAAACACCCTGGCTCTTGGCAGGAGACAAAGGTGGTGGGAGAGGAAAGACAGTAATTGTTGAAGGGCAGGGACAGAAGGCCAGGTGGGAAGAGAGGGCCATACAGACCTTCCTGGGGGTCTACTCCAATGGCAATGGTGTTCTTCATGGTAATGTTGATTGGTACCACCACATCAGCAAAATAAGGGATGTCCAGGGAGACCATGCGAATGTCTATCCTCCTGGCGAAGATGAGGAAACTGTTCATGCCTGCCAGGTGGAGAGGAGGGAAGAGGATCACTCGAGCACAGCCATTAAATGGATTTGGAATCAGGCAAACTGAAACTCATGCCCTGTCCCTGCTAGTTTCTAGCTATGTTATTCTAGGCAAGTTATTTAAATTATTATTATTTTTTGAGACAGGGTCTTGCTGTGTCGCCCAGGCTGGAGTGCACTGGCATGATCATGGCTTACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCCCCTGAGTAGCTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTTTGTAGAGATGGGGTTTCGTCATATTGCCCAGGCTGGTCTGAAACTCCTGGGCTCAAGCCTCTGCCCACCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTACTCTCAGCTTAAATTATTAGGCCTCAGTTTTCTTATCTATAAAATGGGGACAATAATGGGGTGGCTGTAAGGGTTAAAAGATCATGTACATAAAGCACTTACCATTAGGTCTCACACATATTCATAAATAATGCCTCTTTATTAATATTATGAAAGTGGCTCTCTTTGAAGGACCCTTTACCATGAAGATTAAGAAAGAGAAAAAAAGAAAGGGAATAAAGGGACCCCAGGGGGCTTTACTCACAACCTGAGAGGCACAGTTCACAGCTCCTTTCTCACTCAAATTCCCAGGGAGGTTAGAGTTCAAATGCAGCCTACCCTGCAGCATCTCCTAGGGAGAAGCCTTGACTTCCGACATCTGGGTAGCCAGGTACTGCTTCTGGGACCCTCCAATAAGGTTGTCACATAGGTTGTGCACTCACAAAAGTGGCACATCTAAGGAGGAGGGTACTGTGACATTGTAGATATCATACATTTCTGTTTTTATTATACCAATTTTGGGCAGTTAGAAGTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAACCTTCACCTCCCAGGTTCAAGCAATTCTTCTGCCTTAGCCTCCCAAGTAGCTGGGATTACGCGCCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCTAGTGATTTGCCTGCCTTGGCCTCCCAAAGTGCT
|
Task1_train_15765
|
Consider this mutation in LRP4 (LDL receptor related protein 4) on Chromosome 11. Is this a benign change or a disease-causing variant?
|
Pathogenic; Cenani-Lenz syndactyly syndrome
|
GTCTCACAGAATTGACAATATAATGTAATATTAGGACAGGCACTTTCTTCTTTGTCACAATCTCTTCCACTGCCTTTTGTATTTTATTTTCTTTTATTTTTGAGACTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACGATTTCAGCTCACTGCAACCTCCACCTCCTGGACCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAAGCTTGAGTCACCATGCCCGGCTCCTTTTGTATTTTATACACACACACACACACACACACACACACACACACACAGACACACACACATACACACACACAGTTTCTAAAACAGTTGATACATACTGTAGGACCTTATAAGATACTCCCTCCATTGATTGCATAGAATTTTTAAAAGCCAGAGGTGAGAACTTCATTTCAGGAGTTTTTCTTTAATTCAGATTTCTGAATTTTAAATTTAATTTTTTTTGAGACAGAGTCTCACTCTGTCATCCAGGAGTGCAGTGCCATAATCATGGCTCACTGCAGCCTCGAACTCCAGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGTGTAGTTGGGACTACAGGCATGCATCAATAAGTCCAGCTAATTTTTGTACTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGAGATTATAGGCATGAGCCACTGAACCTGACCAGATTTCTCAATTTTATTTATTTAACTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGGTCACTGTTGCAATCACGGTTCCCTGCAACCTCGACCTCCCAGTCTCAAGCCATCCTTGCACCTCAGCCTCCCACGTAGCTGGGACTACAGGCATGTGCCACTATGCCAGGCTAATTTAGAAAACATTTTTGTAGAGATGAGGCCACACTATGTTGCCCAGGCTGATCTTGAACTCCTGGACTCAAGTGATCCTCCTTCCTTGGTCTCCAAAAGTGCTGGAATTATAGGTGTGAGCCACTGTGCCCGGCCCCTCTATTAATTTTTAGGCTATAATAATTAATTACAATTCTTATGAATTACTAATAACTATTAATTTGTATTAATTAGGTCAACCTTATGAGCTAATAATAAAAATACGAAACACCTACAACTTATCTAATGTGTGTTATATGCAATTTAAAATGCATCACCTCATTTAATCTTCATACAACTATGATGGAGGTATTTTTTTTTAATCACCAATTTAGAAATGAGTAAACAAGGCAGACAGAGATTAACTGGCCCAAGGCCACACAGCCAGTTATTACAGAGCCAGGACCTAGACTCAAGTGTGTGGGGGACAGAGCCCATGTTATTAACATCATACTTTTTTTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTTTCTCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAACCTGTGCCTCCTGGGTTCAAACAACTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAAGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTGCCACAGCAACACTTTCCGGTGGGCCCCATCCAGATTGGCCACCTCAATCCTCGAGGTGCCTGAGTCGGTCCAGTAGAGTTTGTCATGGACCCAATCCACAGCCAGGCCCCCTGGTGAGAAGCAGCAGCAAAAAATGTCAAGGAGTCAACCCAGGCCCCCATGTCCCATAGTAATAGGAGCAAACTCTTACAGGAAGCAATTTTTTGGGCCAGGCACTATTGTCATCACTTCAGATACATGAATTCATTTAAGCATCACAACTCTGTGAGCTAGATACTGTAATTTCCATGAGGATGAGGAAATTGAGGCACAAAAGAGTTAAGTAACTGTCCAAGGGCATGCACTTCCTCCTCACAGTCAACCATACATCACTTTCTGAATTCTGTCTCCCTGACGCATTCCCAGGGTCCCCCACTGCACTGACCCAGGGGTTTGTAAATTGTCATCTGGGGTTTTGCAGAGGCATTTCAGAAATTCCCTAGGCATTTGAGTCCAATGTGCTTGATACCAAATTAGAATTTGACCACTTCACCTATTTGTAAAATAGCCTGAGATTGACAAGTGAGCTGTTTCTGTGGTTTTTTGTTTGTTTGTTTCGAGATGGAGTCTCACTCCCATTGCGCAGGCTGGAGTGCAGTGGTGCAGTCTCGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGAGTTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATTTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCACGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCTTGAACTATTTTTTTTTTTTTTTTGAGACGGAGTTTTGCCTAGGCTGAAGTACAATGGCGTGATCTCGGCTCACCGCAACCTCCACTTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGTTTTTTTAACAATCTATAAAACATTTTGATATACTTATCCAGGTCAATCAGAATATTCTTAATACTAAGCAATCGAAACAAAACTCAGAAATAAACTAGATGCAAAGGCTGATGGAGAACTCTGTCATCCATAAATCTGATTCCCATGATCACAACCACCAACGTGGTCTCATTATTCTCACTGATTGAGCTCAATCATGAGCAAATGTTATATTTGAACCTATAAAATTGATATACATTAACAAATGTTTTCTATATTAGGGCTCCAACTAAGATTTCCCTGGAAGAAAAAGATGTCCTGCTGCCTAAGGTTTGCAAACCACTGGCCTATTCCTCCCACCGTTGCTGCGCATGTGGCATGGCTCTGCCCCTCTCCATGGGGCCTTGTTCCCTACCTGGGCTCTCCAGCCCAGTAGACACAACCTCCTCCACGTTGCTGCCGTTGAGGTTGGCACGGAGGATCCGGTCCAGGGTGACATCTGACCAGAAGACAAGCTCGCGGCGGTGGTGGAAATCAAGGGCAATGGCATTCTCCAGGTTGTTAAGCAGCAGTGTGTACTCAGAGCGGTGTGGCAGCACCTGCCGGATGTCGATGCGATTGGCGAACAGCAGCACAGGCTCTGGCCCTGGGAAACAGTATAAACATGGGATACCCACTGGGTTTCAGAGCCGCCCCTGGTACCCATCAGCAGGTCTTCAGCTGACCGATGGAGCCACTTGCTCACAAGGACATGCCCCAAGCTGTCAGCATCAGTACCAGAAGAGTGGCAACCTTTAAACTATATTCCTCCACCCCTCCCCACCCCACTCCACCCCAGCAGCATTTTTCTTGGGGCTCAGAATGCAACTGTTGCTGCATTTTACTGTGACAGAAATCTCTCTACCTCTCTGCAAATCCCTGAGCACCAGAGTACCTGGCCTTCCTCCATGCTCGGCCCT
|
GTCTCACAGAATTGACAATATAATGTAATATTAGGACAGGCACTTTCTTCTTTGTCACAATCTCTTCCACTGCCTTTTGTATTTTATTTTCTTTTATTTTTGAGACTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACGATTTCAGCTCACTGCAACCTCCACCTCCTGGACCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCCCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAAGCTTGAGTCACCATGCCCGGCTCCTTTTGTATTTTATACACACACACACACACACACACACACACACACACACAGACACACACACATACACACACACAGTTTCTAAAACAGTTGATACATACTGTAGGACCTTATAAGATACTCCCTCCATTGATTGCATAGAATTTTTAAAAGCCAGAGGTGAGAACTTCATTTCAGGAGTTTTTCTTTAATTCAGATTTCTGAATTTTAAATTTAATTTTTTTTGAGACAGAGTCTCACTCTGTCATCCAGGAGTGCAGTGCCATAATCATGGCTCACTGCAGCCTCGAACTCCAGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGTGTAGTTGGGACTACAGGCATGCATCAATAAGTCCAGCTAATTTTTGTACTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGAGATTATAGGCATGAGCCACTGAACCTGACCAGATTTCTCAATTTTATTTATTTAACTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGGTCACTGTTGCAATCACGGTTCCCTGCAACCTCGACCTCCCAGTCTCAAGCCATCCTTGCACCTCAGCCTCCCACGTAGCTGGGACTACAGGCATGTGCCACTATGCCAGGCTAATTTAGAAAACATTTTTGTAGAGATGAGGCCACACTATGTTGCCCAGGCTGATCTTGAACTCCTGGACTCAAGTGATCCTCCTTCCTTGGTCTCCAAAAGTGCTGGAATTATAGGTGTGAGCCACTGTGCCCGGCCCCTCTATTAATTTTTAGGCTATAATAATTAATTACAATTCTTATGAATTACTAATAACTATTAATTTGTATTAATTAGGTCAACCTTATGAGCTAATAATAAAAATACGAAACACCTACAACTTATCTAATGTGTGTTATATGCAATTTAAAATGCATCACCTCATTTAATCTTCATACAACTATGATGGAGGTATTTTTTTTTAATCACCAATTTAGAAATGAGTAAACAAGGCAGACAGAGATTAACTGGCCCAAGGCCACACAGCCAGTTATTACAGAGCCAGGACCTAGACTCAAGTGTGTGGGGGACAGAGCCCATGTTATTAACATCATACTTTTTTTTTTTTTTTTTTTCGAGACAGAGTCTTGCTCTTTCTCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAACCTGTGCCTCCTGGGTTCAAACAACTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAAGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTGCCACAGCAACACTTTCCGGTGGGCCCCATCCAGATTGGCCACCTCAATCCTCGAGGTGCCTGAGTTGGTCCAGTAGAGTTTGTCATGGACCCAATCCACAGCCAGGCCCCCTGGTGAGAAGCAGCAGCAAAAAATGTCAAGGAGTCAACCCAGGCCCCCATGTCCCATAGTAATAGGAGCAAACTCTTACAGGAAGCAATTTTTTGGGCCAGGCACTATTGTCATCACTTCAGATACATGAATTCATTTAAGCATCACAACTCTGTGAGCTAGATACTGTAATTTCCATGAGGATGAGGAAATTGAGGCACAAAAGAGTTAAGTAACTGTCCAAGGGCATGCACTTCCTCCTCACAGTCAACCATACATCACTTTCTGAATTCTGTCTCCCTGACGCATTCCCAGGGTCCCCCACTGCACTGACCCAGGGGTTTGTAAATTGTCATCTGGGGTTTTGCAGAGGCATTTCAGAAATTCCCTAGGCATTTGAGTCCAATGTGCTTGATACCAAATTAGAATTTGACCACTTCACCTATTTGTAAAATAGCCTGAGATTGACAAGTGAGCTGTTTCTGTGGTTTTTTGTTTGTTTGTTTCGAGATGGAGTCTCACTCCCATTGCGCAGGCTGGAGTGCAGTGGTGCAGTCTCGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGAGTTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATTTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCACGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCTTGAACTATTTTTTTTTTTTTTTTGAGACGGAGTTTTGCCTAGGCTGAAGTACAATGGCGTGATCTCGGCTCACCGCAACCTCCACTTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGTTTTTTTAACAATCTATAAAACATTTTGATATACTTATCCAGGTCAATCAGAATATTCTTAATACTAAGCAATCGAAACAAAACTCAGAAATAAACTAGATGCAAAGGCTGATGGAGAACTCTGTCATCCATAAATCTGATTCCCATGATCACAACCACCAACGTGGTCTCATTATTCTCACTGATTGAGCTCAATCATGAGCAAATGTTATATTTGAACCTATAAAATTGATATACATTAACAAATGTTTTCTATATTAGGGCTCCAACTAAGATTTCCCTGGAAGAAAAAGATGTCCTGCTGCCTAAGGTTTGCAAACCACTGGCCTATTCCTCCCACCGTTGCTGCGCATGTGGCATGGCTCTGCCCCTCTCCATGGGGCCTTGTTCCCTACCTGGGCTCTCCAGCCCAGTAGACACAACCTCCTCCACGTTGCTGCCGTTGAGGTTGGCACGGAGGATCCGGTCCAGGGTGACATCTGACCAGAAGACAAGCTCGCGGCGGTGGTGGAAATCAAGGGCAATGGCATTCTCCAGGTTGTTAAGCAGCAGTGTGTACTCAGAGCGGTGTGGCAGCACCTGCCGGATGTCGATGCGATTGGCGAACAGCAGCACAGGCTCTGGCCCTGGGAAACAGTATAAACATGGGATACCCACTGGGTTTCAGAGCCGCCCCTGGTACCCATCAGCAGGTCTTCAGCTGACCGATGGAGCCACTTGCTCACAAGGACATGCCCCAAGCTGTCAGCATCAGTACCAGAAGAGTGGCAACCTTTAAACTATATTCCTCCACCCCTCCCCACCCCACTCCACCCCAGCAGCATTTTTCTTGGGGCTCAGAATGCAACTGTTGCTGCATTTTACTGTGACAGAAATCTCTCTACCTCTCTGCAAATCCCTGAGCACCAGAGTACCTGGCCTTCCTCCATGCTCGGCCCT
|
Task1_train_15766
|
This variant affects gene LRP4 (LDL receptor related protein 4) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Cenani-Lenz syndactyly syndrome
|
TAGCTGGGATTACAAGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTGCCACAGCAACACTTTCCGGTGGGCCCCATCCAGATTGGCCACCTCAATCCTCGAGGTGCCTGAGTCGGTCCAGTAGAGTTTGTCATGGACCCAATCCACAGCCAGGCCCCCTGGTGAGAAGCAGCAGCAAAAAATGTCAAGGAGTCAACCCAGGCCCCCATGTCCCATAGTAATAGGAGCAAACTCTTACAGGAAGCAATTTTTTGGGCCAGGCACTATTGTCATCACTTCAGATACATGAATTCATTTAAGCATCACAACTCTGTGAGCTAGATACTGTAATTTCCATGAGGATGAGGAAATTGAGGCACAAAAGAGTTAAGTAACTGTCCAAGGGCATGCACTTCCTCCTCACAGTCAACCATACATCACTTTCTGAATTCTGTCTCCCTGACGCATTCCCAGGGTCCCCCACTGCACTGACCCAGGGGTTTGTAAATTGTCATCTGGGGTTTTGCAGAGGCATTTCAGAAATTCCCTAGGCATTTGAGTCCAATGTGCTTGATACCAAATTAGAATTTGACCACTTCACCTATTTGTAAAATAGCCTGAGATTGACAAGTGAGCTGTTTCTGTGGTTTTTTGTTTGTTTGTTTCGAGATGGAGTCTCACTCCCATTGCGCAGGCTGGAGTGCAGTGGTGCAGTCTCGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGAGTTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATTTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCACGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCTTGAACTATTTTTTTTTTTTTTTTGAGACGGAGTTTTGCCTAGGCTGAAGTACAATGGCGTGATCTCGGCTCACCGCAACCTCCACTTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGTTTTTTTAACAATCTATAAAACATTTTGATATACTTATCCAGGTCAATCAGAATATTCTTAATACTAAGCAATCGAAACAAAACTCAGAAATAAACTAGATGCAAAGGCTGATGGAGAACTCTGTCATCCATAAATCTGATTCCCATGATCACAACCACCAACGTGGTCTCATTATTCTCACTGATTGAGCTCAATCATGAGCAAATGTTATATTTGAACCTATAAAATTGATATACATTAACAAATGTTTTCTATATTAGGGCTCCAACTAAGATTTCCCTGGAAGAAAAAGATGTCCTGCTGCCTAAGGTTTGCAAACCACTGGCCTATTCCTCCCACCGTTGCTGCGCATGTGGCATGGCTCTGCCCCTCTCCATGGGGCCTTGTTCCCTACCTGGGCTCTCCAGCCCAGTAGACACAACCTCCTCCACGTTGCTGCCGTTGAGGTTGGCACGGAGGATCCGGTCCAGGGTGACATCTGACCAGAAGACAAGCTCGCGGCGGTGGTGGAAATCAAGGGCAATGGCATTCTCCAGGTTGTTAAGCAGCAGTGTGTACTCAGAGCGGTGTGGCAGCACCTGCCGGATGTCGATGCGATTGGCGAACAGCAGCACAGGCTCTGGCCCTGGGAAACAGTATAAACATGGGATACCCACTGGGTTTCAGAGCCGCCCCTGGTACCCATCAGCAGGTCTTCAGCTGACCGATGGAGCCACTTGCTCACAAGGACATGCCCCAAGCTGTCAGCATCAGTACCAGAAGAGTGGCAACCTTTAAACTATATTCCTCCACCCCTCCCCACCCCACTCCACCCCAGCAGCATTTTTCTTGGGGCTCAGAATGCAACTGTTGCTGCATTTTACTGTGACAGAAATCTCTCTACCTCTCTGCAAATCCCTGAGCACCAGAGTACCTGGCCTTCCTCCATGCTCGGCCCTCTGCCCACCCAGCCAAGTGCCAACAGCCCTTACCCAGAGCCTTGCAGCTGCGCCGGTCGGGCCGTAGTTCATAGCCTGTTTCACACCAGCATTGGAAAGCCCCTTCGCTGTTGGTGCAGCCCTGGCTGCAATACCCCTCCTCGGCACATTCATTCACATCTGGGAACACCAGGCAGGTCAAGAGATCTCCCTTCTGTCGTCCTCCCACTCCCGCTCCCAGGCTGCCGAGCTGCTTTTCTGCCCACATCCCCATCTACTTTCCAGGCCTAGTGGGAAGGCTGTCTAAGAAATGGTTAAGGGCGGCCGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGGCTCCATCTCAAAAAAATAAAAATAAAAAATAAAAAAGAAGAAATGGTTAAGGGCTTTAAGGTCATGCAGACCTGGGCTGGAATCCCAACTCTGCTACTCGCCAGCTGTGTGGCCTTTGGTAAGCTACTTATCCTCTCTGTGCTTCAGTCTCCCCATCTGTGAAATGGGAAGGATGATCCCCACCTCCTAGGGTTATTGTGAGGACGAAATGAGGTCACACCGTTCAAATGCCTGACCCATAGGAAACACAGCTGCCTGTCTGCTGCCCCTGCTCAGAACCCCGACTCTGCTGCAAACCAGGCCCCAGCTCACCTTGGCACGTGTGCCCATCCTCTGTGAGCCGGTAGCCTGTGTGGCAGGTACACTGCACTGCCCCCCGCACCATCTGGCACTTCTGGGCACAGCCACCGTTGTTAACATTGCAGTTCTCCTCACCCGTCCGGGGCCCTGTGCCAGCCAAGCCAGAGTTGGGAGTTGAGCCCAGAATCCTCCCCCAGAGAGCCAACTTGGCATTCCACCTGGACCACAAAGAACAGCTCCCAAAGCTGCAAGAGTCCTGAGGGAGGATTCCCTTTGAACCCTATGGGTGGGGTTCGGCCACAAACCATGGGCCAGGTCCGCCCACTGGGGACACTCACGGCAATTCTGCTGTGGGCTTTCGTCGCTGTTGTCACCACAGTCGTTGACCCCGTTGCACAGCTTCCTCTGCCCAATGCAGCGCCCATTCCAACACAGGAACTGGTCCAAGGCACATTGGGGGCTTCCTAGAGAGATGGAGGGTCAGGTCATAGCAAGGCAGGGCTTGGGCCAACAAAGAGATGGGAGCCTGTCATTTTCTAGGGTAAGCTGGAGACAGATGAGACTCAAGGTGGGAGGGTGAGGGTCCTGGGCAGGAAGCAGCTCAGACAGGGCTGGCTGAATGTCTGCATTTGCTTTCTCCCCAGGACTCCACAGTGGGATGGTGAGGAATATGGAACAGAATGAAAAAGTGCAACCACATGCTCAATACTGGGTGTGGCCAGGGGAGCACACATGGGGGCTGCCAGATGGAGGGTAGTCCTTCCTCACTAGACCAGAGCTAAAGGCACTGGCTGTGTGTGAGTTAGAATAGGAGTGGCAATTGAAACTCGCAGCTCTGATACTGTGCTCCAGGCCATAAGGCCGCAGGTCAATGATGCACCTGGATTTTACACTGGTAAAACCTCAACCCAACTGGAAAGATAC
