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_27800 | This gene mutation involves PAX1 (paired box 1) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CAGAGAAATTGTTGATGTTCAATCTCAGGGGTGAATAATTCAGGGCTGCGCAAAACCTCATTTAAATGAAGGAGAAATGACCATTCTGTGGTTTAACAGAGACTTCCTGAAGCTGCAGGTGCTGGGAGAAAGACGAGGCCAGGCCACCTGGGATAGAGTGGTGCGAGATTCCACCGCCAGGGAGAAAGGAACTTGTCCTTCAGACCTAGAGCTGGAGCTATGCATTTGGCCTCCCGCCGGTCGCGCTTGGGGACAGGAGGGCGCCGGATCTATGCGCCCCTTAGCAGCAGATCGGGATCCTTTTGCCTCCTGCCCCTTCTGTCACTGCTTGGAGAGGGATGAGTTCTGGTGGCTGGGCCTGGCTGTAGGAGACAGGATTTGGACCGTGCCCCTCTCGCATCACCGAAATCACCCCCACTATTCCAAGAGTGGTTGGCTATTAAACGTGAAGATTTCCTGAGAGAAGGATTGAGGACCTGGCCAGGAATGGGACACAAGTTCCGCCTTGTGTCTTCCTGACAGGAGCCCTGCACCGCGCTGGACGCTCACCTTGACACTCCCAGCCAGCTGGGGTACTGATCCCACCCTTCCCCGGCCGCTGCCCCGGGAGTGGGGAGGTAGAGAGAGCCACACCCGAAACACCTTTCCACGATAAACTTTTATTCTCTATCTTATTATTAATGGTGGCGGAAATAAAACTAAAACCAAAACGAAAACGAGTACTAGTACTAACACACTAATCAATTTGAGATGACTTCCCCCTCATTCCCAAAGCTAGAGGAGGAAGGGGGCTGAAAGGGGCTCAGAGCAGTGGAAGGTCCCAGGCCCAGCTGGGGTTGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGGGGTGGGTTCCGGGGGGGTGGTGGAAGAGGGCCGAGGGGGGAGGATAGAAGGAGGGGGTAGAGTTTCAGGGCGGGGAGGGGGGCGCTGGGGCGCAGTGACGGGAACCAATGAGCTGCCAACTCGCGCGTCTCCGGCGTGACTGCCGAGATTGACGTGGAGGACACGTCAAATTGATTCCCGCACGCTGCAGCCTCCCGGTCAGACGAATTTCTCCCAATCGGATGAAGTTCACCCTGGGCCTGGGGTCGCGGGCGTGGAGAGTGTCCTGGGAGGGGGCAGCAGCGGCGGCGGCAGGCCCTGGAGCGGGCGGCAGCGCGCTCCGCTGCCGCGCACAGCGCGTCTCCAGCCCGCGGCTGGGCCGCCGCGGCTCTCGGCTCTCGGGCGCCCTCCCTCTATGCCTCTCACGCGGCGGCGGCGGCGCCCAAGCTCTCCCGGACTGCGCCGGGCCCAGCCCCGGCCACCCCGGCCACCCCGGCGCCAGGCAGCTGGCCGGCCCGCTCGCTATGGGTAAGGGGCGGGCGACAGGCAGGGCTCGGGAGGGCTGATGAGGTGGGTCGGGTCCGCCTGCCTCCCTTCCCTCTCGTCCGCTTTCCCTGGGCGACCCAGTCCTGGGTCCTGGAGAAGCTGCATTCTCCTCTGATCCCCAGCCTTCAGGGGGCAGTTGAGCAAGTCTGGGAAGGGAGTGTTCCAAGTAGACGCGCTAAAAGTCGCGAAAGGGCACGGAGGGCTACAATGCGCCGCGCTCCACTCCGCGGCTCCTCTGCGCCCTTGCCCACTCCAAGCCAGACCCAGGCGGTTTGCCCTTGGACTCCGAGCTGTCTGGGGACCCACAGGTCACCTTTGGAAGTGCGCCTGGGTGCAGTCCCTCGCTCCGCGTGGGGACCCTTGGCTAACCCGCCGGGTGTTTTCTCCCCCTCCGGCTCACTCTTGTCTGGCGCATCCGCAGAGCAGACGTATGGCGAGGTGAACCAGCTGGGCGGTGTGTTCGTCAACGGCCGCCCCCTGCCCAACGCCATCCGCTTGCGCATTGTGGAGCTGGCGCAGCTGGGCATCCGACCCTGTGACATCAGTCGGCAGCTCCGCGTATCCCACGGCTGCGTGAGCAAGATCCTGGCGCGCTACAACGAGACCGGCTCCATTCTGCCCGGGGCCATCGGGGGGAGCAAGCCCCGCGTCACCACTCCCAACGTGGTCAAGCACATCCGGGACTACAAGCAAGGAGACCCTGGCATCTTTGCCTGGGAGATCCGCGACCGGCTGCTGGCCGACGGCGTCTGTGACAAGTACAATGTGCCTTCGGTGAGCTCCATCAGCCGCATCCTGCGCAACAAGATCGGCAGCCTGGCGCAGCCCGGACCGTACGAGGCAAGTAAGCAGCCGCCGTCGCAGCCTACGCTGCCCTACAACCACATCTACCAGTACCCCTACCCCAGTCCCGTGTCGCCCACGGGCGCCAAGATGGGCAGCCACCCCGGGGTCCCGGGCACGGCGGGCCACGTCAGCATCCCGCGCTCATGGCCCTCGGCACACTCGGTCAGCAACATCCTGGGCATCCGGACGTTTATGGAGCAAACAGGTCAGTTGTGGCGGCCTCCGTAGCCTTCTATTAAGGGGCAGAACCTGGGGCGGGCAGGCTTGCAGGAGAGGACTCACACTCGCTCTCCTCCCGGGACCGGTTCTGGCTCAGGGGAGGGCTCCACACTGGCCAGGGAGGCTGGGGGTCCTGGGCCTTTTGTAAGAGACCTCGGACATCTTGAACTTTTTATGACAAATATGGAAAATATTTCCCAAATAGAAGAGCAATCGCCGACCACAAATTTGGAGGCCTGAAATTGTGCTTTTTCATTCTTGCAAAAAGTATGCAAGCCCCTGTTGCCAAATCTAAGGGGGAAAAAAACCCGCTCAATTTTGAGACCCTTTCTTTAGCTCTCAGAATCCTTCACGATTTCCCAAGGGTTCTGTCCCCCACTCCCAGGCCCAGTGGCTCTTCTGAGTTAAAGGAAAAGGGATCTTGTGGTCGATTGAGTGGCCTACATCTCTAAGGTCCTGTGGCCTTGCAGGTCCTGGAGTTTGCGGTGATGGCTGGTGGGGCTGCAGCCACCTTCACAAGGATTTGTCATTTATCTGCAACTAAAGCTTAACACACTATAGGTCAAGTGGGTGACGAGGAAGATGGGGAAGGCGGGAGGTTTGGAACAACTTTGATGCCTGGCTGGGAAAGAAACCAGCCAGAATCGGGTCTGGATTTCTTTGCGCTCTCCCCAGCTGCCAGCAGCTGGCCAGGGGATGGCACACTCTTAGGTGATCAGACTCAGGAGGAGGGCAAGAAGCAAAATTCACCATAGCCTAGGAGGAAAGAGTGGTGGCTGGAAAGAAACTGTGAGTGCTCAGCTCCAGCAGCAGCAGCGCCTCTGTGGCCCTGCTCTGGCTTTGTGTCTCCTGGTGGCTCTAACCCAGCCTAAGGCTAAAGCTTCCCATGGAATGGCAGGGGTCTGGAGGTGACCCCACCAAGCCTGCACGCAGATCTGGAGGTTTCCCTTGGTTCCTGGCACACACAAGGGCCCGGGGAGCAGCTGTGTGCTTCTATCTGACCCGTGGGGACAACAATGTTGACGCTTCTTTTGGGAAACCCTGGGCGTTTCCAGAGGCAGTTCTCGTAGAATCGTCTCCCTGCCCTCCAGAGGCTTGTGCAGATGTTGAGAAATCAATACAATTTTCATGAGGTTGCTGTAGCTTTGAACTCGGAAGTTTCTGGGAGCCGTGTCTGGACAATGGAGCGGCCGCTTTGGCCGAGTCTGCCCAGGCTTTGACTCAGCAGCAGCCTCCCGTTCGTGGGAAACCGGTTGAAGGCTAGGAGGACCGGGCAGCAGGCCTGGCTGCCTTTCCTCCGCCCCACCCGGAGTGGTGAACATTCCAGTCCCTGCCGCCTCCTGGTGGAGTGTCAGGCCACCTACAAATTTTGTGGGACCCCTGGCCGTGTCTTCAGATACAAATTGGGTGGTTGGCCACACGTGTGCCCAGGGCAGATTCGGAGGCACCTTTTAATCCGTCCTCTCTCTCCTGCAGGGGCCCTGGCTGGGAGCGAAGGCACCGCTTACTCTCCCAAGATGGAAGACTGGGCCGGCGTGAACCGCACGGCCTTCCCCGCCACCCCCGCAGTGAATGGGCTAGAGAAACCTGCCTTAGAGGCAGACATTAAATACA | CAGAGAAATTGTTGATGTTCAATCTCAGGGGTGAATAATTCAGGGCTGCGCAAAACCTCATTTAAATGAAGGAGAAATGACCATTCTGTGGTTTAACAGAGACTTCCTGAAGCTGCAGGTGCTGGGAGAAAGACGAGGCCAGGCCACCTGGGATAGAGTGGTGCGAGATTCCACCGCCAGGGAGAAAGGAACTTGTCCTTCAGACCTAGAGCTGGAGCTATGCATTTGGCCTCCCGCCGGTCGCGCTTGGGGACAGGAGGGCGCCGGATCTATGCGCCCCTTAGCAGCAGATCGGGATCCTTTTGCCTCCTGCCCCTTCTGTCACTGCTTGGAGAGGGATGAGTTCTGGTGGCTGGGCCTGGCTGTAGGAGACAGGATTTGGACCGTGCCCCTCTCGCATCACCGAAATCACCCCCACTATTCCAAGAGTGGTTGGCTATTAAACGTGAAGATTTCCTGAGAGAAGGATTGAGGACCTGGCCAGGAATGGGACACAAGTTCCGCCTTGTGTCTTCCTGACAGGAGCCCTGCACCGCGCTGGACGCTCACCTTGACACTCCCAGCCAGCTGGGGTACTGATCCCACCCTTCCCCGGCCGCTGCCCCGGGAGTGGGGAGGTAGAGAGAGCCACACCCGAAACACCTTTCCACGATAAACTTTTATTCTCTATCTTATTATTAATGGTGGCGGAAATAAAACTAAAACCAAAACGAAAACGAGTACTAGTACTAACACACTAATCAATTTGAGATGACTTCCCCCTCATTCCCAAAGCTAGAGGAGGAAGGGGGCTGAAAGGGGCTCAGAGCAGTGGAAGGTCCCAGGCCCAGCTGGGGTTGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGGGGTGGGTTCCGGGGGGGTGGTGGAAGAGGGCCGAGGGGGGAGGATAGAAGGAGGGGGTAGAGTTTCAGGGCGGGGAGGGGGGCGCTGGGGCGCAGTGACGGGAACCAATGAGCTGCCAACTCGCGCGTCTCCGGCGTGACTGCCGAGATTGACGTGGAGGACACGTCAAATTGATTCCCGCACGCTGCAGCCTCCCGGTCAGACGAATTTCTCCCAATCGGATGAAGTTCACCCTGGGCCTGGGGTCGCGGGCGTGGAGAGTGTCCTGGGAGGGGGCAGCAGCGGCGGCGGCAGGCCCTGGAGCGGGCGGCAGCGCGCTCCGCTGCCGCGCACAGCGCGTCTCCAGCCCGCGGCTGGGCCGCCGCGGCTCTCGGCTCTCGGGCGCCCTCCCTCTATGCCTCTCACGCGGCGGCGGCGGCGCCCAAGCTCTCCCGGACTGCGCCGGGCCCAGCCCCGGCCACCCCGGCCACCCCGGCGCCAGGCAGCTGGCCGGCCCGCTCGCTATGGGTAAGGGGCGGGCGACAGGCAGGGCTCGGGAGGGCTGATGAGGTGGGTCGGGTCCGCCTGCCTCCCTTCCCTCTCGTCCGCTTTCCCTGGGCGACCCAGTCCTGGGTCCTGGAGAAGCTGCATTCTCCTCTGATCCCCAGCCTTCAGGGGGCAGTTGAGCAAGTCTGGGAAGGGAGTGTTCCAAGTAGACGCGCTAAAAGTCGCGAAAGGGCACGGAGGGCTACAATGCGCCGCGCTCCACTCCGCGGCTCCTCTGCGCCCTTGCCCACTCCAAGCCAGACCCAGGCGGTTTGCCCTTGGACTCCGAGCTGTCTGGGGACCCACAGGTCACCTTTGGAAGTGCGCCTGGGTGCAGTCCCTCGCTCCGCGTGGGGACCCTTGGCTAACCCGCCGGGTGTTTTCTCCCCCTCCGGCTCACTCTTGTCTGGCGCATCCGCAGAGCAGACGTATGGCGAGGTGAACCAGCTGGGCGGTGTGTTCGTCAACGGCCGCCCCCTGCCCAACGCCATCCGCTTGCGCATTGTGGAGCTGGCGCAGCTGGGCATCCGACCCTGTGACATCAGTCGGCAGCTCCGCGTATCCCACGGCTGCGTGAGCAAGATCCTGGCGCGCTACAACGAGACCGGCTCCATTCTGCCCGGGGCCATCGTGGGGAGCAAGCCCCGCGTCACCACTCCCAACGTGGTCAAGCACATCCGGGACTACAAGCAAGGAGACCCTGGCATCTTTGCCTGGGAGATCCGCGACCGGCTGCTGGCCGACGGCGTCTGTGACAAGTACAATGTGCCTTCGGTGAGCTCCATCAGCCGCATCCTGCGCAACAAGATCGGCAGCCTGGCGCAGCCCGGACCGTACGAGGCAAGTAAGCAGCCGCCGTCGCAGCCTACGCTGCCCTACAACCACATCTACCAGTACCCCTACCCCAGTCCCGTGTCGCCCACGGGCGCCAAGATGGGCAGCCACCCCGGGGTCCCGGGCACGGCGGGCCACGTCAGCATCCCGCGCTCATGGCCCTCGGCACACTCGGTCAGCAACATCCTGGGCATCCGGACGTTTATGGAGCAAACAGGTCAGTTGTGGCGGCCTCCGTAGCCTTCTATTAAGGGGCAGAACCTGGGGCGGGCAGGCTTGCAGGAGAGGACTCACACTCGCTCTCCTCCCGGGACCGGTTCTGGCTCAGGGGAGGGCTCCACACTGGCCAGGGAGGCTGGGGGTCCTGGGCCTTTTGTAAGAGACCTCGGACATCTTGAACTTTTTATGACAAATATGGAAAATATTTCCCAAATAGAAGAGCAATCGCCGACCACAAATTTGGAGGCCTGAAATTGTGCTTTTTCATTCTTGCAAAAAGTATGCAAGCCCCTGTTGCCAAATCTAAGGGGGAAAAAAACCCGCTCAATTTTGAGACCCTTTCTTTAGCTCTCAGAATCCTTCACGATTTCCCAAGGGTTCTGTCCCCCACTCCCAGGCCCAGTGGCTCTTCTGAGTTAAAGGAAAAGGGATCTTGTGGTCGATTGAGTGGCCTACATCTCTAAGGTCCTGTGGCCTTGCAGGTCCTGGAGTTTGCGGTGATGGCTGGTGGGGCTGCAGCCACCTTCACAAGGATTTGTCATTTATCTGCAACTAAAGCTTAACACACTATAGGTCAAGTGGGTGACGAGGAAGATGGGGAAGGCGGGAGGTTTGGAACAACTTTGATGCCTGGCTGGGAAAGAAACCAGCCAGAATCGGGTCTGGATTTCTTTGCGCTCTCCCCAGCTGCCAGCAGCTGGCCAGGGGATGGCACACTCTTAGGTGATCAGACTCAGGAGGAGGGCAAGAAGCAAAATTCACCATAGCCTAGGAGGAAAGAGTGGTGGCTGGAAAGAAACTGTGAGTGCTCAGCTCCAGCAGCAGCAGCGCCTCTGTGGCCCTGCTCTGGCTTTGTGTCTCCTGGTGGCTCTAACCCAGCCTAAGGCTAAAGCTTCCCATGGAATGGCAGGGGTCTGGAGGTGACCCCACCAAGCCTGCACGCAGATCTGGAGGTTTCCCTTGGTTCCTGGCACACACAAGGGCCCGGGGAGCAGCTGTGTGCTTCTATCTGACCCGTGGGGACAACAATGTTGACGCTTCTTTTGGGAAACCCTGGGCGTTTCCAGAGGCAGTTCTCGTAGAATCGTCTCCCTGCCCTCCAGAGGCTTGTGCAGATGTTGAGAAATCAATACAATTTTCATGAGGTTGCTGTAGCTTTGAACTCGGAAGTTTCTGGGAGCCGTGTCTGGACAATGGAGCGGCCGCTTTGGCCGAGTCTGCCCAGGCTTTGACTCAGCAGCAGCCTCCCGTTCGTGGGAAACCGGTTGAAGGCTAGGAGGACCGGGCAGCAGGCCTGGCTGCCTTTCCTCCGCCCCACCCGGAGTGGTGAACATTCCAGTCCCTGCCGCCTCCTGGTGGAGTGTCAGGCCACCTACAAATTTTGTGGGACCCCTGGCCGTGTCTTCAGATACAAATTGGGTGGTTGGCCACACGTGTGCCCAGGGCAGATTCGGAGGCACCTTTTAATCCGTCCTCTCTCTCCTGCAGGGGCCCTGGCTGGGAGCGAAGGCACCGCTTACTCTCCCAAGATGGAAGACTGGGCCGGCGTGAACCGCACGGCCTTCCCCGCCACCCCCGCAGTGAATGGGCTAGAGAAACCTGCCTTAGAGGCAGACATTAAATACA |
Task1_train_27801 | Here is a genetic alteration in THBD (thrombomodulin) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GTGTACCTAGCCTTTTCTACCAAAGAGCAAAGCTACACAAAGAAAATTCCTCAGTTTCTTGAAAATAAGGGCCTGACTTGGCCTGCTACTTATAACTGATCTATATTTCATGTATTCCAGAAAATTGGAAGCAGTCTGGAATGGTTGTCCTCAAATTACTGAGCAGACACACCCCCTGCAGATCTTGTTAAATATAGATTCTCATGAACTGGATGGGGTGGAGCCTAGGATTCTGCATTTCTAACCAGCTCCCATGGGCAGGGCAGCTTCCAATTCTTGTTCAGGGGCCACATTCCAAAAGGCCTCTCTGAAATGGTAGAAATTCTCTGAGGACCTGATTAAGGCTAGGCCCTAATTGGGCATCCTCCAGGATCCATTCCCAAGCTCCCAATTCCACAAGACCAGTAGAGCTGGTTTTATTTTGGTCTACCAGTGACAAGGAACAGTGACAGTCAATTGCTAATTGGCATGAATCATGCAGTTTGAAGCTTTCTTGAACTGTCTCCTGGGAGGTGTTTGTCTCTTCTCTCAATCTAGAGCAACCTTCTGAACATTTTCAACACTGTCAAAAATAAGTAATAATAACAAAAAAGGAAATTGCATAAGAAGATTAGCAACAATTACCATTTTTCAGTACAAATCAAAACAGCAACAAAATTCAGGCTCACTGTTTAAAAGTAAAGATAAATACCTCTTTGGGTGTAATTTCTATGACAGTCCAGCAACATCAATTTAATACCTTTTACATCTCAACCTTTGTTTAAAATTATTTTGCTCTGGGAATCTGAAATTTCAGGATAAATTAGCAAATCTGGTGAAAAAGCAAATGGCCATTTTTATTTTTAGTGTTTTTGTTTCTGTTTCATGTAGGGGTTCTGTCTGAGCAGACAGCTAAGAGCAAAAGAAGTAGGGTCAGGCACAGGTAGGGTGACTCAGGTGAGTTGGCCCAGTTCCTGGGAGGAGAAAACTAGGAAGAATGGGGAATAAGTGGGGCTTGCTTCATAAATGTGAGAGGGCTAGGAAAAAAAAATTCACCAAGATAGTTTACCTGTCACATGACAAGTGGGAGTTTGTAGAGAGAGAGAGACCGGAGAGCTGTGCAAAGTGGATACTGGAGACATACAGGTAAGAACAAAGGAAACAAACAAAAACCTAAATACTTAAAAAAAATAAATATTTTAGTCATCCCTAGCCCACGAGGTCAAGGTCTGCCCAGAAGGCTGCCGACCAATAACGCTCACCCTCCTGCGCCCGGTAGTGAGGACCTGGGACAAATCGCAGTCTGTGTCTTCGTTACAAAATTGCCATCATTGCCCAGTGGTCCAGTGACGTCACGGAAGAGGCCGAGGCTCATTCTCCTCCCTCTAATCACCCCCTCGCCAGTTAGCCATGGAATAGAAGAAAACAGCTTGGGGGGTGCGGGGAGGGTCTTCTCCAGCTGTAATGCCAGCTAAGGTGCTTTGGTAGCAAAGCTGGGGGTGAGGAGGCACAGGCTCCTGGACGGAGCCAGGCTCCTGGACGGAGGCCGCTCAGAGTCTCTGCGGCGTCCGCTCGGTCCGCACGTGCTGCAGCACTACCTCCTTGGAAGGGGCCGCGCACTTGTACTCCATCTTGGCCCTGGCGGCGCCCTGCTTCTTGCGCAGGTGGCAGAGGAGCGCCAAAAGCGCCACCACCAGGCACAGGCTCGCGATGGAGATGCCTATGAGCAAGCCCGAATGCACGAGCCCCACGGCCGGAGGAGTCAAGGTGGAGCCGGGCGTCGGGCTGGGCGGGGGCTCGCCAGAGCCGCTGTCGCCACCGTCCACCTTGCCGGAGTCACAGTCGGTGCCAATGTGGCGGGCAAGGGCCGAGTCGGGCCCGCAGATGCACTCGAAGGTACCGGGGAGGTTGTGGCACACCCCGGAGCAGAAGCCGCCGTTTTCGCACTCGTCGATGTCCGTGCAGATGAAACCGTCGTCCAGGATGTAGCCTTCAGGGCACTCACAGCTAGCCTGGGTGTTGGGGTCGCAGTCGGCTGGACAGGCAGTCTGGTTGCAAAACATCTGGCACCTGTGCGGCTCGTGGGGAATGGGCGCGAAGCCCTCGGCGCAGACGCAGAGGTAGCTAGTTTGGTTCAGGGGCTGGCACTGGTACTCGCAGTTGGCTCTGAAGCACGGGTCCACGGGCTCCACACACTCGCCGTCCACCAGGTCGTAGTTAGGGTAGCAGTGGCACTCGAAGCCACCCTGTGTGTTGACACAGCGCTGCGGACACGGACTGGGCTCCAGTATGCAGTCATCCACGTCCTCGCACCGGTGTTGGTCGGCCGCCAGCCGGTAGCCGGTCTCGCACATGCACGAGTAGGAGCCCGGCTGGTCGGGGTTGGGAACGCAGAAGTGCTCGCAGAGGTCGTTGCAGGACTGCGTCGCGGATGCGGTGCAGGAGCGCCCGTCTGCCTGCAGGGCGGCGCCGGCTGGGCACTGGCAGCGGGGAGCCCCAGGGATCGCATTGCACGCGTGCTCGCAGCCGCCGTTCTCCACGCTGCAGTCCCAAGCGCCCGGCGCCTCCCTGGCCCAGTGCCCCTGGACCGCTCCGGGCGGCGCGGTGCACATTAGCTGTAAGCCGAGGGGAGCCACCGCGGCGGAGCTGCCCACCGGCAGCGCCTGGAAGTCCGCTCCGCGGGCCGCGAACGGGGTGCCGTAGGTGATCGAGACGGCGGCAGCCGCGGCGCCGGGCTCCACAGCCAGTGGCCTGCAGGTGGCTGGGAAGTGGAACTCGCAGAGGAAGCCATCGGCCTTCACTTCGCACTGCTGCTCCTCCCAGATCGGCTCGCTGGGCACAGTGGCCTCAGCAGCGGAGACAGCGACGCACAACGGGCCGCAGAGGGGAGCCCCATTGAGGTCGAGCCGTGCCCACCTGCTATAGCTGGTGTTGTTGTCTCCCGTAACCCACTGGAAGCCGCGCAGGGGCCCGAGGCGCTTGGGGTCGCCGCAGCCGGGTGGCAGCTGCAGGCCGATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGTTCAGTAGCAAGGAAATGACATCGGCAGCCACCGAGGAGCGCACTGTCATTAGGTGGCCCCGCAGTCCGTCGCAGATCTGACTGGCATTGAGGAAGGTCGCGGGGCCCGGGTAGAGCGCGAAGCAGTCGTGCTCGACGCACTGGCTGCCACCCGGCTGCGGCTCTGCGGGTGCGGGGAACCCCAGGCCGGCCAGGGCCAGCGCGCCAAGGACCAGGACCCCAAGCATGTTACCCAGGCGCGCCGCGTGCAGGCGCCGGGGAAAGCGCGGGCACTGCGACAGGGCCGTGCCGGAGCAGAGGGGCACAGGACGCCGATGGCGACAGCCTCTCCTGTCCGTCCCAGCCCAGACACTTCTTGCCGCTGCGCGCAGCCCCTGCGAGGCAGCCTCTGACATGCGGATCGGCCAGGGCTCGAGTTTATAAGTGCCCGGCCCTCCCTCCCTGGACGTTCGGGAAAAGGAAGGAAGTGCCTGGTGGGAAGGGCTGATGCCGCATACTCGGATTGCTGGGTTCTCTGGCCGCCCTTGCGCCCGCCCTCGCGCATGGGATCACCTCGCCGGGATGAGTAAACCCTGCCCTGGCGCAGGGAGGTTCTCGGGCGGGGCCGACAGGGGCAGGCGCCAGGGAAGGCCAGCACCCCTGTAACAAGACGACTGTCCCCGCCCACCACTCGGGCCCCCACGCGTGCAGCCCTCTTTCATCTCTTGGTCCTCCTTTCTTTCTTTTCATACATGTTACAGCCACTTCCAAGGAAAGCCTGGATTGCAAGAGCTCTGGGAACCGGAGACTTCAGAGAAGAGGGCTTTGAATGGGGAGTGGGGGAGGTGGTGCACAGGACCTGCAAGACGCTGGGAGGGGTGATCGGCACCAAGGGCACTTTGGGAGGACCTGCCTAGGACGTGGACTTCCCCGAAGACAGGATCGCAAGGAGAGACAGCTGGATCCTGTCCGCGGCCAAGGTGCCTGGCTCAGGAAACCAGCGGAGCGCGCTTGGCCTCACAGGACAGTGGGTGTGGCTGGGGTGACGGGGCAGGGTGGGGAAGACTGGCCTAACACCAGCGCCCTC | GTGTACCTAGCCTTTTCTACCAAAGAGCAAAGCTACACAAAGAAAATTCCTCAGTTTCTTGAAAATAAGGGCCTGACTTGGCCTGCTACTTATAACTGATCTATATTTCATGTATTCCAGAAAATTGGAAGCAGTCTGGAATGGTTGTCCTCAAATTACTGAGCAGACACACCCCCTGCAGATCTTGTTAAATATAGATTCTCATGAACTGGATGGGGTGGAGCCTAGGATTCTGCATTTCTAACCAGCTCCCATGGGCAGGGCAGCTTCCAATTCTTGTTCAGGGGCCACATTCCAAAAGGCCTCTCTGAAATGGTAGAAATTCTCTGAGGACCTGATTAAGGCTAGGCCCTAATTGGGCATCCTCCAGGATCCATTCCCAAGCTCCCAATTCCACAAGACCAGTAGAGCTGGTTTTATTTTGGTCTACCAGTGACAAGGAACAGTGACAGTCAATTGCTAATTGGCATGAATCATGCAGTTTGAAGCTTTCTTGAACTGTCTCCTGGGAGGTGTTTGTCTCTTCTCTCAATCTAGAGCAACCTTCTGAACATTTTCAACACTGTCAAAAATAAGTAATAATAACAAAAAAGGAAATTGCATAAGAAGATTAGCAACAATTACCATTTTTCAGTACAAATCAAAACAGCAACAAAATTCAGGCTCACTGTTTAAAAGTAAAGATAAATACCTCTTTGGGTGTAATTTCTATGACAGTCCAGCAACATCAATTTAATACCTTTTACATCTCAACCTTTGTTTAAAATTATTTTGCTCTGGGAATCTGAAATTTCAGGATAAATTAGCAAATCTGGTGAAAAAGCAAATGGCCATTTTTATTTTTAGTGTTTTTGTTTCTGTTTCATGTAGGGGTTCTGTCTGAGCAGACAGCTAAGAGCAAAAGAAGTAGGGTCAGGCACAGGTAGGGTGACTCAGGTGAGTTGGCCCAGTTCCTGGGAGGAGAAAACTAGGAAGAATGGGGAATAAGTGGGGCTTGCTTCATAAATGTGAGAGGGCTAGGAAAAAAAAATTCACCAAGATAGTTTACCTGTCACATGACAAGTGGGAGTTTGTAGAGAGAGAGAGACCGGAGAGCTGTGCAAAGTGGATACTGGAGACATACAGGTAAGAACAAAGGAAACAAACAAAAACCTAAATACTTAAAAAAAATAAATATTTTAGTCATCCCTAGCCCACGAGGTCAAGGTCTGCCCAGAAGGCTGCCGACCAATAACGCTCACCCTCCTGCGCCCGGTAGTGAGGACCTGGGACAAATCGCAGTCTGTGTCTTCGTTACAAAATTGCCATCATTGCCCAGTGGTCCAGTGACGTCACGGAAGAGGCCGAGGCTCATTCTCCTCCCTCTAATCACCCCCTCGCCAGTTAGCCATGGAATAGAAGAAAACAGCTTGGGGGGTGCGGGGAGGGTCTTCTCCAGCTGTAATGCCAGCTAAGGTGCTTTGGTAGCAAAGCTGGGGGTGAGGAGGCACAGGCTCCTGGACGGAGCCAGGCTCCTGGACGGAGGCCGCTCAGAGTCTCTGCGGCGTCCGCTCGGTCCGCACGTGCTGCAGCACTACCTCCTTGGAAGGGGCCGCGCACTTGTACTCCATCTTGGCCCTGGCGGCGCCCTGCTTCTTGCGCAGGTGGCAGAGGAGCGCCAAAAGCGCCACCACCAGGCACAGGCTCGCGATGGAGATGCCTATGAGCAAGCCCGAATGCACGAGCCCCACGGCCGGAGGAGTCAAGGTGGAGCCGGGCGTCGGGCTGGGCGGGGGCTCGCCAGAGCCGCTGTCGCCACCGTCCACCTTGCCGGAGTCACAGTCGGTGCCAATGTGGCGGGCAAGGGCCGAGTCGGGCCCGCAGATGCACTCGAAGGTACCGGGGAGGTTGTGGCACACCCCGGAGCAGAAGCCGCCGTTTTCGCACTCGTCGATGTCCGTGCAGATGAAACCGTCGTCCAGGATGTAGCCTTCAGGGCACTCACAGCTAGCCTGGGTGTTGGGGTCGCAGTCGGCTGGACAGGCAGTCTGGTTGCAAAACATCTGGCAACTGTGCGGCTCGTGGGGAATGGGCGCGAAGCCCTCGGCGCAGACGCAGAGGTAGCTAGTTTGGTTCAGGGGCTGGCACTGGTACTCGCAGTTGGCTCTGAAGCACGGGTCCACGGGCTCCACACACTCGCCGTCCACCAGGTCGTAGTTAGGGTAGCAGTGGCACTCGAAGCCACCCTGTGTGTTGACACAGCGCTGCGGACACGGACTGGGCTCCAGTATGCAGTCATCCACGTCCTCGCACCGGTGTTGGTCGGCCGCCAGCCGGTAGCCGGTCTCGCACATGCACGAGTAGGAGCCCGGCTGGTCGGGGTTGGGAACGCAGAAGTGCTCGCAGAGGTCGTTGCAGGACTGCGTCGCGGATGCGGTGCAGGAGCGCCCGTCTGCCTGCAGGGCGGCGCCGGCTGGGCACTGGCAGCGGGGAGCCCCAGGGATCGCATTGCACGCGTGCTCGCAGCCGCCGTTCTCCACGCTGCAGTCCCAAGCGCCCGGCGCCTCCCTGGCCCAGTGCCCCTGGACCGCTCCGGGCGGCGCGGTGCACATTAGCTGTAAGCCGAGGGGAGCCACCGCGGCGGAGCTGCCCACCGGCAGCGCCTGGAAGTCCGCTCCGCGGGCCGCGAACGGGGTGCCGTAGGTGATCGAGACGGCGGCAGCCGCGGCGCCGGGCTCCACAGCCAGTGGCCTGCAGGTGGCTGGGAAGTGGAACTCGCAGAGGAAGCCATCGGCCTTCACTTCGCACTGCTGCTCCTCCCAGATCGGCTCGCTGGGCACAGTGGCCTCAGCAGCGGAGACAGCGACGCACAACGGGCCGCAGAGGGGAGCCCCATTGAGGTCGAGCCGTGCCCACCTGCTATAGCTGGTGTTGTTGTCTCCCGTAACCCACTGGAAGCCGCGCAGGGGCCCGAGGCGCTTGGGGTCGCCGCAGCCGGGTGGCAGCTGCAGGCCGATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGTTCAGTAGCAAGGAAATGACATCGGCAGCCACCGAGGAGCGCACTGTCATTAGGTGGCCCCGCAGTCCGTCGCAGATCTGACTGGCATTGAGGAAGGTCGCGGGGCCCGGGTAGAGCGCGAAGCAGTCGTGCTCGACGCACTGGCTGCCACCCGGCTGCGGCTCTGCGGGTGCGGGGAACCCCAGGCCGGCCAGGGCCAGCGCGCCAAGGACCAGGACCCCAAGCATGTTACCCAGGCGCGCCGCGTGCAGGCGCCGGGGAAAGCGCGGGCACTGCGACAGGGCCGTGCCGGAGCAGAGGGGCACAGGACGCCGATGGCGACAGCCTCTCCTGTCCGTCCCAGCCCAGACACTTCTTGCCGCTGCGCGCAGCCCCTGCGAGGCAGCCTCTGACATGCGGATCGGCCAGGGCTCGAGTTTATAAGTGCCCGGCCCTCCCTCCCTGGACGTTCGGGAAAAGGAAGGAAGTGCCTGGTGGGAAGGGCTGATGCCGCATACTCGGATTGCTGGGTTCTCTGGCCGCCCTTGCGCCCGCCCTCGCGCATGGGATCACCTCGCCGGGATGAGTAAACCCTGCCCTGGCGCAGGGAGGTTCTCGGGCGGGGCCGACAGGGGCAGGCGCCAGGGAAGGCCAGCACCCCTGTAACAAGACGACTGTCCCCGCCCACCACTCGGGCCCCCACGCGTGCAGCCCTCTTTCATCTCTTGGTCCTCCTTTCTTTCTTTTCATACATGTTACAGCCACTTCCAAGGAAAGCCTGGATTGCAAGAGCTCTGGGAACCGGAGACTTCAGAGAAGAGGGCTTTGAATGGGGAGTGGGGGAGGTGGTGCACAGGACCTGCAAGACGCTGGGAGGGGTGATCGGCACCAAGGGCACTTTGGGAGGACCTGCCTAGGACGTGGACTTCCCCGAAGACAGGATCGCAAGGAGAGACAGCTGGATCCTGTCCGCGGCCAAGGTGCCTGGCTCAGGAAACCAGCGGAGCGCGCTTGGCCTCACAGGACAGTGGGTGTGGCTGGGGTGACGGGGCAGGGTGGGGAAGACTGGCCTAACACCAGCGCCCTC |