|
TAGCTGGGATTACAAGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTGCCACAGCAACACTTTCCGGTGGGCCCCATCCAGATTGGCCACCTCAATCCTCGAGGTGCCTGAGTCGGTCCAGTAGAGTTTGTCATGGACCCAATCCACAGCCAGGCCCCCTGGTGAGAAGCAGCAGCAAAAAATGTCAAGGAGTCAACCCAGGCCCCCATGTCCCATAGTAATAGGAGCAAACTCTTACAGGAAGCAATTTTTTGGGCCAGGCACTATTGTCATCACTTCAGATACATGAATTCATTTAAGCATCACAACTCTGTGAGCTAGATACTGTAATTTCCATGAGGATGAGGAAATTGAGGCACAAAAGAGTTAAGTAACTGTCCAAGGGCATGCACTTCCTCCTCACAGTCAACCATACATCACTTTCTGAATTCTGTCTCCCTGACGCATTCCCAGGGTCCCCCACTGCACTGACCCAGGGGTTTGTAAATTGTCATCTGGGGTTTTGCAGAGGCATTTCAGAAATTCCCTAGGCATTTGAGTCCAATGTGCTTGATACCAAATTAGAATTTGACCACTTCACCTATTTGTAAAATAGCCTGAGATTGACAAGTGAGCTGTTTCTGTGGTTTTTTGTTTGTTTGTTTCGAGATGGAGTCTCACTCCCATTGCGCAGGCTGGAGTGCAGTGGTGCAGTCTCGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGAGTTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATTTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCACGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCTTGAACTATTTTTTTTTTTTTTTTGAGACGGAGTTTTGCCTAGGCTGAAGTACAATGGCGTGATCTCGGCTCACCGCAACCTCCACTTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGTTTTTTTAACAATCTATAAAACATTTTGATATACTTATCCAGGTCAATCAGAATATTCTTAATACTAAGCAATCGAAACAAAACTCAGAAATAAACTAGATGCAAAGGCTGATGGAGAACTCTGTCATCCATAAATCTGATTCCCATGATCACAACCACCAACGTGGTCTCATTATTCTCACTGATTGAGCTCAATCATGAGCAAATGTTATATTTGAACCTATAAAATTGATATACATTAACAAATGTTTTCTATATTAGGGCTCCAACTAAGATTTCCCTGGAAGAAAAAGATGTCCTGCTGCCTAAGGTTTGCAAACCACTGGCCTATTCCTCCCACCGTTGCTGCGCATGTGGCATGGCTCTGCCCCTCTCCATGGGGCCTTGTTCCCTACCTGGGCTCTCCAGCCCAGTAGACACAACCTCCTCCACGTTGCTGCCGTTGAGGTTGGCACGGAGGATCCGGTCCAGGGTGACATCTGACCAGAAGACAAGCTCGCGGCGGTGGTGGAAATCAAGGGCAATGGCATTCTCCAGGTTGTTAAGCAGCAGTGGGTACTCAGAGCGGTGTGGCAGCACCTGCCGGATGTCGATGCGATTGGCGAACAGCAGCACAGGCTCTGGCCCTGGGAAACAGTATAAACATGGGATACCCACTGGGTTTCAGAGCCGCCCCTGGTACCCATCAGCAGGTCTTCAGCTGACCGATGGAGCCACTTGCTCACAAGGACATGCCCCAAGCTGTCAGCATCAGTACCAGAAGAGTGGCAACCTTTAAACTATATTCCTCCACCCCTCCCCACCCCACTCCACCCCAGCAGCATTTTTCTTGGGGCTCAGAATGCAACTGTTGCTGCATTTTACTGTGACAGAAATCTCTCTACCTCTCTGCAAATCCCTGAGCACCAGAGTACCTGGCCTTCCTCCATGCTCGGCCCTCTGCCCACCCAGCCAAGTGCCAACAGCCCTTACCCAGAGCCTTGCAGCTGCGCCGGTCGGGCCGTAGTTCATAGCCTGTTTCACACCAGCATTGGAAAGCCCCTTCGCTGTTGGTGCAGCCCTGGCTGCAATACCCCTCCTCGGCACATTCATTCACATCTGGGAACACCAGGCAGGTCAAGAGATCTCCCTTCTGTCGTCCTCCCACTCCCGCTCCCAGGCTGCCGAGCTGCTTTTCTGCCCACATCCCCATCTACTTTCCAGGCCTAGTGGGAAGGCTGTCTAAGAAATGGTTAAGGGCGGCCGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGGCTCCATCTCAAAAAAATAAAAATAAAAAATAAAAAAGAAGAAATGGTTAAGGGCTTTAAGGTCATGCAGACCTGGGCTGGAATCCCAACTCTGCTACTCGCCAGCTGTGTGGCCTTTGGTAAGCTACTTATCCTCTCTGTGCTTCAGTCTCCCCATCTGTGAAATGGGAAGGATGATCCCCACCTCCTAGGGTTATTGTGAGGACGAAATGAGGTCACACCGTTCAAATGCCTGACCCATAGGAAACACAGCTGCCTGTCTGCTGCCCCTGCTCAGAACCCCGACTCTGCTGCAAACCAGGCCCCAGCTCACCTTGGCACGTGTGCCCATCCTCTGTGAGCCGGTAGCCTGTGTGGCAGGTACACTGCACTGCCCCCCGCACCATCTGGCACTTCTGGGCACAGCCACCGTTGTTAACATTGCAGTTCTCCTCACCCGTCCGGGGCCCTGTGCCAGCCAAGCCAGAGTTGGGAGTTGAGCCCAGAATCCTCCCCCAGAGAGCCAACTTGGCATTCCACCTGGACCACAAAGAACAGCTCCCAAAGCTGCAAGAGTCCTGAGGGAGGATTCCCTTTGAACCCTATGGGTGGGGTTCGGCCACAAACCATGGGCCAGGTCCGCCCACTGGGGACACTCACGGCAATTCTGCTGTGGGCTTTCGTCGCTGTTGTCACCACAGTCGTTGACCCCGTTGCACAGCTTCCTCTGCCCAATGCAGCGCCCATTCCAACACAGGAACTGGTCCAAGGCACATTGGGGGCTTCCTAGAGAGATGGAGGGTCAGGTCATAGCAAGGCAGGGCTTGGGCCAACAAAGAGATGGGAGCCTGTCATTTTCTAGGGTAAGCTGGAGACAGATGAGACTCAAGGTGGGAGGGTGAGGGTCCTGGGCAGGAAGCAGCTCAGACAGGGCTGGCTGAATGTCTGCATTTGCTTTCTCCCCAGGACTCCACAGTGGGATGGTGAGGAATATGGAACAGAATGAAAAAGTGCAACCACATGCTCAATACTGGGTGTGGCCAGGGGAGCACACATGGGGGCTGCCAGATGGAGGGTAGTCCTTCCTCACTAGACCAGAGCTAAAGGCACTGGCTGTGTGTGAGTTAGAATAGGAGTGGCAATTGAAACTCGCAGCTCTGATACTGTGCTCCAGGCCATAAGGCCGCAGGTCAATGATGCACCTGGATTTTACACTGGTAAAACCTCAACCCAACTGGAAAGATAC
|
Task1_train_15767
|
A mutation in LRP4 (LDL receptor related protein 4), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Cenani-Lenz syndactyly syndrome
|
TAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTGCCACAGCAACACTTTCCGGTGGGCCCCATCCAGATTGGCCACCTCAATCCTCGAGGTGCCTGAGTCGGTCCAGTAGAGTTTGTCATGGACCCAATCCACAGCCAGGCCCCCTGGTGAGAAGCAGCAGCAAAAAATGTCAAGGAGTCAACCCAGGCCCCCATGTCCCATAGTAATAGGAGCAAACTCTTACAGGAAGCAATTTTTTGGGCCAGGCACTATTGTCATCACTTCAGATACATGAATTCATTTAAGCATCACAACTCTGTGAGCTAGATACTGTAATTTCCATGAGGATGAGGAAATTGAGGCACAAAAGAGTTAAGTAACTGTCCAAGGGCATGCACTTCCTCCTCACAGTCAACCATACATCACTTTCTGAATTCTGTCTCCCTGACGCATTCCCAGGGTCCCCCACTGCACTGACCCAGGGGTTTGTAAATTGTCATCTGGGGTTTTGCAGAGGCATTTCAGAAATTCCCTAGGCATTTGAGTCCAATGTGCTTGATACCAAATTAGAATTTGACCACTTCACCTATTTGTAAAATAGCCTGAGATTGACAAGTGAGCTGTTTCTGTGGTTTTTTGTTTGTTTGTTTCGAGATGGAGTCTCACTCCCATTGCGCAGGCTGGAGTGCAGTGGTGCAGTCTCGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGAGTTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATTTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCACGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCTTGAACTATTTTTTTTTTTTTTTTGAGACGGAGTTTTGCCTAGGCTGAAGTACAATGGCGTGATCTCGGCTCACCGCAACCTCCACTTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGTTTTTTTAACAATCTATAAAACATTTTGATATACTTATCCAGGTCAATCAGAATATTCTTAATACTAAGCAATCGAAACAAAACTCAGAAATAAACTAGATGCAAAGGCTGATGGAGAACTCTGTCATCCATAAATCTGATTCCCATGATCACAACCACCAACGTGGTCTCATTATTCTCACTGATTGAGCTCAATCATGAGCAAATGTTATATTTGAACCTATAAAATTGATATACATTAACAAATGTTTTCTATATTAGGGCTCCAACTAAGATTTCCCTGGAAGAAAAAGATGTCCTGCTGCCTAAGGTTTGCAAACCACTGGCCTATTCCTCCCACCGTTGCTGCGCATGTGGCATGGCTCTGCCCCTCTCCATGGGGCCTTGTTCCCTACCTGGGCTCTCCAGCCCAGTAGACACAACCTCCTCCACGTTGCTGCCGTTGAGGTTGGCACGGAGGATCCGGTCCAGGGTGACATCTGACCAGAAGACAAGCTCGCGGCGGTGGTGGAAATCAAGGGCAATGGCATTCTCCAGGTTGTTAAGCAGCAGTGTGTACTCAGAGCGGTGTGGCAGCACCTGCCGGATGTCGATGCGATTGGCGAACAGCAGCACAGGCTCTGGCCCTGGGAAACAGTATAAACATGGGATACCCACTGGGTTTCAGAGCCGCCCCTGGTACCCATCAGCAGGTCTTCAGCTGACCGATGGAGCCACTTGCTCACAAGGACATGCCCCAAGCTGTCAGCATCAGTACCAGAAGAGTGGCAACCTTTAAACTATATTCCTCCACCCCTCCCCACCCCACTCCACCCCAGCAGCATTTTTCTTGGGGCTCAGAATGCAACTGTTGCTGCATTTTACTGTGACAGAAATCTCTCTACCTCTCTGCAAATCCCTGAGCACCAGAGTACCTGGCCTTCCTCCATGCTCGGCCCTCTGCCCACCCAGCCAAGTGCCAACAGCCCTTACCCAGAGCCTTGCAGCTGCGCCGGTCGGGCCGTAGTTCATAGCCTGTTTCACACCAGCATTGGAAAGCCCCTTCGCTGTTGGTGCAGCCCTGGCTGCAATACCCCTCCTCGGCACATTCATTCACATCTGGGAACACCAGGCAGGTCAAGAGATCTCCCTTCTGTCGTCCTCCCACTCCCGCTCCCAGGCTGCCGAGCTGCTTTTCTGCCCACATCCCCATCTACTTTCCAGGCCTAGTGGGAAGGCTGTCTAAGAAATGGTTAAGGGCGGCCGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGGCTCCATCTCAAAAAAATAAAAATAAAAAATAAAAAAGAAGAAATGGTTAAGGGCTTTAAGGTCATGCAGACCTGGGCTGGAATCCCAACTCTGCTACTCGCCAGCTGTGTGGCCTTTGGTAAGCTACTTATCCTCTCTGTGCTTCAGTCTCCCCATCTGTGAAATGGGAAGGATGATCCCCACCTCCTAGGGTTATTGTGAGGACGAAATGAGGTCACACCGTTCAAATGCCTGACCCATAGGAAACACAGCTGCCTGTCTGCTGCCCCTGCTCAGAACCCCGACTCTGCTGCAAACCAGGCCCCAGCTCACCTTGGCACGTGTGCCCATCCTCTGTGAGCCGGTAGCCTGTGTGGCAGGTACACTGCACTGCCCCCCGCACCATCTGGCACTTCTGGGCACAGCCACCGTTGTTAACATTGCAGTTCTCCTCACCCGTCCGGGGCCCTGTGCCAGCCAAGCCAGAGTTGGGAGTTGAGCCCAGAATCCTCCCCCAGAGAGCCAACTTGGCATTCCACCTGGACCACAAAGAACAGCTCCCAAAGCTGCAAGAGTCCTGAGGGAGGATTCCCTTTGAACCCTATGGGTGGGGTTCGGCCACAAACCATGGGCCAGGTCCGCCCACTGGGGACACTCACGGCAATTCTGCTGTGGGCTTTCGTCGCTGTTGTCACCACAGTCGTTGACCCCGTTGCACAGCTTCCTCTGCCCAATGCAGCGCCCATTCCAACACAGGAACTGGTCCAAGGCACATTGGGGGCTTCCTAGAGAGATGGAGGGTCAGGTCATAGCAAGGCAGGGCTTGGGCCAACAAAGAGATGGGAGCCTGTCATTTTCTAGGGTAAGCTGGAGACAGATGAGACTCAAGGTGGGAGGGTGAGGGTCCTGGGCAGGAAGCAGCTCAGACAGGGCTGGCTGAATGTCTGCATTTGCTTTCTCCCCAGGACTCCACAGTGGGATGGTGAGGAATATGGAACAGAATGAAAAAGTGCAACCACATGCTCAATACTGGGTGTGGCCAGGGGAGCACACATGGGGGCTGCCAGATGGAGGGTAGTCCTTCCTCACTAGACCAGAGCTAAAGGCACTGGCTGTGTGTGAGTTAGAATAGGAGTGGCAATTGAAACTCGCAGCTCTGATACTGTGCTCCAGGCCATAAGGCCGCAGGTCAATGATGCACCTGGATTTTACACTGGTAAAACCTCAACCCAACTGGAAAGATACCAAAGCACCCTCTTTTCCACCCTTCCACCCCAACTA
|
TAATTTTTGTATTTTGCAGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCGAATTACTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTACACCACACTTTGAGGATGTACTCCCAGAATGTCTAGTCCAGGTAGCCTGGGAGCTGTCCCGAGAGGTTGCAAGAAAGTTCGGGAGCCTGAGATACAACTTACCCCTCCATGGGATGCAAGGCAATGGCCCGGGGCTTCTCCAGGTTCTGCCACAGCAACACTTTCCGGTGGGCCCCATCCAGATTGGCCACCTCAATCCTCGAGGTGCCTGAGTCGGTCCAGTAGAGTTTGTCATGGACCCAATCCACAGCCAGGCCCCCTGGTGAGAAGCAGCAGCAAAAAATGTCAAGGAGTCAACCCAGGCCCCCATGTCCCATAGTAATAGGAGCAAACTCTTACAGGAAGCAATTTTTTGGGCCAGGCACTATTGTCATCACTTCAGATACATGAATTCATTTAAGCATCACAACTCTGTGAGCTAGATACTGTAATTTCCATGAGGATGAGGAAATTGAGGCACAAAAGAGTTAAGTAACTGTCCAAGGGCATGCACTTCCTCCTCACAGTCAACCATACATCACTTTCTGAATTCTGTCTCCCTGACGCATTCCCAGGGTCCCCCACTGCACTGACCCAGGGGTTTGTAAATTGTCATCTGGGGTTTTGCAGAGGCATTTCAGAAATTCCCTAGGCATTTGAGTCCAATGTGCTTGATACCAAATTAGAATTTGACCACTTCACCTATTTGTAAAATAGCCTGAGATTGACAAGTGAGCTGTTTCTGTGGTTTTTTGTTTGTTTGTTTCGAGATGGAGTCTCACTCCCATTGCGCAGGCTGGAGTGCAGTGGTGCAGTCTCGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGAGTTTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATTTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCACGTGATCCGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCTTGAACTATTTTTTTTTTTTTTTTGAGACGGAGTTTTGCCTAGGCTGAAGTACAATGGCGTGATCTCGGCTCACCGCAACCTCCACTTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGTTTTTTTAACAATCTATAAAACATTTTGATATACTTATCCAGGTCAATCAGAATATTCTTAATACTAAGCAATCGAAACAAAACTCAGAAATAAACTAGATGCAAAGGCTGATGGAGAACTCTGTCATCCATAAATCTGATTCCCATGATCACAACCACCAACGTGGTCTCATTATTCTCACTGATTGAGCTCAATCATGAGCAAATGTTATATTTGAACCTATAAAATTGATATACATTAACAAATGTTTTCTATATTAGGGCTCCAACTAAGATTTCCCTGGAAGAAAAAGATGTCCTGCTGCCTAAGGTTTGCAAACCACTGGCCTATTCCTCCCACCGTTGCTGCGCATGTGGCATGGCTCTGCCCCTCTCCATGGGGCCTTGTTCCCTACCTGGGCTCTCCAGCCCAGTAGACACAACCTCCTCCACGTTGCTGCCGTTGAGGTTGGCACGGAGGATCCGGTCCAGGGTGACATCTGACCAGAAGACAAGCTCGCGGCGGTGGTGGAAATCAAGGGCAATGGCATTCTCCAGGTTGTTAAGCAGCAGTGTGTACTCAGAGCGGTGTGGCAGCACCTGCCGGATGTTGATGCGATTGGCGAACAGCAGCACAGGCTCTGGCCCTGGGAAACAGTATAAACATGGGATACCCACTGGGTTTCAGAGCCGCCCCTGGTACCCATCAGCAGGTCTTCAGCTGACCGATGGAGCCACTTGCTCACAAGGACATGCCCCAAGCTGTCAGCATCAGTACCAGAAGAGTGGCAACCTTTAAACTATATTCCTCCACCCCTCCCCACCCCACTCCACCCCAGCAGCATTTTTCTTGGGGCTCAGAATGCAACTGTTGCTGCATTTTACTGTGACAGAAATCTCTCTACCTCTCTGCAAATCCCTGAGCACCAGAGTACCTGGCCTTCCTCCATGCTCGGCCCTCTGCCCACCCAGCCAAGTGCCAACAGCCCTTACCCAGAGCCTTGCAGCTGCGCCGGTCGGGCCGTAGTTCATAGCCTGTTTCACACCAGCATTGGAAAGCCCCTTCGCTGTTGGTGCAGCCCTGGCTGCAATACCCCTCCTCGGCACATTCATTCACATCTGGGAACACCAGGCAGGTCAAGAGATCTCCCTTCTGTCGTCCTCCCACTCCCGCTCCCAGGCTGCCGAGCTGCTTTTCTGCCCACATCCCCATCTACTTTCCAGGCCTAGTGGGAAGGCTGTCTAAGAAATGGTTAAGGGCGGCCGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGGCTCCATCTCAAAAAAATAAAAATAAAAAATAAAAAAGAAGAAATGGTTAAGGGCTTTAAGGTCATGCAGACCTGGGCTGGAATCCCAACTCTGCTACTCGCCAGCTGTGTGGCCTTTGGTAAGCTACTTATCCTCTCTGTGCTTCAGTCTCCCCATCTGTGAAATGGGAAGGATGATCCCCACCTCCTAGGGTTATTGTGAGGACGAAATGAGGTCACACCGTTCAAATGCCTGACCCATAGGAAACACAGCTGCCTGTCTGCTGCCCCTGCTCAGAACCCCGACTCTGCTGCAAACCAGGCCCCAGCTCACCTTGGCACGTGTGCCCATCCTCTGTGAGCCGGTAGCCTGTGTGGCAGGTACACTGCACTGCCCCCCGCACCATCTGGCACTTCTGGGCACAGCCACCGTTGTTAACATTGCAGTTCTCCTCACCCGTCCGGGGCCCTGTGCCAGCCAAGCCAGAGTTGGGAGTTGAGCCCAGAATCCTCCCCCAGAGAGCCAACTTGGCATTCCACCTGGACCACAAAGAACAGCTCCCAAAGCTGCAAGAGTCCTGAGGGAGGATTCCCTTTGAACCCTATGGGTGGGGTTCGGCCACAAACCATGGGCCAGGTCCGCCCACTGGGGACACTCACGGCAATTCTGCTGTGGGCTTTCGTCGCTGTTGTCACCACAGTCGTTGACCCCGTTGCACAGCTTCCTCTGCCCAATGCAGCGCCCATTCCAACACAGGAACTGGTCCAAGGCACATTGGGGGCTTCCTAGAGAGATGGAGGGTCAGGTCATAGCAAGGCAGGGCTTGGGCCAACAAAGAGATGGGAGCCTGTCATTTTCTAGGGTAAGCTGGAGACAGATGAGACTCAAGGTGGGAGGGTGAGGGTCCTGGGCAGGAAGCAGCTCAGACAGGGCTGGCTGAATGTCTGCATTTGCTTTCTCCCCAGGACTCCACAGTGGGATGGTGAGGAATATGGAACAGAATGAAAAAGTGCAACCACATGCTCAATACTGGGTGTGGCCAGGGGAGCACACATGGGGGCTGCCAGATGGAGGGTAGTCCTTCCTCACTAGACCAGAGCTAAAGGCACTGGCTGTGTGTGAGTTAGAATAGGAGTGGCAATTGAAACTCGCAGCTCTGATACTGTGCTCCAGGCCATAAGGCCGCAGGTCAATGATGCACCTGGATTTTACACTGGTAAAACCTCAACCCAACTGGAAAGATACCAAAGCACCCTCTTTTCCACCCTTCCACCCCAACTA
|
Task1_train_15768
|
This variant affects gene LRP4 (LDL receptor related protein 4) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Cenani-Lenz syndactyly syndrome
|
GGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCGGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTATACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCTCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGACCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGATTGTCTTGTTTTTTGAGATGTCATCTCACTCTGCTACAGGGACGCCGTCTCGGGTCACTGCAACCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTAACCATGTTACCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCCACCTTGGTCTCCCAAAGTGCTGGCATTATAAGCATGAGCCACCGCGCCCAGCCGGTAGTGGCCTCTTTGGCTCCACAAGCCTTCTCCTTAGTTCAAGCCCAACCTAATTCCATTTCCCCACTCACTGCAGTTGCGCTCATCAGACTGGTCATCACAGTCCGCGTCACCATCGCAGCGCCAGCCTGCATTGATGCACAGGCCACTGTCACACATGAACTCCCCAGAGCGGCAGGGCTGGTGGGAGGCTAGGGAAACACAAGACTTCTGTCTCTAGCCAGTCTGTGCAGTGTCCCATGGCAGACTAGAAGGCCACAGCCCCAGAATCCCAGTTCCTCCATCTCTTCCCAAGAGGGACCAGAAAATCCAGAAACTCCTCTCTGAACTCCTGCCCCAGCTGGCGACTGTGCCTTGCCACCCAAGCAGTTCTTCCCAGCCTGGCCTCCCCACCTCCCAGCTGGCCAGAGTACTCACAGCAGTCAGACTCGTCTGACCAGTCTCCACAGTCATCGTCGCCATCGCAGTGGTAGATGTCGAGGATGCAGCGTCCATAGGCACACTGGAACTCCTCCAGGTTGCAGGGGGGCGCTGGCACTGCTGAGGCTGGAGGGAAGGCAGGGGTGGGGAGGGGCACACACTCAGGCCTGGATGAAGGAGAGGGGCCCTGATTCCTCAAGCAGGCAGGATGCTCAGGCAGGAGAGCTTCTTCAAGTGAGATGTAACCAGGTTTCATCTGGGACAGCCCTTATAGACGCCCATATTCAGGTGGACCAAAGGAAGCCTTCCCTTCCCACCTGGGGAACTTGCTCCCTCCCTAGCTCAGCCTAGGAGGAGCTGCTGCTGAGGCACCCATGCTCCTTGCCCTTGGTACATGCACTCCTCAGCCTCGCCCTTAGCCAATGGGCAGAACTGTCTGCCCTCATCCAACCCAACAGCCTGAGGTCTGGGGCCACTCACGACAGTTCTCCTCATCGGAGCCATCTTTGCAGTCGGTGTCACCGTCGCAGTACCAATGCTCAGCAATGCAGCTTCCGTCACTACAGCGGAACTCCTTGTCGGAGCACTTGCGCATGTCTGGGGGGATGCGATGGGACAGCAGTTCTGAGGGGGCCCCACAGGCAACCCTCTCACCCTCCTCTCTGACTCCCAACCTCACTGGCTTTGGCGGGTCTGACCTAGCCCCCGAAAGGCACCCCAGAGTCAGTGCAGACTCTCCAGGGAGAACGGAGGCCCTGGAGAGACTGGGCCTCAGCCTCCTGGTCCACAGTTTCTGGGGGGTCTGAGCGGCTCTGCCCCCTCTGCGTTCCTCTAGCTGCTCCAGATATCTGGGCAGTTGGAGGTTTGGCAGTGCTAGGGCCATTGCTGCTATCTTCTCCCATGGCCAGGCCACCCACTGGCCACCTTGCCTGCCTTCCCCCGTTGGGGTCACCCACCACACTGCTCATCGCTGTTGTCGCCACAGTCATTGTCACCATCGCAGTGCCACAGACTCCGGATGCAGTAGCCATTCTGGCAGGGAAACTCGTCCTCCTCACACTCCCGGGGGGCTGTGGGCACAGAGCAGTCAGGCTGCTGCAGGCAGTGGGGGTCTGGTGCCTGGAAGCCTGACTTAAAGCCCTCCGGAGCAGTCAAGTAGCTCCAGTGCTGCCCTGAGGGCTCCGAAGGAGGTGGCTGCCTCTCAGCAGCTTATCTGACTTCGAGAGGAAGTGAAAGGACAGGACAAAGTGCTGAAAACACAAGGGCTCATGTGGACCTGGGGCATTGCTTTCTGATTGAAAATCCTTTCCCAGTGGAACTCAATGGAGTTCCGCCCAGCCTCTGCCAACACTCACGACAGTCCTGCTCATCCGAGTCATCCTCACAGTCGTTGTCCCCGTCACACACCCAGGAGCGGCGGATGCACTTGCCATTGTCACAGTGAAAGTCAAGAGGGGAACAGGTAGGTAGTACTGAATCCCAGGAAAAGAAAAGAAAAGTCAATCAACCTGGTATTCTTACTCAGGCTCAACTAGGCCAGATAGCCTTTTGCTCCAAATCCCCTTGTCTTTTTTTCTTTTTTTGAGACCGAGTCTTACTCTGTCACCCAGGTTGGAGTACAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGTTCAGGCGATTCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCTTCACCACACCTGGCTAGGTTTTTTTGGTTTTTGTTTTTGTTTTTTGCATTTTTAGTAGAGACAGGGTTTTGTCGTGTTGGCCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATGGCGCCTGGCCTTTTTTTTTTTTTTGAAACAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCACCGCCTCCTGGGTTCAAGGAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGTGTTACAGGTGCCCGCTGCCACACCCAGCTATCTTTTTTTTTGTGTGTATTTTTAGTAGAGGTGGGTTTTCGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGGCCTCAAGAGATCCACCTGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCCCCTTGTCTGTTTTATAGTCCTTCCTTACTGACTCCTAGGCCCATCCCCAGCTGATGGAGAAGCTAAGCAGAAACTGCAGCTAAGACAGAGATTCAAAAGGTAATTGTGGTGAGGGGTTCACAGGGTAGGGGAAGAACAACCCAAAGAACTCACAGGAGCTAAGAAAACATAAGAAAAACATGAGCAAGAGAAAGAAGCGCCTTTTTCCCCTCCTTTCCTCTTGTTAAATGATGATTGACACACCCGGGCTCAATTTCCAGTTCATTACGTAACACTCTGAGCAAGTCATTTACCCTCTCTGAGCTGAAGTCTTTTTGGCTGTACAATGGGGATAATTATACTCAGTTCATAGAGGCCTTTTGATATAATGCCTATGAAAATGCTACATGAAAGTGAAGCATTTATC
|
GGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCGGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTATACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCTCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGACCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGATTGTCTTGTTTTTTGAGATGTCATCTCACTCTGCTACAGGGACGCCGTCTCGGGTCACTGCAACCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTAACCATGTTACCCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCACCCACCTTGGTCTCCCAAAGTGCTGGCATTATAAGCATGAGCCACCGCGCCCAGCCGGTAGTGGCCTCTTTGGCTCCACAAGCCTTCTCCTTAGTTCAAGCCCAACCTAATTCCATTTCCCCACTCACTGCAGTTGCGCTCATCAGACTGGTCATCACAGTCCGCGTCACCATCGCAGCGCCAGCCTGCATTGATGCACAGGCCACTGTCACACATGAACTCCCCAGAGCGGCAGGGCTGGTGGGAGGCTAGGGAAACACAAGACTTCTGTCTCTAGCCAGTCTGTGCAGTGTCCCATGGCAGACTAGAAGGCCACAGCCCCAGAATCCCAGTTCCTCCATCTCTTCCCAAGAGGGACCAGAAAATCCAGAAACTCCTCTCTGAACTCCTGCCCCAGCTGGCGACTGTGCCTTGCCACCCAAGCAGTTCTTCCCAGCCTGGCCTCCCCACCTCCCAGCTGGCCAGAGTACTCACAGCAGTCAGACTCGTCTGACCAGTCTCCACAGTCATCGTCGCCATCGCAGTGGTAGATGTCGAGGATGCAGCGTCCATAGGCACACTGGAACTCCTCCAGGTTGCAGGGGGGCGCTGGCACTGCTGAGGCTGGAGGGAAGGCAGGGGTGGGGAGGGGCACACACTCAGGCCTGGATGAAGGAGAGGGGCCCTGATTCCTCAAGCAGGCAGGATGCTCAGGCAGGAGAGCTTCTTCAAGTGAGATGTAACCAGGTTTCATCTGGGACAGCCCTTATAGACGCCCATATTCAGGTGGACCAAAGGAAGCCTTCCCTTCCCACCTGGGGAACTTGCTCCCTCCCTAGCTCAGCCTAGGAGGAGCTGCTGCTGAGGCACCCATGCTCCTTGCCCTTGGTACATGCACTCCTCAGCCTCGCCCTTAGCCAATGGGCAGAACTGTCTGCCCTCATCCAACCCAACAGCCTGAGGTCTGGGGCCACTCACGACAGTTCTCCTCATCGGAGCCATCTTTGCAGTCGGTGTCACCGTCGCAGTACCAATGCTCAGCAATGTAGCTTCCGTCACTACAGCGGAACTCCTTGTCGGAGCACTTGCGCATGTCTGGGGGGATGCGATGGGACAGCAGTTCTGAGGGGGCCCCACAGGCAACCCTCTCACCCTCCTCTCTGACTCCCAACCTCACTGGCTTTGGCGGGTCTGACCTAGCCCCCGAAAGGCACCCCAGAGTCAGTGCAGACTCTCCAGGGAGAACGGAGGCCCTGGAGAGACTGGGCCTCAGCCTCCTGGTCCACAGTTTCTGGGGGGTCTGAGCGGCTCTGCCCCCTCTGCGTTCCTCTAGCTGCTCCAGATATCTGGGCAGTTGGAGGTTTGGCAGTGCTAGGGCCATTGCTGCTATCTTCTCCCATGGCCAGGCCACCCACTGGCCACCTTGCCTGCCTTCCCCCGTTGGGGTCACCCACCACACTGCTCATCGCTGTTGTCGCCACAGTCATTGTCACCATCGCAGTGCCACAGACTCCGGATGCAGTAGCCATTCTGGCAGGGAAACTCGTCCTCCTCACACTCCCGGGGGGCTGTGGGCACAGAGCAGTCAGGCTGCTGCAGGCAGTGGGGGTCTGGTGCCTGGAAGCCTGACTTAAAGCCCTCCGGAGCAGTCAAGTAGCTCCAGTGCTGCCCTGAGGGCTCCGAAGGAGGTGGCTGCCTCTCAGCAGCTTATCTGACTTCGAGAGGAAGTGAAAGGACAGGACAAAGTGCTGAAAACACAAGGGCTCATGTGGACCTGGGGCATTGCTTTCTGATTGAAAATCCTTTCCCAGTGGAACTCAATGGAGTTCCGCCCAGCCTCTGCCAACACTCACGACAGTCCTGCTCATCCGAGTCATCCTCACAGTCGTTGTCCCCGTCACACACCCAGGAGCGGCGGATGCACTTGCCATTGTCACAGTGAAAGTCAAGAGGGGAACAGGTAGGTAGTACTGAATCCCAGGAAAAGAAAAGAAAAGTCAATCAACCTGGTATTCTTACTCAGGCTCAACTAGGCCAGATAGCCTTTTGCTCCAAATCCCCTTGTCTTTTTTTCTTTTTTTGAGACCGAGTCTTACTCTGTCACCCAGGTTGGAGTACAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGTTCAGGCGATTCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCTTCACCACACCTGGCTAGGTTTTTTTGGTTTTTGTTTTTGTTTTTTGCATTTTTAGTAGAGACAGGGTTTTGTCGTGTTGGCCAGGCTGGTCTCAAACCCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATGGCGCCTGGCCTTTTTTTTTTTTTTGAAACAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCACCGCCTCCTGGGTTCAAGGAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGTGTTACAGGTGCCCGCTGCCACACCCAGCTATCTTTTTTTTTGTGTGTATTTTTAGTAGAGGTGGGTTTTCGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGGCCTCAAGAGATCCACCTGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCCCCTTGTCTGTTTTATAGTCCTTCCTTACTGACTCCTAGGCCCATCCCCAGCTGATGGAGAAGCTAAGCAGAAACTGCAGCTAAGACAGAGATTCAAAAGGTAATTGTGGTGAGGGGTTCACAGGGTAGGGGAAGAACAACCCAAAGAACTCACAGGAGCTAAGAAAACATAAGAAAAACATGAGCAAGAGAAAGAAGCGCCTTTTTCCCCTCCTTTCCTCTTGTTAAATGATGATTGACACACCCGGGCTCAATTTCCAGTTCATTACGTAACACTCTGAGCAAGTCATTTACCCTCTCTGAGCTGAAGTCTTTTTGGCTGTACAATGGGGATAATTATACTCAGTTCATAGAGGCCTTTTGATATAATGCCTATGAAAATGCTACATGAAAGTGAAGCATTTATC
|
Task1_train_15769
|
This mutation occurs in DDB2 (damage specific DNA binding protein 2) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Xeroderma pigmentosum, group E
|
CGCAGCATGTGTGCCCAGGCCTGGTTCCTCACGGCCAGGCCCATCATCACTCACTGGCTTTTTCCTTCCTCGTGTTAGATTGGAGCTGGAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCAGGGAAGAAAGGAAAGATGTCAGCCACTTTCCGCCCTTCTTTCTCTTTCTCAAACTGCTCCTTGGCTGCCCTCACTTTGGTCCAGGTGGGTTACTGCTTTGGGAAGGTGTTCTGGAGCCTCAGCTCTTCTGTAAGTCATACCTGTATTAGACTGGACCTTGACCCTCACTAGATAAGCCAGCATGGCGTGGACCCAGAAAGCCACCTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGGCCCCTGTAATTCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCATCCTGGGCAACAAGAGCGAAAATCTATCTCAAAAAAAAAAAAAAAAAATTACAGAATACTCGTCACTTTGATTTCCAGCTAGAGCCGTGACTCTGACTGCTCCCTGAGGAATTAAGTGAGGGTGCTGGGGTGTAACTAGCATTGGATTGGATCCTGGGCTGTCCCGCAGGGATGAGGAGTGCATGCGCACGCAAATCAGCAGGCAATTGGATAGACAAGGCTCCAGGCTACTCTTCCGCAAGAAATCTTCCTGCTTGAAGATATTCATAGGGGATGGCAAAAGGCAGTGTAGCATGGATTTGAGAGTTTGAGAGAAAAACTGTGAGCTGAGCTCTTCTGGCTGAATAGCAGGATCCCTGAAGCACCCTCCTAGTCAGCCTCCCAGTCCAGTGGTTTGAGGGACCAGAAGAGCTCCTGGTTGTGTTTTTTCCCCCAGTGTTCAGAAGGGGGCAGAAGTGCTTTTCTAGCCAGCTCTGAGGAACAGGGCCAGGCAATCCCTCTTTGGCTTGTGTCTCCTTTGGCCTAAAGGGTGAAGAGTGAAAGGAGAGAGCAGTAAAGGAGGCTTGCTCAGAACCCGGGGTGTGGGGGGCAGGCGTGCCTCAGGGCTTGCTTTATGGTATAAGCTTTGTCTGCTTCAGGGACTTTTAGGAGCTGGGGATCCTGGGCCCAGCCATAACCAGACAGATTTCTGAGCCCCATTATCCCATCCCCTCTGTCTGGACGGTAGAGCAGTCTGAATGTTCCTCACTAGGAATCCACGGCAAGACAGTTATTCATTCATTCAACAAATATTTATTGAATGCCCGCTGTGGGTTAGTCACCGGAGCGGCAACAGTGAGTAAATAGGACTATCTCTGTCCCCAAGAATCTTACAACACAGTCTCTCCCTCCAGCATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGACAACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGCAGCTTTGGAATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACAGCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGCTTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAGGTGTGATATCCCAGACCTCATCTCTCCTGCAGACCCTGCCTGTCTGACCACTGCTGGGGTTTTCCCTCAGTGTGGAAGCCACTACGTCAAACCTTTACCCCTGATAGCGTCTGCCAAGCTGATGTCTGGGAACCTTTGTGGCTGTGGCTGTCCCCATCAGCTGCTGAGTTTCCAGAATTTTTTTGTTGTTGTTCACAGCCCAGATTCACCTCTTCCTTTCCGCTCCTGTCTAGAGAGGAGTGGGAGGGAGAGTACCCCTGCAGGAGAAGGCCTGCAAGGCCAGGACCACAGAGGGCTTGTGGTTCCTTCAGCTCAGGGGCTTTTCACTTTGCCAGCTTGTTTCAGTCCCGATGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATCAAGGTGAGTGGCGGTGGGAAGGAGCTCGCAGAAGGAGGCTGTGATCATGAGGCCGGAGCAGGTCTGCCCACAGTGGGGAAGGGCTGATGTGGTAAGCCTGCCACCCCAGATCGCTCCTGGCCCGAGCACAGAGCATCTCTTACCCATTGGCTCTCTCTCTTCCTTTTATCCCACTTCTGCCATCCCATATGGTTGAGTTTTCTGTCTCGCTGATAAGATATTTTTCTGAGTTTTTTCAGCCCAGCTCTGATCTCACTGTGAGAATTTTCTAAGATCCTGACCCTCTGTTCTGTCTTCTCAGCTTCAGTTACCTGTGTACAGTTGACCCACAAACCTTCATTTTTTATTTTTTTATTATTTTTTTTAAGGCAGGGTCTCGCTCTGTCACCCAGGTGGGAGTACAGTGGGGCAAGCATGGTTCATTACAGCCTTGATCTCCCAGGCTCAAGCGATCCTCCTGCCTCACTTTTTTTTTTTTTGTAGAGACAGGGTATTCTTGTGTTACCCAGGCTGATCCTTTTTTTTTTTTTTTTTTTTTTTCTTGAAACGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAATCCTTCCGCCTTAGCCTCGGAAGTAGATTGGACTACAGGTATGCGCCACCATACCCAGCTAATTTTTTTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTAGGTTGAAGCCATCCCCCAACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCAACTTTGCCTTCTTAGTTTGTCTTGCAGGTTTCAGTGCTTCTAATAATAAAAATAAGTCTTTTATTTTCCCACCTTTTCTCAGGCTCTTGTTAATAGCTTCTCTATCATTAGTCCCCAACACTAATAGCTTTCAAGTCCTTTGATGCCTTTTTGCCTAAGCCCCCATGCAGACTGAGCTCTGCTAGTTCTGCATTCTTTTCCAAAACTACAGATCCTCTTCAGATCTTCAGGTTTTATGCCTATACTTCTCTGGTCAGTTCAGAATAGTGGTGGGGAGCGCCAGTTTCCAGCAGCCAGACCCCCCGGGTTAGAATCCTTGGGCAAATTACTTATATTTTGGATCTGTTTCCTCATCTGCAAAAAGGGAATACTAGTCTCTAACTGATAGGGTTGTTGTGAAGATGAGTCAGTATACTTAAAGCACTTGGCCCCATGCCCAGCACCTGGTAAGTACTGGTAAGTATTCAATAAATGATGATTGAATATTGAGTGGCCCCCACGTACCTCAATCACATCCAAGCTCTTAATAAATAATGTCAAGAATCCTTCCCCAGTTGGTGTTCCTGTTAATCCATCAGTGTTCCCGATAATCCATCTGT
|
CGCAGCATGTGTGCCCAGGCCTGGTTCCTCACGGCCAGGCCCATCATCACTCACTGGCTTTTTCCTTCCTCGTGTTAGATTGGAGCTGGAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCAGGGAAGAAAGGAAAGATGTCAGCCACTTTCCGCCCTTCTTTCTCTTTCTCAAACTGCTCCTTGGCTGCCCTCACTTTGGTCCAGGTGGGTTACTGCTTTGGGAAGGTGTTCTGGAGCCTCAGCTCTTCTGTAAGTCATACCTGTATTAGACTGGACCTTGACCCTCACTAGATAAGCCAGCATGGCGTGGACCCAGAAAGCCACCTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGGCCCCTGTAATTCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCATCCTGGGCAACAAGAGCGAAAATCTATCTCAAAAAAAAAAAAAAAAAATTACAGAATACTCGTCACTTTGATTTCCAGCTAGAGCCGTGACTCTGACTGCTCCCTGAGGAATTAAGTGAGGGTGCTGGGGTGTAACTAGCATTGGATTGGATCCTGGGCTGTCCCGCAGGGATGAGGAGTGCATGCGCACGCAAATCAGCAGGCAATTGGATAGACAAGGCTCCAGGCTACTCTTCCGCAAGAAATCTTCCTGCTTGAAGATATTCATAGGGGATGGCAAAAGGCAGTGTAGCATGGATTTGAGAGTTTGAGAGAAAAACTGTGAGCTGAGCTCTTCTGGCTGAATAGCAGGATCCCTGAAGCACCCTCCTAGTCAGCCTCCCAGTCCAGTGGTTTGAGGGACCAGAAGAGCTCCTGGTTGTGTTTTTTCCCCCAGTGTTCAGAAGGGGGCAGAAGTGCTTTTCTAGCCAGCTCTGAGGAACAGGGCCAGGCAATCCCTCTTTGGCTTGTGTCTCCTTTGGCCTAAAGGGTGAAGAGTGAAAGGAGAGAGCAGTAAAGGAGGCTTGCTCAGAACCCGGGGTGTGGGGGGCAGGCGTGCCTCAGGGCTTGCTTTATGGTATAAGCTTTGTCTGCTTCAGGGACTTTTAGGAGCTGGGGATCCTGGGCCCAGCCATAACCAGACAGATTTCTGAGCCCCATTATCCCATCCCCTCTGTCTGGACGGTAGAGCAGTCTGAATGTTCCTCACTAGGAATCCACGGCAAGACAGTTATTCATTCATTCAACAAATATTTATTGAATGCCCGCTGTGGGTTAGTCACCGGAGCGGCAACAGTGAGTAAATAGGACTATCTCTGTCCCCAAGAATCTTACAACACAGTCTCTCCCTCCAGCATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGACAACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGCAGCTTTGGAATCTCAGAATGCACAAAAAGGAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACAGCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGCTTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAGGTGTGATATCCCAGACCTCATCTCTCCTGCAGACCCTGCCTGTCTGACCACTGCTGGGGTTTTCCCTCAGTGTGGAAGCCACTACGTCAAACCTTTACCCCTGATAGCGTCTGCCAAGCTGATGTCTGGGAACCTTTGTGGCTGTGGCTGTCCCCATCAGCTGCTGAGTTTCCAGAATTTTTTTGTTGTTGTTCACAGCCCAGATTCACCTCTTCCTTTCCGCTCCTGTCTAGAGAGGAGTGGGAGGGAGAGTACCCCTGCAGGAGAAGGCCTGCAAGGCCAGGACCACAGAGGGCTTGTGGTTCCTTCAGCTCAGGGGCTTTTCACTTTGCCAGCTTGTTTCAGTCCCGATGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATCAAGGTGAGTGGCGGTGGGAAGGAGCTCGCAGAAGGAGGCTGTGATCATGAGGCCGGAGCAGGTCTGCCCACAGTGGGGAAGGGCTGATGTGGTAAGCCTGCCACCCCAGATCGCTCCTGGCCCGAGCACAGAGCATCTCTTACCCATTGGCTCTCTCTCTTCCTTTTATCCCACTTCTGCCATCCCATATGGTTGAGTTTTCTGTCTCGCTGATAAGATATTTTTCTGAGTTTTTTCAGCCCAGCTCTGATCTCACTGTGAGAATTTTCTAAGATCCTGACCCTCTGTTCTGTCTTCTCAGCTTCAGTTACCTGTGTACAGTTGACCCACAAACCTTCATTTTTTATTTTTTTATTATTTTTTTTAAGGCAGGGTCTCGCTCTGTCACCCAGGTGGGAGTACAGTGGGGCAAGCATGGTTCATTACAGCCTTGATCTCCCAGGCTCAAGCGATCCTCCTGCCTCACTTTTTTTTTTTTTGTAGAGACAGGGTATTCTTGTGTTACCCAGGCTGATCCTTTTTTTTTTTTTTTTTTTTTTTCTTGAAACGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAATCCTTCCGCCTTAGCCTCGGAAGTAGATTGGACTACAGGTATGCGCCACCATACCCAGCTAATTTTTTTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTAGGTTGAAGCCATCCCCCAACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCAACTTTGCCTTCTTAGTTTGTCTTGCAGGTTTCAGTGCTTCTAATAATAAAAATAAGTCTTTTATTTTCCCACCTTTTCTCAGGCTCTTGTTAATAGCTTCTCTATCATTAGTCCCCAACACTAATAGCTTTCAAGTCCTTTGATGCCTTTTTGCCTAAGCCCCCATGCAGACTGAGCTCTGCTAGTTCTGCATTCTTTTCCAAAACTACAGATCCTCTTCAGATCTTCAGGTTTTATGCCTATACTTCTCTGGTCAGTTCAGAATAGTGGTGGGGAGCGCCAGTTTCCAGCAGCCAGACCCCCCGGGTTAGAATCCTTGGGCAAATTACTTATATTTTGGATCTGTTTCCTCATCTGCAAAAAGGGAATACTAGTCTCTAACTGATAGGGTTGTTGTGAAGATGAGTCAGTATACTTAAAGCACTTGGCCCCATGCCCAGCACCTGGTAAGTACTGGTAAGTATTCAATAAATGATGATTGAATATTGAGTGGCCCCCACGTACCTCAATCACATCCAAGCTCTTAATAAATAATGTCAAGAATCCTTCCCCAGTTGGTGTTCCTGTTAATCCATCAGTGTTCCCGATAATCCATCTGT