Task1_train_27802 | A variant on Chromosome 20 in gene THBD (thrombomodulin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Thrombomodulin-related bleeding disorder | AGTTTGTAGAGAGAGAGAGACCGGAGAGCTGTGCAAAGTGGATACTGGAGACATACAGGTAAGAACAAAGGAAACAAACAAAAACCTAAATACTTAAAAAAAATAAATATTTTAGTCATCCCTAGCCCACGAGGTCAAGGTCTGCCCAGAAGGCTGCCGACCAATAACGCTCACCCTCCTGCGCCCGGTAGTGAGGACCTGGGACAAATCGCAGTCTGTGTCTTCGTTACAAAATTGCCATCATTGCCCAGTGGTCCAGTGACGTCACGGAAGAGGCCGAGGCTCATTCTCCTCCCTCTAATCACCCCCTCGCCAGTTAGCCATGGAATAGAAGAAAACAGCTTGGGGGGTGCGGGGAGGGTCTTCTCCAGCTGTAATGCCAGCTAAGGTGCTTTGGTAGCAAAGCTGGGGGTGAGGAGGCACAGGCTCCTGGACGGAGCCAGGCTCCTGGACGGAGGCCGCTCAGAGTCTCTGCGGCGTCCGCTCGGTCCGCACGTGCTGCAGCACTACCTCCTTGGAAGGGGCCGCGCACTTGTACTCCATCTTGGCCCTGGCGGCGCCCTGCTTCTTGCGCAGGTGGCAGAGGAGCGCCAAAAGCGCCACCACCAGGCACAGGCTCGCGATGGAGATGCCTATGAGCAAGCCCGAATGCACGAGCCCCACGGCCGGAGGAGTCAAGGTGGAGCCGGGCGTCGGGCTGGGCGGGGGCTCGCCAGAGCCGCTGTCGCCACCGTCCACCTTGCCGGAGTCACAGTCGGTGCCAATGTGGCGGGCAAGGGCCGAGTCGGGCCCGCAGATGCACTCGAAGGTACCGGGGAGGTTGTGGCACACCCCGGAGCAGAAGCCGCCGTTTTCGCACTCGTCGATGTCCGTGCAGATGAAACCGTCGTCCAGGATGTAGCCTTCAGGGCACTCACAGCTAGCCTGGGTGTTGGGGTCGCAGTCGGCTGGACAGGCAGTCTGGTTGCAAAACATCTGGCACCTGTGCGGCTCGTGGGGAATGGGCGCGAAGCCCTCGGCGCAGACGCAGAGGTAGCTAGTTTGGTTCAGGGGCTGGCACTGGTACTCGCAGTTGGCTCTGAAGCACGGGTCCACGGGCTCCACACACTCGCCGTCCACCAGGTCGTAGTTAGGGTAGCAGTGGCACTCGAAGCCACCCTGTGTGTTGACACAGCGCTGCGGACACGGACTGGGCTCCAGTATGCAGTCATCCACGTCCTCGCACCGGTGTTGGTCGGCCGCCAGCCGGTAGCCGGTCTCGCACATGCACGAGTAGGAGCCCGGCTGGTCGGGGTTGGGAACGCAGAAGTGCTCGCAGAGGTCGTTGCAGGACTGCGTCGCGGATGCGGTGCAGGAGCGCCCGTCTGCCTGCAGGGCGGCGCCGGCTGGGCACTGGCAGCGGGGAGCCCCAGGGATCGCATTGCACGCGTGCTCGCAGCCGCCGTTCTCCACGCTGCAGTCCCAAGCGCCCGGCGCCTCCCTGGCCCAGTGCCCCTGGACCGCTCCGGGCGGCGCGGTGCACATTAGCTGTAAGCCGAGGGGAGCCACCGCGGCGGAGCTGCCCACCGGCAGCGCCTGGAAGTCCGCTCCGCGGGCCGCGAACGGGGTGCCGTAGGTGATCGAGACGGCGGCAGCCGCGGCGCCGGGCTCCACAGCCAGTGGCCTGCAGGTGGCTGGGAAGTGGAACTCGCAGAGGAAGCCATCGGCCTTCACTTCGCACTGCTGCTCCTCCCAGATCGGCTCGCTGGGCACAGTGGCCTCAGCAGCGGAGACAGCGACGCACAACGGGCCGCAGAGGGGAGCCCCATTGAGGTCGAGCCGTGCCCACCTGCTATAGCTGGTGTTGTTGTCTCCCGTAACCCACTGGAAGCCGCGCAGGGGCCCGAGGCGCTTGGGGTCGCCGCAGCCGGGTGGCAGCTGCAGGCCGATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGTTCAGTAGCAAGGAAATGACATCGGCAGCCACCGAGGAGCGCACTGTCATTAGGTGGCCCCGCAGTCCGTCGCAGATCTGACTGGCATTGAGGAAGGTCGCGGGGCCCGGGTAGAGCGCGAAGCAGTCGTGCTCGACGCACTGGCTGCCACCCGGCTGCGGCTCTGCGGGTGCGGGGAACCCCAGGCCGGCCAGGGCCAGCGCGCCAAGGACCAGGACCCCAAGCATGTTACCCAGGCGCGCCGCGTGCAGGCGCCGGGGAAAGCGCGGGCACTGCGACAGGGCCGTGCCGGAGCAGAGGGGCACAGGACGCCGATGGCGACAGCCTCTCCTGTCCGTCCCAGCCCAGACACTTCTTGCCGCTGCGCGCAGCCCCTGCGAGGCAGCCTCTGACATGCGGATCGGCCAGGGCTCGAGTTTATAAGTGCCCGGCCCTCCCTCCCTGGACGTTCGGGAAAAGGAAGGAAGTGCCTGGTGGGAAGGGCTGATGCCGCATACTCGGATTGCTGGGTTCTCTGGCCGCCCTTGCGCCCGCCCTCGCGCATGGGATCACCTCGCCGGGATGAGTAAACCCTGCCCTGGCGCAGGGAGGTTCTCGGGCGGGGCCGACAGGGGCAGGCGCCAGGGAAGGCCAGCACCCCTGTAACAAGACGACTGTCCCCGCCCACCACTCGGGCCCCCACGCGTGCAGCCCTCTTTCATCTCTTGGTCCTCCTTTCTTTCTTTTCATACATGTTACAGCCACTTCCAAGGAAAGCCTGGATTGCAAGAGCTCTGGGAACCGGAGACTTCAGAGAAGAGGGCTTTGAATGGGGAGTGGGGGAGGTGGTGCACAGGACCTGCAAGACGCTGGGAGGGGTGATCGGCACCAAGGGCACTTTGGGAGGACCTGCCTAGGACGTGGACTTCCCCGAAGACAGGATCGCAAGGAGAGACAGCTGGATCCTGTCCGCGGCCAAGGTGCCTGGCTCAGGAAACCAGCGGAGCGCGCTTGGCCTCACAGGACAGTGGGTGTGGCTGGGGTGACGGGGCAGGGTGGGGAAGACTGGCCTAACACCAGCGCCCTCTGCCCCATGGCTGGCCAGGGACCCGCGAGTCCCTGGACACGCACTGGCCAACGCCAGACCCCATCTCATCGGGTGGGGAAGTCGCGGGGACACTGTCAGGGCGCCGAAGTCCGGACCCGGCTCAGAGGCGGTGGCAGGTGAATTGCTGCGGCGCCGGGTAGGGGCGGGCGCGTGGGAGCGAGTCAGCCTGGCCAGTTTCGGCCCAGCTTCCGAAGGATGGTGCTTCTTGCACCCCAACAGAGTGGCTGGCAACCCCCCAGGGGAGCGCGCAGGATCCCAGCTGATCCCACCCGGGTCGGCTAAGGAGGTTTCCATTTCGTCCAGAGTCCGAATTGATACCCACGTGCATAGAAACGCCACTTGCTCGGCAAAGGGCACTGAAGAGCCACCGTCCTGTGGATGGGCAGGGTGGGGGGGGGGCTGGAGGAGGACATGGGAATCCGTCACTTTCGACCTCTTCCGGTGGTTCACTTACCGGGAATGCGGAAGAGTGGGTCTCCCCCTCGGGTCGCCCCCATAATGGTGAGAGGCAAACTGTTTAAAAACACCCTTGCCTCTCTCCTCTACTGTCCTCACAACGAGCGCCAGGGGGCGGCGCTGTCGAGCTCTAAACAAAGCCAAGGAAGTTGGAGAAGTTTCGGGCTAAAAAGGGTTAAGGTGTAGGAGCACAGAGTCCTCCTTCTGGGGTTGGAAGCTCCGTTCCCGGGCAGCTCAGCGTGGATTCCGCTGCGTTCACCTCTTGCCTCCAGGGCCCAGTAGATCCTGGGCTTTAAACAAGAACAGAGAGTATGGCGTCTGCCACGTGCGACAGACACGCACCGGTGGGGTGGGCCGGGCTGGACTGGACTGACCTGCAGTGACCAAACGGGTGGGGCGTGGACACTCTGAAAGTGAAAAAGGCAAGCACGACTGTCCCGCCGCACACTCCCCAGCGCCTTGGGGCAGAGAGCCTCCAAACGTCCCGCTGAGTTGAGCTCTTCGCTGGGAAGGCCGCCCCAGCACCCAGGAAACGAAGGAGCTGCTGGACACGGGGGTCTGAAGCTCCCGGAATGCACACAGCTGCGCCT | AGTTTGTAGAGAGAGAGAGACCGGAGAGCTGTGCAAAGTGGATACTGGAGACATACAGGTAAGAACAAAGGAAACAAACAAAAACCTAAATACTTAAAAAAAATAAATATTTTAGTCATCCCTAGCCCACGAGGTCAAGGTCTGCCCAGAAGGCTGCCGACCAATAACGCTCACCCTCCTGCGCCCGGTAGTGAGGACCTGGGACAAATCGCAGTCTGTGTCTTCGTTACAAAATTGCCATCATTGCCCAGTGGTCCAGTGACGTCACGGAAGAGGCCGAGGCTCATTCTCCTCCCTCTAATCACCCCCTCGCCAGTTAGCCATGGAATAGAAGAAAACAGCTTGGGGGGTGCGGGGAGGGTCTTCTCCAGCTGTAATGCCAGCTAAGGTGCTTTGGTAGCAAAGCTGGGGGTGAGGAGGCACAGGCTCCTGGACGGAGCCAGGCTCCTGGACGGAGGCCGCTCAGAGTCTCTGCGGCGTCCGCTCGGTCCGCACGTGCTGCAGCACTACCTCCTTGGAAGGGGCCGCGCACTTGTACTCCATCTTGGCCCTGGCGGCGCCCTGCTTCTTGCGCAGGTGGCAGAGGAGCGCCAAAAGCGCCACCACCAGGCACAGGCTCGCGATGGAGATGCCTATGAGCAAGCCCGAATGCACGAGCCCCACGGCCGGAGGAGTCAAGGTGGAGCCGGGCGTCGGGCTGGGCGGGGGCTCGCCAGAGCCGCTGTCGCCACCGTCCACCTTGCCGGAGTCACAGTCGGTGCCAATGTGGCGGGCAAGGGCCGAGTCGGGCCCGCAGATGCACTCGAAGGTACCGGGGAGGTTGTGGCACACCCCGGAGCAGAAGCCGCCGTTTTCGCACTCGTCGATGTCCGTGCAGATGAAACCGTCGTCCAGGATGTAGCCTTCAGGGCACTCACAGCTAGCCTGGGTGTTGGGGTCGCAGTCGGCTGGACAGGCAGTCTGGTTGCAAAACATCTGGCACCTGTGCGGCTCGTGGGGAATGGGCGCGAAGCCCTCGGCGCAGACGCAGAGGTAGCTAGTTTGGTTCAGGGGCTGGCACTGGTACTCGCAGTTGGCTCTGAAGCACGGGTCCACGGGCTCCACACACTCGCCGTCCACCAGGTCGTAGTTAGGGTAGCAGTGGCACTCGAAGCCACCCTGTGTGTTGACACAGCGCTGCGGACACGGACTGGGCTCCAGTATGCAGTCATCCACGTCCTCGCACCGGTGTTGGTCGGCCGCCAGCCGGTAGCCGGTCTCGCACATGCACGAGTAGGAGCCCGGCTGGTCGGGGTTGGGAACGCAGAAGTGCTCGCAGAGGTCGTTGCAGGACTGCGTCGCGGATGCGGTGCAGGAGCGCCCGTCTGCCTGCAGGGCGGCGCCGGCTGGGCACTGGCAGCGGGGAGCCCCAGGGATCGCATTGCACGCGTGCTCGCAGCCGCCGTTCTCCACGCTGCAGTCCCAAGCGCCCGGCGCCTCCCTGGCCCAGTGCCCCTGGACCGCTCCGGGCGGCGCGGTGCACATTAGCTGTAAGCCGAGGGGAGCCACCGCGGCGGAGCTGCCCACCGGCAGCGCCTGGAAGTCCGCTCCGCGGGCCGCGAACGGGGTGCCGTAGGTGATCGAGACGGCGGCAGCCGCGGCGCCGGGCTCCACAGCCAGTGGCCTGCAGGTGGCTGGGAAGTGGAACTCGCAGAGGAAGCCATCGGCCTTCACTTCGCACTGCTGCTCCTCCCAGATCGGCTCGCTGGGCACAGTGGCCTCAGCAGCGGAGACAGCGACGCACAACGGGCCGCAGAGGGGAGCCCCATTGAGGTCGAGCCGTGCCCACCTGCTATAGCTGGTGTTGTTGTCTCCCGTAACCCACTGGAAGCCGCGCAGGGGCCCGAGGCGCTTGGGGTCGCCGCAGCCGGGTGGCAGCTGCAGGCCGATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGTTCAGTAGCAAGGAAATGACATCGGCAGCCACCGAGGAGCGCACTGTCATTAGGTGGCCCCGCAGTCCGTCGCAGATCTGACTGGTATTGAGGAAGGTCGCGGGGCCCGGGTAGAGCGCGAAGCAGTCGTGCTCGACGCACTGGCTGCCACCCGGCTGCGGCTCTGCGGGTGCGGGGAACCCCAGGCCGGCCAGGGCCAGCGCGCCAAGGACCAGGACCCCAAGCATGTTACCCAGGCGCGCCGCGTGCAGGCGCCGGGGAAAGCGCGGGCACTGCGACAGGGCCGTGCCGGAGCAGAGGGGCACAGGACGCCGATGGCGACAGCCTCTCCTGTCCGTCCCAGCCCAGACACTTCTTGCCGCTGCGCGCAGCCCCTGCGAGGCAGCCTCTGACATGCGGATCGGCCAGGGCTCGAGTTTATAAGTGCCCGGCCCTCCCTCCCTGGACGTTCGGGAAAAGGAAGGAAGTGCCTGGTGGGAAGGGCTGATGCCGCATACTCGGATTGCTGGGTTCTCTGGCCGCCCTTGCGCCCGCCCTCGCGCATGGGATCACCTCGCCGGGATGAGTAAACCCTGCCCTGGCGCAGGGAGGTTCTCGGGCGGGGCCGACAGGGGCAGGCGCCAGGGAAGGCCAGCACCCCTGTAACAAGACGACTGTCCCCGCCCACCACTCGGGCCCCCACGCGTGCAGCCCTCTTTCATCTCTTGGTCCTCCTTTCTTTCTTTTCATACATGTTACAGCCACTTCCAAGGAAAGCCTGGATTGCAAGAGCTCTGGGAACCGGAGACTTCAGAGAAGAGGGCTTTGAATGGGGAGTGGGGGAGGTGGTGCACAGGACCTGCAAGACGCTGGGAGGGGTGATCGGCACCAAGGGCACTTTGGGAGGACCTGCCTAGGACGTGGACTTCCCCGAAGACAGGATCGCAAGGAGAGACAGCTGGATCCTGTCCGCGGCCAAGGTGCCTGGCTCAGGAAACCAGCGGAGCGCGCTTGGCCTCACAGGACAGTGGGTGTGGCTGGGGTGACGGGGCAGGGTGGGGAAGACTGGCCTAACACCAGCGCCCTCTGCCCCATGGCTGGCCAGGGACCCGCGAGTCCCTGGACACGCACTGGCCAACGCCAGACCCCATCTCATCGGGTGGGGAAGTCGCGGGGACACTGTCAGGGCGCCGAAGTCCGGACCCGGCTCAGAGGCGGTGGCAGGTGAATTGCTGCGGCGCCGGGTAGGGGCGGGCGCGTGGGAGCGAGTCAGCCTGGCCAGTTTCGGCCCAGCTTCCGAAGGATGGTGCTTCTTGCACCCCAACAGAGTGGCTGGCAACCCCCCAGGGGAGCGCGCAGGATCCCAGCTGATCCCACCCGGGTCGGCTAAGGAGGTTTCCATTTCGTCCAGAGTCCGAATTGATACCCACGTGCATAGAAACGCCACTTGCTCGGCAAAGGGCACTGAAGAGCCACCGTCCTGTGGATGGGCAGGGTGGGGGGGGGGCTGGAGGAGGACATGGGAATCCGTCACTTTCGACCTCTTCCGGTGGTTCACTTACCGGGAATGCGGAAGAGTGGGTCTCCCCCTCGGGTCGCCCCCATAATGGTGAGAGGCAAACTGTTTAAAAACACCCTTGCCTCTCTCCTCTACTGTCCTCACAACGAGCGCCAGGGGGCGGCGCTGTCGAGCTCTAAACAAAGCCAAGGAAGTTGGAGAAGTTTCGGGCTAAAAAGGGTTAAGGTGTAGGAGCACAGAGTCCTCCTTCTGGGGTTGGAAGCTCCGTTCCCGGGCAGCTCAGCGTGGATTCCGCTGCGTTCACCTCTTGCCTCCAGGGCCCAGTAGATCCTGGGCTTTAAACAAGAACAGAGAGTATGGCGTCTGCCACGTGCGACAGACACGCACCGGTGGGGTGGGCCGGGCTGGACTGGACTGACCTGCAGTGACCAAACGGGTGGGGCGTGGACACTCTGAAAGTGAAAAAGGCAAGCACGACTGTCCCGCCGCACACTCCCCAGCGCCTTGGGGCAGAGAGCCTCCAAACGTCCCGCTGAGTTGAGCTCTTCGCTGGGAAGGCCGCCCCAGCACCCAGGAAACGAAGGAGCTGCTGGACACGGGGGTCTGAAGCTCCCGGAATGCACACAGCTGCGCCT |
Task1_train_27803 | A mutation on Chromosome 20 affecting CST3 (cystatin C) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary cerebral amyloid angiopathy, Icelandic type | ATGACCTGGCGAGCTCCACCGAGGCCTGGCCCCTGTCTATGGACACAGCCAGCTCCCTCCTCCTGGTCTGACCAGCAGCTCAGACCAAATCACCAGCCCAGCTTCTGGGGGCAGCAGCTTGGGCCCCTCCTCTCCCTGACCCCCTCACCAGGGGCTGCTGTGGCTCAATGCCTTGTTTCCCAGCCCCTGGCTGCTCTCCCTGCTCTGAGACTCAGGACTCCTATAGCAGCAGCTTGCCTGATGGCCTTGCTGTGGCCGCGTCAGCTCCCAGGTACTCCTCTCATCTTCACACCAGCAGGACAAGGAGGCTTCATAAAGGAACTGCGGAAACCCTGCCTGTGTGCACATCCCCAGACAGCCAAGAACTCAGAGGGAGCCGATGCTACTATTTTATTGCAGGAGGTGGGGGTGTATGCACCGCACACCGGGGCTATGAGAAGCAAGAAGGAAGGAGGGAGGGCAGAGCCCCTTGCTGAGCAACAAAGGCCGCCTGCTGCCTTCTCTGTCTGTCTCCTGGTGCAGGCACATGGGGAGACCTTCCCCAAGGCAGGGGCCACCAGTCCAGGGGTGGGAATACAGGGGGTGGGAGGTGTGCATAAGAGGTGATAGGCACAGGCCAGCCCGGTACAGACCCCTAGGCGTCCTGACAGGTGGATTTCGACAAGGTCATTGTGCCCTGCCAAGGCACAGCGTAGATCTGGAAAGAGCAGAATGCTTTCTGTGAAAGGAAACAGAGGGGACAATCAGTGTGGGTTACAGTTCAAAGCAGAAGATGCCCAGGCACGGGACATCAGAGTGGGAGTGAAGAAGGATGGAGGTGAAACACTGGGCCCTTATCTACCCCTCCACCCACCCCCGCTGATCCCAGAGCACCGCTGGACTGGGCAGTGACTGCTCCATCCCTCTCCCAGGGCTCCAACTCTACCTGGTGGCACTGGGCCCCCACCCCAGCCTGCAGGATTCCTGCCCCAGCACAGCCCTGTGAGGAGCAGCCTGTGCAAGGCCTCGGGAGCCCTAAGGGTACAGGGCAGGGGGAGGCAGCTCACTGCCCCCAGCTCCTTCCACCTCCAGCCCTCAGGCCAGCACTATGAAGGGCGAGAGGGAAGAACCCAGGGAACTGGAAATTCCAAGTCATAGCACATGGGGTGGTGAGGAGATGACAAGGAGAGTGTGGCTCTCCCCTGAGCAGAGACGTCACAAGAAATCCTGGGTCCTTGGAGAAGCTGGTGTTGGGTGAGCTGGGGCAGGTCTGAGGGTTTGGCTGCTAACAGGCCTCTACTACCCTCTAATCTGCTCAGCATGGCCGTGGCTGTGGGCAGGTGCCTAAGGCTGGGATTAGACAGAGCCCTTTCTCCCTGCCCAGCACCCAGCCCTGCAGCTGCTTCCTGCAGTCCAGTAGGCAACACTCCAAAGCACATAGGGTGGAGCTCCCAGTACCCCAATCCCAAGCTAAAGCCCTCTTAGCAAATCAAATTCATCACTCCTCTCCACACCACCCCGTCTACATGCACACACATAGGCATCTACATGAACTCACCCTAACCTTCACCCATACGGATCTATGCATGAATCCACATACTCCCTCATACATCTATCTACCCACATGCACACACACACACAGGGCAGGTAATTCCTCATAATACAGCATGTATGTTCACAGAAACCCCCATGTATGTGAATGTATGTGCACAGACACCCCCACACATATGTGCACACACATATACTCACACACCCACACCTATCCATGCATAAACCCCCACACTTCCCCAACACATCCACACACCCACTTGCACACACTCACGTGCACTTCCCCACACAAACCTATACTTGGAAACACATATGCATCTCCACGTGTACACACACTCAGGCACATGCACACGTACCCTGCAGAACATGTGCATCACACACACACACACACACACACACCCCTCTGCAGTGTATGACTGGCCCTGGACCCATATAAGGCACATACCCTTTTCAGATGTGGCTGGTCATGGAAGGGGCAGTTGTCCAAGTTGGGCTGGGTCTTGGTACACGTGGTTCGGCCCAGCTCCACGTCCAAGAAGTAGTTCACCCCAGCTACGATCTACACATGTGAAAGAGCAGGAGGCAGGGACAGCACGTTCTGTCAGTTTCTTACACACACAGGCACTTCACTGTGACCGGGTCACTGGGCTTGCCTGGGGCTTCAAGCCTACCTTCATGAGCTGCCCACATTGTCACCTGCAAGGCACACAAGCCACCTCCTCCTGCCAGCTGGCAGGGATGCCATGCCCCAGGCCTCCCCGGTAACTTGTTTCTCTATGCCAATGCCAAGGATTAACTGAATTCCGCTACCTATGACCCAGGGGGCAGGGACACTGGATCTATTCTAGGAAGGTTCTCATGTGATGATGAAATTTCGGCAAACTTCCAGTTCCTGGCATTCAGTCCACAGAGCATCTCATTCCTGCCATTTAACCCAGAGGTATTTTTCCTCATTTCTCACTAGGAGATGAGATGCTCACATACATTGATGTTTTAGGCCAATAAACATTGCTTCCCACGTGCTTCCATTCCAGGTGTGATTTTCAAGGCAATATTTCTAAAGTGAGTCACACACCTGCATGTCTTAGGGTTGCAACTTCAGAAGAGAACTGAATGCTTTCCCTGCACAGTGCCGCCCCAAAACATGACTTGTCAGAACTGTGGAGAAGCATGGGATGAGGGACCCTGGGACCAGGGTGCTAGACCTTGCCCTGTGGAACCACACACAAGTCCTGTAGAAGCACAAGCAAGGCCTGTGATCCCTCTGGTGTCAGTCTGCTCCTCTGTAAAATAGGCTCCAGGGCCCAACGATCTACAATGCCCCATGCTTCACTCCCAGTGAGAGAGAGGTGCAGGCCAGCGGGGACCCTACACCAGGGAATGGCCCTCCTGTGCAGGGAGAGGGCCCCAGCTGACGGCTGCGGGAGAAACGCGGCTGGTCTGGACTCCTCTGAATTTCCAAGAGAAGGTGGAGGAGCTCTAAAGTCTGTGTCACTGTTCGCTGCTCTGCCATGGGATGCAGGTCAAGCTGGGCCTGGTAGCCCTACTGAAGCTCCCTCCCGATCCGACCCCCTACTCCGGTCTGCTGGGTGTCTTCATCTGGCTGAGGTCTAACTCTGCATCAGCTGATAGAGGCAGGGTCAGGCATGCTCCACCCCAGCAGGGACTCAGCTGCCCTGGGATGTAGGGGGTGGTCAGCCGGCCTGAGGGTGAAGGCCGCTAGTCCTAGGGGACTGTGCCCAGGGGTGTGACTTGGGGAGGGAAGCAGGGCTCTGCAGGACAAGGTGCCAGGCTCACGTGTGGCCCCTGCGGAGAGTATTCTGGGAGGAGGATGAGCCGCATGGCCTAGATCTCATCTTGAGCAGCATCAAGCCCACCCAGAGTCAGCATAGTCTCCATCCACACCTGCTAGACCCTGGGAAATGGCACGGTCGTGGCACAGACCCAGCTGCTGCTGCAGGTTAAAAGAGGCCGAGGGGACAGGACAGGGCTGAACTCATGCACTCATGGCCCAGGAGCGTCCTAGGGCACGAAGGCCGTCAACAGACAGGGAAAGCTGAATGAGTCTGAGCATTAGATCATGAATGTGTCAGTGCTGATTTTCAAAATGGAATAGTGATTATGTGCGATATTGCCCTTGTTTTTAGGAAAAACACACTGAAGTGTTTACTTTCAAAAGATTCAGGCAAAAAATGCATATACAGTACATATACACACACCCATATTCACATTCGGAAAGTGAGCTGGGGGGAACAAACAGGGCAAAATGTTAACATCTGTGCTAACATCTGAGGGATCTGGGTGAAAGATCTACAGGGATGCCCTGTGCTATTTTGCAGCTGCTCTGTAAGTCTGAAATTACGGGAGAATAAAAAGTTAAAAGAAACAAAAGTGCTTAAAAATTATTTGGTGGAAGAACAAGGAGGCAGCCAGATGAGGGGCTCTGTTTTTCCTTCTCCTGCGTATTCAGCAGCGCACCCGGAGCCCAGCGTCCCAGGAGGTCGGGACAGAGCTGTGTGGGACGTCCTGTGCCTGCCCCCGCGCTGCGGCGCAGCTCGAGCTGGCTCCT | ATGACCTGGCGAGCTCCACCGAGGCCTGGCCCCTGTCTATGGACACAGCCAGCTCCCTCCTCCTGGTCTGACCAGCAGCTCAGACCAAATCACCAGCCCAGCTTCTGGGGGCAGCAGCTTGGGCCCCTCCTCTCCCTGACCCCCTCACCAGGGGCTGCTGTGGCTCAATGCCTTGTTTCCCAGCCCCTGGCTGCTCTCCCTGCTCTGAGACTCAGGACTCCTATAGCAGCAGCTTGCCTGATGGCCTTGCTGTGGCCGCGTCAGCTCCCAGGTACTCCTCTCATCTTCACACCAGCAGGACAAGGAGGCTTCATAAAGGAACTGCGGAAACCCTGCCTGTGTGCACATCCCCAGACAGCCAAGAACTCAGAGGGAGCCGATGCTACTATTTTATTGCAGGAGGTGGGGGTGTATGCACCGCACACCGGGGCTATGAGAAGCAAGAAGGAAGGAGGGAGGGCAGAGCCCCTTGCTGAGCAACAAAGGCCGCCTGCTGCCTTCTCTGTCTGTCTCCTGGTGCAGGCACATGGGGAGACCTTCCCCAAGGCAGGGGCCACCAGTCCAGGGGTGGGAATACAGGGGGTGGGAGGTGTGCATAAGAGGTGATAGGCACAGGCCAGCCCGGTACAGACCCCTAGGCGTCCTGACAGGTGGATTTCGACAAGGTCATTGTGCCCTGCCAAGGCACAGCGTAGATCTGGAAAGAGCAGAATGCTTTCTGTGAAAGGAAACAGAGGGGACAATCAGTGTGGGTTACAGTTCAAAGCAGAAGATGCCCAGGCACGGGACATCAGAGTGGGAGTGAAGAAGGATGGAGGTGAAACACTGGGCCCTTATCTACCCCTCCACCCACCCCCGCTGATCCCAGAGCACCGCTGGACTGGGCAGTGACTGCTCCATCCCTCTCCCAGGGCTCCAACTCTACCTGGTGGCACTGGGCCCCCACCCCAGCCTGCAGGATTCCTGCCCCAGCACAGCCCTGTGAGGAGCAGCCTGTGCAAGGCCTCGGGAGCCCTAAGGGTACAGGGCAGGGGGAGGCAGCTCACTGCCCCCAGCTCCTTCCACCTCCAGCCCTCAGGCCAGCACTATGAAGGGCGAGAGGGAAGAACCCAGGGAACTGGAAATTCCAAGTCATAGCACATGGGGTGGTGAGGAGATGACAAGGAGAGTGTGGCTCTCCCCTGAGCAGAGACGTCACAAGAAATCCTGGGTCCTTGGAGAAGCTGGTGTTGGGTGAGCTGGGGCAGGTCTGAGGGTTTGGCTGCTAACAGGCCTCTACTACCCTCTAATCTGCTCAGCATGGCCGTGGCTGTGGGCAGGTGCCTAAGGCTGGGATTAGACAGAGCCCTTTCTCCCTGCCCAGCACCCAGCCCTGCAGCTGCTTCCTGCAGTCCAGTAGGCAACACTCCAAAGCACATAGGGTGGAGCTCCCAGTACCCCAATCCCAAGCTAAAGCCCTCTTAGCAAATCAAATTCATCACTCCTCTCCACACCACCCCGTCTACATGCACACACATAGGCATCTACATGAACTCACCCTAACCTTCACCCATACGGATCTATGCATGAATCCACATACTCCCTCATACATCTATCTACCCACATGCACACACACACACAGGGCAGGTAATTCCTCATAATACAGCATGTATGTTCACAGAAACCCCCATGTATGTGAATGTATGTGCACAGACACCCCCACACATATGTGCACACACATATACTCACACACCCACACCTATCCATGCATAAACCCCCACACTTCCCCAACACATCCACACACCCACTTGCACACACTCACGTGCACTTCCCCACACAAACCTATACTTGGAAACACATATGCATCTCCACGTGTACACACACTCAGGCACATGCACACGTACCCTGCAGAACATGTGCATCACACACACACACACACACACACACCCCTCTGCAGTGTATGACTGGCCCTGGACCCATATAAGGCACATACCCTTTTCAGATGTGGCTGGTCATGGAAGGGGCAGTTGTCCAAGTTGGGCTGGGTCTTGGTACACGTGGTTCGGCCCTGCTCCACGTCCAAGAAGTAGTTCACCCCAGCTACGATCTACACATGTGAAAGAGCAGGAGGCAGGGACAGCACGTTCTGTCAGTTTCTTACACACACAGGCACTTCACTGTGACCGGGTCACTGGGCTTGCCTGGGGCTTCAAGCCTACCTTCATGAGCTGCCCACATTGTCACCTGCAAGGCACACAAGCCACCTCCTCCTGCCAGCTGGCAGGGATGCCATGCCCCAGGCCTCCCCGGTAACTTGTTTCTCTATGCCAATGCCAAGGATTAACTGAATTCCGCTACCTATGACCCAGGGGGCAGGGACACTGGATCTATTCTAGGAAGGTTCTCATGTGATGATGAAATTTCGGCAAACTTCCAGTTCCTGGCATTCAGTCCACAGAGCATCTCATTCCTGCCATTTAACCCAGAGGTATTTTTCCTCATTTCTCACTAGGAGATGAGATGCTCACATACATTGATGTTTTAGGCCAATAAACATTGCTTCCCACGTGCTTCCATTCCAGGTGTGATTTTCAAGGCAATATTTCTAAAGTGAGTCACACACCTGCATGTCTTAGGGTTGCAACTTCAGAAGAGAACTGAATGCTTTCCCTGCACAGTGCCGCCCCAAAACATGACTTGTCAGAACTGTGGAGAAGCATGGGATGAGGGACCCTGGGACCAGGGTGCTAGACCTTGCCCTGTGGAACCACACACAAGTCCTGTAGAAGCACAAGCAAGGCCTGTGATCCCTCTGGTGTCAGTCTGCTCCTCTGTAAAATAGGCTCCAGGGCCCAACGATCTACAATGCCCCATGCTTCACTCCCAGTGAGAGAGAGGTGCAGGCCAGCGGGGACCCTACACCAGGGAATGGCCCTCCTGTGCAGGGAGAGGGCCCCAGCTGACGGCTGCGGGAGAAACGCGGCTGGTCTGGACTCCTCTGAATTTCCAAGAGAAGGTGGAGGAGCTCTAAAGTCTGTGTCACTGTTCGCTGCTCTGCCATGGGATGCAGGTCAAGCTGGGCCTGGTAGCCCTACTGAAGCTCCCTCCCGATCCGACCCCCTACTCCGGTCTGCTGGGTGTCTTCATCTGGCTGAGGTCTAACTCTGCATCAGCTGATAGAGGCAGGGTCAGGCATGCTCCACCCCAGCAGGGACTCAGCTGCCCTGGGATGTAGGGGGTGGTCAGCCGGCCTGAGGGTGAAGGCCGCTAGTCCTAGGGGACTGTGCCCAGGGGTGTGACTTGGGGAGGGAAGCAGGGCTCTGCAGGACAAGGTGCCAGGCTCACGTGTGGCCCCTGCGGAGAGTATTCTGGGAGGAGGATGAGCCGCATGGCCTAGATCTCATCTTGAGCAGCATCAAGCCCACCCAGAGTCAGCATAGTCTCCATCCACACCTGCTAGACCCTGGGAAATGGCACGGTCGTGGCACAGACCCAGCTGCTGCTGCAGGTTAAAAGAGGCCGAGGGGACAGGACAGGGCTGAACTCATGCACTCATGGCCCAGGAGCGTCCTAGGGCACGAAGGCCGTCAACAGACAGGGAAAGCTGAATGAGTCTGAGCATTAGATCATGAATGTGTCAGTGCTGATTTTCAAAATGGAATAGTGATTATGTGCGATATTGCCCTTGTTTTTAGGAAAAACACACTGAAGTGTTTACTTTCAAAAGATTCAGGCAAAAAATGCATATACAGTACATATACACACACCCATATTCACATTCGGAAAGTGAGCTGGGGGGAACAAACAGGGCAAAATGTTAACATCTGTGCTAACATCTGAGGGATCTGGGTGAAAGATCTACAGGGATGCCCTGTGCTATTTTGCAGCTGCTCTGTAAGTCTGAAATTACGGGAGAATAAAAAGTTAAAAGAAACAAAAGTGCTTAAAAATTATTTGGTGGAAGAACAAGGAGGCAGCCAGATGAGGGGCTCTGTTTTTCCTTCTCCTGCGTATTCAGCAGCGCACCCGGAGCCCAGCGTCCCAGGAGGTCGGGACAGAGCTGTGTGGGACGTCCTGTGCCTGCCCCCGCGCTGCGGCGCAGCTCGAGCTGGCTCCT |
Task1_train_27804 | Gene ABHD12 (abhydrolase domain containing 12, lysophospholipase) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; PHARC syndrome | AGGACCACCACCACGATTTTATTCTTAAATAAAGCTCAGTCTAAGGCCAGGTTAGGTGTACAGGTAGGTGAAAGGGGAGGAAGTGCAGATCCCGGGCACTTCCACTGTGGGTGAGTGGGCCAGCCCAGGGGAGGTGGGGCAGCTGAGAAAGGCAAGCAGGTACACAGGGCAGGAGGGGACGATGGAACCACTGGAGTCATTCTGCATGTGCTGGGAAGGTGCAGAAAGAACCTGGACCCCACGTTCTCTGTGGGTGGTGCCAAAAAGCTCAGCATGGTCCCGAGCCCCAAGAGTCCCCTGCCCGGACTCCCCCTGTCCAGCTCAGTGCAGCATCAAGCAGGCAGTGATGGCTGCCTGCTGCCATTAAGTCTCCCAACAAGATCTCAGGTTGAGGGGCGGCAAGGAGAGCCACATGCCTGCCACCCACGCTTTCCACACAGCCATGCTCAGGCCTCCGGGCACTGCAGGCCTGCAGGGGCCTCCCCGCCTGGGATCTGAGGTGCTCTCCAGGTGCGAGCTGGGCTCCTGAGCATTGCAGGTGCCGGCCCCCCGGGGCTTCAGGATACCGGGCTGCTGACTGGAGGAAAACGGGAGGAGGGCAGAGGTCTTCATGCTTCCTTCCCACGGCCAGGCTCAGTGCTGGTGCTCAGGCTCCGACTTCCCCAGGAATTCCCTAGACCACAGGACAATCAGGAGCCAATCATTTGAGCTCAGACCAAAGATCCTTCTCCACAGTCCTCACACTGCTATCTAAGGAAGCAGAGGCTGTGCAGAGAGGAGGCAGCCAAGAGCCCCATGAGGATGCGCTGTAGCCCAGAGCAGCACTCAGTGAGTTAGGCAGGGAACAAGCAGTGTGGTGCCAAGTCAAAGCCCAACACACAGGCATGGAGACAAGGTCTCTGATTCTTGACCCTCAACTTCAGAGCTATTCTCTGGTCTAAATTTTCTACACATATCTTCCTTTTATAATGGGGAAAATTATAACCGCAAAGCAAACCCATACTCTGAGCCCACTGCCCCCTTAGCAACCCAGGTACCTGTGCTAAAGGGACACAGTTTTGCCTCTGGAACTTCCAAAGGCAACTGGAGAAAAGCAGAAGTTTGCAGTAGAATTACTCACGGGATATACAGCACTGGGAGGCAATTCAGGCCACCAATTTCAGTCCCCTGCAGGGAGAAACTGGCACCTTGACCTACTTTTTGGAGCTGACTGGCACAACACAACAAAAAACTCTATCACCATTAGCAGCAGCCCCTCCGTGGGTCCAGTGCTTAGGGTCGAAGTACCACATGCCCTCCTCGGCTCAGAAGCCTTGTCCCATGCACAGGGAGGGTTAGCATCTTGCCCAAGGCCACACAGCCAGGCAGTGGGGTGGGGGCCTGTGTCCTCTGACAGGCAGGTAGGCGAGTCTGGGCAGCAACCTGCATAGGGCCCAGGGCAGTACAGAGGAGGCCGGGGGTTGGTCCATTCCACACACTGCCCTTGTCACTACTGCCAAGGCCTCACCCTCAGGCTTGGGCTCTGCACTCAGGCCCAGGTGGGTACTCATGGCTCTCTGGGCTGGCGCCCATGTCCTGCCAGTGCAGGGCAGTCAGGAGCACCACGTCCCTTCAAGAAGCAGCTGGGGACAAAGAGGCTTTTGAGGAGCTGTGTACGTCTTGAGAGGTGTGTGGAAGAGATCCGAGGCCTGCAAGTGGCTGGGGTGTCTGTGTCTGAGTGTTCCCAAACATGGCCACCTGTGAGCGTGTGTGCCCCCCCGTGTGGGTCTGTACATCCTTTACAACATGGAGGCGGCTCACCCTGCATGATCATGTGAACAGTCCTGGAGCAGGAGAGAGGCACTCCCTCAAACCCCTCTGCCAAGGAAATGGAAGGCTCCCAAATCACTGTGACTCTTGGCCCCACTGAGGCCCCCTGAGCAGCTTCAGCAGCTGCCACCTGCTGCACGTTAGGTGTGAGCCAGTGCTGCCCAGACGAAGCCCCTGGGTGGGAAGAGAATGTCTCACCTCAGTATCCGTGGCAGCTCAGGGCTCTTGTAAATGTATTTGTGCCTGTAGCCAAGGTCTGAATGAAAGGGCACAAACTGAACTTTGAAATCTCGGAAGCTTCGAGCTGGTGCGGCGATGCTATAGAGCTGGGGAGAGAGGGGTCAGAGCCTGAGGCAGTGGCCTGGCATGGGGGTCCCAGCCTGAGGAACACCAGCTTGGCAGCCTCCCCTTCAATAGAAACCAGTCCAGAGTCCCACATACACTGCTTGTTGCCACAGCCGGTCACGACCAGGAGGCCCGGGGGTGGGCTGGGAGGAGCCAGGCCCCAGGCTTGGCTCCTGGGCACACACCACTCAAGATACTGTCCTCACACCTTATAGACTACCCTTCCTCTGGGGAGTGGCTAGGTGGATGAGCCAGACCAGGTGCCTGGGAGGCTCTGATGGCAGGGATGGCACAGTCTTGGGGAGCTGGGACAAAAGGTATGTGCCTCAGGCTTAGCTAAGATGGGCTTGATGTACCCATCTCAGCCCCCTCCCCCTCTCATTTCGGCAAGGGTAGGTGGGCCTGAGCTGTGCGCTGCTGGGCGGCTCTGCATTCTGCCCCTGCCCTGTGTGGCTCCGTCATCTGTGTGCCTTATGGAGCCTGACTGCATGGGGGCTGTCAGAGCAGGAAGTGCTCCCAGCCCTGGGCTGAATCCGTGGACGAGGCCTGCACACACCCAACTAGTTTGCCCTGCCATTACCAAGACCCAGGCTGCCTTCTCTTACCCTACTCTGAGCCACAAATCCAATCCAACTTGCTGACAGTCAAAGCAAATTCAGCAAAAGCAAACACTGAGGCCCCACAGACAGCATGGTCTGGTTCTGGTATCAGCGCAATTCCAAAGGCAAGGAAACAGGCTAGAAGTTTCTCTATCAATTTTGACTGTGACCCCTGCAATGGGCTTGGGAGATCCTCATCAAGGGGTTCTTTGCCTTCAGCCCATAACTGATGAGCCCTTCCAGCTGAGTTCCCAGGTTGGCCTGGGCTCTGATAACATAGGCAGCCCACTCTGATAACCCCTGTGTGAGGACTGGGAACTATCTGCTTATTTTTCATATTCTTGGAGACAGCATCAGTGGGCCCCTGCCCCAACCTTTACACCAGACCTCCCATGTCCTTCCGAAGCAGCCTGGAGGTGACGCAGGGAGGATGAGGTGGCCTCCTGAGCCTGACGTGGCTGGTGCGCAGCCCGTGATGCAGCATGCAGGGGCTGCCTTCCCGCCTGCCCACTCCCAGCCTGGTCCACCCACACTGGCTGAGTGTGCAAGATGCCAGCTACACCAGAGGCAGAGGCCAGGACCCACCTTTCTGCCAAGCTGGAAGGGCACCACCGGGTCGTCCTCAGCGTGCAGGATGAGCAGGGGACAGGAGATGTGCTTCACGCTGTAGGAGGGAGAAGGGGCTAGACCAAGACCAGGGAAAGGGCAGAGTTGCCCAGACCCTCTGTCCATGGCAGGGATCTGGGTTCAGGGTGTGTTTTGGGAAACAGCCTGATTTCTGCTGGATTTCTTTTTACTAGACAACTGAAAGTTAACTCTTCATTATCTCTATGAACATCTATTACAGCTAGATGACAGGTGTCAATCACAGCTATATAACTGGCCCTCGGAATGTCTTCTGAAAATTGAAAATGATTATTTTTCCACCAGATATATATATTTTTAAGCGGAATAATTCAGGTGGGCCAAGAAACTTAGTGTAAATGAATGTTACTAGGAATCTGTTGGTAAAAAAAGTCAATGTTCTCTAATTTATCTGTGTAAGTGACATTTATGGTCACTCCAACTCTAAACACTTAGAAGTGATTTAGGATTTTCAGTAGGTTTGATAGATCCAAATCCTTCAGCAAACCACATAACAGAAGCATGGGCTGCCAGGACCGGCGGAGCCTGGGCTCTCCTGTGCGGCCCTCACTGAGGTGGTGCCTGACCCAAGTCTCCTTTATCCCCAACAGGGCTGTGTGCTCCGTGAGGGCAGCGCTGGTGCACTCCTGGCACCTGGAGCAGGACCCGGTGGGGAGCCCCCGCCCTGTCTGTGCTGCTGGCAGGAGGCACACACTCTT | AGGACCACCACCACGATTTTATTCTTAAATAAAGCTCAGTCTAAGGCCAGGTTAGGTGTACAGGTAGGTGAAAGGGGAGGAAGTGCAGATCCCGGGCACTTCCACTGTGGGTGAGTGGGCCAGCCCAGGGGAGGTGGGGCAGCTGAGAAAGGCAAGCAGGTACACAGGGCAGGAGGGGACGATGGAACCACTGGAGTCATTCTGCATGTGCTGGGAAGGTGCAGAAAGAACCTGGACCCCACGTTCTCTGTGGGTGGTGCCAAAAAGCTCAGCATGGTCCCGAGCCCCAAGAGTCCCCTGCCCGGACTCCCCCTGTCCAGCTCAGTGCAGCATCAAGCAGGCAGTGATGGCTGCCTGCTGCCATTAAGTCTCCCAACAAGATCTCAGGTTGAGGGGCGGCAAGGAGAGCCACATGCCTGCCACCCACGCTTTCCACACAGCCATGCTCAGGCCTCCGGGCACTGCAGGCCTGCAGGGGCCTCCCCGCCTGGGATCTGAGGTGCTCTCCAGGTGCGAGCTGGGCTCCTGAGCATTGCAGGTGCCGGCCCCCCGGGGCTTCAGGATACCGGGCTGCTGACTGGAGGAAAACGGGAGGAGGGCAGAGGTCTTCATGCTTCCTTCCCACGGCCAGGCTCAGTGCTGGTGCTCAGGCTCCGACTTCCCCAGGAATTCCCTAGACCACAGGACAATCAGGAGCCAATCATTTGAGCTCAGACCAAAGATCCTTCTCCACAGTCCTCACACTGCTATCTAAGGAAGCAGAGGCTGTGCAGAGAGGAGGCAGCCAAGAGCCCCATGAGGATGCGCTGTAGCCCAGAGCAGCACTCAGTGAGTTAGGCAGGGAACAAGCAGTGTGGTGCCAAGTCAAAGCCCAACACACAGGCATGGAGACAAGGTCTCTGATTCTTGACCCTCAACTTCAGAGCTATTCTCTGGTCTAAATTTTCTACACATATCTTCCTTTTATAATGGGGAAAATTATAACCGCAAAGCAAACCCATACTCTGAGCCCACTGCCCCCTTAGCAACCCAGGTACCTGTGCTAAAGGGACACAGTTTTGCCTCTGGAACTTCCAAAGGCAACTGGAGAAAAGCAGAAGTTTGCAGTAGAATTACTCACGGGATATACAGCACTGGGAGGCAATTCAGGCCACCAATTTCAGTCCCCTGCAGGGAGAAACTGGCACCTTGACCTACTTTTTGGAGCTGACTGGCACAACACAACAAAAAACTCTATCACCATTAGCAGCAGCCCCTCCGTGGGTCCAGTGCTTAGGGTCGAAGTACCACATGCCCTCCTCGGCTCAGAAGCCTTGTCCCATGCACAGGGAGGGTTAGCATCTTGCCCAAGGCCACACAGCCAGGCAGTGGGGTGGGGGCCTGTGTCCTCTGACAGGCAGGTAGGCGAGTCTGGGCAGCAACCTGCATAGGGCCCAGGGCAGTACAGAGGAGGCCGGGGGTTGGTCCATTCCACACACTGCCCTTGTCACTACTGCCAAGGCCTCACCCTCAGGCTTGGGCTCTGCACTCAGGCCCAGGTGGGTACTCATGGCTCTCTGGGCTGGCGCCCATGTCCTGCCAGTGCAGGGCAGTCAGGAGCACCACGTCCCTTCAAGAAGCAGCTGGGGACAAAGAGGCTTTTGAGGAGCTGTGTACGTCTTGAGAGGTGTGTGGAAGAGATCCGAGGCCTGCAAGTGGCTGGGGTGTCTGTGTCTGAGTGTTCCCAAACATGGCCACCTGTGAGCGTGTGTGCCCCCCCGTGTGGGTCTGTACATCCTTTACAACATGGAGGCGGCTCACCCTGCATGATCATGTGAACAGTCCTGGAGCAGGAGAGAGGCACTCCCTCAAACCCCTCTGCCAAGGAAATGGAAGGCTCCCAAATCACTGTGACTCTTGGCCCCACTGAGGCCCCCTGAGCAGCTTCAGCAGCTGCCACCTGCTGCACGTTAGGTGTGAGCCAGTGCTGCCCAGACGAAGCCCCTGGGTGGGAAGAGAATGTCTCACCTCAGTATCCGTGGCAGCTCAGGGCTCTTGTAAATGTATTTCTGCCTGTAGCCAAGGTCTGAATGAAAGGGCACAAACTGAACTTTGAAATCTCGGAAGCTTCGAGCTGGTGCGGCGATGCTATAGAGCTGGGGAGAGAGGGGTCAGAGCCTGAGGCAGTGGCCTGGCATGGGGGTCCCAGCCTGAGGAACACCAGCTTGGCAGCCTCCCCTTCAATAGAAACCAGTCCAGAGTCCCACATACACTGCTTGTTGCCACAGCCGGTCACGACCAGGAGGCCCGGGGGTGGGCTGGGAGGAGCCAGGCCCCAGGCTTGGCTCCTGGGCACACACCACTCAAGATACTGTCCTCACACCTTATAGACTACCCTTCCTCTGGGGAGTGGCTAGGTGGATGAGCCAGACCAGGTGCCTGGGAGGCTCTGATGGCAGGGATGGCACAGTCTTGGGGAGCTGGGACAAAAGGTATGTGCCTCAGGCTTAGCTAAGATGGGCTTGATGTACCCATCTCAGCCCCCTCCCCCTCTCATTTCGGCAAGGGTAGGTGGGCCTGAGCTGTGCGCTGCTGGGCGGCTCTGCATTCTGCCCCTGCCCTGTGTGGCTCCGTCATCTGTGTGCCTTATGGAGCCTGACTGCATGGGGGCTGTCAGAGCAGGAAGTGCTCCCAGCCCTGGGCTGAATCCGTGGACGAGGCCTGCACACACCCAACTAGTTTGCCCTGCCATTACCAAGACCCAGGCTGCCTTCTCTTACCCTACTCTGAGCCACAAATCCAATCCAACTTGCTGACAGTCAAAGCAAATTCAGCAAAAGCAAACACTGAGGCCCCACAGACAGCATGGTCTGGTTCTGGTATCAGCGCAATTCCAAAGGCAAGGAAACAGGCTAGAAGTTTCTCTATCAATTTTGACTGTGACCCCTGCAATGGGCTTGGGAGATCCTCATCAAGGGGTTCTTTGCCTTCAGCCCATAACTGATGAGCCCTTCCAGCTGAGTTCCCAGGTTGGCCTGGGCTCTGATAACATAGGCAGCCCACTCTGATAACCCCTGTGTGAGGACTGGGAACTATCTGCTTATTTTTCATATTCTTGGAGACAGCATCAGTGGGCCCCTGCCCCAACCTTTACACCAGACCTCCCATGTCCTTCCGAAGCAGCCTGGAGGTGACGCAGGGAGGATGAGGTGGCCTCCTGAGCCTGACGTGGCTGGTGCGCAGCCCGTGATGCAGCATGCAGGGGCTGCCTTCCCGCCTGCCCACTCCCAGCCTGGTCCACCCACACTGGCTGAGTGTGCAAGATGCCAGCTACACCAGAGGCAGAGGCCAGGACCCACCTTTCTGCCAAGCTGGAAGGGCACCACCGGGTCGTCCTCAGCGTGCAGGATGAGCAGGGGACAGGAGATGTGCTTCACGCTGTAGGAGGGAGAAGGGGCTAGACCAAGACCAGGGAAAGGGCAGAGTTGCCCAGACCCTCTGTCCATGGCAGGGATCTGGGTTCAGGGTGTGTTTTGGGAAACAGCCTGATTTCTGCTGGATTTCTTTTTACTAGACAACTGAAAGTTAACTCTTCATTATCTCTATGAACATCTATTACAGCTAGATGACAGGTGTCAATCACAGCTATATAACTGGCCCTCGGAATGTCTTCTGAAAATTGAAAATGATTATTTTTCCACCAGATATATATATTTTTAAGCGGAATAATTCAGGTGGGCCAAGAAACTTAGTGTAAATGAATGTTACTAGGAATCTGTTGGTAAAAAAAGTCAATGTTCTCTAATTTATCTGTGTAAGTGACATTTATGGTCACTCCAACTCTAAACACTTAGAAGTGATTTAGGATTTTCAGTAGGTTTGATAGATCCAAATCCTTCAGCAAACCACATAACAGAAGCATGGGCTGCCAGGACCGGCGGAGCCTGGGCTCTCCTGTGCGGCCCTCACTGAGGTGGTGCCTGACCCAAGTCTCCTTTATCCCCAACAGGGCTGTGTGCTCCGTGAGGGCAGCGCTGGTGCACTCCTGGCACCTGGAGCAGGACCCGGTGGGGAGCCCCCGCCCTGTCTGTGCTGCTGGCAGGAGGCACACACTCTT |
Task1_train_27805 | Located on Chromosome 20, this mutation impacts KIF3B (kinesin family member 3B). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa 89 | CTTGGCTCTCTGCAACTTCTGCCTCCTAGGCTCAAGTGATTCTCGTGCCACGGCCCCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCCAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCACAAGGGATCCATCCACCTCGTTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGAGCCTGGTCATTATTTTTATTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGCGCAGTGCCAGGATCTCGGCCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCTGCCACCACACCCGGCTGATTTTTTGTATATTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGCTTATTTTACTTTATTTTTAAGATAGAGTCTCACTCTGTCATCCAGGCTGAAGGGCAGTGGCGTGATTGCGGCTTACTGTACCCTCAACCTCCTGGGCTCAAGCAGTCCTCCCATCTCAGCTTCCCGAGTAGCTAAGACTACAGGCATGAGCCACCGTGTGCAGCTAATTGTTGTTGGTATTTTTTTTTTTTTTTTTTGGAGAGATGGGGGCTCCCTATGTTGCCCAGGCTGATCTCAAACACCTGTACTCAAGTGATCCTCTGGCTTCAGCCTCCTAAAATGCTGGGATTACAGATGTGAGCTACTGTGTACAGCCTAATTCACAAATTTTTTGGAGACAGGATCTTGCTGTGTTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAAGGAATTTCCCTGCCTCGGCCTCCCAGAGTGAGACCCAGACTTAAAAGATTTCCAGCTGCCTCAGCCTATAGCATAAGATCAGATATTGATTGAGAGGAGGATGGGCTAGCCAACAACACTGGTGGACTGCAGTTTTTTATTTTTACCACTGAAGCTGGTTAAGATCCTGTGAGGAAATATACAGTGTAGTAAAGTTATCAGATATGGCTGTCAGGTTAGCAAGATGAAGACTATTTAGGTGTGTCAGCTTCTGTCAGGCAGGCTGCAATGACAACGGTACTGTGCTTATTTACTTTTGCTTTTTCTCTAGGACCGTAGCATCCTGAGACATTTTGAATTGACACTTCTCAAGATTTGACTGGATCAGAGTTCATCATGTCAAAGTTGAAAAGCTCAGAGTCAGTCAGGGTGGTGGTTCGCTGTCGGCCCATGAATGGCAAGGAAAAGGCTGCTTCGTATGACAAAGTGGTGGATGTGGATGTTAAGCTGGGGCAGGTGTCTGTGAAGAACCCCAAAGGGACGGCCCATGAAATGCCCAAGACCTTCACCTTTGATGCCGTCTATGACTGGAATGCCAAGCAGTTTGAACTGTACGATGAGACGTTCCGACCACTTGTTGACTCTGTCCTGCAAGGTTTCAATGGAACCATTTTTGCCTATGGACAAACTGGGACAGGAAAAACCTACACCATGGAAGGAATCCGTGGTGACCCTGAAAAAAGAGGAGTCATTCCTAACTCATTTGACCATATCTTCACCCACATCTCTCGATCCCAGAATCAACAATACCTGGTCAGGGCTTCTTACTTAGAGATCTACCAGGAGGAGATCCGAGATTTGCTCTCAAAGGATCAGACCAAAAGGCTTGAGCTCAAAGAGAGGCCTGACACAGGAGTGTATGTGAAAGACCTGTCTTCCTTTGTCACCAAGAGTGTGAAGGAGATAGAGCATGTGATGAATGTGGGGAACCAGAACCGTTCTGTCGGTGCTACCAACATGAACGAGCACAGCTCGCGTTCTCATGCAATTTTCGTTATCACTATTGAGTGCAGCGAGGTGGGCCTCGATGGTGAAAACCACATCCGTGTAGGAAAATTGAACCTTGTAGATCTTGCTGGCAGCGAACGGCAAGCCAAGACCGGCGCACAAGGGGAGAGATTAAAAGAAGCTACCAAGATCAACCTCTCCCTTTCCGCTTTGGGTAATGTCATCTCTGCTCTAGTGGACGGCAAAAGCACTCACATTCCATATCGGGACTCAAAGCTTACCAGGCTCCTCCAAGATTCCCTTGGTGGCAATGCCAAGACTGTGATGGTGGCCAACGTGGGGCCTGCCTCTTACAACGTAGAAGAGACTCTGACCACTCTGCGATATGCCAACCGTGCCAAAAACATTAAGAACAAACCAAGGGTCAATGAGGACCCCAAGGATGCCCTCCTTCGAGAATTCCAGGAAGAGATTGCTCGGCTCAAGGCCCAGCTGGAAAAACGGTCCATTGGTAGGAGGAAGAGGCGAGAGAAGCGGAGGGAAGGTGGTGGCAGTGGTGGGGGTGGGGAAGAGGAGGAGGAGGAGGGAGAAGAGGGTGAGGAGGAAGGGGATGATAAGGATGATTACTGGCGGGAACAGCAAGAAAAACTGGAGATTGAGAAGCGGGCCATTGTAGAGGATCACAGCTTGGTTGCAGAGGAGAAGATGAGGCTGCTGAAGGAGAAAGAGAAAAAGATGGAGGACCTGCGGCGGGAGAAGGATGCTGCCGAGATGCTGGGCGCCAAGATCAAGGTACCATACCCGTACCCTTCCTTAGGCCCTTGCCCTGTCACTGCTTTTGCTTTCATCAAACAACAACAAAAAACATAACCATATGAGGGATGATGTCTCTCATCAGTTTTGGATTTCCAACAGCTCATGATATCCAGTACTCAGTAAACCTCTGTTTAATTGACATGAATATGATTTTTTCACATTTACAAAAATGAAAATTGAATTCATAATGAGAATAATTATTATGTATGCACATAGTATAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCAATAAAAGTAACACCCACGTACCCCCCCACCCAGTGTAAGAAATAGAACAACATCCATTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCATCCGGGTTCAAGTGATTCTCTTGTCTCAGCCTCCAGAGTACCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCTGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGTCTCAGCCTCCCCAAGTGCTGGGATTACAGACGTGAGCCACCGTGTCCGGCTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTGAGACAGGATCTTGCTCTGTCAACCCTGGAGTGCAGTGGCCCAATCACTGCAGCCTTGACCTCCTAGGCTCAAAGGATCCTCCCACCTCAGCCTCCCAAGTAGCTAGGACTACAGGCACGCAACTTTGCCTGGCTAAATTTTTTAAATTTTTTGTAGAGACATGGTCTCACTATGTTGTTCAGGCTGGTCTCAAACTCCTGGGCTCGAATGATTCTCCCACCTCCCCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCTGATACCTATATCTTTAGTAGCTCCTTGCGTTTCCCTCCCCAACAGATAACCATCATCCTGAATTCGGTGTTTATTGTTTCCTTGCTTTTCCTTATAGTTTTACTTTCTACATGTATATTTCTAAAGAAAACATGGTTTCGTTTTCATATAATTTTTTGCTTTTATGTA | CTTGGCTCTCTGCAACTTCTGCCTCCTAGGCTCAAGTGATTCTCGTGCCACGGCCCCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCCAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCACAAGGGATCCATCCACCTCGTTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGAGCCTGGTCATTATTTTTATTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCACCCAGGCTGGAGCGCAGTGCCAGGATCTCGGCCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCTGCCACCACACCCGGCTGATTTTTTGTATATTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGCTTATTTTACTTTATTTTTAAGATAGAGTCTCACTCTGTCATCCAGGCTGAAGGGCAGTGGCGTGATTGCGGCTTACTGTACCCTCAACCTCCTGGGCTCAAGCAGTCCTCCCATCTCAGCTTCCCGAGTAGCTAAGACTACAGGCATGAGCCACCGTGTGCAGCTAATTGTTGTTGGTATTTTTTTTTTTTTTTTTTGGAGAGATGGGGGCTCCCTATGTTGCCCAGGCTGATCTCAAACACCTGTACTCAAGTGATCCTCTGGCTTCAGCCTCCTAAAATGCTGGGATTACAGATGTGAGCTACTGTGTACAGCCTAATTCACAAATTTTTTGGAGACAGGATCTTGCTGTGTTGCCCAAGCTGGTCTCAAACTCCTGGTCTCAAGGAATTTCCCTGCCTCGGCCTCCCAGAGTGAGACCCAGACTTAAAAGATTTCCAGCTGCCTCAGCCTATAGCATAAGATCAGATATTGATTGAGAGGAGGATGGGCTAGCCAACAACACTGGTGGACTGCAGTTTTTTATTTTTACCACTGAAGCTGGTTAAGATCCTGTGAGGAAATATACAGTGTAGTAAAGTTATCAGATATGGCTGTCAGGTTAGCAAGATGAAGACTATTTAGGTGTGTCAGCTTCTGTCAGGCAGGCTGCAATGACAACGGTACTGTGCTTATTTACTTTTGCTTTTTCTCTAGGACCGTAGCATCCTGAGACATTTTGAATTGACACTTCTCAAGATTTGACTGGATCAGAGTTCATCATGTCAAAGTTGAAAAGCTCAGAGTCAGTCAGGGTGGTGGTTCGCTGTCGGCCCATGAATGGCAAGGAAAAGGCTGCTTCGTATGACAAAGTGGTGGATGTGGATGTTAAGCTGGGGCAGGTGTCTGTGAAGAACCCCAAAGGGACGGCCCATGAAATGCCCAAGACCTTCACCTTTGATGCCGTCTATGACTGGAATGCCAAGCAGTTTGAACTGTACGATGAGACGTTCCGACCACTTGTTGACTCTGTCCTGCAAGGTTTCAATGGAACCATTTTTGCCTATGGACAAACTGGGACAGGAAAAACCTACACCATGGAAGGAATCCGTGGTGACCCTGAAAAAAGAGGAGTCATTCCTAACTCATTTGACCATATCTTCACCCACATCTCTCGATCCCAGAATCAACAATACCTGGTCAGGGCTTCTTACTTAGAGATCTACCAGGAGGAGATCCGAGATTTGCTCTCAAAGGATCAGACCAAAAGGCTTGAGCTCAAAGAGAGGCCTGACACAGGAGTGTATGTGAAAGACCTGTCTTCCTTTGTCACCAAGAGTGTGAAGGAGATAGAGCATGTGATGAATGTGGGGAACCAGAACCGTTCTGTCGGTGCTACCAACATGAACGAGCACAGCTCGCGTTCTCATGCAATTTTCGTTATCACTATTGAGTGCAGCGAGGTGGGCCTCGATGGTGAAAACCACATCCGTGTAGGAAAATTGAACCTTGTAGATCTTGCTGGCAGCCAACGGCAAGCCAAGACCGGCGCACAAGGGGAGAGATTAAAAGAAGCTACCAAGATCAACCTCTCCCTTTCCGCTTTGGGTAATGTCATCTCTGCTCTAGTGGACGGCAAAAGCACTCACATTCCATATCGGGACTCAAAGCTTACCAGGCTCCTCCAAGATTCCCTTGGTGGCAATGCCAAGACTGTGATGGTGGCCAACGTGGGGCCTGCCTCTTACAACGTAGAAGAGACTCTGACCACTCTGCGATATGCCAACCGTGCCAAAAACATTAAGAACAAACCAAGGGTCAATGAGGACCCCAAGGATGCCCTCCTTCGAGAATTCCAGGAAGAGATTGCTCGGCTCAAGGCCCAGCTGGAAAAACGGTCCATTGGTAGGAGGAAGAGGCGAGAGAAGCGGAGGGAAGGTGGTGGCAGTGGTGGGGGTGGGGAAGAGGAGGAGGAGGAGGGAGAAGAGGGTGAGGAGGAAGGGGATGATAAGGATGATTACTGGCGGGAACAGCAAGAAAAACTGGAGATTGAGAAGCGGGCCATTGTAGAGGATCACAGCTTGGTTGCAGAGGAGAAGATGAGGCTGCTGAAGGAGAAAGAGAAAAAGATGGAGGACCTGCGGCGGGAGAAGGATGCTGCCGAGATGCTGGGCGCCAAGATCAAGGTACCATACCCGTACCCTTCCTTAGGCCCTTGCCCTGTCACTGCTTTTGCTTTCATCAAACAACAACAAAAAACATAACCATATGAGGGATGATGTCTCTCATCAGTTTTGGATTTCCAACAGCTCATGATATCCAGTACTCAGTAAACCTCTGTTTAATTGACATGAATATGATTTTTTCACATTTACAAAAATGAAAATTGAATTCATAATGAGAATAATTATTATGTATGCACATAGTATAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCAATAAAAGTAACACCCACGTACCCCCCCACCCAGTGTAAGAAATAGAACAACATCCATTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACGTCTGCCATCCGGGTTCAAGTGATTCTCTTGTCTCAGCCTCCAGAGTACCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCTGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGTCTCAGCCTCCCCAAGTGCTGGGATTACAGACGTGAGCCACCGTGTCCGGCTTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTGAGACAGGATCTTGCTCTGTCAACCCTGGAGTGCAGTGGCCCAATCACTGCAGCCTTGACCTCCTAGGCTCAAAGGATCCTCCCACCTCAGCCTCCCAAGTAGCTAGGACTACAGGCACGCAACTTTGCCTGGCTAAATTTTTTAAATTTTTTGTAGAGACATGGTCTCACTATGTTGTTCAGGCTGGTCTCAAACTCCTGGGCTCGAATGATTCTCCCACCTCCCCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCTGATACCTATATCTTTAGTAGCTCCTTGCGTTTCCCTCCCCAACAGATAACCATCATCCTGAATTCGGTGTTTATTGTTTCCTTGCTTTTCCTTATAGTTTTACTTTCTACATGTATATTTCTAAAGAAAACATGGTTTCGTTTTCATATAATTTTTTGCTTTTATGTA |