|
Task1_train_15770
|
Here is a mutation in DDB2 (damage specific DNA binding protein 2) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; not provided
|
GAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCAGGGAAGAAAGGAAAGATGTCAGCCACTTTCCGCCCTTCTTTCTCTTTCTCAAACTGCTCCTTGGCTGCCCTCACTTTGGTCCAGGTGGGTTACTGCTTTGGGAAGGTGTTCTGGAGCCTCAGCTCTTCTGTAAGTCATACCTGTATTAGACTGGACCTTGACCCTCACTAGATAAGCCAGCATGGCGTGGACCCAGAAAGCCACCTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGGCCCCTGTAATTCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCATCCTGGGCAACAAGAGCGAAAATCTATCTCAAAAAAAAAAAAAAAAAATTACAGAATACTCGTCACTTTGATTTCCAGCTAGAGCCGTGACTCTGACTGCTCCCTGAGGAATTAAGTGAGGGTGCTGGGGTGTAACTAGCATTGGATTGGATCCTGGGCTGTCCCGCAGGGATGAGGAGTGCATGCGCACGCAAATCAGCAGGCAATTGGATAGACAAGGCTCCAGGCTACTCTTCCGCAAGAAATCTTCCTGCTTGAAGATATTCATAGGGGATGGCAAAAGGCAGTGTAGCATGGATTTGAGAGTTTGAGAGAAAAACTGTGAGCTGAGCTCTTCTGGCTGAATAGCAGGATCCCTGAAGCACCCTCCTAGTCAGCCTCCCAGTCCAGTGGTTTGAGGGACCAGAAGAGCTCCTGGTTGTGTTTTTTCCCCCAGTGTTCAGAAGGGGGCAGAAGTGCTTTTCTAGCCAGCTCTGAGGAACAGGGCCAGGCAATCCCTCTTTGGCTTGTGTCTCCTTTGGCCTAAAGGGTGAAGAGTGAAAGGAGAGAGCAGTAAAGGAGGCTTGCTCAGAACCCGGGGTGTGGGGGGCAGGCGTGCCTCAGGGCTTGCTTTATGGTATAAGCTTTGTCTGCTTCAGGGACTTTTAGGAGCTGGGGATCCTGGGCCCAGCCATAACCAGACAGATTTCTGAGCCCCATTATCCCATCCCCTCTGTCTGGACGGTAGAGCAGTCTGAATGTTCCTCACTAGGAATCCACGGCAAGACAGTTATTCATTCATTCAACAAATATTTATTGAATGCCCGCTGTGGGTTAGTCACCGGAGCGGCAACAGTGAGTAAATAGGACTATCTCTGTCCCCAAGAATCTTACAACACAGTCTCTCCCTCCAGCATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGACAACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGCAGCTTTGGAATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACAGCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGCTTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAGGTGTGATATCCCAGACCTCATCTCTCCTGCAGACCCTGCCTGTCTGACCACTGCTGGGGTTTTCCCTCAGTGTGGAAGCCACTACGTCAAACCTTTACCCCTGATAGCGTCTGCCAAGCTGATGTCTGGGAACCTTTGTGGCTGTGGCTGTCCCCATCAGCTGCTGAGTTTCCAGAATTTTTTTGTTGTTGTTCACAGCCCAGATTCACCTCTTCCTTTCCGCTCCTGTCTAGAGAGGAGTGGGAGGGAGAGTACCCCTGCAGGAGAAGGCCTGCAAGGCCAGGACCACAGAGGGCTTGTGGTTCCTTCAGCTCAGGGGCTTTTCACTTTGCCAGCTTGTTTCAGTCCCGATGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATCAAGGTGAGTGGCGGTGGGAAGGAGCTCGCAGAAGGAGGCTGTGATCATGAGGCCGGAGCAGGTCTGCCCACAGTGGGGAAGGGCTGATGTGGTAAGCCTGCCACCCCAGATCGCTCCTGGCCCGAGCACAGAGCATCTCTTACCCATTGGCTCTCTCTCTTCCTTTTATCCCACTTCTGCCATCCCATATGGTTGAGTTTTCTGTCTCGCTGATAAGATATTTTTCTGAGTTTTTTCAGCCCAGCTCTGATCTCACTGTGAGAATTTTCTAAGATCCTGACCCTCTGTTCTGTCTTCTCAGCTTCAGTTACCTGTGTACAGTTGACCCACAAACCTTCATTTTTTATTTTTTTATTATTTTTTTTAAGGCAGGGTCTCGCTCTGTCACCCAGGTGGGAGTACAGTGGGGCAAGCATGGTTCATTACAGCCTTGATCTCCCAGGCTCAAGCGATCCTCCTGCCTCACTTTTTTTTTTTTTGTAGAGACAGGGTATTCTTGTGTTACCCAGGCTGATCCTTTTTTTTTTTTTTTTTTTTTTTCTTGAAACGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAATCCTTCCGCCTTAGCCTCGGAAGTAGATTGGACTACAGGTATGCGCCACCATACCCAGCTAATTTTTTTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTAGGTTGAAGCCATCCCCCAACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCAACTTTGCCTTCTTAGTTTGTCTTGCAGGTTTCAGTGCTTCTAATAATAAAAATAAGTCTTTTATTTTCCCACCTTTTCTCAGGCTCTTGTTAATAGCTTCTCTATCATTAGTCCCCAACACTAATAGCTTTCAAGTCCTTTGATGCCTTTTTGCCTAAGCCCCCATGCAGACTGAGCTCTGCTAGTTCTGCATTCTTTTCCAAAACTACAGATCCTCTTCAGATCTTCAGGTTTTATGCCTATACTTCTCTGGTCAGTTCAGAATAGTGGTGGGGAGCGCCAGTTTCCAGCAGCCAGACCCCCCGGGTTAGAATCCTTGGGCAAATTACTTATATTTTGGATCTGTTTCCTCATCTGCAAAAAGGGAATACTAGTCTCTAACTGATAGGGTTGTTGTGAAGATGAGTCAGTATACTTAAAGCACTTGGCCCCATGCCCAGCACCTGGTAAGTACTGGTAAGTATTCAATAAATGATGATTGAATATTGAGTGGCCCCCACGTACCTCAATCACATCCAAGCTCTTAATAAATAATGTCAAGAATCCTTCCCCAGTTGGTGTTCCTGTTAATCCATCAGTGTTCCCGATAATCCATCTGTCTGCATGTCCCAGTTTGTATCTAGCCAGGTGTCGTAAGTCATTACAGCTTCCTGTGTGTGATTTGTGACTTATTTCTAAGCCTTCGCA
|
GAGGGAGCATCACTGGGCTGAAGTTTAACCCTCTCAATACCAACCAGTTTTACGCCTCCTCAATGGAGGGAACAACTAGGCTGCAAGACTTTAAAGGCAACATTCTACGAGTTTTTGCCAGCTCAGACACCATCAAGTGAGTAGTTTAACTAGCAGGGGAAAGGGCTTCTAAGCTTAGGTGTAGTTCCGGCAAGAGCATCCAGATCCCATTTCCTTAACCCAACCTGGCCCAGGGAAGAAAGGAAAGATGTCAGCCACTTTCCGCCCTTCTTTCTCTTTCTCAAACTGCTCCTTGGCTGCCCTCACTTTGGTCCAGGTGGGTTACTGCTTTGGGAAGGTGTTCTGGAGCCTCAGCTCTTCTGTAAGTCATACCTGTATTAGACTGGACCTTGACCCTCACTAGATAAGCCAGCATGGCGTGGACCCAGAAAGCCACCTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGGCCCCTGTAATTCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCATCCTGGGCAACAAGAGCGAAAATCTATCTCAAAAAAAAAAAAAAAAAATTACAGAATACTCGTCACTTTGATTTCCAGCTAGAGCCGTGACTCTGACTGCTCCCTGAGGAATTAAGTGAGGGTGCTGGGGTGTAACTAGCATTGGATTGGATCCTGGGCTGTCCCGCAGGGATGAGGAGTGCATGCGCACGCAAATCAGCAGGCAATTGGATAGACAAGGCTCCAGGCTACTCTTCCGCAAGAAATCTTCCTGCTTGAAGATATTCATAGGGGATGGCAAAAGGCAGTGTAGCATGGATTTGAGAGTTTGAGAGAAAAACTGTGAGCTGAGCTCTTCTGGCTGAATAGCAGGATCCCTGAAGCACCCTCCTAGTCAGCCTCCCAGTCCAGTGGTTTGAGGGACCAGAAGAGCTCCTGGTTGTGTTTTTTCCCCCAGTGTTCAGAAGGGGGCAGAAGTGCTTTTCTAGCCAGCTCTGAGGAACAGGGCCAGGCAATCCCTCTTTGGCTTGTGTCTCCTTTGGCCTAAAGGGTGAAGAGTGAAAGGAGAGAGCAGTAAAGGAGGCTTGCTCAGAACCCGGGGTGTGGGGGGCAGGCGTGCCTCAGGGCTTGCTTTATGGTATAAGCTTTGTCTGCTTCAGGGACTTTTAGGAGCTGGGGATCCTGGGCCCAGCCATAACCAGACAGATTTCTGAGCCCCATTATCCCATCCCCTCTGTCTGGACGGTAGAGCAGTCTGAATGTTCCTCACTAGGAATCCACGGCAAGACAGTTATTCATTCATTCAACAAATATTTATTGAATGCCCGCTGTGGGTTAGTCACCGGAGCGGCAACAGTGAGTAAATAGGACTATCTCTGTCCCCAAGAATCTTACAACACAGTCTCTCCCTCCAGCATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGACAACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGCAGCTTTGGAATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACAGCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCACCAGGTTAGAGGGAAAGCCAGCTTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAGGTGTGATATCCCAGACCTCATCTCTCCTGCAGACCCTGCCTGTCTGACCACTGCTGGGGTTTTCCCTCAGTGTGGAAGCCACTACGTCAAACCTTTACCCCTGATAGCGTCTGCCAAGCTGATGTCTGGGAACCTTTGTGGCTGTGGCTGTCCCCATCAGCTGCTGAGTTTCCAGAATTTTTTTGTTGTTGTTCACAGCCCAGATTCACCTCTTCCTTTCCGCTCCTGTCTAGAGAGGAGTGGGAGGGAGAGTACCCCTGCAGGAGAAGGCCTGCAAGGCCAGGACCACAGAGGGCTTGTGGTTCCTTCAGCTCAGGGGCTTTTCACTTTGCCAGCTTGTTTCAGTCCCGATGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATCAAGGTGAGTGGCGGTGGGAAGGAGCTCGCAGAAGGAGGCTGTGATCATGAGGCCGGAGCAGGTCTGCCCACAGTGGGGAAGGGCTGATGTGGTAAGCCTGCCACCCCAGATCGCTCCTGGCCCGAGCACAGAGCATCTCTTACCCATTGGCTCTCTCTCTTCCTTTTATCCCACTTCTGCCATCCCATATGGTTGAGTTTTCTGTCTCGCTGATAAGATATTTTTCTGAGTTTTTTCAGCCCAGCTCTGATCTCACTGTGAGAATTTTCTAAGATCCTGACCCTCTGTTCTGTCTTCTCAGCTTCAGTTACCTGTGTACAGTTGACCCACAAACCTTCATTTTTTATTTTTTTATTATTTTTTTTAAGGCAGGGTCTCGCTCTGTCACCCAGGTGGGAGTACAGTGGGGCAAGCATGGTTCATTACAGCCTTGATCTCCCAGGCTCAAGCGATCCTCCTGCCTCACTTTTTTTTTTTTTGTAGAGACAGGGTATTCTTGTGTTACCCAGGCTGATCCTTTTTTTTTTTTTTTTTTTTTTTCTTGAAACGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAATCCTTCCGCCTTAGCCTCGGAAGTAGATTGGACTACAGGTATGCGCCACCATACCCAGCTAATTTTTTTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTAGGTTGAAGCCATCCCCCAACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCAACTTTGCCTTCTTAGTTTGTCTTGCAGGTTTCAGTGCTTCTAATAATAAAAATAAGTCTTTTATTTTCCCACCTTTTCTCAGGCTCTTGTTAATAGCTTCTCTATCATTAGTCCCCAACACTAATAGCTTTCAAGTCCTTTGATGCCTTTTTGCCTAAGCCCCCATGCAGACTGAGCTCTGCTAGTTCTGCATTCTTTTCCAAAACTACAGATCCTCTTCAGATCTTCAGGTTTTATGCCTATACTTCTCTGGTCAGTTCAGAATAGTGGTGGGGAGCGCCAGTTTCCAGCAGCCAGACCCCCCGGGTTAGAATCCTTGGGCAAATTACTTATATTTTGGATCTGTTTCCTCATCTGCAAAAAGGGAATACTAGTCTCTAACTGATAGGGTTGTTGTGAAGATGAGTCAGTATACTTAAAGCACTTGGCCCCATGCCCAGCACCTGGTAAGTACTGGTAAGTATTCAATAAATGATGATTGAATATTGAGTGGCCCCCACGTACCTCAATCACATCCAAGCTCTTAATAAATAATGTCAAGAATCCTTCCCCAGTTGGTGTTCCTGTTAATCCATCAGTGTTCCCGATAATCCATCTGTCTGCATGTCCCAGTTTGTATCTAGCCAGGTGTCGTAAGTCATTACAGCTTCCTGTGTGTGATTTGTGACTTATTTCTAAGCCTTCGCA
|
Task1_train_15771
|
Given this variant in gene DDB2 (damage specific DNA binding protein 2) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Xeroderma pigmentosum, group E
|
CTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGGCCCCTGTAATTCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCATCCTGGGCAACAAGAGCGAAAATCTATCTCAAAAAAAAAAAAAAAAAATTACAGAATACTCGTCACTTTGATTTCCAGCTAGAGCCGTGACTCTGACTGCTCCCTGAGGAATTAAGTGAGGGTGCTGGGGTGTAACTAGCATTGGATTGGATCCTGGGCTGTCCCGCAGGGATGAGGAGTGCATGCGCACGCAAATCAGCAGGCAATTGGATAGACAAGGCTCCAGGCTACTCTTCCGCAAGAAATCTTCCTGCTTGAAGATATTCATAGGGGATGGCAAAAGGCAGTGTAGCATGGATTTGAGAGTTTGAGAGAAAAACTGTGAGCTGAGCTCTTCTGGCTGAATAGCAGGATCCCTGAAGCACCCTCCTAGTCAGCCTCCCAGTCCAGTGGTTTGAGGGACCAGAAGAGCTCCTGGTTGTGTTTTTTCCCCCAGTGTTCAGAAGGGGGCAGAAGTGCTTTTCTAGCCAGCTCTGAGGAACAGGGCCAGGCAATCCCTCTTTGGCTTGTGTCTCCTTTGGCCTAAAGGGTGAAGAGTGAAAGGAGAGAGCAGTAAAGGAGGCTTGCTCAGAACCCGGGGTGTGGGGGGCAGGCGTGCCTCAGGGCTTGCTTTATGGTATAAGCTTTGTCTGCTTCAGGGACTTTTAGGAGCTGGGGATCCTGGGCCCAGCCATAACCAGACAGATTTCTGAGCCCCATTATCCCATCCCCTCTGTCTGGACGGTAGAGCAGTCTGAATGTTCCTCACTAGGAATCCACGGCAAGACAGTTATTCATTCATTCAACAAATATTTATTGAATGCCCGCTGTGGGTTAGTCACCGGAGCGGCAACAGTGAGTAAATAGGACTATCTCTGTCCCCAAGAATCTTACAACACAGTCTCTCCCTCCAGCATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGACAACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGCAGCTTTGGAATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACAGCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGCTTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAGGTGTGATATCCCAGACCTCATCTCTCCTGCAGACCCTGCCTGTCTGACCACTGCTGGGGTTTTCCCTCAGTGTGGAAGCCACTACGTCAAACCTTTACCCCTGATAGCGTCTGCCAAGCTGATGTCTGGGAACCTTTGTGGCTGTGGCTGTCCCCATCAGCTGCTGAGTTTCCAGAATTTTTTTGTTGTTGTTCACAGCCCAGATTCACCTCTTCCTTTCCGCTCCTGTCTAGAGAGGAGTGGGAGGGAGAGTACCCCTGCAGGAGAAGGCCTGCAAGGCCAGGACCACAGAGGGCTTGTGGTTCCTTCAGCTCAGGGGCTTTTCACTTTGCCAGCTTGTTTCAGTCCCGATGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATCAAGGTGAGTGGCGGTGGGAAGGAGCTCGCAGAAGGAGGCTGTGATCATGAGGCCGGAGCAGGTCTGCCCACAGTGGGGAAGGGCTGATGTGGTAAGCCTGCCACCCCAGATCGCTCCTGGCCCGAGCACAGAGCATCTCTTACCCATTGGCTCTCTCTCTTCCTTTTATCCCACTTCTGCCATCCCATATGGTTGAGTTTTCTGTCTCGCTGATAAGATATTTTTCTGAGTTTTTTCAGCCCAGCTCTGATCTCACTGTGAGAATTTTCTAAGATCCTGACCCTCTGTTCTGTCTTCTCAGCTTCAGTTACCTGTGTACAGTTGACCCACAAACCTTCATTTTTTATTTTTTTATTATTTTTTTTAAGGCAGGGTCTCGCTCTGTCACCCAGGTGGGAGTACAGTGGGGCAAGCATGGTTCATTACAGCCTTGATCTCCCAGGCTCAAGCGATCCTCCTGCCTCACTTTTTTTTTTTTTGTAGAGACAGGGTATTCTTGTGTTACCCAGGCTGATCCTTTTTTTTTTTTTTTTTTTTTTTCTTGAAACGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAATCCTTCCGCCTTAGCCTCGGAAGTAGATTGGACTACAGGTATGCGCCACCATACCCAGCTAATTTTTTTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTAGGTTGAAGCCATCCCCCAACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCAACTTTGCCTTCTTAGTTTGTCTTGCAGGTTTCAGTGCTTCTAATAATAAAAATAAGTCTTTTATTTTCCCACCTTTTCTCAGGCTCTTGTTAATAGCTTCTCTATCATTAGTCCCCAACACTAATAGCTTTCAAGTCCTTTGATGCCTTTTTGCCTAAGCCCCCATGCAGACTGAGCTCTGCTAGTTCTGCATTCTTTTCCAAAACTACAGATCCTCTTCAGATCTTCAGGTTTTATGCCTATACTTCTCTGGTCAGTTCAGAATAGTGGTGGGGAGCGCCAGTTTCCAGCAGCCAGACCCCCCGGGTTAGAATCCTTGGGCAAATTACTTATATTTTGGATCTGTTTCCTCATCTGCAAAAAGGGAATACTAGTCTCTAACTGATAGGGTTGTTGTGAAGATGAGTCAGTATACTTAAAGCACTTGGCCCCATGCCCAGCACCTGGTAAGTACTGGTAAGTATTCAATAAATGATGATTGAATATTGAGTGGCCCCCACGTACCTCAATCACATCCAAGCTCTTAATAAATAATGTCAAGAATCCTTCCCCAGTTGGTGTTCCTGTTAATCCATCAGTGTTCCCGATAATCCATCTGTCTGCATGTCCCAGTTTGTATCTAGCCAGGTGTCGTAAGTCATTACAGCTTCCTGTGTGTGATTTGTGACTTATTTCTAAGCCTTCGCATGTACTATTTCTTCCTTCCTGCTAACCATGTCTTTCTTCCTTCAAAACTTCCTTGAGAAGTTTAGGAAAATCCCATCCAATTCTGCCATTTTAATAACTGCCAGATTTGTTTTTAGTGGGGTGATCTGGGGAATGTGGGTTTCCTTCTCTTTTTTAGCCATTAGCAATTTTACACTCAGCTCTTAGTTATTCGTGTTGATGGAGACAGGATGACAGTGGGGCTCCTCCAGAACTCAAGTCCTGTTAGGGTTTGGTCACCAGAGGCTTTTTCTGCTTTGTTGTAGGCCTCTTAGGTCAGTATCTGGGTCAGGCTGATGTTAAAACGTTTACCAGTTGGTATGATCTTAGGAAATGCAAATGAGGGAGAAGGCCTGAAGGTGCCCTAAGGGCCAGGGAGGCCAGCTAGGGATTAAAAATGTGCAATGGCAGAGGCACA
|
CTAGAGAATGGAGCAACAGCTCAGAACTTGAGACTGAATGCCCTGCACTCACTGTGGTGTAATGACCTGACCTGTTCCTGGGTGGAAGCTTATATGGATGGAATCTTTTCCATAAAGTGCTCTGGACTTCCCAAGAGAAAGTGGCTGGAGAAATTACAGAATGCGGCCGGGTGCAGTGGCTCATGCTTGAAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAACAATACAAAAAATTAGCTGGGCGTGGTGGTAGGCCCCTGTAATTCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATGGCGCCATTGCACTCCATCCTGGGCAACAAGAGCGAAAATCTATCTCAAAAAAAAAAAAAAAAAATTACAGAATACTCGTCACTTTGATTTCCAGCTAGAGCCGTGACTCTGACTGCTCCCTGAGGAATTAAGTGAGGGTGCTGGGGTGTAACTAGCATTGGATTGGATCCTGGGCTGTCCCGCAGGGATGAGGAGTGCATGCGCACGCAAATCAGCAGGCAATTGGATAGACAAGGCTCCAGGCTACTCTTCCGCAAGAAATCTTCCTGCTTGAAGATATTCATAGGGGATGGCAAAAGGCAGTGTAGCATGGATTTGAGAGTTTGAGAGAAAAACTGTGAGCTGAGCTCTTCTGGCTGAATAGCAGGATCCCTGAAGCACCCTCCTAGTCAGCCTCCCAGTCCAGTGGTTTGAGGGACCAGAAGAGCTCCTGGTTGTGTTTTTTCCCCCAGTGTTCAGAAGGGGGCAGAAGTGCTTTTCTAGCCAGCTCTGAGGAACAGGGCCAGGCAATCCCTCTTTGGCTTGTGTCTCCTTTGGCCTAAAGGGTGAAGAGTGAAAGGAGAGAGCAGTAAAGGAGGCTTGCTCAGAACCCGGGGTGTGGGGGGCAGGCGTGCCTCAGGGCTTGCTTTATGGTATAAGCTTTGTCTGCTTCAGGGACTTTTAGGAGCTGGGGATCCTGGGCCCAGCCATAACCAGACAGATTTCTGAGCCCCATTATCCCATCCCCTCTGTCTGGACGGTAGAGCAGTCTGAATGTTCCTCACTAGGAATCCACGGCAAGACAGTTATTCATTCATTCAACAAATATTTATTGAATGCCCGCTGTGGGTTAGTCACCGGAGCGGCAACAGTGAGTAAATAGGACTATCTCTGTCCCCAAGAATCTTACAACACAGTCTCTCCCTCCAGCATCTGGTTTTGTAGCCTGGATGTGTCTGCTAGTAGCCGAATGGTGGTCACAGGAGACAACGTGGGGAACGTGATCCTGCTGAACATGGACGGCAAAGAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGCAGCTTTGGAATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTGAACCCATGCTGTGATTGGTTCCTGGCCACAGCCTCCGTAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGCTTCCTCTACTCGCTGCCGCACAGGCATCCTGTCAACGCAGGTGTGATATCCCAGACCTCATCTCTCCTGCAGACCCTGCCTGTCTGACCACTGCTGGGGTTTTCCCTCAGTGTGGAAGCCACTACGTCAAACCTTTACCCCTGATAGCGTCTGCCAAGCTGATGTCTGGGAACCTTTGTGGCTGTGGCTGTCCCCATCAGCTGCTGAGTTTCCAGAATTTTTTTGTTGTTGTTCACAGCCCAGATTCACCTCTTCCTTTCCGCTCCTGTCTAGAGAGGAGTGGGAGGGAGAGTACCCCTGCAGGAGAAGGCCTGCAAGGCCAGGACCACAGAGGGCTTGTGGTTCCTTCAGCTCAGGGGCTTTTCACTTTGCCAGCTTGTTTCAGTCCCGATGGAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCCCCCTGGGCCTGATCCCGCACCCTCACCGTCACTTCCAGCACCTCACACCCATCAAGGTGAGTGGCGGTGGGAAGGAGCTCGCAGAAGGAGGCTGTGATCATGAGGCCGGAGCAGGTCTGCCCACAGTGGGGAAGGGCTGATGTGGTAAGCCTGCCACCCCAGATCGCTCCTGGCCCGAGCACAGAGCATCTCTTACCCATTGGCTCTCTCTCTTCCTTTTATCCCACTTCTGCCATCCCATATGGTTGAGTTTTCTGTCTCGCTGATAAGATATTTTTCTGAGTTTTTTCAGCCCAGCTCTGATCTCACTGTGAGAATTTTCTAAGATCCTGACCCTCTGTTCTGTCTTCTCAGCTTCAGTTACCTGTGTACAGTTGACCCACAAACCTTCATTTTTTATTTTTTTATTATTTTTTTTAAGGCAGGGTCTCGCTCTGTCACCCAGGTGGGAGTACAGTGGGGCAAGCATGGTTCATTACAGCCTTGATCTCCCAGGCTCAAGCGATCCTCCTGCCTCACTTTTTTTTTTTTTGTAGAGACAGGGTATTCTTGTGTTACCCAGGCTGATCCTTTTTTTTTTTTTTTTTTTTTTTCTTGAAACGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAATCCTTCCGCCTTAGCCTCGGAAGTAGATTGGACTACAGGTATGCGCCACCATACCCAGCTAATTTTTTTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCAAGCTGGTCTTGAACTCCTAGGTTGAAGCCATCCCCCAACCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCAACTTTGCCTTCTTAGTTTGTCTTGCAGGTTTCAGTGCTTCTAATAATAAAAATAAGTCTTTTATTTTCCCACCTTTTCTCAGGCTCTTGTTAATAGCTTCTCTATCATTAGTCCCCAACACTAATAGCTTTCAAGTCCTTTGATGCCTTTTTGCCTAAGCCCCCATGCAGACTGAGCTCTGCTAGTTCTGCATTCTTTTCCAAAACTACAGATCCTCTTCAGATCTTCAGGTTTTATGCCTATACTTCTCTGGTCAGTTCAGAATAGTGGTGGGGAGCGCCAGTTTCCAGCAGCCAGACCCCCCGGGTTAGAATCCTTGGGCAAATTACTTATATTTTGGATCTGTTTCCTCATCTGCAAAAAGGGAATACTAGTCTCTAACTGATAGGGTTGTTGTGAAGATGAGTCAGTATACTTAAAGCACTTGGCCCCATGCCCAGCACCTGGTAAGTACTGGTAAGTATTCAATAAATGATGATTGAATATTGAGTGGCCCCCACGTACCTCAATCACATCCAAGCTCTTAATAAATAATGTCAAGAATCCTTCCCCAGTTGGTGTTCCTGTTAATCCATCAGTGTTCCCGATAATCCATCTGTCTGCATGTCCCAGTTTGTATCTAGCCAGGTGTCGTAAGTCATTACAGCTTCCTGTGTGTGATTTGTGACTTATTTCTAAGCCTTCGCATGTACTATTTCTTCCTTCCTGCTAACCATGTCTTTCTTCCTTCAAAACTTCCTTGAGAAGTTTAGGAAAATCCCATCCAATTCTGCCATTTTAATAACTGCCAGATTTGTTTTTAGTGGGGTGATCTGGGGAATGTGGGTTTCCTTCTCTTTTTTAGCCATTAGCAATTTTACACTCAGCTCTTAGTTATTCGTGTTGATGGAGACAGGATGACAGTGGGGCTCCTCCAGAACTCAAGTCCTGTTAGGGTTTGGTCACCAGAGGCTTTTTCTGCTTTGTTGTAGGCCTCTTAGGTCAGTATCTGGGTCAGGCTGATGTTAAAACGTTTACCAGTTGGTATGATCTTAGGAAATGCAAATGAGGGAGAAGGCCTGAAGGTGCCCTAAGGGCCAGGGAGGCCAGCTAGGGATTAAAAATGTGCAATGGCAGAGGCACA
|
Task1_train_15772
|
A variant has been detected on Chromosome 11 in NR1H3 (nuclear receptor subfamily 1 group H member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Multiple sclerosis
|
GGTCTCAAACTCTTGAGCTCAGGCAATCCGTCTGCCTCGGCCTCCTAAAGTGCTGGGATTATAGGGATAAGCCACCGCATCCAGCCTTTTTTCTTTTTCTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGAATTACAGGAGTGCACCACCACGCCCAGCTAATTTTTGTATTTTCAGTGAGACAGGGTTTTGCCATGTCGGCCAGGCTGGTCTCAAACTCCTGAACTCAGGTGATCCCCCTGCCTCGGCCTCCCAAAATACTGGGATTACAGGCATGAACCGCCGTGCCTTGCTGAAAAACGATTCTTGATAAACAAAAATAAGAGTTGCCTCTATTTCTAGAAATGTGGAGCCCTCAAGAATTTTAATGACAGAATTGGCAGGTGATGGTGTCTGGTGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGCGGGTGGATTGCTTGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAATCCTGTCACAACTGAAAATATAAGAATTAGCTACTTGTGATGGTATGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAAGTAGGAGGATGGCTTGCACCCGGGAGGTCGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGTCTGGGTGATAGAACAAGACCCTGTCTCAAAGAAAAAAAACAAGAATACCAGAATTATTATTTAATTCAGCACCTCTTGTGTGCCAGACACAGCGCTAAGTGCCCTGCATACTTTGTCATTGAACTATACCAACAATTTTCTGAGAAGGGTTCAGATATGATTCCCATTTCACAGATGAGGCTTATAGAGGGGTTAAGACATTTGCTCAAGGTTACACAGCAAAGCCTTGTAGACCTTTTTTTTTTTTTTGACGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTAGTGCAATCTTGGGTCACTGCAACCTCTGCCTCCCGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAGTTTTTGTGTTTTTAGTACAGACGGGGTTTCGCCATGTTGGCCAGGCTCTTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCGAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCAGTAAACTTCTTAGTGAGTTCCTAATAGTTCCCTAAGGTGAGGAGAGAAGAAAGTTCCTGCTGCTCCTGCTGCTTGCGTCAGCCTCCCTTCTTCCTCCCCAGGGCTGCAAGTGGAATTCATCAACCCCATCTTCGAGTTCTCCAGGGCCATGAATGAGCTGCAACTCAATGATGCCGAGTTTGCCTTGCTCATTGCTATCAGCATCTTCTCTGCAGGTGTGGAGGAGGGGCAATGGGAAACAGCAAGAGACTTACACCAAGGAGGGCTGCAGGTCCCACAGGAATCGGTGGGGGGAGGGGGGTGGTGGCTTGGGAGGGTGGAGGCATTTGCTGTGTTATTTTAGGATGAGAGAGCTTGGCTGGAGCATGTCTCTATATTTTGGTTGCAATTTGGGGTATGGAACTGGACCCTGGCCAGACCTGCTCCTCAACTCTCTTGGTGACCTATAGACCGGCCCAACGTGCAGGACCAGCTCCAGGTAGAGAGGCTGCAGCACACATATGTGGAAGCCCTGCATGCCTACGTCTCCATCCACCATCCCCATGTGAGTCTCCCCATGGTGTTCCTTTTCCTCCTTCCCACACACAGGCCCATTCCCTGACATACCTACTTTCCCTTCAAGAATTTCTCTCTGACTGCATGCTGTGCAGACAATTCACCTCTCCCACAACTCCCCTACTCTTGCCCCGCTTCCCTGGGGACAGGCAAAAGCTGTGTTTGTCTCTCTCCTTTCCCCAGGACCGACTGATGTTCCCACGGATGCTAATGAAACTGGTGAGCCTCCGGACCCTGAGCAGCGTCCACTCAGAGCAAGTGTTTGCACTGCGTCTGCAGGACAAAAAGCTCCCACCGCTGCTCTCTGAGATCTGGGATGTGCACGAATGACTGTTCTGTCCCCATATTTTCTGTTTTCTTGGCCGGATGGCTGAGGCCTGGTGGCTGCCTCCTAGAAGTGGAACAGACTGAGAAGGGCAAACATTCCTGGGAGCTGGGCAAGGAGATCCTCCCGTGGCATTAAAAGAGAGTCAAAGGGTTGCGAGTTTTGTGGCTACTGAGCAGTGGAGCCCTCGCTAACACTGTGCTGTGTCTGAAGATCATGCTGACCCCACAAACGGATGGGCCTGGGGGCCACTTTGCACAGGGTTCTCCAGAGCCCTGCCCATCCTGCCTCCACCACTTCCTGTTTTTCCCACAGGGCCCCAAGAAAAATTCTCCACTGTCACTCTGTGGTATGGCCATAAATGCCTCAGCGCCGCCTCACTGATAGGTCTGGTACTGTTTGAACAGGAAGATCAAAATGAATACAAAATGAGAGAAACCAATTTCTGGATTGGGGGTGGGGACACGGTAATAGAGGAGGAAGCCTGCGATCTTTAGGATCCGCCTCCAGGCCCAGAGGAGGGAGAGTCACAAATGACAGCCTTGGCCGTGAGAGGGGGCCTCTTCTTACTAACCCCCACTGCGCCATATGGGTAAATGGAATGCTGAGGCTTAGGCGCCCCCTTCCCCTGCTGGGATCCGGGTAGGATCCGGTTGCCTTTCTGCGGTGGAGGAGGAAGTGTTGGATTTCAGCGCTAAGGCGTCGGCGGTGCACCTCACGTGCATGTGTAGCATGCCTTGGTTTTTCCTTTGGCATCTGAAAAAGGCACAACCTGAAAGACCTAGAACCCAGTGTCGGTCCCCAGGCCCTTTGGGACAGGAAGAGAAGAGCCGTGTGGCCGCGGGGAGGATGTCCTGAGGCGGGGCTGTCCTCGCGGACTGACTGGACTCCATCTCCCAGCGGGCGCCGCGGCGCGGCCACGCCCCCCCACTCCCCGCGCGCGCCCGGTGGAGGTAACCGCGGCCGCGCGCCCCCCTCTGCCCCCGCTGCCCAGGATTGGTAGGCTCCACCGCTCGGCAGCCGGCTTCCCTGCTCGGACGCCGAGCACCGCCAAAGCGCGTGAGTGGGGGGTGGGGACTGGGGGATGGGGAGCCCGTCAGGAAGTCTCAGGGGCCGATTATCTTGGGAAGTGACTTTCAGAGGAATCCCCATGTCGTCGAAACGGGCGCTATGACCCCGTCGGGTGAGAGTCTCTCTGAGCAACCCAAACAGAAGGTACTGCTGTGGGTCCCCCACTTGGCACGCGACGGCGCTGGGTCGGCCTGGCGCGCCCTCCCGCGCCCACGGGCGCTAGGCTAGGTCTGTGCGCAGCCGCTGTCTCCCGAGGTCGGCCCCGCCCCGCGGCGCTCGGCTCGGTGCAGCCCCGGCCCCCCGGGCTGAATGGTACGGCCCCGGCCCCGGCCTCCCCCTCCGCACCCCGCGCGAGTGGTGCGTGCCCCCCAGTGCAGACGCGGAACTGGCGCCCGCTCGGAGCGGCGCCGCGCTGGGGAGCGACTGACGCCCCGCTGCCGGGGGACGTCGGGCTGGGCCTGGCCAGTCCCCCAGAGCTTGGGAGGTAGGAGAGTCTGGGCCGGTGGGGTCCTGGGCGAGCGTCTGGGGACTCCGAGCGGGAGACGGGCTCTGAGAGGACACCGTGGCTCTTGGAGGAAGGGGTCTCTCAGGAGGCCCTGGGGGAGTGTGAAGGGGCGTGGGGACGGGGGTCTGCCGAGGAGGGGCGGGGACGGGGATGGGGGCGCCCCGGGCAGAGGAGGGGGCTCAGGCTACTGGGCTTGGTTCCTGCCGAGCGGGCGGCTCGGGTTCAGGTTCGGGGCGGGGGCGGGGGCGGGGGAGAACTGTCCAGCAGGTGAGGGGGCGGGCAGAGCTGGCCAGCCCTGGGGCCGAACCCGCACAGCGCTTGGCGGGTGTGCTTGTGCGTGTGCGTGCTTGCGCCTTATTTTTGGCTAGAATTTGGA
|
GGTCTCAAACTCTTGAGCTCAGGCAATCCGTCTGCCTCGGCCTCCTAAAGTGCTGGGATTATAGGGATAAGCCACCGCATCCAGCCTTTTTTCTTTTTCTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGAATTACAGGAGTGCACCACCACGCCCAGCTAATTTTTGTATTTTCAGTGAGACAGGGTTTTGCCATGTCGGCCAGGCTGGTCTCAAACTCCTGAACTCAGGTGATCCCCCTGCCTCGGCCTCCCAAAATACTGGGATTACAGGCATGAACCGCCGTGCCTTGCTGAAAAACGATTCTTGATAAACAAAAATAAGAGTTGCCTCTATTTCTAGAAATGTGGAGCCCTCAAGAATTTTAATGACAGAATTGGCAGGTGATGGTGTCTGGTGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGCGGGTGGATTGCTTGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAATCCTGTCACAACTGAAAATATAAGAATTAGCTACTTGTGATGGTATGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAAGTAGGAGGATGGCTTGCACCCGGGAGGTCGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGTCTGGGTGATAGAACAAGACCCTGTCTCAAAGAAAAAAAACAAGAATACCAGAATTATTATTTAATTCAGCACCTCTTGTGTGCCAGACACAGCGCTAAGTGCCCTGCATACTTTGTCATTGAACTATACCAACAATTTTCTGAGAAGGGTTCAGATATGATTCCCATTTCACAGATGAGGCTTATAGAGGGGTTAAGACATTTGCTCAAGGTTACACAGCAAAGCCTTGTAGACCTTTTTTTTTTTTTTGACGGAATCTCGCTCTATCGCCCAGGCTGGAGTGCAGTAGTGCAATCTTGGGTCACTGCAACCTCTGCCTCCCGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAGTTTTTGTGTTTTTAGTACAGACGGGGTTTCGCCATGTTGGCCAGGCTCTTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCGAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCAGTAAACTTCTTAGTGAGTTCCTAATAGTTCCCTAAGGTGAGGAGAGAAGAAAGTTCCTGCTGCTCCTGCTGCTTGCGTCAGCCTCCCTTCTTCCTCCCCAGGGCTGCAAGTGGAATTCATCAACCCCATCTTCGAGTTCTCCAGGGCCATGAATGAGCTGCAACTCAATGATGCCGAGTTTGCCTTGCTCATTGCTATCAGCATCTTCTCTGCAGGTGTGGAGGAGGGGCAATGGGAAACAGCAAGAGACTTACACCAAGGAGGGCTGCAGGTCCCACAGGAATCGGTGGGGGGAGGGGGGTGGTGGCTTGGGAGGGTGGAGGCATTTGCTGTGTTATTTTAGGATGAGAGAGCTTGGCTGGAGCATGTCTCTATATTTTGGTTGCAATTTGGGGTATGGAACTGGACCCTGGCCAGACCTGCTCCTCAACTCTCTTGGTGACCTATAGACCGGCCCAACGTGCAGGACCAGCTCCAGGTAGAGAGGCTGCAGCACACATATGTGGAAGCCCTGCATGCCTACGTCTCCATCCACCATCCCCATGTGAGTCTCCCCATGGTGTTCCTTTTCCTCCTTCCCACACACAGGCCCATTCCCTGACATACCTACTTTCCCTTCAAGAATTTCTCTCTGACTGCATGCTGTGCAGACAATTCACCTCTCCCACAACTCCCCTACTCTTGCCCCGCTTCCCTGGGGACAGGCAAAAGCTGTGTTTGTCTCTCTCCTTTCCCCAGGACCGACTGATGTTCCCACGGATGCTAATGAAACTGGTGAGCCTCCAGACCCTGAGCAGCGTCCACTCAGAGCAAGTGTTTGCACTGCGTCTGCAGGACAAAAAGCTCCCACCGCTGCTCTCTGAGATCTGGGATGTGCACGAATGACTGTTCTGTCCCCATATTTTCTGTTTTCTTGGCCGGATGGCTGAGGCCTGGTGGCTGCCTCCTAGAAGTGGAACAGACTGAGAAGGGCAAACATTCCTGGGAGCTGGGCAAGGAGATCCTCCCGTGGCATTAAAAGAGAGTCAAAGGGTTGCGAGTTTTGTGGCTACTGAGCAGTGGAGCCCTCGCTAACACTGTGCTGTGTCTGAAGATCATGCTGACCCCACAAACGGATGGGCCTGGGGGCCACTTTGCACAGGGTTCTCCAGAGCCCTGCCCATCCTGCCTCCACCACTTCCTGTTTTTCCCACAGGGCCCCAAGAAAAATTCTCCACTGTCACTCTGTGGTATGGCCATAAATGCCTCAGCGCCGCCTCACTGATAGGTCTGGTACTGTTTGAACAGGAAGATCAAAATGAATACAAAATGAGAGAAACCAATTTCTGGATTGGGGGTGGGGACACGGTAATAGAGGAGGAAGCCTGCGATCTTTAGGATCCGCCTCCAGGCCCAGAGGAGGGAGAGTCACAAATGACAGCCTTGGCCGTGAGAGGGGGCCTCTTCTTACTAACCCCCACTGCGCCATATGGGTAAATGGAATGCTGAGGCTTAGGCGCCCCCTTCCCCTGCTGGGATCCGGGTAGGATCCGGTTGCCTTTCTGCGGTGGAGGAGGAAGTGTTGGATTTCAGCGCTAAGGCGTCGGCGGTGCACCTCACGTGCATGTGTAGCATGCCTTGGTTTTTCCTTTGGCATCTGAAAAAGGCACAACCTGAAAGACCTAGAACCCAGTGTCGGTCCCCAGGCCCTTTGGGACAGGAAGAGAAGAGCCGTGTGGCCGCGGGGAGGATGTCCTGAGGCGGGGCTGTCCTCGCGGACTGACTGGACTCCATCTCCCAGCGGGCGCCGCGGCGCGGCCACGCCCCCCCACTCCCCGCGCGCGCCCGGTGGAGGTAACCGCGGCCGCGCGCCCCCCTCTGCCCCCGCTGCCCAGGATTGGTAGGCTCCACCGCTCGGCAGCCGGCTTCCCTGCTCGGACGCCGAGCACCGCCAAAGCGCGTGAGTGGGGGGTGGGGACTGGGGGATGGGGAGCCCGTCAGGAAGTCTCAGGGGCCGATTATCTTGGGAAGTGACTTTCAGAGGAATCCCCATGTCGTCGAAACGGGCGCTATGACCCCGTCGGGTGAGAGTCTCTCTGAGCAACCCAAACAGAAGGTACTGCTGTGGGTCCCCCACTTGGCACGCGACGGCGCTGGGTCGGCCTGGCGCGCCCTCCCGCGCCCACGGGCGCTAGGCTAGGTCTGTGCGCAGCCGCTGTCTCCCGAGGTCGGCCCCGCCCCGCGGCGCTCGGCTCGGTGCAGCCCCGGCCCCCCGGGCTGAATGGTACGGCCCCGGCCCCGGCCTCCCCCTCCGCACCCCGCGCGAGTGGTGCGTGCCCCCCAGTGCAGACGCGGAACTGGCGCCCGCTCGGAGCGGCGCCGCGCTGGGGAGCGACTGACGCCCCGCTGCCGGGGGACGTCGGGCTGGGCCTGGCCAGTCCCCCAGAGCTTGGGAGGTAGGAGAGTCTGGGCCGGTGGGGTCCTGGGCGAGCGTCTGGGGACTCCGAGCGGGAGACGGGCTCTGAGAGGACACCGTGGCTCTTGGAGGAAGGGGTCTCTCAGGAGGCCCTGGGGGAGTGTGAAGGGGCGTGGGGACGGGGGTCTGCCGAGGAGGGGCGGGGACGGGGATGGGGGCGCCCCGGGCAGAGGAGGGGGCTCAGGCTACTGGGCTTGGTTCCTGCCGAGCGGGCGGCTCGGGTTCAGGTTCGGGGCGGGGGCGGGGGCGGGGGAGAACTGTCCAGCAGGTGAGGGGGCGGGCAGAGCTGGCCAGCCCTGGGGCCGAACCCGCACAGCGCTTGGCGGGTGTGCTTGTGCGTGTGCGTGCTTGCGCCTTATTTTTGGCTAGAATTTGGA
|
Task1_train_15773
|
This mutation is located in gene MADD (MAP kinase activating death domain) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Deeah syndrome
|