Task1_train_27806 | The variant affects gene KIF3B (kinesin family member 3B), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa 89 | AAAAAAAAAAAAAGAATGTTAGAGTGGTTAGGTATTGTTAGGTATGTATGTGGAGTTTAGCAATCTAGTCCAGCCCCTTCATTCGAGAGGTGAGGAAACAGGCTCAGAGGACTCACTGAAAGATGGCAGCAGAGCTCCAGTGAGGTTTATAAGTTTCTTAAAAGTTGTGCAGTTTTGGGGTCCCATACTTTTTAGGTCAAAATCATTCTCATGGCTTCAGCCCCTATCAAAATGCTGAAGGCTCCCAATCTGTATATCTAGCCTAGCACTGTCTCCTGCCATCCAGGCCCATTGTATGTCTAGCCTAGCACTGTCTCCTGCCATCCAGGCCCAATAACCTTCTGCCCACTGGGATGCTCACAGCCACTCAGAGCCTGCTCTTGCCTTCCTTATCTCAGGGAAGCCAGACCCCTGGGAGTTATCCTTGCCAGCAGCCACTCCCTCTCACTTACAGCCAGGCCGTCCCAAAGCCTTTGGATCCTGCCTCATCAGGGTCTCTTGGACTCATCTACTCTGCCCTCCCCAACTAGGGAGGAGGCCTAGCCCAGGCCTAGACCCCTGCAGTGGCTTCCTGTCATGTCTCCCTCCATCCTGCCAGTCCTTTGCCATGCTTCCCATTGCAGGGGAGTAATGTTTCTAAAACACACATCTGATTGTGTAGCCTCATGCTCAAAAGAATATGTCAGTGGTTCCCCGAACTTCTCAGGATCAAGAAGTTTAGTCTCCTTGACAGGGATTTAGGTCAACTTCATCACTTCCCACCTTCCCCTCACAAAACAATCTTTTTTTCTTACCTAATTCCTATTTTTTAACTTCAGCTGTCTGTGTATCTGGCCCTGCAGACAGAAAGCTTTCTCTGACTCCCTCTAAAAGTCTGAATTCTCTGACTGGGCGCTGTGCTCATGCCTATAATCCCAGCAGTTTGAGAGGCCAAGGCAGAGGATCTCTTGAGGCCAGGAATTCAAGACCAGCCCAGACAACATAGCAAGATTTCACCTCTACAATCAATCAGTCAATCAACCAATCAGCCAAGTGTGGTGGTGTACACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACTAAGGAGGTCAAGGCTGCAGTGAGCTGTGATCGTGCCACCGCATTCCAGCTTGGGTGACAGAACTAGACCCTGTCTTTAAAAAATTTTAAAAAATCCCCACAGAGTCTGAATTCTATCCCATCAGTGTGCCTCTCCCATGAATTACTGTGTCCTTTCCTCATGATGGCATCTGGCGCCATATGGTTAAAGCCTGCTTGCTTGTCTGTTTTCCTCAGTGGACTCGGAGCTTTGTGATTCACACTCACATTGCATCCCCAGGACCTAACATAAAGGGTCTGCTTAATATGTTCTAAGTGGGGTTAATACTTTGTAGAAACAAGCAAAAAAAAAAAATTTGTTAAAGCTGAAATTCATGTATCTGAAGAAACTGTATCTTCAGTGTTACCAAGAAGCCTCTAGTGAAGCTGCCCCAGTCCCTCACCAGTGATGGATGGGCACAGCTGAGCACAGTGTATTTTTTCCCAGAGTTTGTCCCTTTTGGCTCAGTCCTGAGCTCTTTATCTTTCACAGGCTCCCCTGTGAGGAATTATGTTCTGAGAGAAACCGTTCATGAGATGGATTCTACTTTGTTTCTCACTCAGGCCATGGAGAGTAAGTTGCTTGTTGGAGGAAAAAATATAGTAGATCATACGAATGAACAGCAGAAAATCCTGGAGCAGAAACGACAGGAAATTGCAGAGCAGGTAACTTTTCATTCTTTTTCAGGGAGAATGGGTGAGGTAAGGTGTGTTTATGCTGCAGAGCAAACGTCTCATATTAGACTCTCTTCAAAGAGAATGAGAGCAAGGTGTGTCTGCCTCATCCTAGCTGGAGACTCTGATCCTAGCTTGGGGAACCCAGCATAGACACAGTCTCTAGGGCAAGCTGATGAATTTTGTCATGTTGCTCAGAAACGTCGAGAAAGAGAAATCCAGCAACAGATGGAAAGTCGAGATGAGGAGACCTTGGAACTTAAAGAGACATACAGCTCATTGCAGCAAGAGGTGGACATCAAGACCAAAAAACTCAAAAAGGTATGAAAGGAATGAGGCCAGATGGAGTTGCCTTGAGACTTGGGGAAAGGGAGAACTCTACCCTTTGGACAGACACCCTCCTCACCTGCCTCTCCCCTCATTCCAGCTCTTCTCCAAGCTTCAGGCAGTGAAGGCTGAGATCCATGACCTCCAAGAAGAACACATCAAGGAGCGCCAAGAGCTAGAGCAGACTCAGAATGAGCTCACCAGGGAGCTGAAACTCAAGTAAGTGCCAGGCCTTCCATAGTGCCCCCAAGCCACTTGCTGAGTCATTGATCTCGTTTGTTTAGTTAGAAACAGCCCTGGCTGGGCTTGGTGGCCTACGCCTGTAATCCCAGTGTTTTGGGAAGCGGAGGCGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAGAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGATAGGAGAATCGCTTGAACCCGGGAAGTGGAGATTGCGGTGAGTTGATATCGTGCCACTGCACTCCAGCCTGGGCGACGGAGTGAGAAAAAAACACAAAAAAAGAAATAGCCCTGAGGACAGGTCCTTCTCCAGCTCATCTCCTGCCACCCCATGTTCTGTTCATTCCTGAAAAAGTCACTTTCCATCTCTGGATCCCATCTGTTAACTGAATGACTTCATCAGGTGATCTCCAAGTTCCCTTCTAACCCTACCTTCTCGAAGCTTTTAAAGATTCTGGTCTTACATCTGTCTGATGATAAGAGGGAATATTTTATTAACTTGACTTTTTATTGTGACAATTTTCTGAATGGTATAATAAATACCCAAGTACCCATCACCCAGATTCAAGGATTAACAAGCTTTTGCCATCTATCTTTCACAAAAATATTTTAAAGCAAATCTTAACCTCATGTTATCTCACTCCTACATACTTATATATATATATATATGATCACAGTGGTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTATCACCCAGGCTGGAGTGCAGTGGCACAATCACAGTTCACAGCAGCCTGTAACTTGTGGGCTCAAACAGTCCTCCCACCTTAGCCTCCCGGGTAGCTGGAACTACAGGTGTGTGCCACTATGCCCAGCTAATTTTTAAAAAAAATTTTATAGAGATAGAGTCTCTCTATGTTACCTAAGCTGATCTCAAACTCCTAGGCTCAAGCAATCCTCCTGTTTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCCAGCCCACAATACTGTTTTTAAAAAAGCTTAATTGAGACATACTTCACATACCATACAATTCACATATTTAAAGTGTACAAATCAGTCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATCCAAAAATTAGCTGGGTGTGATGGCGTGTACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACCACTTTACTCAAGCCTGGGTGACACAGCGAGATTCTTGTCTCAAAAAAAAAAAAATTAAAAAATGATAAAGTATACAAATCAGTGTTTTTTTAAAAGCATATATATGCATAGGGCTATAAAACCACCACTACAATCTAATTTTAGAACATTTTTATTACTCTCCTCTAAAAGAAACTCTACCAGTTAGTAGTCACTCCTCATTACCCCCTTTCCCAACCCGAAGTAATCACTAATCTGCTTCCTGTCTCTATGGCTTTGCCTATTCTGGCCATCTCATATAAATGGAATCACACACTGTGTGGCCTTTTTGGCCTGGTGTCTTTTGCTTAGCATGACGCTTTCAAGGATCGTCCATGCCGTAGCATGGATCAACA | AAAAAAAAAAAAAGAATGTTAGAGTGGTTAGGTATTGTTAGGTATGTATGTGGAGTTTAGCAATCTAGTCCAGCCCCTTCATTCGAGAGGTGAGGAAACAGGCTCAGAGGACTCACTGAAAGATGGCAGCAGAGCTCCAGTGAGGTTTATAAGTTTCTTAAAAGTTGTGCAGTTTTGGGGTCCCATACTTTTTAGGTCAAAATCATTCTCATGGCTTCAGCCCCTATCAAAATGCTGAAGGCTCCCAATCTGTATATCTAGCCTAGCACTGTCTCCTGCCATCCAGGCCCATTGTATGTCTAGCCTAGCACTGTCTCCTGCCATCCAGGCCCAATAACCTTCTGCCCACTGGGATGCTCACAGCCACTCAGAGCCTGCTCTTGCCTTCCTTATCTCAGGGAAGCCAGACCCCTGGGAGTTATCCTTGCCAGCAGCCACTCCCTCTCACTTACAGCCAGGCCGTCCCAAAGCCTTTGGATCCTGCCTCATCAGGGTCTCTTGGACTCATCTACTCTGCCCTCCCCAACTAGGGAGGAGGCCTAGCCCAGGCCTAGACCCCTGCAGTGGCTTCCTGTCATGTCTCCCTCCATCCTGCCAGTCCTTTGCCATGCTTCCCATTGCAGGGGAGTAATGTTTCTAAAACACACATCTGATTGTGTAGCCTCATGCTCAAAAGAATATGTCAGTGGTTCCCCGAACTTCTCAGGATCAAGAAGTTTAGTCTCCTTGACAGGGATTTAGGTCAACTTCATCACTTCCCACCTTCCCCTCACAAAACAATCTTTTTTTCTTACCTAATTCCTATTTTTTAACTTCAGCTGTCTGTGTATCTGGCCCTGCAGACAGAAAGCTTTCTCTGACTCCCTCTAAAAGTCTGAATTCTCTGACTGGGCGCTGTGCTCATGCCTATAATCCCAGCAGTTTGAGAGGCCAAGGCAGAGGATCTCTTGAGGCCAGGAATTCAAGACCAGCCCAGACAACATAGCAAGATTTCACCTCTACAATCAATCAGTCAATCAACCAATCAGCCAAGTGTGGTGGTGTACACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACTAAGGAGGTCAAGGCTGCAGTGAGCTGTGATCGTGCCACCGCATTCCAGCTTGGGTGACAGAACTAGACCCTGTCTTTAAAAAATTTTAAAAAATCCCCACAGAGTCTGAATTCTATCCCATCAGTGTGCCTCTCCCATGAATTACTGTGTCCTTTCCTCATGATGGCATCTGGCGCCATATGGTTAAAGCCTGCTTGCTTGTCTGTTTTCCTCAGTGGACTCGGAGCTTTGTGATTCACACTCACATTGCATCCCCAGGACCTAACATAAAGGGTCTGCTTAATATGTTCTAAGTGGGGTTAATACTTTGTAGAAACAAGCAAAAAAAAAAAATTTGTTAAAGCTGAAATTCATGTATCTGAAGAAACTGTATCTTCAGTGTTACCAAGAAGCCTCTAGTGAAGCTGCCCCAGTCCCTCACCAGTGATGGATGGGCACAGCTGAGCACAGTGTATTTTTTCCCAGAGTTTGTCCCTTTTGGCTCAGTCCTGAGCTCTTTATCTTTCACAGGCTCCCCTGTGAGGAATTATGTTCTGAGAGAAACCGTTCATGAGATGGATTCTACTTTGTTTCTCACTCAGGCCATGGAGAGTAAGTTGCTTGTTGGAGGAAAAAATATAGTAGATCATACGAATGAACAGCAGAAAATCCTGGAGCAGAAACGACAGGAAATTGCAGAGCAGGTAACTTTTCATTCTTTTTCAGGGAGAATGGGTGAGGTAAGGTGTGTTTATGCTGCAGAGCAAACGTCTCATATTAGACTCTCTTCAAAGAGAATGAGAGCAAGGTGTGTCTGCCTCATCCTAGCTGGAGACTCTGATCCTAGCTTGGGGAACCCAGCATAGACACAGTCTCTAGGGCAAGCTGATGAATTTTGTCATGTTGCTCAGAAACGTCGAGAAAGAGAAATCCAGCAACAGATGGAAAGTCGAGATGAGGAGACCTTGGAACCTAAAGAGACATACAGCTCATTGCAGCAAGAGGTGGACATCAAGACCAAAAAACTCAAAAAGGTATGAAAGGAATGAGGCCAGATGGAGTTGCCTTGAGACTTGGGGAAAGGGAGAACTCTACCCTTTGGACAGACACCCTCCTCACCTGCCTCTCCCCTCATTCCAGCTCTTCTCCAAGCTTCAGGCAGTGAAGGCTGAGATCCATGACCTCCAAGAAGAACACATCAAGGAGCGCCAAGAGCTAGAGCAGACTCAGAATGAGCTCACCAGGGAGCTGAAACTCAAGTAAGTGCCAGGCCTTCCATAGTGCCCCCAAGCCACTTGCTGAGTCATTGATCTCGTTTGTTTAGTTAGAAACAGCCCTGGCTGGGCTTGGTGGCCTACGCCTGTAATCCCAGTGTTTTGGGAAGCGGAGGCGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAGAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGATAGGAGAATCGCTTGAACCCGGGAAGTGGAGATTGCGGTGAGTTGATATCGTGCCACTGCACTCCAGCCTGGGCGACGGAGTGAGAAAAAAACACAAAAAAAGAAATAGCCCTGAGGACAGGTCCTTCTCCAGCTCATCTCCTGCCACCCCATGTTCTGTTCATTCCTGAAAAAGTCACTTTCCATCTCTGGATCCCATCTGTTAACTGAATGACTTCATCAGGTGATCTCCAAGTTCCCTTCTAACCCTACCTTCTCGAAGCTTTTAAAGATTCTGGTCTTACATCTGTCTGATGATAAGAGGGAATATTTTATTAACTTGACTTTTTATTGTGACAATTTTCTGAATGGTATAATAAATACCCAAGTACCCATCACCCAGATTCAAGGATTAACAAGCTTTTGCCATCTATCTTTCACAAAAATATTTTAAAGCAAATCTTAACCTCATGTTATCTCACTCCTACATACTTATATATATATATATATGATCACAGTGGTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTATCACCCAGGCTGGAGTGCAGTGGCACAATCACAGTTCACAGCAGCCTGTAACTTGTGGGCTCAAACAGTCCTCCCACCTTAGCCTCCCGGGTAGCTGGAACTACAGGTGTGTGCCACTATGCCCAGCTAATTTTTAAAAAAAATTTTATAGAGATAGAGTCTCTCTATGTTACCTAAGCTGATCTCAAACTCCTAGGCTCAAGCAATCCTCCTGTTTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACACCCAGCCCACAATACTGTTTTTAAAAAAGCTTAATTGAGACATACTTCACATACCATACAATTCACATATTTAAAGTGTACAAATCAGTCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATCCAAAAATTAGCTGGGTGTGATGGCGTGTACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACCACTTTACTCAAGCCTGGGTGACACAGCGAGATTCTTGTCTCAAAAAAAAAAAAATTAAAAAATGATAAAGTATACAAATCAGTGTTTTTTTAAAAGCATATATATGCATAGGGCTATAAAACCACCACTACAATCTAATTTTAGAACATTTTTATTACTCTCCTCTAAAAGAAACTCTACCAGTTAGTAGTCACTCCTCATTACCCCCTTTCCCAACCCGAAGTAATCACTAATCTGCTTCCTGTCTCTATGGCTTTGCCTATTCTGGCCATCTCATATAAATGGAATCACACACTGTGTGGCCTTTTTGGCCTGGTGTCTTTTGCTTAGCATGACGCTTTCAAGGATCGTCCATGCCGTAGCATGGATCAACA |
Task1_train_27807 | A mutation on Chromosome 20 affecting ASXL1 (ASXL transcriptional regulator 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Bohring-Opitz syndrome | CTGATCATGTAGGAAGCCACTGCTTGGCACATACCCAGCTTCCAGATTCCCAAAAGGAAGGCAGGTGTTCAGCATAAGCCGTATTGTTTGCATAAACAATTTAGGCACAGTGAACAACTCATATCAGTTAGGGTGGTTGGGAACCCTCCTGAAATCTAAGTTCCCAGATGTCAGCCAAGGGCTGTTCTTTTAAGTAGGCCTTTCTAAGAGTAAACAATCAGGCCTACCTACTATGTTAACTTTTTATCTACACAGGAAATATGAATGGTTCTTTTGTTTGTTGTTTTGCTTTTTCGATCAAGGAGTTGCTTGGTCTCACTTTAAGGAAGAGTGAATTTCCCTTATAGTAGATGTGTTAGCTCTGTCCCTATAAGAGCATGATGTGAGAGAGCCTTTAGAAGAGACGTGTTGTTTTAAAACTGGGAGATTCAGCTGTCCATAAGACAGACATTAATATCCCGAATGCACTTACTAGAAGAGGTTTATTTCTCCCTAGGTGAATTTACTCATGAGATGCAAGTCAGGATACGACAGGAAATGGAGAAGGAAAAGAAGGTGGAACAATGGAAAGAAAAGTTCTTTGAAGACTACTATGGACAGAAGTAAGGCAGTTGGAGCTATGAGTCCTGGTCTGGGGTTTTGAGGGGATAGAGGTAGATGGTCTCAAAATAGCATATACTTATGTGTTGGACAAGAATGTGGAGATTGCAGTGACACTTGGGTCATTTATCTTAATGCCATTCATAGTGAAGCTAACAGAAGTTTTTCCATGGTTAGATTGTGCACCACACAGATTTATTTTGTTCTGAGATATCTGTGTTTCTGGGTCCATATTATTCATAGAAATAAGAGACATGTCCACTCTGGCCTGAAACTGATGGCTGTGATTTTGATTTGCAGGCTGGGTTTGACCAAAGAAGAGTCATTGCAGCAGAACGTGGGCCAGGAGGAGGCTGAAATCAAAAGTGGCTTGTGTGTCCCAGGAGAATCAGTGCGTATACAGCGTGGTCCAGCCACCCGACAGCGAGATGGGCATTTTAAGAAACGCTCTCGGCCAGATCTCCGAACCAGAGCCAGAAGGAATCTGTACAAAAAACAGGAGTCAGAACAAGCAGGGGTTGCTAAGGATGCAAAATCTGTGGCCTCAGATGTTCCCCTCTACAAGGATGGGGAGGCTAAGACTGACCCAGCAGGGCTGAGCAGTCCCCATCTGCCAGGCACATCCTCTGCAGCACCCGACCTGGAGGGTCCCGAATTCCCAGTTGAGTCTGTGGCTTCTCGGATCCAGGCTGAGCCAGACAACTTGGCACGTGCCTCTGCATCTCCAGACAGAATTCCTAGCCTGCCTCAGGAAACTGTGGATCAGGAACCCAAGGATCAGAAGAGGAAATCCTTTGAGCAGGCGGCCTCTGCATCCTTTCCCGAAAAGAAGCCCCGGCTTGAAGATCGTCAGTCCTTTCGTAACACAATTGAAAGTGTTCACACCGAAAAGCCACAGCCCACTAAAGAGGAGCCCAAAGTCCCGCCCATCCGGGTAGGAGACTGTTTGATTCCTGGCTGCCCTGGAGCCAGGTTTTCTTTGAGGGTCATGAGATTATAGAGCCCTTAACTCTGGGGCCCTGAAGTTAATTATGTGGGAATGTAGAGCTTTTTATGAGAGGTTTGCTTGAGACAGCCTTCAAGTTTAGTGAGATAGGTTCTTTTCTTCCTCACTTTTTTGTTCACTCTGTTGAAGTTATCTTGAGAGGTCAAAATCCTTTGGGGTTTTAAAATCTTTTTAAGATAGCATTAGATTCTTTGCTATAGTGACTCACACAGTCCCACCAGAAATTAAATTTAGAAGTGTGGCATATAACAGCCCTTGAGCAGAATCTTCTCTGAATGGTGTGTTATGGCGCCATTTTACTATGATGATTTCATTGTTTTAAGGAAATTATTTGATTCTGTATGCCATGACCCTTAAGCTACTAGAATCCTAGTTTTGCTTTACAGTCCCTAGGTCAGATCACCCAGTCAGTTAAAACTATTTTCTAATTCTTTTTTTGCAGATTCAACTTTCACGTATCAAACCACCCTGGGTGGTTAAAGGTCAGCCCACTTACCAGATATGCCCCCGGATCATCCCCACCACGGAGTCCTCCTGCCGGGGTTGGACTGGCGCCAGGACCCTCGCAGACATTAAAGCCCGTGCTCTGCAGGTCCGAGGGGCGAGAGGTCACCACTGCCATAGAGAGGCGGCCACCACTGCCATCGGAGGGGGGGGTGGCCCGGGTGGAGGTGGCGGCGGGGCCACCGATGAGGGAGGTGGCAGAGGCAGCAGCAGTGGTGATGGTGGTGAGGCCTGTGGCCACCCTGAGCCCAGGGGAGGCCCGAGCACCCCTGGAAAGTGTACGTCAGATCTACAGCGAACACAACTACTGCCGCCTTATCCTCTAAATGGGGAGCATACCCAGGCCGGAACTGCCATGTCCAGAGCTAGGAGAGAGGACCTGCCTTCTCTGAGAAAGGAGGAAAGCTGCCTACTACAGAGGGCTACAGTTGGACTCACAGATGGGCTAGGAGATGCCTCCCAACTCCCCGTTGCTCCCACTGGGGACCAGCCATGCCAGGCCTTGCCCCTACTGTCCTCCCAAACCTCAGTAGCTGAGAGATTAGTGGAGCAGCCTCAGTTGCATCCGGATGTTAGAACTGAATGTGAGTCTGGCACCACTTCCTGGGAAAGTGATGATGAGGAGCAAGGACCCACCGTTCCTGCAGACAATGGTCCCATTCCGTCTCTAGTGGGAGATGATACATTAGAGAAAGGAACTGGCCAAGCTCTTGACAGTCATCCCACTATGAAGGATCCTGTAAATGTGACCCCCAGTTCCACACCTGAATCCTCACCGACTGATTGCCTGCAGAACAGAGCATTTGATGACGAATTAGGGCTTGGTGGCTCATGCCCTCCTATGAGGGAAAGTGATACTAGACAAGAAAACTTGAAAACCAAGGCTCTCGTTTCTAACAGTTCTTTGCATTGGATACCCATCCCATCGAATGATGAGGTAGTGAAACAGCCCAAACCAGAATCCAGAGAACACATACCATCTGTTGAGCCCCAGGTTGGAGAGGAGTGGGAGAAAGCTGCTCCCACCCCTCCTGCATTGCCTGGGGATTTGACAGCTGAGGAGGGTCTAGATCCTCTTGACAGCCTTACTTCACTCTGGACTGTGCCATCTCGAGGAGGCAGTGACAGCAATGGCAGTTACTGTCAACAGGTGGACATTGAAAAGCTGAAAATCAACGGAGACTCTGAAGCACTGAGTCCTCACGGTGAGTCCACGGATACAGCCTCTGACTTTGAAGGTCACCTCACGGAGGACAGCAGTGAGGCTGACACTAGAGAAGCTGCAGTGACAAAGGGATCTTCGGTGGACAAGGATGAGAAACCCAATTGGAACCAATCTGCCCCACTGTCCAAGGTGAATGGTGACATGCGTCTGGTTACAAGGACAGATGGGATGGTTGCTCCTCAGAGCTGGGTGTCTCGAGTATGTGCGGTCCGCCAAAAGATCCCAGATTCCCTACTGCTGGCCAGTACTGAGTACCAGCCAAGAGCCGTGTGCCTGTCCATGCCTGGGTCCTCAGTGGAGGCCACTAACCCACTTGTGATGCAGTTGCTGCAGGGTAGCTTGCCCCTAGAGAAGGTTCTTCCACCAGCCCACGATGACAGCATGTCAGAATCCCCACAAGTACCACTTACAAAAGACCAGAGCCATGGCTCGCTACGCATGGGATCTTTACATGGTCTTGGAAAAAACAGTGGCATGGTTGATGGAAGCAGCCCCAGTTCTTTAAGGGCTTTGAAGGAGCCTCTTCTGCCAGATAGCTGTGAAACAGGCACTGGTCTTGCCAGGATTGAGGCCACCCAGGCTCCTGGAGCACCCCAAAAGAATTGCAAGGCAGTCCCAAGTTTTGACTCCCTCCATCCAGTGACAAATCCCATTACATCCTCTAGGAAACTGGAAGAAATGGATTCCAAAGAGCAGTTCTCTTCCTTTAGTTGTGAAGATCAGAAGGAAGTCCGTGCTATGTCACAGGACAGTAATTCAAA | CTGATCATGTAGGAAGCCACTGCTTGGCACATACCCAGCTTCCAGATTCCCAAAAGGAAGGCAGGTGTTCAGCATAAGCCGTATTGTTTGCATAAACAATTTAGGCACAGTGAACAACTCATATCAGTTAGGGTGGTTGGGAACCCTCCTGAAATCTAAGTTCCCAGATGTCAGCCAAGGGCTGTTCTTTTAAGTAGGCCTTTCTAAGAGTAAACAATCAGGCCTACCTACTATGTTAACTTTTTATCTACACAGGAAATATGAATGGTTCTTTTGTTTGTTGTTTTGCTTTTTCGATCAAGGAGTTGCTTGGTCTCACTTTAAGGAAGAGTGAATTTCCCTTATAGTAGATGTGTTAGCTCTGTCCCTATAAGAGCATGATGTGAGAGAGCCTTTAGAAGAGACGTGTTGTTTTAAAACTGGGAGATTCAGCTGTCCATAAGACAGACATTAATATCCCGAATGCACTTACTAGAAGAGGTTTATTTCTCCCTAGGTGAATTTACTCATGAGATGCAAGTCAGGATACGACAGGAAATGGAGAAGGAAAAGAAGGTGGAACAATGGAAAGAAAAGTTCTTTGAAGACTACTATGGACAGAAGTAAGGCAGTTGGAGCTATGAGTCCTGGTCTGGGGTTTTGAGGGGATAGAGGTAGATGGTCTCAAAATAGCATATACTTATGTGTTGGACAAGAATGTGGAGATTGCAGTGACACTTGGGTCATTTATCTTAATGCCATTCATAGTGAAGCTAACAGAAGTTTTTCCATGGTTAGATTGTGCACCACACAGATTTATTTTGTTCTGAGATATCTGTGTTTCTGGGTCCATATTATTCATAGAAATAAGAGACATGTCCACTCTGGCCTGAAACTGATGGCTGTGATTTTGATTTGCAGGCTGGGTTTGACCAAAGAAGAGTCATTGCAGCAGAACGTGGGCCAGGAGGAGGCTGAAATCAAAAGTGGCTTGTGTGTCCCAGGAGAATCAGTGCGTATACAGCGTGGTCCAGCCACCCGACAGCGAGATGGGCATTTTAAGAAACGCTCTCGGCCAGATCTCCGAACCAGAGCCAGAAGGAATCTGTACAAAAAACAGGAGTCAGAACAAGCAGGGGTTGCTAAGGATGCAAAATCTGTGGCCTCAGATGTTCCCCTCTACAAGGATGGGGAGGCTAAGACTGACCCAGCAGGGCTGAGCAGTCCCCATCTGCCAGGCACATCCTCTGCAGCACCCGACCTGGAGGGTCCCGAATTCCCAGTTGAGTCTGTGGCTTCTCGGATCCAGGCTGAGCCAGACAACTTGGCACGTGCCTCTGCATCTCCAGACAGAATTCCTAGCCTGCCTCAGGAAACTGTGGATCAGGAACCCAAGGATCAGAAGAGGAAATCCTTTGAGCAGGCGGCCTCTGCATCCTTTCCCGAAAAGAAGCCCCGGCTTGAAGATCGTCAGTCCTTTCGTAACACAATTGAAAGTGTTCACACCGAAAAGCCACAGCCCACTAAAGAGGAGCCCAAAGTCCCGCCCATCCGGGTAGGAGACTGTTTGATTCCTGGCTGCCCTGGAGCCAGGTTTTCTTTGAGGGTCATGAGATTATAGAGCCCTTAACTCTGGGGCCCTGAAGTTAATTATGTGGGAATGTAGAGCTTTTTATGAGAGGTTTGCTTGAGACAGCCTTCAAGTTTAGTGAGATAGGTTCTTTTCTTCCTCACTTTTTTGTTCACTCTGTTGAAGTTATCTTGAGAGGTCAAAATCCTTTGGGGTTTTAAAATCTTTTTAAGATAGCATTAGATTCTTTGCTATAGTGACTCACACAGTCCCACCAGAAATTAAATTTAGAAGTGTGGCATATAACAGCCCTTGAGCAGAATCTTCTCTGAATGGTGTGTTATGGCGCCATTTTACTATGATGATTTCATTGTTTTAAGGAAATTATTTGATTCTGTATGCCATGACCCTTAAGCTACTAGAATCCTAGTTTTGCTTTACAGTCCCTAGGTCAGATCACCCAGTCAGTTAAAACTATTTTCTAATTCTTTTTTTGCAGGTTCAACTTTCACGTATCAAACCACCCTGGGTGGTTAAAGGTCAGCCCACTTACCAGATATGCCCCCGGATCATCCCCACCACGGAGTCCTCCTGCCGGGGTTGGACTGGCGCCAGGACCCTCGCAGACATTAAAGCCCGTGCTCTGCAGGTCCGAGGGGCGAGAGGTCACCACTGCCATAGAGAGGCGGCCACCACTGCCATCGGAGGGGGGGGTGGCCCGGGTGGAGGTGGCGGCGGGGCCACCGATGAGGGAGGTGGCAGAGGCAGCAGCAGTGGTGATGGTGGTGAGGCCTGTGGCCACCCTGAGCCCAGGGGAGGCCCGAGCACCCCTGGAAAGTGTACGTCAGATCTACAGCGAACACAACTACTGCCGCCTTATCCTCTAAATGGGGAGCATACCCAGGCCGGAACTGCCATGTCCAGAGCTAGGAGAGAGGACCTGCCTTCTCTGAGAAAGGAGGAAAGCTGCCTACTACAGAGGGCTACAGTTGGACTCACAGATGGGCTAGGAGATGCCTCCCAACTCCCCGTTGCTCCCACTGGGGACCAGCCATGCCAGGCCTTGCCCCTACTGTCCTCCCAAACCTCAGTAGCTGAGAGATTAGTGGAGCAGCCTCAGTTGCATCCGGATGTTAGAACTGAATGTGAGTCTGGCACCACTTCCTGGGAAAGTGATGATGAGGAGCAAGGACCCACCGTTCCTGCAGACAATGGTCCCATTCCGTCTCTAGTGGGAGATGATACATTAGAGAAAGGAACTGGCCAAGCTCTTGACAGTCATCCCACTATGAAGGATCCTGTAAATGTGACCCCCAGTTCCACACCTGAATCCTCACCGACTGATTGCCTGCAGAACAGAGCATTTGATGACGAATTAGGGCTTGGTGGCTCATGCCCTCCTATGAGGGAAAGTGATACTAGACAAGAAAACTTGAAAACCAAGGCTCTCGTTTCTAACAGTTCTTTGCATTGGATACCCATCCCATCGAATGATGAGGTAGTGAAACAGCCCAAACCAGAATCCAGAGAACACATACCATCTGTTGAGCCCCAGGTTGGAGAGGAGTGGGAGAAAGCTGCTCCCACCCCTCCTGCATTGCCTGGGGATTTGACAGCTGAGGAGGGTCTAGATCCTCTTGACAGCCTTACTTCACTCTGGACTGTGCCATCTCGAGGAGGCAGTGACAGCAATGGCAGTTACTGTCAACAGGTGGACATTGAAAAGCTGAAAATCAACGGAGACTCTGAAGCACTGAGTCCTCACGGTGAGTCCACGGATACAGCCTCTGACTTTGAAGGTCACCTCACGGAGGACAGCAGTGAGGCTGACACTAGAGAAGCTGCAGTGACAAAGGGATCTTCGGTGGACAAGGATGAGAAACCCAATTGGAACCAATCTGCCCCACTGTCCAAGGTGAATGGTGACATGCGTCTGGTTACAAGGACAGATGGGATGGTTGCTCCTCAGAGCTGGGTGTCTCGAGTATGTGCGGTCCGCCAAAAGATCCCAGATTCCCTACTGCTGGCCAGTACTGAGTACCAGCCAAGAGCCGTGTGCCTGTCCATGCCTGGGTCCTCAGTGGAGGCCACTAACCCACTTGTGATGCAGTTGCTGCAGGGTAGCTTGCCCCTAGAGAAGGTTCTTCCACCAGCCCACGATGACAGCATGTCAGAATCCCCACAAGTACCACTTACAAAAGACCAGAGCCATGGCTCGCTACGCATGGGATCTTTACATGGTCTTGGAAAAAACAGTGGCATGGTTGATGGAAGCAGCCCCAGTTCTTTAAGGGCTTTGAAGGAGCCTCTTCTGCCAGATAGCTGTGAAACAGGCACTGGTCTTGCCAGGATTGAGGCCACCCAGGCTCCTGGAGCACCCCAAAAGAATTGCAAGGCAGTCCCAAGTTTTGACTCCCTCCATCCAGTGACAAATCCCATTACATCCTCTAGGAAACTGGAAGAAATGGATTCCAAAGAGCAGTTCTCTTCCTTTAGTTGTGAAGATCAGAAGGAAGTCCGTGCTATGTCACAGGACAGTAATTCAAA |
Task1_train_27808 | This variant lies on Chromosome 20 and affects the gene DNMT3B (DNA methyltransferase 3 beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | GCGGGTATGGCAACATTTCACTCTCTGAGAGTCCCTCGTCATTACCCATCATTTGTGCCTTTGTCATCTTTCTGTCTCTGGGACAGTTACAATGACTTTCTCCCCCCTTAAGGGATACGTGTTCCTGGAAAAGTTTCTTCAGCGGTCTCTGTTCTCTTTAACTTCAGTCTTTCCTCTTTCTTTTTGCCTAGGAGCCATATGGGGGTGCCGTTGGTCTCTGGTCACCGACATCCTTTGCTCTGGCCCAAACTATGTGTCCTTCTGTCCACAGTCCCTGAGACGGCGGGCAACAGCATCGGCAGGAACGCCATGGCCGTCCCCTCCCAGCTCTTACCTTACCATCGACCTCACAGACGACACAGAGGACACACATGGGACGCCCCAGAGCAGCAGTACCCCCTACGCCCGCCTAGCCCAGGACAGCCAGCAGGGGGGCATGGAGTCCCCGCAGGTGGAGGCAGACAGTGGAGATGGAGACAGTTCAGAGTATCAGGTATGGCCGAGAGGGGCTCCTGCCCAGGGTGACTGAGGACCCTGAACACGGGGAAAAACCAGTTACCTGCTACTGTTGGTAACAGAGCGACAACAGTTGTTAGAAGTTTCGTAATTGTAATAATTGACATGTTTGAATTCTAAGTATCTTCCATATGCACCACGGACCTTTCTTTACCTTAATCCTCTCCCAGACATAAGTCAAATGCCAGTATTTACCACGTGAATACTGTGGTTTTTCCCAACATGACATTTATGTAAGGACTGCAACTGCGTACGTTATACATTTCATGTACGCCCGTGTGAAGAGACCACCAAACAGGCTTTGTGTGAGCAATAAAGCTGTTTATTTCACCTGAGTGCAGGTGGGCTGAGTCCAAAAGAGAGTCAGCGAAGGGAGATAGGGGTGGGGCCATTTTCTAAGATTTGGGTAGGTAAAGGAAAATTACAGTCAAAGGGGGTTTGTTCTCTGGCGGGCAGGAGTGGGGGTCTCAAGGTGCTCAGTGGGGGAGTTTTTTGAGCCACGAGGAGCCAGGAAAAGGGATTTCACAAGGTAATGTCATCACTTAAGGCAAGGACCGGCCATTTATACTTCTTTTATGGTGGAATGTCATCAGTTAAGGTGGGGCAGGGCATATTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCATCTGGGCTTAAACGTGCAAGTCACAGGGGATGCGTGCAAGTCACAGGGGATGCGATGGCTTGGCTTGGGCTCAGAGGCCTGACAATACATATTGTGATTCTGTTCATCAGAGTGCACATACTGTATATATTGTACGTATGATACCTTTGTAGACTTGCTTTTTTCTTCTATTAAGAACTAGAGTTGCCTGAGGTTCATGTCTGGATAATAAATCCAGTGGTCTGGGTCATAGCTTAATTAACCGATTCAGGTTGTTTATGCTTATTCAAGCATTGCTGCACGAAGACTCCTTACACATGTATGTATTTATGTGTTGTTAGGATCCCTTTTTTCTATGTCCATTATTACATTTTACTTTGTATAGAAGGGATCTCACTATGGTGCCCAGGCTAGTCTCAAACTCCTGGCCTCAAGCGATCCTCCTATCTCAGCCTCCTGAGTAGCTAGGACTACAGGCGTGCACCACCAAGCCCAGCTACTTTATAAATTCTTTTGTGGAAATGGAGTCTTGCTGTGTTGCCCGGGCTGGTATCCAACTCCTGGCCTCAAGCGATCCCCCTGCCTCGGTCTCCCAAAGTACTGAGAATTACAGGCATGAACCACGGTGTCTGGCTACATCTTGCATTTTATGGCAAGCTTTTTGTTGCCCTCAGGGACAGTGGAGTGGACAGGACTTGGCCCAGGATGGCCTCTCCTCACTGGGATTTCTTCATGTGGGTTTTCTTCCAGGATGGGAAGGAGTTTGGAATAGGGGACCTCGTGTGGGGAAAGATCAAGGGCTTCTCCTGGTGGCCCGCCATGGTGGTGTCTTGGAAGGCCACCTCCAAGCGACAGGCTATGTCTGGCATGCGGTGGGTCCAGTGGTTTGGCGATGGCAAGTTCTCCGAGGTGAGTCCGGGGAAGGGCAAGGGGTTCTGCAGGCCTGAGGCTGTGCCTGCCTGCCTCCCTTTGAAGACAAAGGCCTGGGATTGTATTCTGCAGATGTGTGAGCCTATGCCTTCACACTGTCTGGGAGGAAGGACAAAACTTCCTGTGTTAACCAGCTACAGCAGATTCCACTCACACGGGGGACAAAAGTGCTAGAAAGTTCTGGATCCATGGGCAGTTGGATTTTATGTTATTTCTTAGATTTATCTTTTGGGGGCAGAATCATCAGTGTGGACTCTGAGGGGCCAGGAGTGGCCACGTGAGCAAGTACCCAAAAGTGTTCAGTGGAGAAGCCTGGAAGAGACCGGAAGCATGGCCGCGGCCTCTTGTCATTTAGCCCTGGGGAGAGAAAGGCATGGAGTTGGGTTTAGGGTCACCTGGTATCAGTTGTGAAAAGGGTTTTTAGTAGAATTGGGTATTTCAGAGTCTCTTGATGATTGATTCTAGCCTTTTAAAATCTTTCTTGGTAATGACATTTAGCTGGGGAAGAGCTGTGTTGGGCATAACTAGGCTGTTTTGATTCTTACACTCTTTCAACAAAGATTTTTTTGGGGGCGGTGAGAATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTGGCTGGGGTTACAGGCACCTGCCACCGCACCCTGCTAATATTTGCATTTTTAGTACAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTCGGCCTCCCAGTGCTGGGATTACAGGCGGGAGCCACCACGCCTGGCCTCAACAAAGATTTTAATCAGACAGACCTATCCTGTGATGGTCTCTTAGAAGTAAATGTTAGTCCTACCCTCAGAGCCCTGAGAGAGGCTAAGTTAGGTGCCTAAGGTCATTGGGCAAGTTGCAGCAGAAGCAAGCCAGGCAGGATTGAAGGAAGGACTGTACATTCCTGGGATTCAGCTCAAGCAGAGATTCTGTTTTTCCCAGGAATTGAGCTACCATGGGGCCATTTGCCATGAGCTAATTGAAGTTTCCCAAGGGCTACAATAATATATTGGGTGTGGAGTCTCCTTTGTAGGAGAGCCCCTGCATGCAGTTGCCTGCTGTGACCAGCAGAGGGAGGACAAGTCCTGGGCCCATGCTGGCAGTGAGGCAGCTGCTTCCAGGGATGGGAGAGCAGTAACTCAAGTGAAGGAAGATGGATTGTTTGCAATTGCTTTGCCCCATCGAGACATAAAATGCACTTTGCAAGATAGAGTCTGAGGCTAATACAATGCAGTGTGGGGCTGTCAGCATTAGGGGATGAGATGACAATATGGGACCTGGGTCTGGCCTGGGCAAGTGCCTGCTCAGCATGTGTACGCTGTTTGGGTTGTATTGGAGCTATTGGGCGCTGGAACCAGCACTTGTGTTGGAGCGGTTTCCCCCCACCAGAGCCACAGTGTTTTCTCCCCAGTGGTGGTCACACCCCCATATAGGAAATCAGGCATTCCGTGATAAAATGGAGGTTTGCATGAGTGTGAGCACTCTTTACGGAGACTAGAACATTCCCTGTGTCTTTCAGTTCCTTTTTTTTTTTAAGAGATGAGGTCCTCACTGTCACCCAGGCTGGAGTGCAGTGGCACTGTCTTGGCTCACTGCAGCCTCAATCACCTGGGCTCAAGCAATCCTTCTGCCTTAACAGAGCAGCTGAGACTGCAGGTGCACACCACTGTGTTTGGCTCTTAAAAGTTTTTGTAGAGATGGGGTCTTGCTGTGTTGTCCAGGCTAGTCGAACTCCTGGGCTCAAGCGATCCTCTCAACTCCCACTCCCAAAGTGCTGGGAATATAGGCCTGAGCCACTACGTCTGGCCTTTCAGTTCTGATTAGCATCCCTGAATGGCCATTTTCTCTCTCACTGGCAACTCAGTCAGTTCATGCTTGGTCCAGGGACTTGGTACATCAGG | GCGGGTATGGCAACATTTCACTCTCTGAGAGTCCCTCGTCATTACCCATCATTTGTGCCTTTGTCATCTTTCTGTCTCTGGGACAGTTACAATGACTTTCTCCCCCCTTAAGGGATACGTGTTCCTGGAAAAGTTTCTTCAGCGGTCTCTGTTCTCTTTAACTTCAGTCTTTCCTCTTTCTTTTTGCCTAGGAGCCATATGGGGGTGCCGTTGGTCTCTGGTCACCGACATCCTTTGCTCTGGCCCAAACTATGTGTCCTTCTGTCCACAGTCCCTGAGACGGCGGGCAACAGCATCGGCAGGAACGCCATGGCCGTCCCCTCCCAGCTCTTACCTTACCATCGACCTCACAGACGACACAGAGGACACACATGGGACGCCCCAGAGCAGCAGTACCCCCTACGCCCGCCTAGCCCAGGACAGCCAGCAGGGGGGCATGGAGTCCCCGCAGGTGGAGGCAGACAGTGGAGATGGAGACAGTTCAGAGTATCAGGTATGGCCGAGAGGGGCTCCTGCCCAGGGTGACTGAGGACCCTGAACACGGGGAAAAACCAGTTACCTGCTACTGTTGGTAACAGAGCGACAACAGTTGTTAGAAGTTTCGTAATTGTAATAATTGACATGTTTGAATTCTAAGTATCTTCCATATGCACCACGGACCTTTCTTTACCTTAATCCTCTCCCAGACATAAGTCAAATGCCAGTATTTACCACGTGAATACTGTGGTTTTTCCCAACATGACATTTATGTAAGGACTGCAACTGCGTACGTTATACATTTCATGTACGCCCGTGTGAAGAGACCACCAAACAGGCTTTGTGTGAGCAATAAAGCTGTTTATTTCACCTGAGTGCAGGTGGGCTGAGTCCAAAAGAGAGTCAGCGAAGGGAGATAGGGGTGGGGCCATTTTCTAAGATTTGGGTAGGTAAAGGAAAATTACAGTCAAAGGGGGTTTGTTCTCTGGCGGGCAGGAGTGGGGGTCTCAAGGTGCTCAGTGGGGGAGTTTTTTGAGCCACGAGGAGCCAGGAAAAGGGATTTCACAAGGTAATGTCATCACTTAAGGCAAGGACCGGCCATTTATACTTCTTTTATGGTGGAATGTCATCAGTTAAGGTGGGGCAGGGCATATTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCATCTGGGCTTAAACGTGCAAGTCACAGGGGATGCGTGCAAGTCACAGGGGATGCGATGGCTTGGCTTGGGCTCAGAGGCCTGACAATACATATTGTGATTCTGTTCATCAGAGTGCACATACTGTATATATTGTACGTATGATACCTTTGTAGACTTGCTTTTTTCTTCTATTAAGAACTAGAGTTGCCTGAGGTTCATGTCTGGATAATAAATCCAGTGGTCTGGGTCATAGCTTAATTAACCGATTCAGGTTGTTTATGCTTATTCAAGCATTGCTGCACGAAGACTCCTTACACATGTATGTATTTATGTGTTGTTAGGATCCCTTTTTTCTATGTCCATTATTACATTTTACTTTGTATAGAAGGGATCTCACTATGGTGCCCAGGCTAGTCTCAAACTCCTGGCCTCAAGCGATCCTCCTATCTCAGCCTCCTGAGTAGCTAGGACTACAGGCGTGCACCACCAAGCCCAGCTACTTTATAAATTCTTTTGTGGAAATGGAGTCTTGCTGTGTTGCCCGGGCTGGTATCCAACTCCTGGCCTCAAGCGATCCCCCTGCCTCGGTCTCCCAAAGTACTGAGAATTACAGGCATGAACCACGGTGTCTGGCTACATCTTGCATTTTATGGCAAGCTTTTTGTTGCCCTCAGGGACAGTGGAGTGGACAGGACTTGGCCCAGGATGGCCTCTCCTCACTGGGATTTCTTCATGTGGGTTTTCTTCCAGGATGGGAAGGAGTTTGGAATAGGGGACCTCGTGTGGGGAAAGATCAAGGGCTTCTCCTGGTGGCCCGCCATGGTGGTGTCTTGGAAGGCCACCTCCAAGCGACAGGCTATGTCTGGCATGCGGTGGGTCCAGTGGTTTGGCGATGGCAAGTTCCCCGAGGTGAGTCCGGGGAAGGGCAAGGGGTTCTGCAGGCCTGAGGCTGTGCCTGCCTGCCTCCCTTTGAAGACAAAGGCCTGGGATTGTATTCTGCAGATGTGTGAGCCTATGCCTTCACACTGTCTGGGAGGAAGGACAAAACTTCCTGTGTTAACCAGCTACAGCAGATTCCACTCACACGGGGGACAAAAGTGCTAGAAAGTTCTGGATCCATGGGCAGTTGGATTTTATGTTATTTCTTAGATTTATCTTTTGGGGGCAGAATCATCAGTGTGGACTCTGAGGGGCCAGGAGTGGCCACGTGAGCAAGTACCCAAAAGTGTTCAGTGGAGAAGCCTGGAAGAGACCGGAAGCATGGCCGCGGCCTCTTGTCATTTAGCCCTGGGGAGAGAAAGGCATGGAGTTGGGTTTAGGGTCACCTGGTATCAGTTGTGAAAAGGGTTTTTAGTAGAATTGGGTATTTCAGAGTCTCTTGATGATTGATTCTAGCCTTTTAAAATCTTTCTTGGTAATGACATTTAGCTGGGGAAGAGCTGTGTTGGGCATAACTAGGCTGTTTTGATTCTTACACTCTTTCAACAAAGATTTTTTTGGGGGCGGTGAGAATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTGGCTGGGGTTACAGGCACCTGCCACCGCACCCTGCTAATATTTGCATTTTTAGTACAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTCGGCCTCCCAGTGCTGGGATTACAGGCGGGAGCCACCACGCCTGGCCTCAACAAAGATTTTAATCAGACAGACCTATCCTGTGATGGTCTCTTAGAAGTAAATGTTAGTCCTACCCTCAGAGCCCTGAGAGAGGCTAAGTTAGGTGCCTAAGGTCATTGGGCAAGTTGCAGCAGAAGCAAGCCAGGCAGGATTGAAGGAAGGACTGTACATTCCTGGGATTCAGCTCAAGCAGAGATTCTGTTTTTCCCAGGAATTGAGCTACCATGGGGCCATTTGCCATGAGCTAATTGAAGTTTCCCAAGGGCTACAATAATATATTGGGTGTGGAGTCTCCTTTGTAGGAGAGCCCCTGCATGCAGTTGCCTGCTGTGACCAGCAGAGGGAGGACAAGTCCTGGGCCCATGCTGGCAGTGAGGCAGCTGCTTCCAGGGATGGGAGAGCAGTAACTCAAGTGAAGGAAGATGGATTGTTTGCAATTGCTTTGCCCCATCGAGACATAAAATGCACTTTGCAAGATAGAGTCTGAGGCTAATACAATGCAGTGTGGGGCTGTCAGCATTAGGGGATGAGATGACAATATGGGACCTGGGTCTGGCCTGGGCAAGTGCCTGCTCAGCATGTGTACGCTGTTTGGGTTGTATTGGAGCTATTGGGCGCTGGAACCAGCACTTGTGTTGGAGCGGTTTCCCCCCACCAGAGCCACAGTGTTTTCTCCCCAGTGGTGGTCACACCCCCATATAGGAAATCAGGCATTCCGTGATAAAATGGAGGTTTGCATGAGTGTGAGCACTCTTTACGGAGACTAGAACATTCCCTGTGTCTTTCAGTTCCTTTTTTTTTTTAAGAGATGAGGTCCTCACTGTCACCCAGGCTGGAGTGCAGTGGCACTGTCTTGGCTCACTGCAGCCTCAATCACCTGGGCTCAAGCAATCCTTCTGCCTTAACAGAGCAGCTGAGACTGCAGGTGCACACCACTGTGTTTGGCTCTTAAAAGTTTTTGTAGAGATGGGGTCTTGCTGTGTTGTCCAGGCTAGTCGAACTCCTGGGCTCAAGCGATCCTCTCAACTCCCACTCCCAAAGTGCTGGGAATATAGGCCTGAGCCACTACGTCTGGCCTTTCAGTTCTGATTAGCATCCCTGAATGGCCATTTTCTCTCTCACTGGCAACTCAGTCAGTTCATGCTTGGTCCAGGGACTTGGTACATCAGG |
Task1_train_27809 | This variant lies on Chromosome 20 and affects the gene DNMT3B, LOC126863014 (DNA methyltransferase 3 beta| CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:31385992-31387191). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Facioscapulohumeral muscular dystrophy 4, digenic | AGCTTCTCAAGGATTGTCACACCAGGGAGGTCCCCCTGCTCAGCGTTCTGCCTGACATCATCCTACTGGGGCAGCCCCTTGCCCATCTTGATGTTCCCCATCTGTGAAGTAGGGATGCCACCTGGAAGCATTGTTGAGTGGTAGAAGCTGTGAGGCATGGCCTGAGGTGCAAAGAGTCCTTGGCAAGCTGCTGGCCTGGAGGGAAATCTTAGGAACTGAGAGACCCCAGGCTTTAGCAGCTGGTGTCAGGGCCTCAACTGCCAAAAGCCACAACCCTGTTTTTCTTACAGATGGCTGTTTGTCTTGTGGCAGGAAAAACCCCGTGTCCTTCCACCCTCTCTTTGAGGGGGGGCTCTGTCAGACATGCCGGGTAAGTCCTCCTACTACTGCCCTGGACCTTCCTCCCCTTGCCTCCTCTAACTCCCCTCTCCTTCCCAACAGCACCTGTGTGGAGACTCAGTGAAGCCCACTCATCCCAGCTGCCTTGCACTCTGCCTCTGGGGCAGGATGGGGGACAGCTGTCACAGAGGCCAATGGCACGCAGGTCACAGCCAGTTGTCCTTTTAAAGGACACCAAGCCACCAGCAGTGTGTTCTGCAGCTGTATCCTAGGGCCTCCACCAGCAAGCCGGCAGGGCCTGCCCTTCTCTGGTCTCCGATTTCACTGGTGTTTCTCTCTGGCTGCCAGGATCGCTTCCTTGAGCTGTTTTACATGTATGATGACGATGGCTATCAGTCTTACTGCACTGTGTGCTGCGAGGGCCGAGAGCTGCTGCTTTGCAGCAACACGAGCTGCTGCCGGTGAGCACTGGGCCCTGTGGGGTGGATGTGGGTGGGCCCCCAAGGCTCCTACGTTCCTGCAGTCTGCAGACAGCTGTCTGTTGAATGGAATCCTAGGCATGGGAATAGGGAGCTAATTTGCCCTGGAAGCAGCACACAGGGTTTATATTTTGTGGTGGCTGTGGTTGTAGCATAATTGGAGTAGAACTCATGTATAGGGAACGGCTCTTTTTTTTGAGACAGGGTCTCCCTGTGTTGCCCAGGGTGTACAGTGACATGATCATAGGTCACTGCAGCCTCCAATTCCTGTGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAACAGCTTGATTATAGGCACATGCCATCACACCCAGCTAGTTATTCTTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTACAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGAATTATAAGTGCGGAGCACCACGCCCAGATAATTTTTGTGTTTTTAGTACAGACAGGGTTTCACCATGTTGACCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCCCAGCCTCTCAAATCCCAGCACTCCCAAAGTTCTGGGATTACAGTCATGATCCACCGTGCCTGGCCTATTTTTTGTAATAAATAAAAAGTGTAATAAACGCTGCCTCGGCTGGTCTCAAATCCCTGGGGTCAAGCCATTCTCCTACCTCAGCCTCCCAAAGCCCCAGAGTTGTAGGTGTGAGCCACCACACCCAGCTAGAAGTGCTCTTAATAGGCCAAGAGCATGAGGGAAGGGGATGAGTAGGGTGTCAGGGAAGGCTAATTCCCTGGTTTGCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGCACAGCGGCCGAGGCCAAGCTTCAGGAGCCCTGGAGCTGTTACATGTGTCTCCCGCAGCGCTGTCATGGCGTCCTGCGGCGCCGGAAGGACTGGAACGTGCGCCTGCAGGCCTTCTTCACCAGTGACACGGGGCTTGAATATGTAAGCCACAGGCTCCCGCCTCTACCACCACAGATCCCAGGGGCACAGGGTGTTGGAAAGCTCTGGAATTCTCAGAAAGAGTAATAGAAGTAAAGACACGTTGTACCTCTTGGAGCCTCAATGGCTGAGAGACCTGGCGAATTGCCAGCTCCTCTGCACGGTTTTCAGCCGTGCCAGGGTTCATTCACTCCCTCCTTGCCGGCTTCTCAGCGTATGGATTTTCAGGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAGAGCTTGAGTCTTTGCCCTGTGCCTTCACCACCATGACCTCCTTCCTTACCTGGCAGGAAGCCCCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTGTTTGATGGCATCGCGACAGGTGAGTTCGGGGAACACCTGGAGACACTGCTATCGTGTCACAACAGGGTAGCCAGGGAGTCAGAAGGCATGGTTAAGGTGTCTGACATCAGTGGCAAGAAAGGTCCCTGGGGATTACCAGCCCTGAAAAAAACCCTGTCTCCTTGTTTCTCTCCACCTTCTCAACCACCTTGCAGTCTTGGTCATTGAGTTTTATTTATTTATTTTTTCGAGATGGAGTCTCCCTTTGTCACCCAGGTTAGAGTGCAATGGCGTGATCTGTGCTCACTGCAGCCCCCATCTCCGAGGTTCAAGTGATTCTCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCACGCCCAGCTAATTTTTATATTTTTCGTAGAGACGGGGTTTCTCCACGTTGGTCAGGTTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGGCATCCCAAACCGCTGGGATTAGAGACATGAACCACCGTGCCTGGGCAGTCTTGGTCATTTTAAAAGGACATACATCTTAGCTGTTACACTTTATTTTTTATGTGCAGTTATCTTGAACTTGATTTTCATTCCACATGCATAAGTATAATTGGAGATAAACTAGTTAACAACTACTGCTACCTCTGGTTTTGGTTCCCTTCTTTTCCTCCTATATGGAGTTTACACAGCCAATATGTGTGGTGCGTGTACAGCCTTTGCTGGATTGAACGCATGTGATACAGTCATGAGGAACTGTTCATTTTACCATAGCAGGGAGTGGAGGAAATGAGCTGCTGTGTGCTCAGCATCATTTATGCTTCTGTGTCTCTCTGGCCCCCACAGGCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTGTTGGAACCGTGAAGCACGAGGGGAATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAATGTGAGGGCAGTCTGTACCTTGCGGGCCTCATCTCTTCCTGTCTTTTTCCCCAGTCCTCCACACCCTGAAACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGA | AGCTTCTCAAGGATTGTCACACCAGGGAGGTCCCCCTGCTCAGCGTTCTGCCTGACATCATCCTACTGGGGCAGCCCCTTGCCCATCTTGATGTTCCCCATCTGTGAAGTAGGGATGCCACCTGGAAGCATTGTTGAGTGGTAGAAGCTGTGAGGCATGGCCTGAGGTGCAAAGAGTCCTTGGCAAGCTGCTGGCCTGGAGGGAAATCTTAGGAACTGAGAGACCCCAGGCTTTAGCAGCTGGTGTCAGGGCCTCAACTGCCAAAAGCCACAACCCTGTTTTTCTTACAGATGGCTGTTTGTCTTGTGGCAGGAAAAACCCCGTGTCCTTCCACCCTCTCTTTGAGGGGGGGCTCTGTCAGACATGCCGGGTAAGTCCTCCTACTACTGCCCTGGACCTTCCTCCCCTTGCCTCCTCTAACTCCCCTCTCCTTCCCAACAGCACCTGTGTGGAGACTCAGTGAAGCCCACTCATCCCAGCTGCCTTGCACTCTGCCTCTGGGGCAGGATGGGGGACAGCTGTCACAGAGGCCAATGGCACGCAGGTCACAGCCAGTTGTCCTTTTAAAGGACACCAAGCCACCAGCAGTGTGTTCTGCAGCTGTATCCTAGGGCCTCCACCAGCAAGCCGGCAGGGCCTGCCCTTCTCTGGTCTCCGATTTCACTGGTGTTTCTCTCTGGCTGCCAGGATCGCTTCCTTGAGCTGTTTTACATGTATGATGACGATGGCTATCAGTCTTACTGCACTGTGTGCTGCGAGGGCCGAGAGCTGCTGCTTTGCAGCAACACGAGCTGCTGCCGGTGAGCACTGGGCCCTGTGGGGTGGATGTGGGTGGGCCCCCAAGGCTCCTACGTTCCTGCAGTCTGCAGACAGCTGTCTGTTGAATGGAATCCTAGGCATGGGAATAGGGAGCTAATTTGCCCTGGAAGCAGCACACAGGGTTTATATTTTGTGGTGGCTGTGGTTGTAGCATAATTGGAGTAGAACTCATGTATAGGGAACGGCTCTTTTTTTTGAGACAGGGTCTCCCTGTGTTGCCCAGGGTGTACAGTGACATGATCATAGGTCACTGCAGCCTCCAATTCCTGTGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAACAGCTTGATTATAGGCACATGCCATCACACCCAGCTAGTTATTCTTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTACAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGAATTATAAGTGCGGAGCACCACGCCCAGATAATTTTTGTGTTTTTAGTACAGACAGGGTTTCACCATGTTGACCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCCCAGCCTCTCAAATCCCAGCACTCCCAAAGTTCTGGGATTACAGTCATGATCCACCGTGCCTGGCCTATTTTTTGTAATAAATAAAAAGTGTAATAAACGCTGCCTCGGCTGGTCTCAAATCCCTGGGGTCAAGCCATTCTCCTACCTCAGCCTCCCAAAGCCCCAGAGTTGTAGGTGTGAGCCACCACACCCAGCTAGAAGTGCTCTTAATAGGCCAAGAGCATGAGGGAAGGGGATGAGTAGGGTGTCAGGGAAGGCTAATTCCCTGGTTTGCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGCACAGCGGCCGAGGCCAAGCTTCAGGAGCCCTGGAGCTGTTACATGCGTCTCCCGCAGCGCTGTCATGGCGTCCTGCGGCGCCGGAAGGACTGGAACGTGCGCCTGCAGGCCTTCTTCACCAGTGACACGGGGCTTGAATATGTAAGCCACAGGCTCCCGCCTCTACCACCACAGATCCCAGGGGCACAGGGTGTTGGAAAGCTCTGGAATTCTCAGAAAGAGTAATAGAAGTAAAGACACGTTGTACCTCTTGGAGCCTCAATGGCTGAGAGACCTGGCGAATTGCCAGCTCCTCTGCACGGTTTTCAGCCGTGCCAGGGTTCATTCACTCCCTCCTTGCCGGCTTCTCAGCGTATGGATTTTCAGGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAGAGCTTGAGTCTTTGCCCTGTGCCTTCACCACCATGACCTCCTTCCTTACCTGGCAGGAAGCCCCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTGTTTGATGGCATCGCGACAGGTGAGTTCGGGGAACACCTGGAGACACTGCTATCGTGTCACAACAGGGTAGCCAGGGAGTCAGAAGGCATGGTTAAGGTGTCTGACATCAGTGGCAAGAAAGGTCCCTGGGGATTACCAGCCCTGAAAAAAACCCTGTCTCCTTGTTTCTCTCCACCTTCTCAACCACCTTGCAGTCTTGGTCATTGAGTTTTATTTATTTATTTTTTCGAGATGGAGTCTCCCTTTGTCACCCAGGTTAGAGTGCAATGGCGTGATCTGTGCTCACTGCAGCCCCCATCTCCGAGGTTCAAGTGATTCTCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCACGCCCAGCTAATTTTTATATTTTTCGTAGAGACGGGGTTTCTCCACGTTGGTCAGGTTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGGCATCCCAAACCGCTGGGATTAGAGACATGAACCACCGTGCCTGGGCAGTCTTGGTCATTTTAAAAGGACATACATCTTAGCTGTTACACTTTATTTTTTATGTGCAGTTATCTTGAACTTGATTTTCATTCCACATGCATAAGTATAATTGGAGATAAACTAGTTAACAACTACTGCTACCTCTGGTTTTGGTTCCCTTCTTTTCCTCCTATATGGAGTTTACACAGCCAATATGTGTGGTGCGTGTACAGCCTTTGCTGGATTGAACGCATGTGATACAGTCATGAGGAACTGTTCATTTTACCATAGCAGGGAGTGGAGGAAATGAGCTGCTGTGTGCTCAGCATCATTTATGCTTCTGTGTCTCTCTGGCCCCCACAGGCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTGTTGGAACCGTGAAGCACGAGGGGAATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAATGTGAGGGCAGTCTGTACCTTGCGGGCCTCATCTCTTCCTGTCTTTTTCCCCAGTCCTCCACACCCTGAAACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGA |
Task1_train_27810 | This mutation occurs in DNMT3B (DNA methyltransferase 3 beta) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | GGAAGGCTAATTCCCTGGTTTGCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGCACAGCGGCCGAGGCCAAGCTTCAGGAGCCCTGGAGCTGTTACATGTGTCTCCCGCAGCGCTGTCATGGCGTCCTGCGGCGCCGGAAGGACTGGAACGTGCGCCTGCAGGCCTTCTTCACCAGTGACACGGGGCTTGAATATGTAAGCCACAGGCTCCCGCCTCTACCACCACAGATCCCAGGGGCACAGGGTGTTGGAAAGCTCTGGAATTCTCAGAAAGAGTAATAGAAGTAAAGACACGTTGTACCTCTTGGAGCCTCAATGGCTGAGAGACCTGGCGAATTGCCAGCTCCTCTGCACGGTTTTCAGCCGTGCCAGGGTTCATTCACTCCCTCCTTGCCGGCTTCTCAGCGTATGGATTTTCAGGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAGAGCTTGAGTCTTTGCCCTGTGCCTTCACCACCATGACCTCCTTCCTTACCTGGCAGGAAGCCCCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTGTTTGATGGCATCGCGACAGGTGAGTTCGGGGAACACCTGGAGACACTGCTATCGTGTCACAACAGGGTAGCCAGGGAGTCAGAAGGCATGGTTAAGGTGTCTGACATCAGTGGCAAGAAAGGTCCCTGGGGATTACCAGCCCTGAAAAAAACCCTGTCTCCTTGTTTCTCTCCACCTTCTCAACCACCTTGCAGTCTTGGTCATTGAGTTTTATTTATTTATTTTTTCGAGATGGAGTCTCCCTTTGTCACCCAGGTTAGAGTGCAATGGCGTGATCTGTGCTCACTGCAGCCCCCATCTCCGAGGTTCAAGTGATTCTCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCACGCCCAGCTAATTTTTATATTTTTCGTAGAGACGGGGTTTCTCCACGTTGGTCAGGTTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGGCATCCCAAACCGCTGGGATTAGAGACATGAACCACCGTGCCTGGGCAGTCTTGGTCATTTTAAAAGGACATACATCTTAGCTGTTACACTTTATTTTTTATGTGCAGTTATCTTGAACTTGATTTTCATTCCACATGCATAAGTATAATTGGAGATAAACTAGTTAACAACTACTGCTACCTCTGGTTTTGGTTCCCTTCTTTTCCTCCTATATGGAGTTTACACAGCCAATATGTGTGGTGCGTGTACAGCCTTTGCTGGATTGAACGCATGTGATACAGTCATGAGGAACTGTTCATTTTACCATAGCAGGGAGTGGAGGAAATGAGCTGCTGTGTGCTCAGCATCATTTATGCTTCTGTGTCTCTCTGGCCCCCACAGGCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTGTTGGAACCGTGAAGCACGAGGGGAATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAATGTGAGGGCAGTCTGTACCTTGCGGGCCTCATCTCTTCCTGTCTTTTTCCCCAGTCCTCCACACCCTGAAACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGG | GGAAGGCTAATTCCCTGGTTTGCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGCACAGCGGCCGAGGCCAAGCTTCAGGAGCCCTGGAGCTGTTACATGTGTCTCCCGCAGCGCTGTCATGGCGTCCTGCGGCGCCGGAAGGACTGGAACGTGCGCCTGCAGGCCTTCTTCACCAGTGACACGGGGCTTGAATATGTAAGCCACAGGCTCCCGCCTCTACCACCACAGATCCCAGGGGCACAGGGTGTTGGAAAGCTCTGGAATTCTCAGAAAGAGTAATAGAAGTAAAGACACGTTGTACCTCTTGGAGCCTCAATGGCTGAGAGACCTGGCGAATTGCCAGCTCCTCTGCACGGTTTTCAGCCGTGCCAGGGTTCATTCACTCCCTCCTTGCCGGCTTCTCAGCGTATGGATTTTCAGGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAGAGCTTGAGTCTTTGCCCTGTGCCTTCACCACCATGACCTCCTTCCTTACCTGGCAGGAAGCCCCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTGTTTGATGGCATCGCGACAGGTGAGTTCGGGGAACACCTGGAGACACTGCTATCGTGTCACAACAGGGTAGCCAGGGAGTCAGAAGGCATGGTTAAGGTGTCTGACATCAGTGGCAAGAAAGGTCCCTGGGGATTACCAGCCCTGAAAAAAACCCTGTCTCCTTGTTTCTCTCCACCTTCTCAACCACCTTGCAGTCTTGGTCATTGAGTTTTATTTATTTATTTTTTCGAGATGGAGTCTCCCTTTGTCACCCAGGTTAGAGTGCAATGGCGTGATCTGTGCTCACTGCAGCCCCCATCTCCGAGGTTCAAGTGATTCTCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCACGCCCAGCTAATTTTTATATTTTTCGTAGAGACGGGGTTTCTCCACGTTGGTCAGGTTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGGCATCCCAAACCGCTGGGATTAGAGACATGAACCACCGTGCCTGGGCAGTCTTGGTCATTTTAAAAGGACATACATCTTAGCTGTTACACTTTATTTTTTATGTGCAGTTATCTTGAACTTGATTTTCATTCCACATGCATAAGTATAATTGGAGATAAACTAGTTAACAACTACTGCTACCTCTGGTTTTGGTTCCCTTCTTTTCCTCCTATATGGAGTTTACACAGCCAATATGTGTGGTGCGTGTACAGCCTTTGCTGGATTGAACGCATGTGATACAGTCATGAGGAACTGTTCATTTTACCATAGCAGGGAGTGGAGGAAATGAGCTGCTGTGTGCTCAGCATCATTTATGCTTCTGTGTCTCTCTGGCCCCCACAGGCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGCGTGTGAGGAGTCCATTGCTGTTGGAACCGTGAAGCACGAGGGGAATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAATGTGAGGGCAGTCTGTACCTTGCGGGCCTCATCTCTTCCTGTCTTTTTCCCCAGTCCTCCACACCCTGAAACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGG |
Task1_train_27811 | A genomic change on Chromosome 20 affects DNMT3B (DNA methyltransferase 3 beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | GCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGCACAGCGGCCGAGGCCAAGCTTCAGGAGCCCTGGAGCTGTTACATGTGTCTCCCGCAGCGCTGTCATGGCGTCCTGCGGCGCCGGAAGGACTGGAACGTGCGCCTGCAGGCCTTCTTCACCAGTGACACGGGGCTTGAATATGTAAGCCACAGGCTCCCGCCTCTACCACCACAGATCCCAGGGGCACAGGGTGTTGGAAAGCTCTGGAATTCTCAGAAAGAGTAATAGAAGTAAAGACACGTTGTACCTCTTGGAGCCTCAATGGCTGAGAGACCTGGCGAATTGCCAGCTCCTCTGCACGGTTTTCAGCCGTGCCAGGGTTCATTCACTCCCTCCTTGCCGGCTTCTCAGCGTATGGATTTTCAGGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAGAGCTTGAGTCTTTGCCCTGTGCCTTCACCACCATGACCTCCTTCCTTACCTGGCAGGAAGCCCCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTGTTTGATGGCATCGCGACAGGTGAGTTCGGGGAACACCTGGAGACACTGCTATCGTGTCACAACAGGGTAGCCAGGGAGTCAGAAGGCATGGTTAAGGTGTCTGACATCAGTGGCAAGAAAGGTCCCTGGGGATTACCAGCCCTGAAAAAAACCCTGTCTCCTTGTTTCTCTCCACCTTCTCAACCACCTTGCAGTCTTGGTCATTGAGTTTTATTTATTTATTTTTTCGAGATGGAGTCTCCCTTTGTCACCCAGGTTAGAGTGCAATGGCGTGATCTGTGCTCACTGCAGCCCCCATCTCCGAGGTTCAAGTGATTCTCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCACGCCCAGCTAATTTTTATATTTTTCGTAGAGACGGGGTTTCTCCACGTTGGTCAGGTTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGGCATCCCAAACCGCTGGGATTAGAGACATGAACCACCGTGCCTGGGCAGTCTTGGTCATTTTAAAAGGACATACATCTTAGCTGTTACACTTTATTTTTTATGTGCAGTTATCTTGAACTTGATTTTCATTCCACATGCATAAGTATAATTGGAGATAAACTAGTTAACAACTACTGCTACCTCTGGTTTTGGTTCCCTTCTTTTCCTCCTATATGGAGTTTACACAGCCAATATGTGTGGTGCGTGTACAGCCTTTGCTGGATTGAACGCATGTGATACAGTCATGAGGAACTGTTCATTTTACCATAGCAGGGAGTGGAGGAAATGAGCTGCTGTGTGCTCAGCATCATTTATGCTTCTGTGTCTCTCTGGCCCCCACAGGCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTGTTGGAACCGTGAAGCACGAGGGGAATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAATGTGAGGGCAGTCTGTACCTTGCGGGCCTCATCTCTTCCTGTCTTTTTCCCCAGTCCTCCACACCCTGAAACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGGTCTTTCCTGTTTTGGAGGATC | GCCAGTTGGCCTGTAATCCAAAGTGTCCATGGAATGAAGTAGGTTGTCGGGAGAGCATTTCTGATCAGAGAGCCTGTGGGATTAAGGGGGTTGGGGCATCCAAGGAAGACGTCAGGGAAGCCCGTACTGCACAGGGCCCCGCAGGCTATGCTGTTAAGCAGCCGATCCTAGGTAAGCTTTCAGGAGGGGGTTGGCATTTCCCTGTGGAAGTGGTAAGGGGGTGGCACAGGAGACCAGCTCTGACAAAGGCATCCCTTCTCCCTGCCACTGGGTCCAGGTGTTTCTGTGTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGCACAGCGGCCGAGGCCAAGCTTCAGGAGCCCTGGAGCTGTTACATGTGTCTCCCGCAGCGCTGTCATGGCGTCCTGCGGCGCCGGAAGGACTGGAACGTGCGCCTGCAGGCCTTCTTCACCAGTGACACGGGGCTTGAATATGTAAGCCACAGGCTCCCGCCTCTACCACCACAGATCCCAGGGGCACAGGGTGTTGGAAAGCTCTGGAATTCTCAGAAAGAGTAATAGAAGTAAAGACACGTTGTACCTCTTGGAGCCTCAATGGCTGAGAGACCTGGCGAATTGCCAGCTCCTCTGCACGGTTTTCAGCCGTGCCAGGGTTCATTCACTCCCTCCTTGCCGGCTTCTCAGCGTATGGATTTTCAGGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAGAGCTTGAGTCTTTGCCCTGTGCCTTCACCACCATGACCTCCTTCCTTACCTGGCAGGAAGCCCCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTGTTTGATGGCATCGCGACAGGTGAGTTCGGGGAACACCTGGAGACACTGCTATCGTGTCACAACAGGGTAGCCAGGGAGTCAGAAGGCATGGTTAAGGTGTCTGACATCAGTGGCAAGAAAGGTCCCTGGGGATTACCAGCCCTGAAAAAAACCCTGTCTCCTTGTTTCTCTCCACCTTCTCAACCACCTTGCAGTCTTGGTCATTGAGTTTTATTTATTTATTTTTTCGAGATGGAGTCTCCCTTTGTCACCCAGGTTAGAGTGCAATGGCGTGATCTGTGCTCACTGCAGCCCCCATCTCCGAGGTTCAAGTGATTCTCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCACGCCCAGCTAATTTTTATATTTTTCGTAGAGACGGGGTTTCTCCACGTTGGTCAGGTTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGGCATCCCAAACCGCTGGGATTAGAGACATGAACCACCGTGCCTGGGCAGTCTTGGTCATTTTAAAAGGACATACATCTTAGCTGTTACACTTTATTTTTTATGTGCAGTTATCTTGAACTTGATTTTCATTCCACATGCATAAGTATAATTGGAGATAAACTAGTTAACAACTACTGCTACCTCTGGTTTTGGTTCCCTTCTTTTCCTCCTATATGGAGTTTACACAGCCAATATGTGTGGTGCGTGTACAGCCTTTGCTGGATTGAACGCATGTGATACAGTCATGAGGAACTGTTCATTTTACCATAGCAGGGAGTGGAGGAAATGAGCTGCTGTGTGCTCAGCATCATTTATGCTTCTGTGTCTCTCTGGCCCCCACAGGCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTGCTGGAACCGTGAAGCACGAGGGGAATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAATGTGAGGGCAGTCTGTACCTTGCGGGCCTCATCTCTTCCTGTCTTTTTCCCCAGTCCTCCACACCCTGAAACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGGTCTTTCCTGTTTTGGAGGATC |
Task1_train_27812 | Located on Chromosome 20, this mutation impacts DNMT3B (DNA methyltransferase 3 beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | GGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAGAGCTTGAGTCTTTGCCCTGTGCCTTCACCACCATGACCTCCTTCCTTACCTGGCAGGAAGCCCCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTGTTTGATGGCATCGCGACAGGTGAGTTCGGGGAACACCTGGAGACACTGCTATCGTGTCACAACAGGGTAGCCAGGGAGTCAGAAGGCATGGTTAAGGTGTCTGACATCAGTGGCAAGAAAGGTCCCTGGGGATTACCAGCCCTGAAAAAAACCCTGTCTCCTTGTTTCTCTCCACCTTCTCAACCACCTTGCAGTCTTGGTCATTGAGTTTTATTTATTTATTTTTTCGAGATGGAGTCTCCCTTTGTCACCCAGGTTAGAGTGCAATGGCGTGATCTGTGCTCACTGCAGCCCCCATCTCCGAGGTTCAAGTGATTCTCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCACGCCCAGCTAATTTTTATATTTTTCGTAGAGACGGGGTTTCTCCACGTTGGTCAGGTTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGGCATCCCAAACCGCTGGGATTAGAGACATGAACCACCGTGCCTGGGCAGTCTTGGTCATTTTAAAAGGACATACATCTTAGCTGTTACACTTTATTTTTTATGTGCAGTTATCTTGAACTTGATTTTCATTCCACATGCATAAGTATAATTGGAGATAAACTAGTTAACAACTACTGCTACCTCTGGTTTTGGTTCCCTTCTTTTCCTCCTATATGGAGTTTACACAGCCAATATGTGTGGTGCGTGTACAGCCTTTGCTGGATTGAACGCATGTGATACAGTCATGAGGAACTGTTCATTTTACCATAGCAGGGAGTGGAGGAAATGAGCTGCTGTGTGCTCAGCATCATTTATGCTTCTGTGTCTCTCTGGCCCCCACAGGCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTGTTGGAACCGTGAAGCACGAGGGGAATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAATGTGAGGGCAGTCTGTACCTTGCGGGCCTCATCTCTTCCTGTCTTTTTCCCCAGTCCTCCACACCCTGAAACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGGTCTTTCCTGTTTTGGAGGATCCGTGCCTCATCCATAGTCAGGGAATAGCCCTGTCACCTGCAAAGGTCTGGTTGACACTGAAACTCTAATAATAGGCTCCTAACAGTAACCTTCTTTCTCCCCACAGTGTAATCCAGTGATGATTGATGCCATCAAAGTTTCTGCTGCTCACAGGGCCCGATACTTCTGGGGCAACCTACCCGGGATGAACAGGTAACAAAGGGCTCTTAGTGGGTCAGGTAACAGCCAAGTTAAATATGTGATAACAAGCTCTGACATTCAAGCCTTCCTAGAAAGACCTGGCTCTGCTGAGAAATAGTTATACTTGGATTTCAGACCACCTGTGGTCGTGCGGGTTGATCTCTGTTAAGATGTTCAGCAAGTACCTGGGAATCTCTGTAGGAGTCCCACTCTTACCTGTTGTAAGCTGCTGATGGACCTGATCCTAAAAGTCCCACGTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGAGGATCGCTTGAGCCCAGGAGTTCTAGACTAGCCTGGGCAACAAAGTGAGACCCCGTCTCTACAAAAAAATAAAGAAAAATACAAGTCTCATGAGCTGTGGCCAGACTGTGTACCTCCTTCCTGCCAGGGATCTCTCAAGACTTGAGCTTGTTGATGCTCCTGCCCTTCACCTCTCCTCCCCGTTGATGT | GGGGCCTGATGAAGAAATGGTTGTATGTAGCCTTCTGAGTTAGCAGAGCTGAGAGGGAAGGAAACAGTAGAAATGAATTTTCTAGTTCTTAGAGGGAAGCCCTAGGTCATTCCTGTCTGGGGTGATACCTTTTCATGTGTGCCTCTGTGCATACATATCTGGCTCATGTCCAAGGATAAATTGACCATTCCTTGCCAAATGCAGGCTCGTGTGGTACACACTTGTCTCCCCAATCCCCATCAAGCCTTCAGTGGGCTTTTTGCAGTGGCTACGGCAAGGTTTGAAGCCCTCTGAGCAGGGTCAGCCTGCCCCTCCCTCAGAGCTTGAGTCTTTGCCCTGTGCCTTCACCACCATGACCTCCTTCCTTACCTGGCAGGAAGCCCCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTGTTTGATGGCATCGCGACAGGTGAGTTCGGGGAACACCTGGAGACACTGCTATCGTGTCACAACAGGGTAGCCAGGGAGTCAGAAGGCATGGTTAAGGTGTCTGACATCAGTGGCAAGAAAGGTCCCTGGGGATTACCAGCCCTGAAAAAAACCCTGTCTCCTTGTTTCTCTCCACCTTCTCAACCACCTTGCAGTCTTGGTCATTGAGTTTTATTTATTTATTTTTTCGAGATGGAGTCTCCCTTTGTCACCCAGGTTAGAGTGCAATGGCGTGATCTGTGCTCACTGCAGCCCCCATCTCCGAGGTTCAAGTGATTCTCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTCACCACCACGCCCAGCTAATTTTTATATTTTTCGTAGAGACGGGGTTTCTCCACGTTGGTCAGGTTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTTGGCATCCCAAACCGCTGGGATTAGAGACATGAACCACCGTGCCTGGGCAGTCTTGGTCATTTTAAAAGGACATACATCTTAGCTGTTACACTTTATTTTTTATGTGCAGTTATCTTGAACTTGATTTTCATTCCACATGCATAAGTATAATTGGAGATAAACTAGTTAACAACTACTGCTACCTCTGGTTTTGGTTCCCTTCTTTTCCTCCTATATGGAGTTTACACAGCCAATATGTGTGGTGCGTGTACAGCCTTTGCTGGATTGAACGCATGTGATACAGTCATGAGGAACTGTTCATTTTACCATAGCAGGGAGTGGAGGAAATGAGCTGCTGTGTGCTCAGCATCATTTATGCTTCTGTGTCTCTCTGGCCCCCACAGGCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTGTTGGAACCGTGAAGCACGAGGGGAATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAATGTGAGGGCAGTCTGTACCTTGCGGGCCTCATCTCTTCCTGTCTTTTTCCCCAGTCCTCCACACCCTGAAACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAAGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGGTCTTTCCTGTTTTGGAGGATCCGTGCCTCATCCATAGTCAGGGAATAGCCCTGTCACCTGCAAAGGTCTGGTTGACACTGAAACTCTAATAATAGGCTCCTAACAGTAACCTTCTTTCTCCCCACAGTGTAATCCAGTGATGATTGATGCCATCAAAGTTTCTGCTGCTCACAGGGCCCGATACTTCTGGGGCAACCTACCCGGGATGAACAGGTAACAAAGGGCTCTTAGTGGGTCAGGTAACAGCCAAGTTAAATATGTGATAACAAGCTCTGACATTCAAGCCTTCCTAGAAAGACCTGGCTCTGCTGAGAAATAGTTATACTTGGATTTCAGACCACCTGTGGTCGTGCGGGTTGATCTCTGTTAAGATGTTCAGCAAGTACCTGGGAATCTCTGTAGGAGTCCCACTCTTACCTGTTGTAAGCTGCTGATGGACCTGATCCTAAAAGTCCCACGTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGAGGATCGCTTGAGCCCAGGAGTTCTAGACTAGCCTGGGCAACAAAGTGAGACCCCGTCTCTACAAAAAAATAAAGAAAAATACAAGTCTCATGAGCTGTGGCCAGACTGTGTACCTCCTTCCTGCCAGGGATCTCTCAAGACTTGAGCTTGTTGATGCTCCTGCCCTTCACCTCTCCTCCCCGTTGATGT |
Task1_train_27813 | This gene mutation involves DNMT3B (DNA methyltransferase 3 beta) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | ACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGGTCTTTCCTGTTTTGGAGGATCCGTGCCTCATCCATAGTCAGGGAATAGCCCTGTCACCTGCAAAGGTCTGGTTGACACTGAAACTCTAATAATAGGCTCCTAACAGTAACCTTCTTTCTCCCCACAGTGTAATCCAGTGATGATTGATGCCATCAAAGTTTCTGCTGCTCACAGGGCCCGATACTTCTGGGGCAACCTACCCGGGATGAACAGGTAACAAAGGGCTCTTAGTGGGTCAGGTAACAGCCAAGTTAAATATGTGATAACAAGCTCTGACATTCAAGCCTTCCTAGAAAGACCTGGCTCTGCTGAGAAATAGTTATACTTGGATTTCAGACCACCTGTGGTCGTGCGGGTTGATCTCTGTTAAGATGTTCAGCAAGTACCTGGGAATCTCTGTAGGAGTCCCACTCTTACCTGTTGTAAGCTGCTGATGGACCTGATCCTAAAAGTCCCACGTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGAGGATCGCTTGAGCCCAGGAGTTCTAGACTAGCCTGGGCAACAAAGTGAGACCCCGTCTCTACAAAAAAATAAAGAAAAATACAAGTCTCATGAGCTGTGGCCAGACTGTGTACCTCCTTCCTGCCAGGGATCTCTCAAGACTTGAGCTTGTTGATGCTCCTGCCCTTCACCTCTCCTCCCCGTTGATGTAGTGACAGCCGTCTGGAAATGGAAGTAGATTGTTGTTACCGGTGCCTTTCCTCCTGCCCTGGAGATGAAGCGATCTTGGCCAGGCTCATGGTGACCAACCAGGTGGCAGAGCTGCTATGACAAACAATAGCCCAAAGACTATGTCCCTCAGATTCTCATCACCAGGAGCATTTCATATTTTGTTATCGTATACTAAAAACAGTCTTCTTCAGACACTCTGAAAGCCACAAAGCAGCTTTGCTGAGGATTAATTATTTCTTCTATATGTGGTTTCAAGGAGAAGAACTTGCTAATTAAGATGTAAAATGTTATGGTAATGTGACATCCCAGACTTGCAAATGAGTTGAGCTTAAAACATTCTCCTGTAGAAGGAGGCATGGAAACATAATAACCTTCTGCCACTTAGTGAAGTGTGGACAGAGGTGAGGGTCCTGGGGTAGCTTGGAGGATTTTTGTTGGTCACCTTGCCCGTGTACTTGGCTAAGCAGCCAGTCTTAGGGTGCCATGTCTGTGTCTGGAATTAAATGGGTTAATGCTTTCAACATTTGAACTCCCAGTAGGCCAGGCACTGTTACGCTGTTGCCATTTTCATGGTTAAACACATCATGTCGATAGTGACATGCCGAAGGGGGAGGGAGAGAAGACAATGATTTGGGGTTTATTGCTGGCGGATGGACATTGGAAGGGTTGATGGGGAAGGCTTCTCATTCTAGCGAAGGTCCTAAGTGAAGGGATGGACCCATGCAGTTATTAGAGTACTCCAGGTGGGAAGAGGGTCTGGGATGATGGGAAACATCCCCAGACCAGCTCAGAGCACCCTAGGTGGGGTGGCTGGGAGAGAAGGACCAAGTAACTTGGGCCTTAATGTGGTACCGCTGAAATCACTTTGGCATGGGAAGTTACAGATGAGATGAATTGTGCTTTGGTTCATGGTAGTTTCTGGGTGGATTATAGACAATAACAGGATGGAGGCGGGAATGGGGAGACAAGTGAAGGGACTAGACTGCTCAAAGAAGGAGAGATGACTGATTATGATGTTATGCCCCAGGAGGTGCCATCCATAGAGAACACAGTGTGAGTGGTGGCCCCTGGGGTTTGCAGCACAGCAATCCTGTGACTTAGCAAGGACGGATCAGATTCAACATATGTGGAGGGTAGGACATTTGCTGATGCATTGGATGTGTAGGCTATGAGGTGGAAAGAGCAGTGAGACCTGATGCAGATCTGATGCTGTGACTAAGCTCTGCAGGCTTATAGGATGGGTGTGTCAGGCATCATTTAGGGGACAGACCCAAGTCATCTGGCTTGTTTAGAGCTTAATCTTATAGTCAGCACAAGGCGGGGCTGTGCAGTGTCCTTTTCTTCTGGGCCCTCAGCTCCCCTGGGTCCATGTCGGAGGTAGGAATGGGGATAGAGGTAGCATTTGAAGCCTGGCAGGTGAGGTCAAGGAAATCTATCAGTCTAGGGGAAATATGTGTTGTGATTTCCTCAGCCCCTCTT | ACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGGTCTTTCCTGTTTTGGAGGATCCGTGCCTCATCCATAGTCAGGGAATAGCCCTGTCACCTGCAAAGGTCTGGTTGACACTGAAACTCTAATAATAGGCTCCTAACAGTAACCTTCTTTCTCCCCACAGTGTAATCCAGTGATGATTGATGCCATCAAAGGTTCTGCTGCTCACAGGGCCCGATACTTCTGGGGCAACCTACCCGGGATGAACAGGTAACAAAGGGCTCTTAGTGGGTCAGGTAACAGCCAAGTTAAATATGTGATAACAAGCTCTGACATTCAAGCCTTCCTAGAAAGACCTGGCTCTGCTGAGAAATAGTTATACTTGGATTTCAGACCACCTGTGGTCGTGCGGGTTGATCTCTGTTAAGATGTTCAGCAAGTACCTGGGAATCTCTGTAGGAGTCCCACTCTTACCTGTTGTAAGCTGCTGATGGACCTGATCCTAAAAGTCCCACGTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGAGGATCGCTTGAGCCCAGGAGTTCTAGACTAGCCTGGGCAACAAAGTGAGACCCCGTCTCTACAAAAAAATAAAGAAAAATACAAGTCTCATGAGCTGTGGCCAGACTGTGTACCTCCTTCCTGCCAGGGATCTCTCAAGACTTGAGCTTGTTGATGCTCCTGCCCTTCACCTCTCCTCCCCGTTGATGTAGTGACAGCCGTCTGGAAATGGAAGTAGATTGTTGTTACCGGTGCCTTTCCTCCTGCCCTGGAGATGAAGCGATCTTGGCCAGGCTCATGGTGACCAACCAGGTGGCAGAGCTGCTATGACAAACAATAGCCCAAAGACTATGTCCCTCAGATTCTCATCACCAGGAGCATTTCATATTTTGTTATCGTATACTAAAAACAGTCTTCTTCAGACACTCTGAAAGCCACAAAGCAGCTTTGCTGAGGATTAATTATTTCTTCTATATGTGGTTTCAAGGAGAAGAACTTGCTAATTAAGATGTAAAATGTTATGGTAATGTGACATCCCAGACTTGCAAATGAGTTGAGCTTAAAACATTCTCCTGTAGAAGGAGGCATGGAAACATAATAACCTTCTGCCACTTAGTGAAGTGTGGACAGAGGTGAGGGTCCTGGGGTAGCTTGGAGGATTTTTGTTGGTCACCTTGCCCGTGTACTTGGCTAAGCAGCCAGTCTTAGGGTGCCATGTCTGTGTCTGGAATTAAATGGGTTAATGCTTTCAACATTTGAACTCCCAGTAGGCCAGGCACTGTTACGCTGTTGCCATTTTCATGGTTAAACACATCATGTCGATAGTGACATGCCGAAGGGGGAGGGAGAGAAGACAATGATTTGGGGTTTATTGCTGGCGGATGGACATTGGAAGGGTTGATGGGGAAGGCTTCTCATTCTAGCGAAGGTCCTAAGTGAAGGGATGGACCCATGCAGTTATTAGAGTACTCCAGGTGGGAAGAGGGTCTGGGATGATGGGAAACATCCCCAGACCAGCTCAGAGCACCCTAGGTGGGGTGGCTGGGAGAGAAGGACCAAGTAACTTGGGCCTTAATGTGGTACCGCTGAAATCACTTTGGCATGGGAAGTTACAGATGAGATGAATTGTGCTTTGGTTCATGGTAGTTTCTGGGTGGATTATAGACAATAACAGGATGGAGGCGGGAATGGGGAGACAAGTGAAGGGACTAGACTGCTCAAAGAAGGAGAGATGACTGATTATGATGTTATGCCCCAGGAGGTGCCATCCATAGAGAACACAGTGTGAGTGGTGGCCCCTGGGGTTTGCAGCACAGCAATCCTGTGACTTAGCAAGGACGGATCAGATTCAACATATGTGGAGGGTAGGACATTTGCTGATGCATTGGATGTGTAGGCTATGAGGTGGAAAGAGCAGTGAGACCTGATGCAGATCTGATGCTGTGACTAAGCTCTGCAGGCTTATAGGATGGGTGTGTCAGGCATCATTTAGGGGACAGACCCAAGTCATCTGGCTTGTTTAGAGCTTAATCTTATAGTCAGCACAAGGCGGGGCTGTGCAGTGTCCTTTTCTTCTGGGCCCTCAGCTCCCCTGGGTCCATGTCGGAGGTAGGAATGGGGATAGAGGTAGCATTTGAAGCCTGGCAGGTGAGGTCAAGGAAATCTATCAGTCTAGGGGAAATATGTGTTGTGATTTCCTCAGCCCCTCTT |
Task1_train_27814 | A mutation found in DNMT3B (DNA methyltransferase 3 beta) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGGTCTTTCCTGTTTTGGAGGATCCGTGCCTCATCCATAGTCAGGGAATAGCCCTGTCACCTGCAAAGGTCTGGTTGACACTGAAACTCTAATAATAGGCTCCTAACAGTAACCTTCTTTCTCCCCACAGTGTAATCCAGTGATGATTGATGCCATCAAAGTTTCTGCTGCTCACAGGGCCCGATACTTCTGGGGCAACCTACCCGGGATGAACAGGTAACAAAGGGCTCTTAGTGGGTCAGGTAACAGCCAAGTTAAATATGTGATAACAAGCTCTGACATTCAAGCCTTCCTAGAAAGACCTGGCTCTGCTGAGAAATAGTTATACTTGGATTTCAGACCACCTGTGGTCGTGCGGGTTGATCTCTGTTAAGATGTTCAGCAAGTACCTGGGAATCTCTGTAGGAGTCCCACTCTTACCTGTTGTAAGCTGCTGATGGACCTGATCCTAAAAGTCCCACGTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGAGGATCGCTTGAGCCCAGGAGTTCTAGACTAGCCTGGGCAACAAAGTGAGACCCCGTCTCTACAAAAAAATAAAGAAAAATACAAGTCTCATGAGCTGTGGCCAGACTGTGTACCTCCTTCCTGCCAGGGATCTCTCAAGACTTGAGCTTGTTGATGCTCCTGCCCTTCACCTCTCCTCCCCGTTGATGTAGTGACAGCCGTCTGGAAATGGAAGTAGATTGTTGTTACCGGTGCCTTTCCTCCTGCCCTGGAGATGAAGCGATCTTGGCCAGGCTCATGGTGACCAACCAGGTGGCAGAGCTGCTATGACAAACAATAGCCCAAAGACTATGTCCCTCAGATTCTCATCACCAGGAGCATTTCATATTTTGTTATCGTATACTAAAAACAGTCTTCTTCAGACACTCTGAAAGCCACAAAGCAGCTTTGCTGAGGATTAATTATTTCTTCTATATGTGGTTTCAAGGAGAAGAACTTGCTAATTAAGATGTAAAATGTTATGGTAATGTGACATCCCAGACTTGCAAATGAGTTGAGCTTAAAACATTCTCCTGTAGAAGGAGGCATGGAAACATAATAACCTTCTGCCACTTAGTGAAGTGTGGACAGAGGTGAGGGTCCTGGGGTAGCTTGGAGGATTTTTGTTGGTCACCTTGCCCGTGTACTTGGCTAAGCAGCCAGTCTTAGGGTGCCATGTCTGTGTCTGGAATTAAATGGGTTAATGCTTTCAACATTTGAACTCCCAGTAGGCCAGGCACTGTTACGCTGTTGCCATTTTCATGGTTAAACACATCATGTCGATAGTGACATGCCGAAGGGGGAGGGAGAGAAGACAATGATTTGGGGTTTATTGCTGGCGGATGGACATTGGAAGGGTTGATGGGGAAGGCTTCTCATTCTAGCGAAGGTCCTAAGTGAAGGGATGGACCCATGCAGTTATTAGAGTACTCCAGGTGGGAAGAGGGTCTGGGATGATGGGAAACATCCCCAGACCAGCTCAGAGCACCCTAGGTGGGGTGGCTGGGAGAGAAGGACCAAGTAACTTGGGCCTTAATGTGGTACCGCTGAAATCACTTTGGCATGGGAAGTTACAGATGAGATGAATTGTGCTTTGGTTCATGGTAGTTTCTGGGTGGATTATAGACAATAACAGGATGGAGGCGGGAATGGGGAGACAAGTGAAGGGACTAGACTGCTCAAAGAAGGAGAGATGACTGATTATGATGTTATGCCCCAGGAGGTGCCATCCATAGAGAACACAGTGTGAGTGGTGGCCCCTGGGGTTTGCAGCACAGCAATCCTGTGACTTAGCAAGGACGGATCAGATTCAACATATGTGGAGGGTAGGACATTTGCTGATGCATTGGATGTGTAGGCTATGAGGTGGAAAGAGCAGTGAGACCTGATGCAGATCTGATGCTGTGACTAAGCTCTGCAGGCTTATAGGATGGGTGTGTCAGGCATCATTTAGGGGACAGACCCAAGTCATCTGGCTTGTTTAGAGCTTAATCTTATAGTCAGCACAAGGCGGGGCTGTGCAGTGTCCTTTTCTTCTGGGCCCTCAGCTCCCCTGGGTCCATGTCGGAGGTAGGAATGGGGATAGAGGTAGCATTTGAAGCCTGGCAGGTGAGGTCAAGGAAATCTATCAGTCTAGGGGAAATATGTGTTGTGATTTCCTCAGCCCCTCTT | ACCCACATGTAGGCCCCATCCCTGAGACCCCAGAAAAAAGGATTGAAATCCTGTGGGAATCTTAAGCATTAGGTTAGGGTCAGAAGTGGAGTTGGTGACCAAGCAAGATTCTATTTTTTTCTGGAGACAGTCTCCCTCTGGAGTGCAGTGGCATGATCTCAGCTCACTGTAACCTCTGCCTCCCGGGTTTAAGCGATTCTCTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACCTGCCACCATGCTGGGCTAATTTTTATATTTCTAGTAGAGTTGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCCCGCCGTCAGCCTTCCTGGGATTACAGGTGTGAGCCACCTCGTCCAGCCCCACGCAAGATTCTAGAAGTGGGTCCAGCTCTCTTTCCCTCTGTCCACACCCTCATCCTGACTCTGTCTCTCTCTTTCAGATTGAAGAATGGGGCCCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGCAGTCCCTGGAGAGCCTATGTCACCTGACCACTGGCCCAGGTGCAGCAGCCTGAGAAGGAGCCACTTGCTTCTGGCCAAGTTACTGGCAGCATCAGGGGCCTGTTGGTGCTGCCTACGCTCCATAGTAAATCCTCAGCCCACAAGGGAAATACCCTAGTAAATAGTGCCCTGCTGCTGCCTGTGTCCCTGCTGTCATTCAGGTGGACATAGACTGGTAGGCATCACCCTGAACTGTCAGGAGGCCATTGGGAACCTGCTGGTCTCAGGGAATAAGGTGGGTTGGGCTGGAGGTTTCAAATGAACCCTGCGCTGTCATCTTTTCTGAGCACAGAGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAATTACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTAGCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAGGTGAGGGAATCTGGGGACCTGATTGTCACAGACAGCCAGGGCAGGGAAAGCGCTGCTGGCAGTGATGATTGGTGGGTGTTGCCAACATTGGGAATGACTTTCCCGTTCTTGGTCTGGCTAGATCCAATAGTGAGGGATTCAGTGGGTTCTCTTAGTACATGGAAAATATTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGAAGTACAGTGGCATTATTACAGCTCACTGGAGCCTCAAACAGCTGGGCTCAGGCAATCCTCCTACCTCAGCCTCCCAAATGGCTGGGACTACAGGGGCACACCACCGTGCCCAGCCAATTTTTGTATTTTTGGTAGAGACAGGGTCTTGGTATGTTGCACACCCTAGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCCCAACGTGTTGGGATTGGAGATAGAGATGTGAGCCACCATCCCCTGCCAGTACAAGGAAAATAATTGATCTCTAATCTCAGCCCAACTCTTTGAAGTCAGAAATGATGAAACAAACCATCATCTGCTGTTAAGGACTCATGAGATTTGACTCAATTTTTTACTCTAGAGAGTTTTCTCATTTTTGATATGAAAACTGCTTTAGACCAGGCACAGTGGCTCATGTCTGCAGTCCTAGCATTTTGGGAGGCTGAGGTTGGAGGATCACTTGAGCCCACGGTGTATCATATTTTGTAATAATCTGGCGTATCCCAGGGGATACCGTCTCAGAATCTGCAGGTTTGACCTTATCTCTTTAGCTACCATTAGCATAGTATGAGGGCATTTACCATGTCCTCTAGCCAGCCTCCTGATGGCAGTAGGTCTTTCCTGTTTTGGAGGATCCGTGCCTCATCCATAGTCAGGGAATAGCCCTGTCACCTGCAAAGGTCTGGTTGACACTGAAACTCTAATAATAGGCTCCTAACAGTAACCTTCTTTCTCCCCACAGTGTAATCCAGTGATGATTGATGCCATCAAAGGTTCTGCTGCTCACAGGGCCCGATACTTCTGGGGCAACCTACCCGGGATGAACAGGTAACAAAGGGCTCTTAGTGGGTCAGGTAACAGCCAAGTTAAATATGTGATAACAAGCTCTGACATTCAAGCCTTCCTAGAAAGACCTGGCTCTGCTGAGAAATAGTTATACTTGGATTTCAGACCACCTGTGGTCGTGCGGGTTGATCTCTGTTAAGATGTTCAGCAAGTACCTGGGAATCTCTGTAGGAGTCCCACTCTTACCTGTTGTAAGCTGCTGATGGACCTGATCCTAAAAGTCCCACGTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGAGGATCGCTTGAGCCCAGGAGTTCTAGACTAGCCTGGGCAACAAAGTGAGACCCCGTCTCTACAAAAAAATAAAGAAAAATACAAGTCTCATGAGCTGTGGCCAGACTGTGTACCTCCTTCCTGCCAGGGATCTCTCAAGACTTGAGCTTGTTGATGCTCCTGCCCTTCACCTCTCCTCCCCGTTGATGTAGTGACAGCCGTCTGGAAATGGAAGTAGATTGTTGTTACCGGTGCCTTTCCTCCTGCCCTGGAGATGAAGCGATCTTGGCCAGGCTCATGGTGACCAACCAGGTGGCAGAGCTGCTATGACAAACAATAGCCCAAAGACTATGTCCCTCAGATTCTCATCACCAGGAGCATTTCATATTTTGTTATCGTATACTAAAAACAGTCTTCTTCAGACACTCTGAAAGCCACAAAGCAGCTTTGCTGAGGATTAATTATTTCTTCTATATGTGGTTTCAAGGAGAAGAACTTGCTAATTAAGATGTAAAATGTTATGGTAATGTGACATCCCAGACTTGCAAATGAGTTGAGCTTAAAACATTCTCCTGTAGAAGGAGGCATGGAAACATAATAACCTTCTGCCACTTAGTGAAGTGTGGACAGAGGTGAGGGTCCTGGGGTAGCTTGGAGGATTTTTGTTGGTCACCTTGCCCGTGTACTTGGCTAAGCAGCCAGTCTTAGGGTGCCATGTCTGTGTCTGGAATTAAATGGGTTAATGCTTTCAACATTTGAACTCCCAGTAGGCCAGGCACTGTTACGCTGTTGCCATTTTCATGGTTAAACACATCATGTCGATAGTGACATGCCGAAGGGGGAGGGAGAGAAGACAATGATTTGGGGTTTATTGCTGGCGGATGGACATTGGAAGGGTTGATGGGGAAGGCTTCTCATTCTAGCGAAGGTCCTAAGTGAAGGGATGGACCCATGCAGTTATTAGAGTACTCCAGGTGGGAAGAGGGTCTGGGATGATGGGAAACATCCCCAGACCAGCTCAGAGCACCCTAGGTGGGGTGGCTGGGAGAGAAGGACCAAGTAACTTGGGCCTTAATGTGGTACCGCTGAAATCACTTTGGCATGGGAAGTTACAGATGAGATGAATTGTGCTTTGGTTCATGGTAGTTTCTGGGTGGATTATAGACAATAACAGGATGGAGGCGGGAATGGGGAGACAAGTGAAGGGACTAGACTGCTCAAAGAAGGAGAGATGACTGATTATGATGTTATGCCCCAGGAGGTGCCATCCATAGAGAACACAGTGTGAGTGGTGGCCCCTGGGGTTTGCAGCACAGCAATCCTGTGACTTAGCAAGGACGGATCAGATTCAACATATGTGGAGGGTAGGACATTTGCTGATGCATTGGATGTGTAGGCTATGAGGTGGAAAGAGCAGTGAGACCTGATGCAGATCTGATGCTGTGACTAAGCTCTGCAGGCTTATAGGATGGGTGTGTCAGGCATCATTTAGGGGACAGACCCAAGTCATCTGGCTTGTTTAGAGCTTAATCTTATAGTCAGCACAAGGCGGGGCTGTGCAGTGTCCTTTTCTTCTGGGCCCTCAGCTCCCCTGGGTCCATGTCGGAGGTAGGAATGGGGATAGAGGTAGCATTTGAAGCCTGGCAGGTGAGGTCAAGGAAATCTATCAGTCTAGGGGAAATATGTGTTGTGATTTCCTCAGCCCCTCTT |
Task1_train_27815 | A variant was discovered on Chromosome 20, affecting DNMT3B (DNA methyltransferase 3 beta). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | CTTGCAAATGAGTTGAGCTTAAAACATTCTCCTGTAGAAGGAGGCATGGAAACATAATAACCTTCTGCCACTTAGTGAAGTGTGGACAGAGGTGAGGGTCCTGGGGTAGCTTGGAGGATTTTTGTTGGTCACCTTGCCCGTGTACTTGGCTAAGCAGCCAGTCTTAGGGTGCCATGTCTGTGTCTGGAATTAAATGGGTTAATGCTTTCAACATTTGAACTCCCAGTAGGCCAGGCACTGTTACGCTGTTGCCATTTTCATGGTTAAACACATCATGTCGATAGTGACATGCCGAAGGGGGAGGGAGAGAAGACAATGATTTGGGGTTTATTGCTGGCGGATGGACATTGGAAGGGTTGATGGGGAAGGCTTCTCATTCTAGCGAAGGTCCTAAGTGAAGGGATGGACCCATGCAGTTATTAGAGTACTCCAGGTGGGAAGAGGGTCTGGGATGATGGGAAACATCCCCAGACCAGCTCAGAGCACCCTAGGTGGGGTGGCTGGGAGAGAAGGACCAAGTAACTTGGGCCTTAATGTGGTACCGCTGAAATCACTTTGGCATGGGAAGTTACAGATGAGATGAATTGTGCTTTGGTTCATGGTAGTTTCTGGGTGGATTATAGACAATAACAGGATGGAGGCGGGAATGGGGAGACAAGTGAAGGGACTAGACTGCTCAAAGAAGGAGAGATGACTGATTATGATGTTATGCCCCAGGAGGTGCCATCCATAGAGAACACAGTGTGAGTGGTGGCCCCTGGGGTTTGCAGCACAGCAATCCTGTGACTTAGCAAGGACGGATCAGATTCAACATATGTGGAGGGTAGGACATTTGCTGATGCATTGGATGTGTAGGCTATGAGGTGGAAAGAGCAGTGAGACCTGATGCAGATCTGATGCTGTGACTAAGCTCTGCAGGCTTATAGGATGGGTGTGTCAGGCATCATTTAGGGGACAGACCCAAGTCATCTGGCTTGTTTAGAGCTTAATCTTATAGTCAGCACAAGGCGGGGCTGTGCAGTGTCCTTTTCTTCTGGGCCCTCAGCTCCCCTGGGTCCATGTCGGAGGTAGGAATGGGGATAGAGGTAGCATTTGAAGCCTGGCAGGTGAGGTCAAGGAAATCTATCAGTCTAGGGGAAATATGTGTTGTGATTTCCTCAGCCCCTCTTGTAGGCACGGTTCCCGTTCTCATGTCTGAGTTGTTTGGCCTTGACGTTCCTAACACAGGTTACTATGGCCGTCCCTGCGTCCAGTCCTCTTGCACCAGTTTCTGTTCTGGAGCTGCTCAACTACTTTCAGTTCTAGCCCTTGCCCTTCTTAGTCATCTGTTTGCCTCTCTCTGCATTTGCAAAATAATTTTCAAGGGTGAAAGTTAAAAGGGTGCTTAGTCTTTTTTTTTTTTTTTTTTTTTGGAACCTTAAGAGACAGGGTCTGTCTCCCAGGCTGGAGTGCAGTGTTGTAATCATAACTCACTGTAGCCTCCAACTCCTAGGCTTAAGCGATCCTCCTGCTTTGAACTCCCAAATTGCTGGGATTAAGGGTAGGAACCACTGCAGGCGGTTGCCATTCACTTTTAAAGCCTCCTGAGGCTGTATCCCCAGCAGTGAGCCACCAAACCGTGGGTGTGATATGATAATTGTATCAGGTAGACCCACAAAAATCTATTCCAAGCTCCTCACTTTAAAATAGACAGGAAGCCCAAAGGGGTAGTGTGACTCGCTCAAGCTCAGTCAGTGAGCAGTGTGGAGCTGGGACCTGAGGTTTCTCCTGCCCTACCCCATGCAGTGTTCCTGCTCAATGGGAACCTGACTTTGAAGTCCAGGCAGGGGAGCATTACCTCCTGGATGCTGGGCTGTCCCCTCTAGCCCATCCTTGGCTTTGGCACACAGGCTTGTGCTCATGCCAGGATCATTTTCATCATTTATTTGTAGCCAAGTTCACTGCCAGGGCACATCTCTGCAACATAGACCCTCACTCCCACCTTGTGCCTAGCAGAGGACCCTCTATAGCTAGTAAGAAGTAATGGGTTTTGGCTGTTCCCAGGCCCGTGATAGCATCAAAGAATGATAAACTCGAGCTGCAGGACTGCTTGGAATACAATAGGATAGCCAAGGTAAGACGAGCTGTGGCCCTCTGGAAAAATGCACTTGGTGACCTCCAAGTGGGGACTTGGGAGATGACCTTGGTGTTTGATTGGTTCCTACTCCTCCCCCCACGTGACTTCCTGGTGTTGGGCTTCCCTCTCCCACATGATTGTTCTGTCCCATCCTCAAATACAGAGACTAGGAGACATTCGTGATAAGTAATCACGACGAGAAAAGGCAACTAGTCTTTTTAATTTTAGTACTGGATACATAAAGACAAAGAGTTTCAGCTGGCCCTCTCAGGGAGAAAGGAATCATTAATCCTTTTGCCAAAAAATTAATTTGCTGTCAAGTCATAGAATATGAAGACCTCCATAAACCTAAATCTCAATGTTTGCATCAAGCTAAGATCCATTTTCTAAACTCCAATTGAGCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTTTCCCAGGTACTTTTGAGCCTTGACTCCCCAGGTCCCTTCATTCTGTGCTCACTCCATGATGTCATTTTGTTCTCCAGTTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCGATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTGTGGTGCACTGAGCTCGAAAGGTGAGCAAGGCTGCACTTGGAGAGGGAAACTGTGTAGATCAAAACACAAATGGGCAGACATGGGCAGGTGCTTACCTTCATTCTTGATGGCCTCACTGCCCTTTGGTGTTACTGGGGCGAGGAGTAATAATACCTTTTCATAGTTCGCCCTTATTTCCTGACAAAAATGGCGGAGGGGGTGTGGTGGTGGTGAGGAATCTGAGACATGAGGTCATTAGGCCACACCATCTGTCTGTTGGCTGCACTGCCGTGACATCTGCCTGTCCCAACATGCTGGGACACTACGATGTGTGAGAAGCCAGTGAAAGAAAACCCCACAGACATGCCATTCTTGAAGACTTCAGTTTGCTCATTCTATAAATGATTCCTTCTTAGCCACAGTTTATCCTCTCCTTCCCTTTCTTTGGGCTAAGTTTGTCTGTTTTGATGCAAATAACCATCTCTTGGATTTCAGTTCTGTTCTGTTCTGTTTTCTTTCACTCCTCTATTGTTTGTTCATTTTGCTTATACTATTTTTTAAAAATCATTATTTGCTATAGTGATTATGGCTTTGAACATTCCTCTTTACATGTATTCTGTATTCTGAAGGCTTTGATATAGAGTATTTTCATTCCAGATATTTCACTTCTATAACTCATTTAATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACTTCTGATTAGTATTTATGCTGTAGATTATTCTGTATGGACCTAAACCTAAAATGGTTGGTGCAGATGGCTGACATTGTGTAGACGCTAAGACCAAGCAAGACACAGGCCTGAGGTATCACATCTTTGGCATGTTTCTGAATAACCCACGCAGCCATTGGCCTGTTGGGATGACTTTTAGTATTGGATTGTATACCTGAGTAACACTGAGGCTCAGCCTCTGTAGCCTCTTTCCAGGCCTGGTAGAATCCTATAGAGGAAGCTTTTGGTATATTTGATGCCATCTGCCTGGAGTCATCTAGCATGGTCCTTCATCCGGCAGCTGGGTTTGAAGAGGGAAGGAAAACTCTGGTTGCCTGAGCCTGTGATGACTGAAAAT | CTTGCAAATGAGTTGAGCTTAAAACATTCTCCTGTAGAAGGAGGCATGGAAACATAATAACCTTCTGCCACTTAGTGAAGTGTGGACAGAGGTGAGGGTCCTGGGGTAGCTTGGAGGATTTTTGTTGGTCACCTTGCCCGTGTACTTGGCTAAGCAGCCAGTCTTAGGGTGCCATGTCTGTGTCTGGAATTAAATGGGTTAATGCTTTCAACATTTGAACTCCCAGTAGGCCAGGCACTGTTACGCTGTTGCCATTTTCATGGTTAAACACATCATGTCGATAGTGACATGCCGAAGGGGGAGGGAGAGAAGACAATGATTTGGGGTTTATTGCTGGCGGATGGACATTGGAAGGGTTGATGGGGAAGGCTTCTCATTCTAGCGAAGGTCCTAAGTGAAGGGATGGACCCATGCAGTTATTAGAGTACTCCAGGTGGGAAGAGGGTCTGGGATGATGGGAAACATCCCCAGACCAGCTCAGAGCACCCTAGGTGGGGTGGCTGGGAGAGAAGGACCAAGTAACTTGGGCCTTAATGTGGTACCGCTGAAATCACTTTGGCATGGGAAGTTACAGATGAGATGAATTGTGCTTTGGTTCATGGTAGTTTCTGGGTGGATTATAGACAATAACAGGATGGAGGCGGGAATGGGGAGACAAGTGAAGGGACTAGACTGCTCAAAGAAGGAGAGATGACTGATTATGATGTTATGCCCCAGGAGGTGCCATCCATAGAGAACACAGTGTGAGTGGTGGCCCCTGGGGTTTGCAGCACAGCAATCCTGTGACTTAGCAAGGACGGATCAGATTCAACATATGTGGAGGGTAGGACATTTGCTGATGCATTGGATGTGTAGGCTATGAGGTGGAAAGAGCAGTGAGACCTGATGCAGATCTGATGCTGTGACTAAGCTCTGCAGGCTTATAGGATGGGTGTGTCAGGCATCATTTAGGGGACAGACCCAAGTCATCTGGCTTGTTTAGAGCTTAATCTTATAGTCAGCACAAGGCGGGGCTGTGCAGTGTCCTTTTCTTCTGGGCCCTCAGCTCCCCTGGGTCCATGTCGGAGGTAGGAATGGGGATAGAGGTAGCATTTGAAGCCTGGCAGGTGAGGTCAAGGAAATCTATCAGTCTAGGGGAAATATGTGTTGTGATTTCCTCAGCCCCTCTTGTAGGCACGGTTCCCGTTCTCATGTCTGAGTTGTTTGGCCTTGACGTTCCTAACACAGGTTACTATGGCCGTCCCTGCGTCCAGTCCTCTTGCACCAGTTTCTGTTCTGGAGCTGCTCAACTACTTTCAGTTCTAGCCCTTGCCCTTCTTAGTCATCTGTTTGCCTCTCTCTGCATTTGCAAAATAATTTTCAAGGGTGAAAGTTAAAAGGGTGCTTAGTCTTTTTTTTTTTTTTTTTTTTTGGAACCTTAAGAGACAGGGTCTGTCTCCCAGGCTGGAGTGCAGTGTTGTAATCATAACTCACTGTAGCCTCCAACTCCTAGGCTTAAGCGATCCTCCTGCTTTGAACTCCCAAATTGCTGGGATTAAGGGTAGGAACCACTGCAGGCGGTTGCCATTCACTTTTAAAGCCTCCTGAGGCTGTATCCCCAGCAGTGAGCCACCAAACCGTGGGTGTGATATGATAATTGTATCAGGTAGACCCACAAAAATCTATTCCAAGCTCCTCACTTTAAAATAGACAGGAAGCCCAAAGGGGTAGTGTGACTCGCTCAAGCTCAGTCAGTGAGCAGTGTGGAGCTGGGACCTGAGGTTTCTCCTGCCCTACCCCATGCAGTGTTCCTGCTCAATGGGAACCTGACTTTGAAGTCCAGGCAGGGGAGCATTACCTCCTGGATGCTGGGCTGTCCCCTCTAGCCCATCCTTGGCTTTGGCACACAGGCTTGTGCTCATGCCAGGATCATTTTCATCATTTATTTGTAGCCAAGTTCACTGCCAGGGCACATCTCTGCAACATAGACCCTCACTCCCACCTTGTGCCTAGCAGAGGACCCTCTATAGCTAGTAAGAAGTAATGGGTTTTGGCTGTTCCCAGGCCCGGGATAGCATCAAAGAATGATAAACTCGAGCTGCAGGACTGCTTGGAATACAATAGGATAGCCAAGGTAAGACGAGCTGTGGCCCTCTGGAAAAATGCACTTGGTGACCTCCAAGTGGGGACTTGGGAGATGACCTTGGTGTTTGATTGGTTCCTACTCCTCCCCCCACGTGACTTCCTGGTGTTGGGCTTCCCTCTCCCACATGATTGTTCTGTCCCATCCTCAAATACAGAGACTAGGAGACATTCGTGATAAGTAATCACGACGAGAAAAGGCAACTAGTCTTTTTAATTTTAGTACTGGATACATAAAGACAAAGAGTTTCAGCTGGCCCTCTCAGGGAGAAAGGAATCATTAATCCTTTTGCCAAAAAATTAATTTGCTGTCAAGTCATAGAATATGAAGACCTCCATAAACCTAAATCTCAATGTTTGCATCAAGCTAAGATCCATTTTCTAAACTCCAATTGAGCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTTTCCCAGGTACTTTTGAGCCTTGACTCCCCAGGTCCCTTCATTCTGTGCTCACTCCATGATGTCATTTTGTTCTCCAGTTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCGATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTGTGGTGCACTGAGCTCGAAAGGTGAGCAAGGCTGCACTTGGAGAGGGAAACTGTGTAGATCAAAACACAAATGGGCAGACATGGGCAGGTGCTTACCTTCATTCTTGATGGCCTCACTGCCCTTTGGTGTTACTGGGGCGAGGAGTAATAATACCTTTTCATAGTTCGCCCTTATTTCCTGACAAAAATGGCGGAGGGGGTGTGGTGGTGGTGAGGAATCTGAGACATGAGGTCATTAGGCCACACCATCTGTCTGTTGGCTGCACTGCCGTGACATCTGCCTGTCCCAACATGCTGGGACACTACGATGTGTGAGAAGCCAGTGAAAGAAAACCCCACAGACATGCCATTCTTGAAGACTTCAGTTTGCTCATTCTATAAATGATTCCTTCTTAGCCACAGTTTATCCTCTCCTTCCCTTTCTTTGGGCTAAGTTTGTCTGTTTTGATGCAAATAACCATCTCTTGGATTTCAGTTCTGTTCTGTTCTGTTTTCTTTCACTCCTCTATTGTTTGTTCATTTTGCTTATACTATTTTTTAAAAATCATTATTTGCTATAGTGATTATGGCTTTGAACATTCCTCTTTACATGTATTCTGTATTCTGAAGGCTTTGATATAGAGTATTTTCATTCCAGATATTTCACTTCTATAACTCATTTAATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACTTCTGATTAGTATTTATGCTGTAGATTATTCTGTATGGACCTAAACCTAAAATGGTTGGTGCAGATGGCTGACATTGTGTAGACGCTAAGACCAAGCAAGACACAGGCCTGAGGTATCACATCTTTGGCATGTTTCTGAATAACCCACGCAGCCATTGGCCTGTTGGGATGACTTTTAGTATTGGATTGTATACCTGAGTAACACTGAGGCTCAGCCTCTGTAGCCTCTTTCCAGGCCTGGTAGAATCCTATAGAGGAAGCTTTTGGTATATTTGATGCCATCTGCCTGGAGTCATCTAGCATGGTCCTTCATCCGGCAGCTGGGTTTGAAGAGGGAAGGAAAACTCTGGTTGCCTGAGCCTGTGATGACTGAAAAT |
Task1_train_27816 | This variant lies on Chromosome 20 and affects the gene DNMT3B (DNA methyltransferase 3 beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | GAAGACCTCCATAAACCTAAATCTCAATGTTTGCATCAAGCTAAGATCCATTTTCTAAACTCCAATTGAGCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTTTCCCAGGTACTTTTGAGCCTTGACTCCCCAGGTCCCTTCATTCTGTGCTCACTCCATGATGTCATTTTGTTCTCCAGTTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCGATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTGTGGTGCACTGAGCTCGAAAGGTGAGCAAGGCTGCACTTGGAGAGGGAAACTGTGTAGATCAAAACACAAATGGGCAGACATGGGCAGGTGCTTACCTTCATTCTTGATGGCCTCACTGCCCTTTGGTGTTACTGGGGCGAGGAGTAATAATACCTTTTCATAGTTCGCCCTTATTTCCTGACAAAAATGGCGGAGGGGGTGTGGTGGTGGTGAGGAATCTGAGACATGAGGTCATTAGGCCACACCATCTGTCTGTTGGCTGCACTGCCGTGACATCTGCCTGTCCCAACATGCTGGGACACTACGATGTGTGAGAAGCCAGTGAAAGAAAACCCCACAGACATGCCATTCTTGAAGACTTCAGTTTGCTCATTCTATAAATGATTCCTTCTTAGCCACAGTTTATCCTCTCCTTCCCTTTCTTTGGGCTAAGTTTGTCTGTTTTGATGCAAATAACCATCTCTTGGATTTCAGTTCTGTTCTGTTCTGTTTTCTTTCACTCCTCTATTGTTTGTTCATTTTGCTTATACTATTTTTTAAAAATCATTATTTGCTATAGTGATTATGGCTTTGAACATTCCTCTTTACATGTATTCTGTATTCTGAAGGCTTTGATATAGAGTATTTTCATTCCAGATATTTCACTTCTATAACTCATTTAATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACTTCTGATTAGTATTTATGCTGTAGATTATTCTGTATGGACCTAAACCTAAAATGGTTGGTGCAGATGGCTGACATTGTGTAGACGCTAAGACCAAGCAAGACACAGGCCTGAGGTATCACATCTTTGGCATGTTTCTGAATAACCCACGCAGCCATTGGCCTGTTGGGATGACTTTTAGTATTGGATTGTATACCTGAGTAACACTGAGGCTCAGCCTCTGTAGCCTCTTTCCAGGCCTGGTAGAATCCTATAGAGGAAGCTTTTGGTATATTTGATGCCATCTGCCTGGAGTCATCTAGCATGGTCCTTCATCCGGCAGCTGGGTTTGAAGAGGGAAGGAAAACTCTGGTTGCCTGAGCCTGTGATGACTGAAAATCTAGGCTGTTTTTGAGTGACCTTGTTCCTTATTAAGGAAATTGCTTAACTTCTCCCATCATAGTGTTTTGAAAATGGATACATTGCTGGCTGGCTGATTTAGTATGCATGCATTTATTCTAGGAAGGTCCTCTGAGCACCAACTCTATGCCAAGAGTATGGTGCTAGGCCTGCACAAAACGGGGGACTTTCATTTGTGAGCAATTTGTAAGCAAGTGTTCTGAATTAAGGGCTCTGAATTTAGGTCCTTGGGGACCTTACTGATGGGACTGAGGGATGGCGAGGGCAGAAAGAGTGGGACCTGGCTGGTTGAGGCTGTCAACATCCTGGAGGCACTTCTGACTTGCTGTCTTTTCACTCCGGTACCCCCAGGATCTTTGGCTTTCCTGTGCACTACACAGACGTGTCCAACATGGGCCGTGGTGCCCGCCAGAAGCTGCTGGGAAGGTCCTGGAGCGTGCCTGTCATCCGACACCTCTTCGCCCCTCTGAAGGACTACTTTGCATGTGAATAGTTCCAGCCAGGCCCCAAGCCCACTGGGGTGTGTGGCAGAGCCAGGACCCAGGAGGTGTGATTCCTGAAGGCATCCCCAGGCCCTGCTCTTCCTCAGCTGTGTGGGTCATACCGTGTACCTCAGTTCCCTCTTGCTCAGTGGGGGCAGAGCCACCTGACTCTTGCAGGGGTAGCCTGAGGTGCCGCCTCCTTGTGCACAAATCAGACCTGGCTGCTTGGAGCAGCCTAACACGGTGCTCATTTTTTCTTCTCCTAAAACTTTAAAACTTGAAGTAGGTAGCAACGTGGCTTTTTTTTTTTCCCTTCCTGGGTCTACCACTCAGAGAAACAATGGCTAAGATACCAAAACCACAGTGCCGACAGCTCTCCAATACTCAGGTTAATGCTGAAAAATCATCCAAGACAGTTATTGCAAGAGTTTAATTTTTGAAAACTGGCTACTGCTCTGTGTTTACAGACGTGTGCAGTTGTAGGCATGTAGCTACAGGACATTTTTAAGGGCCCAGGATCGTTTTTTCCCAGGGCAAGCAGAAGAGAAAATGTTGTATATGTCTTTTACCCGGCACATTCCCCTTGCCTAAATACAAGGGCTGGAGTCTGCACGGGACCTATTAGAGTATTTTCCACAATGATGATGATTTCAGCAGGGATGACGTCATCATCACATTCAGGGCTATTTTTTCCCCCACAAACCCAAGGGCAGGGGCCACTCTTAGCTAAATCCCTCCCCGTGACTGCAATAGAACCCTCTGGGGAGCTCAGGAAGGGGTGTGCTGAGTTCTATAATATAAGCTGCCATATATTTTGTAGACAAGTATGGCTCCTCCATATCTCCCTCTTCCCTAGGAGAGGAGTGTGAAGCAAGGAGCTTAGATAAGACACCCCCTCAAACCCATTCCCTCTCCAGGAGACCTACCCTCCACAGGCACAGGTCCCCAGATGAGAAGTCTGCTACCCTCATTTCTCATCTTTTTACTAAACTCAGAGGCAGTGACAGCAGTCAGGGACAGACATACATTTCTCATACCTTCCCCACATCTGAGAGATGACAGGGAAAACTGCAAAGCTCGGTGCTCCCTTTGGAGATTTTTTAATCCTTTTTTATTCCATAAGAAGTCGTTTTTAGGGAGAACGGGAATTCAGACAAGCTGCATTTCAGAAATGCTGTCATAATGGTTTTTAACACCTTTTACTCTTCTTACTGGTGCTATTTTGTAGAATAAGGAACAACGTTGACAAGTTTTGTGGGGCTTTTTATACACTTTTTAAAATCTCAAACTTCTATTTTTATGTTTAACGTTTTCATTAAAATTTTTTTTGTAACTGGAGCCACGACGTAACAAATATGGGGAAAAAACTGTGCCTTGTTTCAACAGTTTTTGCTAATTTTTAGGCTGAAAGATGACGGATGCCTAGAGTTTACCTTATGTTTAATTAAAATCAGTATTTGTCTATAACTGTCTGATGTCCCTTTTCTTCTGCAGGTCAGATGGATGGGACATGGGGGAGGGCCTGGCTAACATGTCAGGGTGGGAGTTTGGAAGTAGGTGATTCATTCATTCATGTATTCAAACGCAATGTGACCCCAAGCTGACTGGAGCTTACTTACAGTGTAATACACTGGTTCTGCACCATTGGCTCACGCCTGTAATCCTAGCCAGGGTGGGCGGATCTTTTCAGTCCAGGAGTTCGAAACCAGCCTTGCCAACATGGCAAAACCCCGTCCGTACAAAAAAAAAACCAATAATCCAGGCTGGGCACGGTGGCTCATGCCTGTAATCTAAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATTCTGGCTAACCCTGGAAACCCTGTCTCTACTAAAAATACAAATTAGCCAGGTGTGGTAGTCCCAGCTACTCTCAGGAGGCTGAGGCAGAAGAATGTCGT | GAAGACCTCCATAAACCTAAATCTCAATGTTTGCATCAAGCTAAGATCCATTTTCTAAACTCCAATTGAGCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTTTCCCAGGTACTTTTGAGCCTTGACTCCCCAGGTCCCTTCATTCTGTGCTCACTCCATGATGTCATTTTGTTCTCCAGTTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCGATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTGTGGTGCACTGAGCTCGAAAGGTGAGCAAGGCTGCACTTGGAGAGGGAAACTGTGTAGATCAAAACACAAATGGGCAGACATGGGCAGGTGCTTACCTTCATTCTTGATGGCCTCACTGCCCTTTGGTGTTACTGGGGCGAGGAGTAATAATACCTTTTCATAGTTCGCCCTTATTTCCTGACAAAAATGGCGGAGGGGGTGTGGTGGTGGTGAGGAATCTGAGACATGAGGTCATTAGGCCACACCATCTGTCTGTTGGCTGCACTGCCGTGACATCTGCCTGTCCCAACATGCTGGGACACTACGATGTGTGAGAAGCCAGTGAAAGAAAACCCCACAGACATGCCATTCTTGAAGACTTCAGTTTGCTCATTCTATAAATGATTCCTTCTTAGCCACAGTTTATCCTCTCCTTCCCTTTCTTTGGGCTAAGTTTGTCTGTTTTGATGCAAATAACCATCTCTTGGATTTCAGTTCTGTTCTGTTCTGTTTTCTTTCACTCCTCTATTGTTTGTTCATTTTGCTTATACTATTTTTTAAAAATCATTATTTGCTATAGTGATTATGGCTTTGAACATTCCTCTTTACATGTATTCTGTATTCTGAAGGCTTTGATATAGAGTATTTTCATTCCAGATATTTCACTTCTATAACTCATTTAATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACTTCTGATTAGTATTTATGCTGTAGATTATTCTGTATGGACCTAAACCTAAAATGGTTGGTGCAGATGGCTGACATTGTGTAGACGCTAAGACCAAGCAAGACACAGGCCTGAGGTATCACATCTTTGGCATGTTTCTGAATAACCCACGCAGCCATTGGCCTGTTGGGATGACTTTTAGTATTGGATTGTATACCTGAGTAACACTGAGGCTCAGCCTCTGTAGCCTCTTTCCAGGCCTGGTAGAATCCTATAGAGGAAGCTTTTGGTATATTTGATGCCATCTGCCTGGAGTCATCTAGCATGGTCCTTCATCCGGCAGCTGGGTTTGAAGAGGGAAGGAAAACTCTGGTTGCCTGAGCCTGTGATGACTGAAAATCTAGGCTGTTTTTGAGTGACCTTGTTCCTTATTAAGGAAATTGCTTAACTTCTCCCATCATAGTGTTTTGAAAATGGATACATTGCTGGCTGGCTGATTTAGTATGCATGCATTTATTCTAGGAAGGTCCTCTGAGCACCAACTCTATGCCAAGAGTATGGTGCTAGGCCTGCACAAAACGGGGGACTTTCATTTGTGAGCAATTTGTAAGCAAGTGTTCTGAATTAAGGGCTCTGAATTTAGGTCCTTGGGGACCTTACTGATGGGACTGAGGGATGGCGAGGGCAGAAAGAGTGGGACCTGGCTGGTTGAGGCTGTCAACATCCTGGAGGCACTTCTGACTTGCTGTCTTTTCACTCCGGTACCCCCAGGATCTTTGGCTTTCCTGTGCACTACACAGGCGTGTCCAACATGGGCCGTGGTGCCCGCCAGAAGCTGCTGGGAAGGTCCTGGAGCGTGCCTGTCATCCGACACCTCTTCGCCCCTCTGAAGGACTACTTTGCATGTGAATAGTTCCAGCCAGGCCCCAAGCCCACTGGGGTGTGTGGCAGAGCCAGGACCCAGGAGGTGTGATTCCTGAAGGCATCCCCAGGCCCTGCTCTTCCTCAGCTGTGTGGGTCATACCGTGTACCTCAGTTCCCTCTTGCTCAGTGGGGGCAGAGCCACCTGACTCTTGCAGGGGTAGCCTGAGGTGCCGCCTCCTTGTGCACAAATCAGACCTGGCTGCTTGGAGCAGCCTAACACGGTGCTCATTTTTTCTTCTCCTAAAACTTTAAAACTTGAAGTAGGTAGCAACGTGGCTTTTTTTTTTTCCCTTCCTGGGTCTACCACTCAGAGAAACAATGGCTAAGATACCAAAACCACAGTGCCGACAGCTCTCCAATACTCAGGTTAATGCTGAAAAATCATCCAAGACAGTTATTGCAAGAGTTTAATTTTTGAAAACTGGCTACTGCTCTGTGTTTACAGACGTGTGCAGTTGTAGGCATGTAGCTACAGGACATTTTTAAGGGCCCAGGATCGTTTTTTCCCAGGGCAAGCAGAAGAGAAAATGTTGTATATGTCTTTTACCCGGCACATTCCCCTTGCCTAAATACAAGGGCTGGAGTCTGCACGGGACCTATTAGAGTATTTTCCACAATGATGATGATTTCAGCAGGGATGACGTCATCATCACATTCAGGGCTATTTTTTCCCCCACAAACCCAAGGGCAGGGGCCACTCTTAGCTAAATCCCTCCCCGTGACTGCAATAGAACCCTCTGGGGAGCTCAGGAAGGGGTGTGCTGAGTTCTATAATATAAGCTGCCATATATTTTGTAGACAAGTATGGCTCCTCCATATCTCCCTCTTCCCTAGGAGAGGAGTGTGAAGCAAGGAGCTTAGATAAGACACCCCCTCAAACCCATTCCCTCTCCAGGAGACCTACCCTCCACAGGCACAGGTCCCCAGATGAGAAGTCTGCTACCCTCATTTCTCATCTTTTTACTAAACTCAGAGGCAGTGACAGCAGTCAGGGACAGACATACATTTCTCATACCTTCCCCACATCTGAGAGATGACAGGGAAAACTGCAAAGCTCGGTGCTCCCTTTGGAGATTTTTTAATCCTTTTTTATTCCATAAGAAGTCGTTTTTAGGGAGAACGGGAATTCAGACAAGCTGCATTTCAGAAATGCTGTCATAATGGTTTTTAACACCTTTTACTCTTCTTACTGGTGCTATTTTGTAGAATAAGGAACAACGTTGACAAGTTTTGTGGGGCTTTTTATACACTTTTTAAAATCTCAAACTTCTATTTTTATGTTTAACGTTTTCATTAAAATTTTTTTTGTAACTGGAGCCACGACGTAACAAATATGGGGAAAAAACTGTGCCTTGTTTCAACAGTTTTTGCTAATTTTTAGGCTGAAAGATGACGGATGCCTAGAGTTTACCTTATGTTTAATTAAAATCAGTATTTGTCTATAACTGTCTGATGTCCCTTTTCTTCTGCAGGTCAGATGGATGGGACATGGGGGAGGGCCTGGCTAACATGTCAGGGTGGGAGTTTGGAAGTAGGTGATTCATTCATTCATGTATTCAAACGCAATGTGACCCCAAGCTGACTGGAGCTTACTTACAGTGTAATACACTGGTTCTGCACCATTGGCTCACGCCTGTAATCCTAGCCAGGGTGGGCGGATCTTTTCAGTCCAGGAGTTCGAAACCAGCCTTGCCAACATGGCAAAACCCCGTCCGTACAAAAAAAAAACCAATAATCCAGGCTGGGCACGGTGGCTCATGCCTGTAATCTAAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATTCTGGCTAACCCTGGAAACCCTGTCTCTACTAAAAATACAAATTAGCCAGGTGTGGTAGTCCCAGCTACTCTCAGGAGGCTGAGGCAGAAGAATGTCGT |