TGATCGTAGGGGCCAGGTAACCAAGAAGAGATTGACTTTTGTCTTAATATCTGGGATAGCCATAAAATCTGCAGTTGTTCCCTTCTCCGATTTCCATGTTGCTTTGCATAGCTCATCTTCTCCTGTTATTTTACCCTGATGGGAGCATCGAAGCCAGTAGGGAAAAAACAAAATCAGGTGGATTGAAAGCAAAACCCTGCTCTTAACTAACATCTTCTTGATGTCGAGCAAATATACTCTTTATACCTCAGTTTTCTTATTTTGTAAAAAGAAAAAGTACATTATAAGCTACTCCTCTATGTATACTTTTTTGGTAATTTATTAGTTAATTCACTTTAAAAGATGTTAATCATCTTAAGGTGCCAGTGATAATTTTATTGTCAAAATCTCCCCTTCGTTTCAGAATAGATGCCTTCATGACAGTGTAGACTTCACTTAGGTTACCAGCTCCATGCGGCAGGCAGCACCCATATTTTCCAAGGTGTTACAGTCAGGTTACTTTATCCAAAATAGCATCTTGAGCTTTATTTGTTGACTGTGGTTAAAATTTGATAGCCCATTCCATCCCTTCAGGCTGCTGAATTTGTCTTTATGTTCTTCAGGCACCCGAGCAGTGATAGCGTGGCCCAGACTCCTGAATTGCTACGGCGATACCCCTTGGAGGATCACACTGAGTTTCCCCTGCCCCCAGATGTAGTGTTCTTCTGCCAGCCCGAGGGCTGCCTGAGCGTGCGGCAGCGGCGCATGAGCCTTCGGGATGATACCTCTTTTGTCTTCACCCTCACTGACAAGGACACTGGAGTCACGCGATATGGCATCTGTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTGGACTGCTGTAGTGAGCGCCTTCTGGGCAAGAAACTGGGCATCCCTCGAGGCGTACAAAGGTACAGTTTGCTGCTGATGCCTAATGGGGGAAGCATTTAGAGATTCCATGTAATTGGTCTTTGAGGGGCATAGGAAATTTCCTCTACAGCTCAAGGTCCTTCAGACCTATTAAGCATATTTAGAGTATTTAGAGTTAATCTTTTTTCTTTTGGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGCCTCCTGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCATGACCAGCTAATTTTGGTATTTTTGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAGGTGGTCCACCCACGTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCATCATCCCCAGCCAAGAGTTAATCTTTACTAAGCAAAAGACTGCTGCAGAGTTAGACCTCTTTCCAAAATTGTGTTTGGAGTAATGCTGGAATTTGGTGTTTTAACTGTGGTTAGGACAGTAAGTCTTACCCAGTATATATCTTTACATTTGCTTTTGCCATTGTATATACTTTCCGGTCCTATCTGAGCTCAGAGACTGGGCTTTCTTAATGATGCTCCGTTTCCCATTGTCATCATTAGAGCCTCTGTGGTGATACTGAGTTGCAGTAGGGTATCAGCTTCTGATGCTAATGTGTCTGATTCCTGCTGTCTGCTTCTCAGGGACACCATGTGGCGGATCTTTACTGGATCGCTGCTGGTAGAGGAGAAGTCAAGTGCCCTTCTGCATGACCTTCGAGAGATTGAGGCCTGGATCTATCGATTGCTGCGCTCCCCAGTACCCGTCTCTGGGCAGAAGCGAGTAGACATCGAGGTCCTACCCCAAGAGCTCCAGCCAGCTCTGACCTTTGCTCTTCCAGACCCATCTCGATTCACCCTAGTGGATTTCCCACTGCACCTTCCCTTGGAACTTCTAGGTGTGGACGCCTGTCTCCAGGTGCTAACCTGCATTCTGTTAGAGCACAAGGTGAGAGGCAAGCTTCCTAGACCTTTCTAGGGGAGAAACTCTTAAATATGCCAGTGGCCAGACCACGAGCTCTTAGAGGACAGGGACTACATATTTTTCACCTTTTTGTCTTCAGGAGGTAACATGATGCCTGGTAAACAGCAGGTGTTCCGTAGATGTGGGTTGAATTAAGATACTGGTATCATGTGGGATGTATTTAGAGGGTTTACCATTCATTAGGGCTTATCCTTAATTGTACTGACCTAATTCTTTGGAAATATCAGTAGTTCTGTTTCAGTGAGTGGTCCTGGGATGGGCAGTACAAGAACTAGGAAGGTAAGGGAGTGATTTGCATATCTCAGGTGACTGAGGATCACCATTGTGCCTGGATTGGGAGGTGGCAGGCATGGTGGGGCAGGGGGCAGTGGGAGAGACAAAGCTGGAGCTGTAGGCTCGATGAAGTGGAAACCAAGTTGTAATGTTGGAAGCTGTTTTCTTGTAAACCATATTTTATGTTTTGGAGTGATTCTTACTGGATGGCTCATGACAGGTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTCTGTGATGGCATTCGTGGCAATGATCTACCCACTGGAGTATATGTTTCCTGTCATCCCGCTGCTACCCACCTGCATGGCATCAGCAGAGCAGGTGAGTCTCAAGGCGACTTCCGGCTTTCTCACCTCTGTCTTCCTGAGGGAGGAGGCTTAATGCTCAAAGAAGTTGTAAGTGAGTGCTGGTCCTCAATCCTTTGTCATAACTTATTTGTCTACAAAATCTGACTGATTTGAACTGATCTGGTGGCAAGGCTTATGCTATTTTAGTTTTCATTTATCACAACAAATGTTAATGACTGTAGGCCACTGGCTACACTGCAGCAGGTGTTACGTGTGTTACGTAATACAGTAGTTCCTCCTTATCTGTGGAGGACACATTCCAAGACCCACCAGTGGATGCCTCAAACCACAGATAGTTCCAAACTCTATAGATACTTTGTTTTTTTCTATACATATATACCGGTGATACCGTTTAATTTATGAATTAGACACAGTAAGAGAGTAACAGTTTTCTCTTTGGGCATATATTTGGTGTTTTTTGGAGACAGAGTCTCCCTCTATCCCCCAGGCTGGAGTACAGTGGCACAATCTCGGCCCACTGGAGCCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACTGCCACCACCACACACCAAATAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCTGGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTCTTTCTACATATATTTGGCTTCTCTTTGGCATATCCCAATTGCCAGCATCAGTACCCTTGTGCTTTGGGGCCATTATTAAGTAAAATAAGGGTTACTTGAACACAAACGCTGAGATTGTGTGACAGTTGATCTGATAACCGAGATGGCTACAGGCTGGACACAGGGGTGATTCATGTCTGGGTGGGACAGAGCGGGACAGCATGAGATTTCATCATGCTTCTCAGAACTATTGTCCTGCACTTCAGATATGATCAAGCTGCAGTTTAAAATTTATGAATTGTTTATTTCTGGAATTTTCCTTTTAATATTTTCAGACTACAGTTTGCCTCAGTTAACTGGAATCACAGAAAGTGAAACTGTGGATAAGAAAGACTACTGTATACAAAAAAATGTACCATGTTACCTTTCAAAAAATCTGAAAAATTCTGAATTTTCAAATACATCTGGCCTCAAGAGTT
|
TGATCGTAGGGGCCAGGTAACCAAGAAGAGATTGACTTTTGTCTTAATATCTGGGATAGCCATAAAATCTGCAGTTGTTCCCTTCTCCGATTTCCATGTTGCTTTGCATAGCTCATCTTCTCCTGTTATTTTACCCTGATGGGAGCATCGAAGCCAGTAGGGAAAAAACAAAATCAGGTGGATTGAAAGCAAAACCCTGCTCTTAACTAACATCTTCTTGATGTCGAGCAAATATACTCTTTATACCTCAGTTTTCTTATTTTGTAAAAAGAAAAAGTACATTATAAGCTACTCCTCTATGTATACTTTTTTGGTAATTTATTAGTTAATTCACTTTAAAAGATGTTAATCATCTTAAGGTGCCAGTGATAATTTTATTGTCAAAATCTCCCCTTCGTTTCAGAATAGATGCCTTCATGACAGTGTAGACTTCACTTAGGTTACCAGCTCCATGCGGCAGGCAGCACCCATATTTTCCAAGGTGTTACAGTCAGGTTACTTTATCCAAAATAGCATCTTGAGCTTTATTTGTTGACTGTGGTTAAAATTTGATAGCCCATTCCATCCCTTCAGGCTGCTGAATTTGTCTTTATGTTCTTCAGGCACCCGAGCAGTGATAGCGTGGCCCAGACTCCTGAATTGCTACGGCGATACCCCTTGGAGGATCACACTGAGTTTCCCCTGCCCCCAGATGTAGTGTTCTTCTGCCAGCCCGAGGGCTGCCTGAGCGTGCGGCAGCGGCGCATGAGCCTTCGGGATGATACCTCTTTTGTCTTCACCCTCACTGACAAGGACACTGGAGTCACGCGATATGGCATCTGTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTGGACTGCTGTAGTGAGCGCCTTCTGGGCAAGAAACTGGGCATCCCTCGAGGCGTACAAAGGTACAGTTTGCTGCTGATGCCTAATGGGGGAAGCATTTAGAGATTCCATGTAATTGGTCTTTGAGGGGCATAGGAAATTTCCTCTACAGCTCAAGGTCCTTCAGACCTATTAAGCATATTTAGAGTATTTAGAGTTAATCTTTTTTCTTTTGGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGCCTCCTGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCATGACCAGCTAATTTTGGTATTTTTGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAGGTGGTCCACCCACGTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCATCATCCCCAGCCAAGAGTTAATCTTTACTAAGCAAAAGACTGCTGCAGAGTTAGACCTCTTTCCAAAATTGTGTTTGGAGTAATGCTGGAATTTGGTGTTTTAACTGTGGTTAGGACAGTAAGTCTTACCCAGTATATATCTTTACATTTGCTTTTGCCATTGTATATACTTTCCGGTCCTATCTGAGCTCAGAGACTGGGCTTTCTTAATGATGCTCCGTTTCCCATTGTCATCATTAGAGCCTCTGTGGTGATACTGAGTTGCAGTAGGGTATCAGCTTCTGATGCTAATGTGTCTGATTCCTGCTGTCTGCTTCTCAGGGACACCATGTGGCGGATCTTTACTGGATCGCTGCTGGTAGAGGAGAAGTCAAGTGCCCTTCTGCATGACCTTCGAGAGATTGAGGCCTGGATCTATCGATTGCTGCGCTTCCCAGTACCCGTCTCTGGGCAGAAGCGAGTAGACATCGAGGTCCTACCCCAAGAGCTCCAGCCAGCTCTGACCTTTGCTCTTCCAGACCCATCTCGATTCACCCTAGTGGATTTCCCACTGCACCTTCCCTTGGAACTTCTAGGTGTGGACGCCTGTCTCCAGGTGCTAACCTGCATTCTGTTAGAGCACAAGGTGAGAGGCAAGCTTCCTAGACCTTTCTAGGGGAGAAACTCTTAAATATGCCAGTGGCCAGACCACGAGCTCTTAGAGGACAGGGACTACATATTTTTCACCTTTTTGTCTTCAGGAGGTAACATGATGCCTGGTAAACAGCAGGTGTTCCGTAGATGTGGGTTGAATTAAGATACTGGTATCATGTGGGATGTATTTAGAGGGTTTACCATTCATTAGGGCTTATCCTTAATTGTACTGACCTAATTCTTTGGAAATATCAGTAGTTCTGTTTCAGTGAGTGGTCCTGGGATGGGCAGTACAAGAACTAGGAAGGTAAGGGAGTGATTTGCATATCTCAGGTGACTGAGGATCACCATTGTGCCTGGATTGGGAGGTGGCAGGCATGGTGGGGCAGGGGGCAGTGGGAGAGACAAAGCTGGAGCTGTAGGCTCGATGAAGTGGAAACCAAGTTGTAATGTTGGAAGCTGTTTTCTTGTAAACCATATTTTATGTTTTGGAGTGATTCTTACTGGATGGCTCATGACAGGTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTCTGTGATGGCATTCGTGGCAATGATCTACCCACTGGAGTATATGTTTCCTGTCATCCCGCTGCTACCCACCTGCATGGCATCAGCAGAGCAGGTGAGTCTCAAGGCGACTTCCGGCTTTCTCACCTCTGTCTTCCTGAGGGAGGAGGCTTAATGCTCAAAGAAGTTGTAAGTGAGTGCTGGTCCTCAATCCTTTGTCATAACTTATTTGTCTACAAAATCTGACTGATTTGAACTGATCTGGTGGCAAGGCTTATGCTATTTTAGTTTTCATTTATCACAACAAATGTTAATGACTGTAGGCCACTGGCTACACTGCAGCAGGTGTTACGTGTGTTACGTAATACAGTAGTTCCTCCTTATCTGTGGAGGACACATTCCAAGACCCACCAGTGGATGCCTCAAACCACAGATAGTTCCAAACTCTATAGATACTTTGTTTTTTTCTATACATATATACCGGTGATACCGTTTAATTTATGAATTAGACACAGTAAGAGAGTAACAGTTTTCTCTTTGGGCATATATTTGGTGTTTTTTGGAGACAGAGTCTCCCTCTATCCCCCAGGCTGGAGTACAGTGGCACAATCTCGGCCCACTGGAGCCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACTGCCACCACCACACACCAAATAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCTGGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTCTTTCTACATATATTTGGCTTCTCTTTGGCATATCCCAATTGCCAGCATCAGTACCCTTGTGCTTTGGGGCCATTATTAAGTAAAATAAGGGTTACTTGAACACAAACGCTGAGATTGTGTGACAGTTGATCTGATAACCGAGATGGCTACAGGCTGGACACAGGGGTGATTCATGTCTGGGTGGGACAGAGCGGGACAGCATGAGATTTCATCATGCTTCTCAGAACTATTGTCCTGCACTTCAGATATGATCAAGCTGCAGTTTAAAATTTATGAATTGTTTATTTCTGGAATTTTCCTTTTAATATTTTCAGACTACAGTTTGCCTCAGTTAACTGGAATCACAGAAAGTGAAACTGTGGATAAGAAAGACTACTGTATACAAAAAAATGTACCATGTTACCTTTCAAAAAATCTGAAAAATTCTGAATTTTCAAATACATCTGGCCTCAAGAGTT
|
Task1_train_15774
|
Chromosome 11 houses a mutation in gene MADD (MAP kinase activating death domain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Deeah syndrome
|
GCATCGAAGCCAGTAGGGAAAAAACAAAATCAGGTGGATTGAAAGCAAAACCCTGCTCTTAACTAACATCTTCTTGATGTCGAGCAAATATACTCTTTATACCTCAGTTTTCTTATTTTGTAAAAAGAAAAAGTACATTATAAGCTACTCCTCTATGTATACTTTTTTGGTAATTTATTAGTTAATTCACTTTAAAAGATGTTAATCATCTTAAGGTGCCAGTGATAATTTTATTGTCAAAATCTCCCCTTCGTTTCAGAATAGATGCCTTCATGACAGTGTAGACTTCACTTAGGTTACCAGCTCCATGCGGCAGGCAGCACCCATATTTTCCAAGGTGTTACAGTCAGGTTACTTTATCCAAAATAGCATCTTGAGCTTTATTTGTTGACTGTGGTTAAAATTTGATAGCCCATTCCATCCCTTCAGGCTGCTGAATTTGTCTTTATGTTCTTCAGGCACCCGAGCAGTGATAGCGTGGCCCAGACTCCTGAATTGCTACGGCGATACCCCTTGGAGGATCACACTGAGTTTCCCCTGCCCCCAGATGTAGTGTTCTTCTGCCAGCCCGAGGGCTGCCTGAGCGTGCGGCAGCGGCGCATGAGCCTTCGGGATGATACCTCTTTTGTCTTCACCCTCACTGACAAGGACACTGGAGTCACGCGATATGGCATCTGTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTGGACTGCTGTAGTGAGCGCCTTCTGGGCAAGAAACTGGGCATCCCTCGAGGCGTACAAAGGTACAGTTTGCTGCTGATGCCTAATGGGGGAAGCATTTAGAGATTCCATGTAATTGGTCTTTGAGGGGCATAGGAAATTTCCTCTACAGCTCAAGGTCCTTCAGACCTATTAAGCATATTTAGAGTATTTAGAGTTAATCTTTTTTCTTTTGGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGCCTCCTGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCATGACCAGCTAATTTTGGTATTTTTGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAGGTGGTCCACCCACGTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCATCATCCCCAGCCAAGAGTTAATCTTTACTAAGCAAAAGACTGCTGCAGAGTTAGACCTCTTTCCAAAATTGTGTTTGGAGTAATGCTGGAATTTGGTGTTTTAACTGTGGTTAGGACAGTAAGTCTTACCCAGTATATATCTTTACATTTGCTTTTGCCATTGTATATACTTTCCGGTCCTATCTGAGCTCAGAGACTGGGCTTTCTTAATGATGCTCCGTTTCCCATTGTCATCATTAGAGCCTCTGTGGTGATACTGAGTTGCAGTAGGGTATCAGCTTCTGATGCTAATGTGTCTGATTCCTGCTGTCTGCTTCTCAGGGACACCATGTGGCGGATCTTTACTGGATCGCTGCTGGTAGAGGAGAAGTCAAGTGCCCTTCTGCATGACCTTCGAGAGATTGAGGCCTGGATCTATCGATTGCTGCGCTCCCCAGTACCCGTCTCTGGGCAGAAGCGAGTAGACATCGAGGTCCTACCCCAAGAGCTCCAGCCAGCTCTGACCTTTGCTCTTCCAGACCCATCTCGATTCACCCTAGTGGATTTCCCACTGCACCTTCCCTTGGAACTTCTAGGTGTGGACGCCTGTCTCCAGGTGCTAACCTGCATTCTGTTAGAGCACAAGGTGAGAGGCAAGCTTCCTAGACCTTTCTAGGGGAGAAACTCTTAAATATGCCAGTGGCCAGACCACGAGCTCTTAGAGGACAGGGACTACATATTTTTCACCTTTTTGTCTTCAGGAGGTAACATGATGCCTGGTAAACAGCAGGTGTTCCGTAGATGTGGGTTGAATTAAGATACTGGTATCATGTGGGATGTATTTAGAGGGTTTACCATTCATTAGGGCTTATCCTTAATTGTACTGACCTAATTCTTTGGAAATATCAGTAGTTCTGTTTCAGTGAGTGGTCCTGGGATGGGCAGTACAAGAACTAGGAAGGTAAGGGAGTGATTTGCATATCTCAGGTGACTGAGGATCACCATTGTGCCTGGATTGGGAGGTGGCAGGCATGGTGGGGCAGGGGGCAGTGGGAGAGACAAAGCTGGAGCTGTAGGCTCGATGAAGTGGAAACCAAGTTGTAATGTTGGAAGCTGTTTTCTTGTAAACCATATTTTATGTTTTGGAGTGATTCTTACTGGATGGCTCATGACAGGTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTCTGTGATGGCATTCGTGGCAATGATCTACCCACTGGAGTATATGTTTCCTGTCATCCCGCTGCTACCCACCTGCATGGCATCAGCAGAGCAGGTGAGTCTCAAGGCGACTTCCGGCTTTCTCACCTCTGTCTTCCTGAGGGAGGAGGCTTAATGCTCAAAGAAGTTGTAAGTGAGTGCTGGTCCTCAATCCTTTGTCATAACTTATTTGTCTACAAAATCTGACTGATTTGAACTGATCTGGTGGCAAGGCTTATGCTATTTTAGTTTTCATTTATCACAACAAATGTTAATGACTGTAGGCCACTGGCTACACTGCAGCAGGTGTTACGTGTGTTACGTAATACAGTAGTTCCTCCTTATCTGTGGAGGACACATTCCAAGACCCACCAGTGGATGCCTCAAACCACAGATAGTTCCAAACTCTATAGATACTTTGTTTTTTTCTATACATATATACCGGTGATACCGTTTAATTTATGAATTAGACACAGTAAGAGAGTAACAGTTTTCTCTTTGGGCATATATTTGGTGTTTTTTGGAGACAGAGTCTCCCTCTATCCCCCAGGCTGGAGTACAGTGGCACAATCTCGGCCCACTGGAGCCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACTGCCACCACCACACACCAAATAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCTGGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTCTTTCTACATATATTTGGCTTCTCTTTGGCATATCCCAATTGCCAGCATCAGTACCCTTGTGCTTTGGGGCCATTATTAAGTAAAATAAGGGTTACTTGAACACAAACGCTGAGATTGTGTGACAGTTGATCTGATAACCGAGATGGCTACAGGCTGGACACAGGGGTGATTCATGTCTGGGTGGGACAGAGCGGGACAGCATGAGATTTCATCATGCTTCTCAGAACTATTGTCCTGCACTTCAGATATGATCAAGCTGCAGTTTAAAATTTATGAATTGTTTATTTCTGGAATTTTCCTTTTAATATTTTCAGACTACAGTTTGCCTCAGTTAACTGGAATCACAGAAAGTGAAACTGTGGATAAGAAAGACTACTGTATACAAAAAAATGTACCATGTTACCTTTCAAAAAATCTGAAAAATTCTGAATTTTCAAATACATCTGGCCTCAAGAGTTTTGGAAGAGGGATTGTATCTGCATTTCCTTATCTAGAAGAATCCAGACTTGATAAGTGCTCATGATAGGTTTTGTCTTTGTTTCTCACCTTCTTTATCATTTCCACAGCTGCTGTTGGCTCCAACCCCGTACATCATTGGGGTT
|
GCATCGAAGCCAGTAGGGAAAAAACAAAATCAGGTGGATTGAAAGCAAAACCCTGCTCTTAACTAACATCTTCTTGATGTCGAGCAAATATACTCTTTATACCTCAGTTTTCTTATTTTGTAAAAAGAAAAAGTACATTATAAGCTACTCCTCTATGTATACTTTTTTGGTAATTTATTAGTTAATTCACTTTAAAAGATGTTAATCATCTTAAGGTGCCAGTGATAATTTTATTGTCAAAATCTCCCCTTCGTTTCAGAATAGATGCCTTCATGACAGTGTAGACTTCACTTAGGTTACCAGCTCCATGCGGCAGGCAGCACCCATATTTTCCAAGGTGTTACAGTCAGGTTACTTTATCCAAAATAGCATCTTGAGCTTTATTTGTTGACTGTGGTTAAAATTTGATAGCCCATTCCATCCCTTCAGGCTGCTGAATTTGTCTTTATGTTCTTCAGGCACCCGAGCAGTGATAGCGTGGCCCAGACTCCTGAATTGCTACGGCGATACCCCTTGGAGGATCACACTGAGTTTCCCCTGCCCCCAGATGTAGTGTTCTTCTGCCAGCCCGAGGGCTGCCTGAGCGTGCGGCAGCGGCGCATGAGCCTTCGGGATGATACCTCTTTTGTCTTCACCCTCACTGACAAGGACACTGGAGTCACGCGATATGGCATCTGTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTGGACTGCTGTAGTGAGCGCCTTCTGGGCAAGAAACTGGGCATCCCTCGAGGCGTACAAAGGTACAGTTTGCTGCTGATGCCTAATGGGGGAAGCATTTAGAGATTCCATGTAATTGGTCTTTGAGGGGCATAGGAAATTTCCTCTACAGCTCAAGGTCCTTCAGACCTATTAAGCATATTTAGAGTATTTAGAGTTAATCTTTTTTCTTTTGGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGCCTCCTGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCATGACCAGCTAATTTTGGTATTTTTGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAGGTGGTCCACCCACGTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCATCATCCCCAGCCAAGAGTTAATCTTTACTAAGCAAAAGACTGCTGCAGAGTTAGACCTCTTTCCAAAATTGTGTTTGGAGTAATGCTGGAATTTGGTGTTTTAACTGTGGTTAGGACAGTAAGTCTTACCCAGTATATATCTTTACATTTGCTTTTGCCATTGTATATACTTTCCGGTCCTATCTGAGCTCAGAGACTGGGCTTTCTTAATGATGCTCCGTTTCCCATTGTCATCATTAGAGCCTCTGTGGTGATACTGAGTTGCAGTAGGGTATCAGCTTCTGATGCTAATGTGTCTGATTCCTGCTGTCTGCTTCTCAGGGACACCATGTGGCGGATCTTTACTGGATCGCTGCTGGTAGAGGAGAAGTCAAGTGCCCTTCTGCATGACCTTCGAGAGATTGAGGCCTGGATCTATCGATTGCTGCGCTCCCCAGTACCCGTCTCTGGGCAGAAGCGAGTAGACATCGAGGTCCTACCCCAAGAGCTCCAGCCAGCTCTGACCTTTGCTCTTCCAGACCCATCTCGATTCACCCTAGTGGATTTCCCACTGCACCTTCCCTTGGAACTTCTAGTTGTGGACGCCTGTCTCCAGGTGCTAACCTGCATTCTGTTAGAGCACAAGGTGAGAGGCAAGCTTCCTAGACCTTTCTAGGGGAGAAACTCTTAAATATGCCAGTGGCCAGACCACGAGCTCTTAGAGGACAGGGACTACATATTTTTCACCTTTTTGTCTTCAGGAGGTAACATGATGCCTGGTAAACAGCAGGTGTTCCGTAGATGTGGGTTGAATTAAGATACTGGTATCATGTGGGATGTATTTAGAGGGTTTACCATTCATTAGGGCTTATCCTTAATTGTACTGACCTAATTCTTTGGAAATATCAGTAGTTCTGTTTCAGTGAGTGGTCCTGGGATGGGCAGTACAAGAACTAGGAAGGTAAGGGAGTGATTTGCATATCTCAGGTGACTGAGGATCACCATTGTGCCTGGATTGGGAGGTGGCAGGCATGGTGGGGCAGGGGGCAGTGGGAGAGACAAAGCTGGAGCTGTAGGCTCGATGAAGTGGAAACCAAGTTGTAATGTTGGAAGCTGTTTTCTTGTAAACCATATTTTATGTTTTGGAGTGATTCTTACTGGATGGCTCATGACAGGTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTCTGTGATGGCATTCGTGGCAATGATCTACCCACTGGAGTATATGTTTCCTGTCATCCCGCTGCTACCCACCTGCATGGCATCAGCAGAGCAGGTGAGTCTCAAGGCGACTTCCGGCTTTCTCACCTCTGTCTTCCTGAGGGAGGAGGCTTAATGCTCAAAGAAGTTGTAAGTGAGTGCTGGTCCTCAATCCTTTGTCATAACTTATTTGTCTACAAAATCTGACTGATTTGAACTGATCTGGTGGCAAGGCTTATGCTATTTTAGTTTTCATTTATCACAACAAATGTTAATGACTGTAGGCCACTGGCTACACTGCAGCAGGTGTTACGTGTGTTACGTAATACAGTAGTTCCTCCTTATCTGTGGAGGACACATTCCAAGACCCACCAGTGGATGCCTCAAACCACAGATAGTTCCAAACTCTATAGATACTTTGTTTTTTTCTATACATATATACCGGTGATACCGTTTAATTTATGAATTAGACACAGTAAGAGAGTAACAGTTTTCTCTTTGGGCATATATTTGGTGTTTTTTGGAGACAGAGTCTCCCTCTATCCCCCAGGCTGGAGTACAGTGGCACAATCTCGGCCCACTGGAGCCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACTGCCACCACCACACACCAAATAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCTGGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTCTTTCTACATATATTTGGCTTCTCTTTGGCATATCCCAATTGCCAGCATCAGTACCCTTGTGCTTTGGGGCCATTATTAAGTAAAATAAGGGTTACTTGAACACAAACGCTGAGATTGTGTGACAGTTGATCTGATAACCGAGATGGCTACAGGCTGGACACAGGGGTGATTCATGTCTGGGTGGGACAGAGCGGGACAGCATGAGATTTCATCATGCTTCTCAGAACTATTGTCCTGCACTTCAGATATGATCAAGCTGCAGTTTAAAATTTATGAATTGTTTATTTCTGGAATTTTCCTTTTAATATTTTCAGACTACAGTTTGCCTCAGTTAACTGGAATCACAGAAAGTGAAACTGTGGATAAGAAAGACTACTGTATACAAAAAAATGTACCATGTTACCTTTCAAAAAATCTGAAAAATTCTGAATTTTCAAATACATCTGGCCTCAAGAGTTTTGGAAGAGGGATTGTATCTGCATTTCCTTATCTAGAAGAATCCAGACTTGATAAGTGCTCATGATAGGTTTTGTCTTTGTTTCTCACCTTCTTTATCATTTCCACAGCTGCTGTTGGCTCCAACCCCGTACATCATTGGGGTT
|
Task1_train_15775
|
The gene MADD (MAP kinase activating death domain) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
|
GTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTGGACTGCTGTAGTGAGCGCCTTCTGGGCAAGAAACTGGGCATCCCTCGAGGCGTACAAAGGTACAGTTTGCTGCTGATGCCTAATGGGGGAAGCATTTAGAGATTCCATGTAATTGGTCTTTGAGGGGCATAGGAAATTTCCTCTACAGCTCAAGGTCCTTCAGACCTATTAAGCATATTTAGAGTATTTAGAGTTAATCTTTTTTCTTTTGGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGCCTCCTGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCATGACCAGCTAATTTTGGTATTTTTGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAGGTGGTCCACCCACGTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCATCATCCCCAGCCAAGAGTTAATCTTTACTAAGCAAAAGACTGCTGCAGAGTTAGACCTCTTTCCAAAATTGTGTTTGGAGTAATGCTGGAATTTGGTGTTTTAACTGTGGTTAGGACAGTAAGTCTTACCCAGTATATATCTTTACATTTGCTTTTGCCATTGTATATACTTTCCGGTCCTATCTGAGCTCAGAGACTGGGCTTTCTTAATGATGCTCCGTTTCCCATTGTCATCATTAGAGCCTCTGTGGTGATACTGAGTTGCAGTAGGGTATCAGCTTCTGATGCTAATGTGTCTGATTCCTGCTGTCTGCTTCTCAGGGACACCATGTGGCGGATCTTTACTGGATCGCTGCTGGTAGAGGAGAAGTCAAGTGCCCTTCTGCATGACCTTCGAGAGATTGAGGCCTGGATCTATCGATTGCTGCGCTCCCCAGTACCCGTCTCTGGGCAGAAGCGAGTAGACATCGAGGTCCTACCCCAAGAGCTCCAGCCAGCTCTGACCTTTGCTCTTCCAGACCCATCTCGATTCACCCTAGTGGATTTCCCACTGCACCTTCCCTTGGAACTTCTAGGTGTGGACGCCTGTCTCCAGGTGCTAACCTGCATTCTGTTAGAGCACAAGGTGAGAGGCAAGCTTCCTAGACCTTTCTAGGGGAGAAACTCTTAAATATGCCAGTGGCCAGACCACGAGCTCTTAGAGGACAGGGACTACATATTTTTCACCTTTTTGTCTTCAGGAGGTAACATGATGCCTGGTAAACAGCAGGTGTTCCGTAGATGTGGGTTGAATTAAGATACTGGTATCATGTGGGATGTATTTAGAGGGTTTACCATTCATTAGGGCTTATCCTTAATTGTACTGACCTAATTCTTTGGAAATATCAGTAGTTCTGTTTCAGTGAGTGGTCCTGGGATGGGCAGTACAAGAACTAGGAAGGTAAGGGAGTGATTTGCATATCTCAGGTGACTGAGGATCACCATTGTGCCTGGATTGGGAGGTGGCAGGCATGGTGGGGCAGGGGGCAGTGGGAGAGACAAAGCTGGAGCTGTAGGCTCGATGAAGTGGAAACCAAGTTGTAATGTTGGAAGCTGTTTTCTTGTAAACCATATTTTATGTTTTGGAGTGATTCTTACTGGATGGCTCATGACAGGTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTCTGTGATGGCATTCGTGGCAATGATCTACCCACTGGAGTATATGTTTCCTGTCATCCCGCTGCTACCCACCTGCATGGCATCAGCAGAGCAGGTGAGTCTCAAGGCGACTTCCGGCTTTCTCACCTCTGTCTTCCTGAGGGAGGAGGCTTAATGCTCAAAGAAGTTGTAAGTGAGTGCTGGTCCTCAATCCTTTGTCATAACTTATTTGTCTACAAAATCTGACTGATTTGAACTGATCTGGTGGCAAGGCTTATGCTATTTTAGTTTTCATTTATCACAACAAATGTTAATGACTGTAGGCCACTGGCTACACTGCAGCAGGTGTTACGTGTGTTACGTAATACAGTAGTTCCTCCTTATCTGTGGAGGACACATTCCAAGACCCACCAGTGGATGCCTCAAACCACAGATAGTTCCAAACTCTATAGATACTTTGTTTTTTTCTATACATATATACCGGTGATACCGTTTAATTTATGAATTAGACACAGTAAGAGAGTAACAGTTTTCTCTTTGGGCATATATTTGGTGTTTTTTGGAGACAGAGTCTCCCTCTATCCCCCAGGCTGGAGTACAGTGGCACAATCTCGGCCCACTGGAGCCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACTGCCACCACCACACACCAAATAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCTGGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTCTTTCTACATATATTTGGCTTCTCTTTGGCATATCCCAATTGCCAGCATCAGTACCCTTGTGCTTTGGGGCCATTATTAAGTAAAATAAGGGTTACTTGAACACAAACGCTGAGATTGTGTGACAGTTGATCTGATAACCGAGATGGCTACAGGCTGGACACAGGGGTGATTCATGTCTGGGTGGGACAGAGCGGGACAGCATGAGATTTCATCATGCTTCTCAGAACTATTGTCCTGCACTTCAGATATGATCAAGCTGCAGTTTAAAATTTATGAATTGTTTATTTCTGGAATTTTCCTTTTAATATTTTCAGACTACAGTTTGCCTCAGTTAACTGGAATCACAGAAAGTGAAACTGTGGATAAGAAAGACTACTGTATACAAAAAAATGTACCATGTTACCTTTCAAAAAATCTGAAAAATTCTGAATTTTCAAATACATCTGGCCTCAAGAGTTTTGGAAGAGGGATTGTATCTGCATTTCCTTATCTAGAAGAATCCAGACTTGATAAGTGCTCATGATAGGTTTTGTCTTTGTTTCTCACCTTCTTTATCATTTCCACAGCTGCTGTTGGCTCCAACCCCGTACATCATTGGGGTTCCTGCCAGCTTCTTCCTCTACAAACTGGACTTCAAAATGCCTGATGATGTATGGCTAGTGGATCTGGACAGCAATAGGGTGAGGTTCTTGGCTGAGGCATTGTAGAGTCTAGAGGAGGATTGCATTCTAGACCCAGTCCTGAGATATCTGTTTCTAGATTCCTTTCAGGAACGTCCTAAGTTGTTGGATAATTTCTATTGCGAGACTTACTGAAACAAGTTTTTTTAAATGCTCCTTTTACCTTATTAGCCAAATAAACCCTTGGTTAGGTCTCAGAGAATTACAGGATTTATTTTTGCCAGAATTAAGTGACCCCCCACCATATCCTCCAAGAGCAGTCAGACAGTTGTGATCTGAGGGCCATTACATGTGGTATAGATCATCTCTTAATGGTTTCCCTGGGGTATAGTTTCCAGTAAGAAACTGTCTTTCAGTGCAGGCTTAATTAATTATATGACCATTCTGCAATGTGAATACATTCAGACTTTGGTGGGAAGCCCTTATGTGTGCTCATTGTAAAACTTAAAAAAAATAAAAATAAGCGTAAATAAAATAAGTGAAAAGAAAAACCATAATCCTTTTATCTAGAGATAATAACCAATAACATTAAGTTATATTTCATTTCAGATGCATATGTATGTCATATATGTGTGTACATATATCTTACTGTGCAGTT
|
GTGTTAACTTCTACCGCTCCTTCCAAAAGCGAATCTCTAAGGAGAAGGGGGAAGGTGGGGCAGGGTCCCGTGGGAAGGAAGGAACCCATGCCACCTGTGCCTCAGAAGAGGGTGGCACTGAGAGCTCAGAGAGTGGCTCATCCCTGCAGCCTCTCAGTGCTGACTCTACCCCTGATGTGAACCAGTCTCCTCGGGGCAAACGCCGGGCCAAGGCGGGGAGCCGCTCCCGCAACAGTACTCTCACGTCCCTGTGCGTGCTCAGCCACTACCCTTTCTTCTCCACCTTCCGAGAGTGTTTGTATACTCTCAAGCGCCTGGTGGACTGCTGTAGTGAGCGCCTTCTGGGCAAGAAACTGGGCATCCCTCGAGGCGTACAAAGGTACAGTTTGCTGCTGATGCCTAATGGGGGAAGCATTTAGAGATTCCATGTAATTGGTCTTTGAGGGGCATAGGAAATTTCCTCTACAGCTCAAGGTCCTTCAGACCTATTAAGCATATTTAGAGTATTTAGAGTTAATCTTTTTTCTTTTGGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCCCTGCCTCCTGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCATGACCAGCTAATTTTGGTATTTTTGTAGAGACAAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTCAGGTGGTCCACCCACGTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCATCATCCCCAGCCAAGAGTTAATCTTTACTAAGCAAAAGACTGCTGCAGAGTTAGACCTCTTTCCAAAATTGTGTTTGGAGTAATGCTGGAATTTGGTGTTTTAACTGTGGTTAGGACAGTAAGTCTTACCCAGTATATATCTTTACATTTGCTTTTGCCATTGTATATACTTTCCGGTCCTATCTGAGCTCAGAGACTGGGCTTTCTTAATGATGCTCCGTTTCCCATTGTCATCATTAGAGCCTCTGTGGTGATACTGAGTTGCAGTAGGGTATCAGCTTCTGATGCTAATGTGTCTGATTCCTGCTGTCTGCTTCTCAGGGACACCATGTGGCGGATCTTTACTGGATCGCTGCTGGTAGAGGAGAAGTCAAGTGCCCTTCTGCATGACCTTCGAGAGATTGAGGCCTGGATCTATCGATTGCTGCGCTCCCCAGTACCCGTCTCTGGGCAGAAGCGAGTAGACATCGAGGTCCTACCCCAAGAGCTCCAGCCAGCTCTGACCTTTGCTCTTCCAGACCCATCTCGATTCACCCTAGTGGATTTCCCACTGCACCTTCCCTTGGAACTTCTAGGTGTGGACGCCTGTCTCCAGGTGCTAACCTGCATTCTGTTAGAGCACAAGGTGAGAGGCAAGCTTCCTAGACCTTTCTAGGGGAGAAACTCTTAAATATGCCAGTGGCCAGACCACGAGCTCTTAGAGGACAGGGACTACATATTTTTCACCTTTTTGTCTTCAGGAGGTAACATGATGCCTGGTAAACAGCAGGTGTTCCGTAGATGTGGGTTGAATTAAGATACTGGTATCATGTGGGATGTATTTAGAGGGTTTACCATTCATTAGGGCTTATCCTTAATTGTACTGACCTAATTCTTTGGAAATATCAGTAGTTCTGTTTCAGTGAGTGGTCCTGGGATGGGCAGTACAAGAACTAGGAAGGTAAGGGAGTGATTTGCATATCTCAGGTGACTGAGGATCACCATTGTGCCTGGATTGGGAGGTGGCAGGCATGGTGGGGCAGGGGGCAGTGGGAGAGACAAAGCTGGAGCTGTAGGCTCGATGAAGTGGAAACCAAGTTGTAATGTTGGAAGCTGTTTTCTTGTAAACCATATTTTATGTTTTGGAGTGATTCTTACTGGATGGCTCATGACAGGTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTCTGTGATGGCATTCGTGGCAATGATCTACCCACTGGAGTATATGTTTCCTGTCATCCTGCTGCTACCCACCTGCATGGCATCAGCAGAGCAGGTGAGTCTCAAGGCGACTTCCGGCTTTCTCACCTCTGTCTTCCTGAGGGAGGAGGCTTAATGCTCAAAGAAGTTGTAAGTGAGTGCTGGTCCTCAATCCTTTGTCATAACTTATTTGTCTACAAAATCTGACTGATTTGAACTGATCTGGTGGCAAGGCTTATGCTATTTTAGTTTTCATTTATCACAACAAATGTTAATGACTGTAGGCCACTGGCTACACTGCAGCAGGTGTTACGTGTGTTACGTAATACAGTAGTTCCTCCTTATCTGTGGAGGACACATTCCAAGACCCACCAGTGGATGCCTCAAACCACAGATAGTTCCAAACTCTATAGATACTTTGTTTTTTTCTATACATATATACCGGTGATACCGTTTAATTTATGAATTAGACACAGTAAGAGAGTAACAGTTTTCTCTTTGGGCATATATTTGGTGTTTTTTGGAGACAGAGTCTCCCTCTATCCCCCAGGCTGGAGTACAGTGGCACAATCTCGGCCCACTGGAGCCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACTGCCACCACCACACACCAAATAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCTGGGCTGGTCTTGAACTCTTGACCTTAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTCTTTCTACATATATTTGGCTTCTCTTTGGCATATCCCAATTGCCAGCATCAGTACCCTTGTGCTTTGGGGCCATTATTAAGTAAAATAAGGGTTACTTGAACACAAACGCTGAGATTGTGTGACAGTTGATCTGATAACCGAGATGGCTACAGGCTGGACACAGGGGTGATTCATGTCTGGGTGGGACAGAGCGGGACAGCATGAGATTTCATCATGCTTCTCAGAACTATTGTCCTGCACTTCAGATATGATCAAGCTGCAGTTTAAAATTTATGAATTGTTTATTTCTGGAATTTTCCTTTTAATATTTTCAGACTACAGTTTGCCTCAGTTAACTGGAATCACAGAAAGTGAAACTGTGGATAAGAAAGACTACTGTATACAAAAAAATGTACCATGTTACCTTTCAAAAAATCTGAAAAATTCTGAATTTTCAAATACATCTGGCCTCAAGAGTTTTGGAAGAGGGATTGTATCTGCATTTCCTTATCTAGAAGAATCCAGACTTGATAAGTGCTCATGATAGGTTTTGTCTTTGTTTCTCACCTTCTTTATCATTTCCACAGCTGCTGTTGGCTCCAACCCCGTACATCATTGGGGTTCCTGCCAGCTTCTTCCTCTACAAACTGGACTTCAAAATGCCTGATGATGTATGGCTAGTGGATCTGGACAGCAATAGGGTGAGGTTCTTGGCTGAGGCATTGTAGAGTCTAGAGGAGGATTGCATTCTAGACCCAGTCCTGAGATATCTGTTTCTAGATTCCTTTCAGGAACGTCCTAAGTTGTTGGATAATTTCTATTGCGAGACTTACTGAAACAAGTTTTTTTAAATGCTCCTTTTACCTTATTAGCCAAATAAACCCTTGGTTAGGTCTCAGAGAATTACAGGATTTATTTTTGCCAGAATTAAGTGACCCCCCACCATATCCTCCAAGAGCAGTCAGACAGTTGTGATCTGAGGGCCATTACATGTGGTATAGATCATCTCTTAATGGTTTCCCTGGGGTATAGTTTCCAGTAAGAAACTGTCTTTCAGTGCAGGCTTAATTAATTATATGACCATTCTGCAATGTGAATACATTCAGACTTTGGTGGGAAGCCCTTATGTGTGCTCATTGTAAAACTTAAAAAAAATAAAAATAAGCGTAAATAAAATAAGTGAAAAGAAAAACCATAATCCTTTTATCTAGAGATAATAACCAATAACATTAAGTTATATTTCATTTCAGATGCATATGTATGTCATATATGTGTGTACATATATCTTACTGTGCAGTT
|
Task1_train_15776
|
This variant affects gene MYBPC3 (myosin binding protein C3) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Hypertrophic cardiomyopathy
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15777
|
Here’s a variant in MYBPC3 (myosin binding protein C3) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Cardiomyopathy
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15778
|
Given this variant in gene MYBPC3 (myosin binding protein C3) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Left ventricular noncompaction 10
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15779
|
A variant was discovered in gene MYBPC3 (myosin binding protein C3), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Hypertrophic cardiomyopathy 4
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15780
|
A mutation on Chromosome 11 affecting MYBPC3 (myosin binding protein C3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; MYBPC3-related disorder
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15781
|
Assess the clinical impact of this variant on gene MYBPC3 (myosin binding protein C3), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Cardiovascular phenotype
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15782
|
This sequence change occurs on Chromosome 11, altering MYBPC3 (myosin binding protein C3). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Hypertrophic cardiomyopathy 1
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15783
|
This mutation is located in gene MYBPC3 (myosin binding protein C3) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Hypertrophic cardiomyopathy 4
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15784
|
This alteration occurs within gene MYBPC3 (myosin binding protein C3) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Left ventricular noncompaction 10
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
GGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACGCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCA
|
Task1_train_15785
|
A sequence alteration has been identified in MYBPC3 (myosin binding protein C3) on Chromosome 11. Is it disease-inducing or harmless?
|
Pathogenic; Hypertrophic cardiomyopathy 4
|
AAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGG
|
AAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCACGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGG
|
Task1_train_15786
|
The gene MYBPC3 (myosin binding protein C3), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Hypertrophic cardiomyopathy
|
GAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACCTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG
|
GAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGCTTTTTAATGTGCCTTCAGAGGTAGGCAGCGTAAAAGTGATTTCTACATCAAAGCATCTCCTTGGCTGGGCCCTTGGAGACTGGGCAGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGCATCTGCCTCTCTGTCCACCTGTCTTTATCTCTCTCTCTCTGTTTCTCCCTGTGTCTCTCTCTGTCTCCATCTCAGTCTCCACCTGTCCCATCCACCTGCCCTGCACACTCACCGCCCGATGTGGGACACCTTTATGCGGCTGTCGGGCACCAGCTCCTTCCCATTCTTCAGCCACACACCCCGAACATTCTCATCTGAGACCTCACATTTGAACACCGCCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAGGCTGTCAAAGGCCCAAGGTCACAGAGGCCTTGAGCCCAGGTTTGCCTGCTCCCCTACAGGGCTAGGTGGGGTGGGGGCTGAGGGGTCCAAGCCCTAAAGCCTCATGTGCCCCCCCAGCCAGGCTCACCCTGCACAATGAGCTCAGCCAGCGCCTGGCCCCCGCTAGTGCACAGTGCATAGTGCCCCGCGTCCTCCAGCATGGCCTCGTTGATGATCAGGTGGTGTCTCTGCCCGTCCTTCTTGAACCGGTATTTGAAGGTCTCCTCCCGGGTCAGCTCCACCCCGTCCTTCAGCCTAGCCGGGTGGGTGGGTGGCAAGTGCTGTGGCCTCTTCTGGGCAGATGCCCCCAACACCCATGCCCCGTGCTTCTGGAACTCACCATTTGACTTGCGCCCCCTCCTCCGATACTTCACACTCAAACTCCACCCGCTGCCCCACCATCACCAGCTGGTCCTCCAAGGGGCGCGTGATGAGCACAGGGGGCTCTGTCCAGGCAGGGTGAGCATGAGGGTTGGCTCCCCTGAGGCCATCTCCTCCCCAGGTTCCCACATCCTCAGGTCCCAGGCCCACGTTTCACAAAGAGCTCCGTGCTACACTTCTCGCCACCCACCACGCACTGGTAGGCTGCGTCGTCCGCCAATGAGCACTGGCTGATGGTCAGGGTACGCTTGGCACCGATGGACTCAAAGATGTACCTGGGTGGGGGCCGCAGGGAAGTGGCAGGAAAGCTGCGGACACCCCTCCGGGCCCAGTGCGCCCCATGATAATCCCTGTGCCCCCCACCCCAAGCCATCCAGAGGGGAACTTACTTGCTGTAGAACAGAAGGGGCCGTTGAAGTGTTCCCGACGGGAGGAAGTGAGCCCGAGACAAAAGGAGAGAGAGAGAGGGACCGGCAGGAGCAAAAGGATGGGAAATTAGGCCCAGAGAGATGGGGCTGAGAGCCACACCGAGTCAGAGATACGCATGTGGAGAGGGGCAGGAGGCAAGGCTATGGGGGTCCCCACCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGTGGCTGGGGCCCAGGTCCCCCCCTCCAATCCCCTCTGTGCCGCCCCGCTTCCACTTCTCTGTGTCTCTATTTCTTTTTGTTTTGTTTGTTTGTCTGTTTGTTTGTTTTTTGGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCGGGCTGGTCTTGAAATCCTGACCTCAGGTGATGCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGGTGTCTTCATTTCTTTATCTGTGTCTATGTGTCAACCCACCTCCTTGTCTCTGTCTGTCTGACCTTGTCCTTCTGTCTTCCTTGGGGTCCTCTCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG
|
Task1_train_15787
|
This mutation is located in gene MYBPC3 (myosin binding protein C3) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Primary familial hypertrophic cardiomyopathy
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGGAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
Task1_train_15788
|
Here is a variant affecting MYBPC3 (myosin binding protein C3) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Hypertrophic cardiomyopathy
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGGAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
Task1_train_15789
|
A genetic alteration is present in MYBPC3 (myosin binding protein C3) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Cardiomyopathy
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGGAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
Task1_train_15790
|
An alteration has been detected in MYBPC3 (myosin binding protein C3) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Hypertrophic cardiomyopathy 4
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGGAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
Task1_train_15791
|
Assess the clinical impact of this variant on gene MYBPC3 (myosin binding protein C3), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Cardiovascular phenotype
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
CCAGGACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCACTCCCTGTGTTGTGGGGCACCCATGCTGCTCCGGAGGCTCTGGCAGGACCTCCTGTGTGCATTACTTTTTCTTATCCCTCCTAAGCTCTGACAGATAGGTGGGTGGCAGGAGAAGCCCAAGGCACAGAGACTCACCCCTGTCCGTGGGGAGCCGCACCCTGCTCTGAGTCTCTCACCACAGCCTCTCAGAGAGGGGACGGGAATCCCCTCTGCACCCACCAGCGCCCTGCCGCCCCCAAACACCCAGACCCCGATTCTTACTCTCTGGGCCACAGCAGCAGCAGCCATAATGGAGGGGCCGGGGGAGAGGGAGAGAGAGGGCAGAGAGAACATAAGTCAGTTGGGCCGACCTGGTAGACCCTGCAGCTCTGGGGACCCTCTCTCTGTTCCTTCTGGGTCCCCGGAGTTTACGGAGGGAGCTTTTGCAGCCTCAAGTGTGGAGTGGCCGTGGGGGACACTGTGAGGATGACTGTTGACGGGACATAATGTCTGCAGAGCCCTTTAACTCCTTCCACACTGGGATCATCCCCTCGACAGACAAGGAAACCAACTCAGAGAGGTGCAGTGTTGTGCTCAGGGTCACACAGCTGGCAAACCACAGTGCTGGGATTTGGAGCCAGGCCTCACCAGCTGCCCCAGGAACTGCCACCCAGGACTCACCTCTTTTTCAGCAGTGAGCTGAAGTCCAGAATCCCAGTGTCCTCATGGCTATCACTATGGAGAGGGACCCCCAGTGAGGCTGCAGTGAGGGACTGGAAAGGGATTAGGAGCAGGATGGGAGTGGAGTGGGGAGGGAGAAAGGGACACTAGCCAGATTGGGCTCCCACCCGTCTCAGACCCCTGGGGGTCTGCGGATGGTGCAGGTAGGGCCTGGGGCAGGGGTACCTGATCCGCCGACCACCTCCAGCCAGGCTCCTGTGGGGGTTAGACTCAGTATCCTCACCTGCCTGGGAAGCTTGCTCTCCCCTGCAGCCCCCACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGAAAAGGAGGTAGGAGACCAGGACCCATGGGGAGCCCGAGCCCAGGACAGACACCAGGGCCCCCTCACCGTGGACAGTGAGATTGAAGTTGGAGCAGTCAAATTTGTCCTTGGTGGACACCTCACAGCGGGAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACCCTGTCTCAAATTATATATATATATATATATTTAAAGGAGGCTGGGAGTGACAAATGCTCATCGATCTTCGCACCCTCAGGCTTTAGTTAACCCATACAGAGTTTTTGTACAGAGAAAGGGGACTATCTCGAAACCCATGATTGCCATCTGCTGGCACATGGTTGTGGTGAAATACAGGCTTTTGTGCAATGCACAGCCCCGCACAGCAGAACATGTTGGCCTCTCTTGCTAGAGGCCCCCTTGCCTAGCCCAGGACTGGGGAAGGTTGGGAAAAGCAGAGGCTTGGAGTGAACAAACAAGGGGACTTAAGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCA
|
Task1_train_15792
|
A genomic change on Chromosome 11 affects MYBPC3 (myosin binding protein C3). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Hypertrophic cardiomyopathy 4
|
ACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGTGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTA
|
ACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGTCTCCACGACCCCGGTGGACCCACCTTGCTGGCGCGGTCGTAGCTGTCGTGCAGCTGCAGGTGCTGGCCCACCTTGCTGCTCAGGTCCACCCATTTGCCCTTGAACCACTTGACCACAGGCGGCTTCAGGAGGCTGGCGCCGGCCACGCGGGCTGAGAAGGTGATGCTGCCACCTGCAAAGGCAGGGGCGACAGGCCCGGCTTGGGGAGTGTCCTGCTGCCCCCCCTTCCCACCCCAATGCTGGGCACAGCAGCTCACACTCACCCACGGTCACCTCGCCATCCTGTGGCCGCATCACGAAGAGGCCAATGGGGTCATCGGGGGCTCCAGGGGTAGGACCATTGAGAGCTGCTGAGCTTGACCCTGTGAGCAAAGGCTTTTTCTGTTTGTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGAGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTTAGCTGGGACCGCAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTACTGGGGATTATAGGCCTGAGCCACCGCACCTGGCCCAGCAAAGGCTTTTGAGACCTGCCCTGGACACGCCCTACCCACGGATCCTGCCCCTCCCTGCCCAGCCCCTCTCACCTTTGGGACTTGGGGCACTTTCTCCCAGCTCAGCGGCTGGGGCCGGGGCTTCTCCAGGGGCTCCAGTGGCCTCAGCAGGGGCAGGGGCAGGGGCCAGCATGGGCTCTGCCTTCTCTGGAGGGGATCAGATGGGAGTCGTGGTGCAGCCACTAACCAGAGACCCCTCCACCCTCTCTCTCCTGAGCATTGGACCCATGAGCCCGCTGTGGATGAGGAAAGTCTGCCATGGCTGTCCTCCCGCTGCCTGGGCCCCTCAGAGGCAGCTCATGCTGAGCTGGAGAGCCAGCCTGCCTCTCACATTCTCCTCCCCGTCCCAGGCCATCAGTTCCCATGTCCTCTGCATCTGCCCTGAACAGCTCCAGGTCCATCCCTGCTCTGCCCCAGCCTTAGAGCAGCCCCTCAGACTGGGCTGCACTCCCCTCATCCACAGCTCCTGGGGCTTCCCGGCCGTCTGTGCAGGGTCATCTCCCCAGGGAGGTCTGCAGGGGGAGAGTGGGGTTGTGTCTTGTTCATCTCTCCCACCTACCCCATGGCTGGAACAAGCCAGGATGGCACATGGGGGTACTCAGAGAGGTCATGTGCAGAAAAGGGGGAAAGGGCGTTCCTGGCGGGGGGCACAGCCACAGCAAAGGCAAGAAAGTGTGAAAGCACCTCCTGTTCCCTGGATGGATGGAGAGTCGCTGGGCTGCCCCTCCCCCAGCAGCCCAAACCTCAGGGAAGGCTGATCAGGATCTTACCTGCCTCTATGACCTTGAGGTCGAACTTGACCTTGGAGGAGCCAGCAATGACTGCGTAAGATCCCTGGTCGGCAGGGCCCACTTCCCGCACTGTCAGCGTATGCCGTGTGCCCTCTGCGGCCAGGCCGTACTTGTTGCTGGCGCTGATGTCACTGCCTCCGCGCTGCCAGCGCACCTTCACTCCTGCCCGCTCTGTCTCGGCCTCGAACACGGCAGGGCTGCCTGCGGCCACTTCCACTGACCGTGGCTTCTTGCTAAAAGCTGAGACTGAAGGGCCAGGTGGAGGCTACAGCGGCCCCTGGTTGGAGCGTGCACCCCGCCCCTGCAGCCCCTCTCAGTAAATACTGTGCTAGCACTTTCTATGCATCCCCTCACGTAATACTCTACCAGTTCTCTGAGGTAGTTGCAGTTATTCTGTTCATTTCTCAGAGGAGGACACTGAGGCTCAGAGAAGCTAAGCGGCTCCTCCAAGATCACACAGCTAGCAGTCGGGAGAGCCAGGGCTGTGGTCCTGACCTCCCAACAAGACTTTTTCTGCATGTGTCCACTTTCCCTGCTTGGAGACACCCGTGATGAACCCAGCTCCCTTTCCCCCAACCATTTCGGGCCCTTGGCAGGGGGCGGGGAAGTCTGCCTACTTGGAATGTGGCCAAATTTGTCCTCCAAGGACCTCAGGCTGGGTATCAGCAACTGAGATAAAGCTGGCCTGGGAGGGCGCTGGGGGATGGGGACCTGGATCTCTGCCCTGGACAACCTTCATAAGGGCACAGCCCAGGCCCAGGTCCCTGGGCTGTGATTTTCCCTGCCCTTGGCCTGGGTTCAGGGGCTCCTGACTGTCCTCTCTCAGAGAAGAGGGGCTGTGTCACCCTCAACATGGGGGCCACACCGTACAGGCTCATGAAGCAGATAATGTCACAGCCAGGAGGAACCAACCCAATGCCACCACCACCCCCGGCACCCCAGGTTGGGAGACTGAGACCCATAGTGGGTAGAGACTGGTCTGAAGGCATGCCGTGAGCCTGGCTCAGCTCCATACTAAACGTGGGCTCTGTCCGCGGGGAACCTTGCTGTGGAAGGTGAAGGCAATGGGACAGGGAAGGGGTCCCTTTGCATTCTCAGAATGGGTTGACCCCGGGTGCTTCCTGTCTTGGCTGTGTCCCCTCTCTGCGTCCCTGACCTTGGGTTTACCTTCACCTCTCATCAGAGGGATGGGAAAAAGAAACCGAGAATCAAAAAAGGACCCTGGAGGACTGGCTGCCCCTGTCCTGGGGCTCAGAGGCCACGTCCTCGTCAACCCCCTCAAGAACTCCCTCCTAGCCCTGCTCCCCAATTGTAGACACCCCCCTGCTCCCACACTTAGACCCAACCCCAGTCCTAAAGCTACCTGGCTTCTTCCCCGGCTCAGGCATCCTGAGAGACGTCACACCAGGCACGAAGCAGGCACAGGTCACCCAAAGAGGGACTGAGTGGGGTCCTGTCCTTCCCACTATATATGGGGACCTCCCCCCTCCCCAGGCTCTGCTTATCTGCCTCCTGTCCAGCCACCTGCTAAATATAGATGAATTCCAGAGAGCTGAGGTCTCTCCAGGGAGAAGGTAGGGCCACATTGTCCCTGGCTGGCTCCTGTCCCTTCCCCCCTCACCCCCCGCAGCACAATTCTGCCTCCCCAACCTTTGGCAAGCCTCAGGGGTACTCCAAGCCCCGTGTGTGTCCCTCTTACAGCAAATTGTACGGTGGGAGCATGCTGGGCCCATAACCCTAAGGCTAACGGGTCAGGAGCATCCTCGCAGGCAGTTCAGGCAGTGGTCATGTCCACAGACCCTGGGGCCAGGGTGTCTCTGAGTCCTAGCACTGCCATCTCTTTAATCTCAAAGCACCTGGTTTCCTCATCTGTAAAGCGGGGTGGGTGAAAGCAGCACCCACTGCACAGGATTGTCACACGTATGAAGTGGGTTTATAATTTTAAAAATGTTAGGCCGGGTGTGGTGGCTCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTATTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAAATAAAAAATAAAATAAATACACACACACACACAAATTAGCCAGGTGTGGTGGTGTGGACCTGTAGTA
|
Task1_train_15793
|
This gene mutation involves PSMC3 (proteasome 26S subunit, ATPase 3) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Atrial septal defect, ostium secundum type
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Task1_train_15794
|
Gene PSMC3 (proteasome 26S subunit, ATPase 3), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Polymicrogyria
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Task1_train_15795
|
This mutation occurs in PSMC3 (proteasome 26S subunit, ATPase 3) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Failure to thrive
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Task1_train_15796
|
Given a variant located on Chromosome 11 and affecting PSMC3 (proteasome 26S subunit, ATPase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Developmental dysplasia of the hip
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Task1_train_15797
|
Located on Chromosome 11, this mutation impacts PSMC3 (proteasome 26S subunit, ATPase 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Patent foramen ovale
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Task1_train_15798
|
With a mutation on Chromosome 11 in gene PSMC3 (proteasome 26S subunit, ATPase 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Microcephaly
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Task1_train_15799
|
Given a variant located on Chromosome 11 and affecting PSMC3 (proteasome 26S subunit, ATPase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Microretrognathia
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.