Task1_train_27817 | This is a variant in DNMT3B (DNA methyltransferase 3 beta), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | GCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTTTCCCAGGTACTTTTGAGCCTTGACTCCCCAGGTCCCTTCATTCTGTGCTCACTCCATGATGTCATTTTGTTCTCCAGTTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCGATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTGTGGTGCACTGAGCTCGAAAGGTGAGCAAGGCTGCACTTGGAGAGGGAAACTGTGTAGATCAAAACACAAATGGGCAGACATGGGCAGGTGCTTACCTTCATTCTTGATGGCCTCACTGCCCTTTGGTGTTACTGGGGCGAGGAGTAATAATACCTTTTCATAGTTCGCCCTTATTTCCTGACAAAAATGGCGGAGGGGGTGTGGTGGTGGTGAGGAATCTGAGACATGAGGTCATTAGGCCACACCATCTGTCTGTTGGCTGCACTGCCGTGACATCTGCCTGTCCCAACATGCTGGGACACTACGATGTGTGAGAAGCCAGTGAAAGAAAACCCCACAGACATGCCATTCTTGAAGACTTCAGTTTGCTCATTCTATAAATGATTCCTTCTTAGCCACAGTTTATCCTCTCCTTCCCTTTCTTTGGGCTAAGTTTGTCTGTTTTGATGCAAATAACCATCTCTTGGATTTCAGTTCTGTTCTGTTCTGTTTTCTTTCACTCCTCTATTGTTTGTTCATTTTGCTTATACTATTTTTTAAAAATCATTATTTGCTATAGTGATTATGGCTTTGAACATTCCTCTTTACATGTATTCTGTATTCTGAAGGCTTTGATATAGAGTATTTTCATTCCAGATATTTCACTTCTATAACTCATTTAATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACTTCTGATTAGTATTTATGCTGTAGATTATTCTGTATGGACCTAAACCTAAAATGGTTGGTGCAGATGGCTGACATTGTGTAGACGCTAAGACCAAGCAAGACACAGGCCTGAGGTATCACATCTTTGGCATGTTTCTGAATAACCCACGCAGCCATTGGCCTGTTGGGATGACTTTTAGTATTGGATTGTATACCTGAGTAACACTGAGGCTCAGCCTCTGTAGCCTCTTTCCAGGCCTGGTAGAATCCTATAGAGGAAGCTTTTGGTATATTTGATGCCATCTGCCTGGAGTCATCTAGCATGGTCCTTCATCCGGCAGCTGGGTTTGAAGAGGGAAGGAAAACTCTGGTTGCCTGAGCCTGTGATGACTGAAAATCTAGGCTGTTTTTGAGTGACCTTGTTCCTTATTAAGGAAATTGCTTAACTTCTCCCATCATAGTGTTTTGAAAATGGATACATTGCTGGCTGGCTGATTTAGTATGCATGCATTTATTCTAGGAAGGTCCTCTGAGCACCAACTCTATGCCAAGAGTATGGTGCTAGGCCTGCACAAAACGGGGGACTTTCATTTGTGAGCAATTTGTAAGCAAGTGTTCTGAATTAAGGGCTCTGAATTTAGGTCCTTGGGGACCTTACTGATGGGACTGAGGGATGGCGAGGGCAGAAAGAGTGGGACCTGGCTGGTTGAGGCTGTCAACATCCTGGAGGCACTTCTGACTTGCTGTCTTTTCACTCCGGTACCCCCAGGATCTTTGGCTTTCCTGTGCACTACACAGACGTGTCCAACATGGGCCGTGGTGCCCGCCAGAAGCTGCTGGGAAGGTCCTGGAGCGTGCCTGTCATCCGACACCTCTTCGCCCCTCTGAAGGACTACTTTGCATGTGAATAGTTCCAGCCAGGCCCCAAGCCCACTGGGGTGTGTGGCAGAGCCAGGACCCAGGAGGTGTGATTCCTGAAGGCATCCCCAGGCCCTGCTCTTCCTCAGCTGTGTGGGTCATACCGTGTACCTCAGTTCCCTCTTGCTCAGTGGGGGCAGAGCCACCTGACTCTTGCAGGGGTAGCCTGAGGTGCCGCCTCCTTGTGCACAAATCAGACCTGGCTGCTTGGAGCAGCCTAACACGGTGCTCATTTTTTCTTCTCCTAAAACTTTAAAACTTGAAGTAGGTAGCAACGTGGCTTTTTTTTTTTCCCTTCCTGGGTCTACCACTCAGAGAAACAATGGCTAAGATACCAAAACCACAGTGCCGACAGCTCTCCAATACTCAGGTTAATGCTGAAAAATCATCCAAGACAGTTATTGCAAGAGTTTAATTTTTGAAAACTGGCTACTGCTCTGTGTTTACAGACGTGTGCAGTTGTAGGCATGTAGCTACAGGACATTTTTAAGGGCCCAGGATCGTTTTTTCCCAGGGCAAGCAGAAGAGAAAATGTTGTATATGTCTTTTACCCGGCACATTCCCCTTGCCTAAATACAAGGGCTGGAGTCTGCACGGGACCTATTAGAGTATTTTCCACAATGATGATGATTTCAGCAGGGATGACGTCATCATCACATTCAGGGCTATTTTTTCCCCCACAAACCCAAGGGCAGGGGCCACTCTTAGCTAAATCCCTCCCCGTGACTGCAATAGAACCCTCTGGGGAGCTCAGGAAGGGGTGTGCTGAGTTCTATAATATAAGCTGCCATATATTTTGTAGACAAGTATGGCTCCTCCATATCTCCCTCTTCCCTAGGAGAGGAGTGTGAAGCAAGGAGCTTAGATAAGACACCCCCTCAAACCCATTCCCTCTCCAGGAGACCTACCCTCCACAGGCACAGGTCCCCAGATGAGAAGTCTGCTACCCTCATTTCTCATCTTTTTACTAAACTCAGAGGCAGTGACAGCAGTCAGGGACAGACATACATTTCTCATACCTTCCCCACATCTGAGAGATGACAGGGAAAACTGCAAAGCTCGGTGCTCCCTTTGGAGATTTTTTAATCCTTTTTTATTCCATAAGAAGTCGTTTTTAGGGAGAACGGGAATTCAGACAAGCTGCATTTCAGAAATGCTGTCATAATGGTTTTTAACACCTTTTACTCTTCTTACTGGTGCTATTTTGTAGAATAAGGAACAACGTTGACAAGTTTTGTGGGGCTTTTTATACACTTTTTAAAATCTCAAACTTCTATTTTTATGTTTAACGTTTTCATTAAAATTTTTTTTGTAACTGGAGCCACGACGTAACAAATATGGGGAAAAAACTGTGCCTTGTTTCAACAGTTTTTGCTAATTTTTAGGCTGAAAGATGACGGATGCCTAGAGTTTACCTTATGTTTAATTAAAATCAGTATTTGTCTATAACTGTCTGATGTCCCTTTTCTTCTGCAGGTCAGATGGATGGGACATGGGGGAGGGCCTGGCTAACATGTCAGGGTGGGAGTTTGGAAGTAGGTGATTCATTCATTCATGTATTCAAACGCAATGTGACCCCAAGCTGACTGGAGCTTACTTACAGTGTAATACACTGGTTCTGCACCATTGGCTCACGCCTGTAATCCTAGCCAGGGTGGGCGGATCTTTTCAGTCCAGGAGTTCGAAACCAGCCTTGCCAACATGGCAAAACCCCGTCCGTACAAAAAAAAAACCAATAATCCAGGCTGGGCACGGTGGCTCATGCCTGTAATCTAAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATTCTGGCTAACCCTGGAAACCCTGTCTCTACTAAAAATACAAATTAGCCAGGTGTGGTAGTCCCAGCTACTCTCAGGAGGCTGAGGCAGAAGAATGTCGTGAACCCAGGAGGCGGAGCTTGCAGTGAACCTAGACCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCA | GCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTTTCCCAGGTACTTTTGAGCCTTGACTCCCCAGGTCCCTTCATTCTGTGCTCACTCCATGATGTCATTTTGTTCTCCAGTTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCGATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTGTGGTGCACTGAGCTCGAAAGGTGAGCAAGGCTGCACTTGGAGAGGGAAACTGTGTAGATCAAAACACAAATGGGCAGACATGGGCAGGTGCTTACCTTCATTCTTGATGGCCTCACTGCCCTTTGGTGTTACTGGGGCGAGGAGTAATAATACCTTTTCATAGTTCGCCCTTATTTCCTGACAAAAATGGCGGAGGGGGTGTGGTGGTGGTGAGGAATCTGAGACATGAGGTCATTAGGCCACACCATCTGTCTGTTGGCTGCACTGCCGTGACATCTGCCTGTCCCAACATGCTGGGACACTACGATGTGTGAGAAGCCAGTGAAAGAAAACCCCACAGACATGCCATTCTTGAAGACTTCAGTTTGCTCATTCTATAAATGATTCCTTCTTAGCCACAGTTTATCCTCTCCTTCCCTTTCTTTGGGCTAAGTTTGTCTGTTTTGATGCAAATAACCATCTCTTGGATTTCAGTTCTGTTCTGTTCTGTTTTCTTTCACTCCTCTATTGTTTGTTCATTTTGCTTATACTATTTTTTAAAAATCATTATTTGCTATAGTGATTATGGCTTTGAACATTCCTCTTTACATGTATTCTGTATTCTGAAGGCTTTGATATAGAGTATTTTCATTCCAGATATTTCACTTCTATAACTCATTTAATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACTTCTGATTAGTATTTATGCTGTAGATTATTCTGTATGGACCTAAACCTAAAATGGTTGGTGCAGATGGCTGACATTGTGTAGACGCTAAGACCAAGCAAGACACAGGCCTGAGGTATCACATCTTTGGCATGTTTCTGAATAACCCACGCAGCCATTGGCCTGTTGGGATGACTTTTAGTATTGGATTGTATACCTGAGTAACACTGAGGCTCAGCCTCTGTAGCCTCTTTCCAGGCCTGGTAGAATCCTATAGAGGAAGCTTTTGGTATATTTGATGCCATCTGCCTGGAGTCATCTAGCATGGTCCTTCATCCGGCAGCTGGGTTTGAAGAGGGAAGGAAAACTCTGGTTGCCTGAGCCTGTGATGACTGAAAATCTAGGCTGTTTTTGAGTGACCTTGTTCCTTATTAAGGAAATTGCTTAACTTCTCCCATCATAGTGTTTTGAAAATGGATACATTGCTGGCTGGCTGATTTAGTATGCATGCATTTATTCTAGGAAGGTCCTCTGAGCACCAACTCTATGCCAAGAGTATGGTGCTAGGCCTGCACAAAACGGGGGACTTTCATTTGTGAGCAATTTGTAAGCAAGTGTTCTGAATTAAGGGCTCTGAATTTAGGTCCTTGGGGACCTTACTGATGGGACTGAGGGATGGCGAGGGCAGAAAGAGTGGGACCTGGCTGGTTGAGGCTGTCAACATCCTGGAGGCACTTCTGACTTGCTGTCTTTTCACTCCGGTACCCCCAGGATCTTTGGCTTTCCTGTGCACTACACAGACGTGTCCAACATGGGCCGTGGTGCCCGCCAGAAGCTGCTGGGAAGGTCCTGGAGCGTGCCTGTCATCCAACACCTCTTCGCCCCTCTGAAGGACTACTTTGCATGTGAATAGTTCCAGCCAGGCCCCAAGCCCACTGGGGTGTGTGGCAGAGCCAGGACCCAGGAGGTGTGATTCCTGAAGGCATCCCCAGGCCCTGCTCTTCCTCAGCTGTGTGGGTCATACCGTGTACCTCAGTTCCCTCTTGCTCAGTGGGGGCAGAGCCACCTGACTCTTGCAGGGGTAGCCTGAGGTGCCGCCTCCTTGTGCACAAATCAGACCTGGCTGCTTGGAGCAGCCTAACACGGTGCTCATTTTTTCTTCTCCTAAAACTTTAAAACTTGAAGTAGGTAGCAACGTGGCTTTTTTTTTTTCCCTTCCTGGGTCTACCACTCAGAGAAACAATGGCTAAGATACCAAAACCACAGTGCCGACAGCTCTCCAATACTCAGGTTAATGCTGAAAAATCATCCAAGACAGTTATTGCAAGAGTTTAATTTTTGAAAACTGGCTACTGCTCTGTGTTTACAGACGTGTGCAGTTGTAGGCATGTAGCTACAGGACATTTTTAAGGGCCCAGGATCGTTTTTTCCCAGGGCAAGCAGAAGAGAAAATGTTGTATATGTCTTTTACCCGGCACATTCCCCTTGCCTAAATACAAGGGCTGGAGTCTGCACGGGACCTATTAGAGTATTTTCCACAATGATGATGATTTCAGCAGGGATGACGTCATCATCACATTCAGGGCTATTTTTTCCCCCACAAACCCAAGGGCAGGGGCCACTCTTAGCTAAATCCCTCCCCGTGACTGCAATAGAACCCTCTGGGGAGCTCAGGAAGGGGTGTGCTGAGTTCTATAATATAAGCTGCCATATATTTTGTAGACAAGTATGGCTCCTCCATATCTCCCTCTTCCCTAGGAGAGGAGTGTGAAGCAAGGAGCTTAGATAAGACACCCCCTCAAACCCATTCCCTCTCCAGGAGACCTACCCTCCACAGGCACAGGTCCCCAGATGAGAAGTCTGCTACCCTCATTTCTCATCTTTTTACTAAACTCAGAGGCAGTGACAGCAGTCAGGGACAGACATACATTTCTCATACCTTCCCCACATCTGAGAGATGACAGGGAAAACTGCAAAGCTCGGTGCTCCCTTTGGAGATTTTTTAATCCTTTTTTATTCCATAAGAAGTCGTTTTTAGGGAGAACGGGAATTCAGACAAGCTGCATTTCAGAAATGCTGTCATAATGGTTTTTAACACCTTTTACTCTTCTTACTGGTGCTATTTTGTAGAATAAGGAACAACGTTGACAAGTTTTGTGGGGCTTTTTATACACTTTTTAAAATCTCAAACTTCTATTTTTATGTTTAACGTTTTCATTAAAATTTTTTTTGTAACTGGAGCCACGACGTAACAAATATGGGGAAAAAACTGTGCCTTGTTTCAACAGTTTTTGCTAATTTTTAGGCTGAAAGATGACGGATGCCTAGAGTTTACCTTATGTTTAATTAAAATCAGTATTTGTCTATAACTGTCTGATGTCCCTTTTCTTCTGCAGGTCAGATGGATGGGACATGGGGGAGGGCCTGGCTAACATGTCAGGGTGGGAGTTTGGAAGTAGGTGATTCATTCATTCATGTATTCAAACGCAATGTGACCCCAAGCTGACTGGAGCTTACTTACAGTGTAATACACTGGTTCTGCACCATTGGCTCACGCCTGTAATCCTAGCCAGGGTGGGCGGATCTTTTCAGTCCAGGAGTTCGAAACCAGCCTTGCCAACATGGCAAAACCCCGTCCGTACAAAAAAAAAACCAATAATCCAGGCTGGGCACGGTGGCTCATGCCTGTAATCTAAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATTCTGGCTAACCCTGGAAACCCTGTCTCTACTAAAAATACAAATTAGCCAGGTGTGGTAGTCCCAGCTACTCTCAGGAGGCTGAGGCAGAAGAATGTCGTGAACCCAGGAGGCGGAGCTTGCAGTGAACCTAGACCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCA |
Task1_train_27818 | A variant affecting Chromosome 20, within the gene DNMT3B (DNA methyltransferase 3 beta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | GCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTTTCCCAGGTACTTTTGAGCCTTGACTCCCCAGGTCCCTTCATTCTGTGCTCACTCCATGATGTCATTTTGTTCTCCAGTTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCGATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTGTGGTGCACTGAGCTCGAAAGGTGAGCAAGGCTGCACTTGGAGAGGGAAACTGTGTAGATCAAAACACAAATGGGCAGACATGGGCAGGTGCTTACCTTCATTCTTGATGGCCTCACTGCCCTTTGGTGTTACTGGGGCGAGGAGTAATAATACCTTTTCATAGTTCGCCCTTATTTCCTGACAAAAATGGCGGAGGGGGTGTGGTGGTGGTGAGGAATCTGAGACATGAGGTCATTAGGCCACACCATCTGTCTGTTGGCTGCACTGCCGTGACATCTGCCTGTCCCAACATGCTGGGACACTACGATGTGTGAGAAGCCAGTGAAAGAAAACCCCACAGACATGCCATTCTTGAAGACTTCAGTTTGCTCATTCTATAAATGATTCCTTCTTAGCCACAGTTTATCCTCTCCTTCCCTTTCTTTGGGCTAAGTTTGTCTGTTTTGATGCAAATAACCATCTCTTGGATTTCAGTTCTGTTCTGTTCTGTTTTCTTTCACTCCTCTATTGTTTGTTCATTTTGCTTATACTATTTTTTAAAAATCATTATTTGCTATAGTGATTATGGCTTTGAACATTCCTCTTTACATGTATTCTGTATTCTGAAGGCTTTGATATAGAGTATTTTCATTCCAGATATTTCACTTCTATAACTCATTTAATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACTTCTGATTAGTATTTATGCTGTAGATTATTCTGTATGGACCTAAACCTAAAATGGTTGGTGCAGATGGCTGACATTGTGTAGACGCTAAGACCAAGCAAGACACAGGCCTGAGGTATCACATCTTTGGCATGTTTCTGAATAACCCACGCAGCCATTGGCCTGTTGGGATGACTTTTAGTATTGGATTGTATACCTGAGTAACACTGAGGCTCAGCCTCTGTAGCCTCTTTCCAGGCCTGGTAGAATCCTATAGAGGAAGCTTTTGGTATATTTGATGCCATCTGCCTGGAGTCATCTAGCATGGTCCTTCATCCGGCAGCTGGGTTTGAAGAGGGAAGGAAAACTCTGGTTGCCTGAGCCTGTGATGACTGAAAATCTAGGCTGTTTTTGAGTGACCTTGTTCCTTATTAAGGAAATTGCTTAACTTCTCCCATCATAGTGTTTTGAAAATGGATACATTGCTGGCTGGCTGATTTAGTATGCATGCATTTATTCTAGGAAGGTCCTCTGAGCACCAACTCTATGCCAAGAGTATGGTGCTAGGCCTGCACAAAACGGGGGACTTTCATTTGTGAGCAATTTGTAAGCAAGTGTTCTGAATTAAGGGCTCTGAATTTAGGTCCTTGGGGACCTTACTGATGGGACTGAGGGATGGCGAGGGCAGAAAGAGTGGGACCTGGCTGGTTGAGGCTGTCAACATCCTGGAGGCACTTCTGACTTGCTGTCTTTTCACTCCGGTACCCCCAGGATCTTTGGCTTTCCTGTGCACTACACAGACGTGTCCAACATGGGCCGTGGTGCCCGCCAGAAGCTGCTGGGAAGGTCCTGGAGCGTGCCTGTCATCCGACACCTCTTCGCCCCTCTGAAGGACTACTTTGCATGTGAATAGTTCCAGCCAGGCCCCAAGCCCACTGGGGTGTGTGGCAGAGCCAGGACCCAGGAGGTGTGATTCCTGAAGGCATCCCCAGGCCCTGCTCTTCCTCAGCTGTGTGGGTCATACCGTGTACCTCAGTTCCCTCTTGCTCAGTGGGGGCAGAGCCACCTGACTCTTGCAGGGGTAGCCTGAGGTGCCGCCTCCTTGTGCACAAATCAGACCTGGCTGCTTGGAGCAGCCTAACACGGTGCTCATTTTTTCTTCTCCTAAAACTTTAAAACTTGAAGTAGGTAGCAACGTGGCTTTTTTTTTTTCCCTTCCTGGGTCTACCACTCAGAGAAACAATGGCTAAGATACCAAAACCACAGTGCCGACAGCTCTCCAATACTCAGGTTAATGCTGAAAAATCATCCAAGACAGTTATTGCAAGAGTTTAATTTTTGAAAACTGGCTACTGCTCTGTGTTTACAGACGTGTGCAGTTGTAGGCATGTAGCTACAGGACATTTTTAAGGGCCCAGGATCGTTTTTTCCCAGGGCAAGCAGAAGAGAAAATGTTGTATATGTCTTTTACCCGGCACATTCCCCTTGCCTAAATACAAGGGCTGGAGTCTGCACGGGACCTATTAGAGTATTTTCCACAATGATGATGATTTCAGCAGGGATGACGTCATCATCACATTCAGGGCTATTTTTTCCCCCACAAACCCAAGGGCAGGGGCCACTCTTAGCTAAATCCCTCCCCGTGACTGCAATAGAACCCTCTGGGGAGCTCAGGAAGGGGTGTGCTGAGTTCTATAATATAAGCTGCCATATATTTTGTAGACAAGTATGGCTCCTCCATATCTCCCTCTTCCCTAGGAGAGGAGTGTGAAGCAAGGAGCTTAGATAAGACACCCCCTCAAACCCATTCCCTCTCCAGGAGACCTACCCTCCACAGGCACAGGTCCCCAGATGAGAAGTCTGCTACCCTCATTTCTCATCTTTTTACTAAACTCAGAGGCAGTGACAGCAGTCAGGGACAGACATACATTTCTCATACCTTCCCCACATCTGAGAGATGACAGGGAAAACTGCAAAGCTCGGTGCTCCCTTTGGAGATTTTTTAATCCTTTTTTATTCCATAAGAAGTCGTTTTTAGGGAGAACGGGAATTCAGACAAGCTGCATTTCAGAAATGCTGTCATAATGGTTTTTAACACCTTTTACTCTTCTTACTGGTGCTATTTTGTAGAATAAGGAACAACGTTGACAAGTTTTGTGGGGCTTTTTATACACTTTTTAAAATCTCAAACTTCTATTTTTATGTTTAACGTTTTCATTAAAATTTTTTTTGTAACTGGAGCCACGACGTAACAAATATGGGGAAAAAACTGTGCCTTGTTTCAACAGTTTTTGCTAATTTTTAGGCTGAAAGATGACGGATGCCTAGAGTTTACCTTATGTTTAATTAAAATCAGTATTTGTCTATAACTGTCTGATGTCCCTTTTCTTCTGCAGGTCAGATGGATGGGACATGGGGGAGGGCCTGGCTAACATGTCAGGGTGGGAGTTTGGAAGTAGGTGATTCATTCATTCATGTATTCAAACGCAATGTGACCCCAAGCTGACTGGAGCTTACTTACAGTGTAATACACTGGTTCTGCACCATTGGCTCACGCCTGTAATCCTAGCCAGGGTGGGCGGATCTTTTCAGTCCAGGAGTTCGAAACCAGCCTTGCCAACATGGCAAAACCCCGTCCGTACAAAAAAAAAACCAATAATCCAGGCTGGGCACGGTGGCTCATGCCTGTAATCTAAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATTCTGGCTAACCCTGGAAACCCTGTCTCTACTAAAAATACAAATTAGCCAGGTGTGGTAGTCCCAGCTACTCTCAGGAGGCTGAGGCAGAAGAATGTCGTGAACCCAGGAGGCGGAGCTTGCAGTGAACCTAGACCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCA | GCATTCTCTGTATCTGGGTGGTTTTTACTTTTTTACTTAATCTTGCTTGATCAGGAACTCTGGTGTCTTCTTGGCCCCCCACGTGATCTCGTTCATGGTCACTTTTTTGTTTATCTCATTTTCTCTGAGGCTGGTCCTTCCTGTTAACGTCTTGGCATTTGTGGGAAGCACAAAATGTTCTTGTCTCTCCAACTCTGCTTTTCGCTCCCTGCCCTGCCATTCCTCTCCCGCGCCTGCCCTCTCCCTTCCATCTTTCCCAGGTACTTTTCTCTCCCAGCCCTGCCACTCTTCTGCCGCACCTGCGCTCTCCCCTCCATCTTTCCCAGGTACTTTTGAGCCTTGACTCCCCAGGTCCCTTCATTCTGTGCTCACTCCATGATGTCATTTTGTTCTCCAGTTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCGATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTGTGGTGCACTGAGCTCGAAAGGTGAGCAAGGCTGCACTTGGAGAGGGAAACTGTGTAGATCAAAACACAAATGGGCAGACATGGGCAGGTGCTTACCTTCATTCTTGATGGCCTCACTGCCCTTTGGTGTTACTGGGGCGAGGAGTAATAATACCTTTTCATAGTTCGCCCTTATTTCCTGACAAAAATGGCGGAGGGGGTGTGGTGGTGGTGAGGAATCTGAGACATGAGGTCATTAGGCCACACCATCTGTCTGTTGGCTGCACTGCCGTGACATCTGCCTGTCCCAACATGCTGGGACACTACGATGTGTGAGAAGCCAGTGAAAGAAAACCCCACAGACATGCCATTCTTGAAGACTTCAGTTTGCTCATTCTATAAATGATTCCTTCTTAGCCACAGTTTATCCTCTCCTTCCCTTTCTTTGGGCTAAGTTTGTCTGTTTTGATGCAAATAACCATCTCTTGGATTTCAGTTCTGTTCTGTTCTGTTTTCTTTCACTCCTCTATTGTTTGTTCATTTTGCTTATACTATTTTTTAAAAATCATTATTTGCTATAGTGATTATGGCTTTGAACATTCCTCTTTACATGTATTCTGTATTCTGAAGGCTTTGATATAGAGTATTTTCATTCCAGATATTTCACTTCTATAACTCATTTAATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACTTCTGATTAGTATTTATGCTGTAGATTATTCTGTATGGACCTAAACCTAAAATGGTTGGTGCAGATGGCTGACATTGTGTAGACGCTAAGACCAAGCAAGACACAGGCCTGAGGTATCACATCTTTGGCATGTTTCTGAATAACCCACGCAGCCATTGGCCTGTTGGGATGACTTTTAGTATTGGATTGTATACCTGAGTAACACTGAGGCTCAGCCTCTGTAGCCTCTTTCCAGGCCTGGTAGAATCCTATAGAGGAAGCTTTTGGTATATTTGATGCCATCTGCCTGGAGTCATCTAGCATGGTCCTTCATCCGGCAGCTGGGTTTGAAGAGGGAAGGAAAACTCTGGTTGCCTGAGCCTGTGATGACTGAAAATCTAGGCTGTTTTTGAGTGACCTTGTTCCTTATTAAGGAAATTGCTTAACTTCTCCCATCATAGTGTTTTGAAAATGGATACATTGCTGGCTGGCTGATTTAGTATGCATGCATTTATTCTAGGAAGGTCCTCTGAGCACCAACTCTATGCCAAGAGTATGGTGCTAGGCCTGCACAAAACGGGGGACTTTCATTTGTGAGCAATTTGTAAGCAAGTGTTCTGAATTAAGGGCTCTGAATTTAGGTCCTTGGGGACCTTACTGATGGGACTGAGGGATGGCGAGGGCAGAAAGAGTGGGACCTGGCTGGTTGAGGCTGTCAACATCCTGGAGGCACTTCTGACTTGCTGTCTTTTCACTCCGGTACCCCCAGGATCTTTGGCTTTCCTGTGCACTACACAGACGTGTCCAACATGGGCCGTGGTGCCCGCCAGAAGCTGCTGGGAAGGTCCTGGAGCGTGCCTGTCATCCAACACCTCTTCGCCCCTCTGAAGGACTACTTTGCATGTGAATAGTTCCAGCCAGGCCCCAAGCCCACTGGGGTGTGTGGCAGAGCCAGGACCCAGGAGGTGTGATTCCTGAAGGCATCCCCAGGCCCTGCTCTTCCTCAGCTGTGTGGGTCATACCGTGTACCTCAGTTCCCTCTTGCTCAGTGGGGGCAGAGCCACCTGACTCTTGCAGGGGTAGCCTGAGGTGCCGCCTCCTTGTGCACAAATCAGACCTGGCTGCTTGGAGCAGCCTAACACGGTGCTCATTTTTTCTTCTCCTAAAACTTTAAAACTTGAAGTAGGTAGCAACGTGGCTTTTTTTTTTTCCCTTCCTGGGTCTACCACTCAGAGAAACAATGGCTAAGATACCAAAACCACAGTGCCGACAGCTCTCCAATACTCAGGTTAATGCTGAAAAATCATCCAAGACAGTTATTGCAAGAGTTTAATTTTTGAAAACTGGCTACTGCTCTGTGTTTACAGACGTGTGCAGTTGTAGGCATGTAGCTACAGGACATTTTTAAGGGCCCAGGATCGTTTTTTCCCAGGGCAAGCAGAAGAGAAAATGTTGTATATGTCTTTTACCCGGCACATTCCCCTTGCCTAAATACAAGGGCTGGAGTCTGCACGGGACCTATTAGAGTATTTTCCACAATGATGATGATTTCAGCAGGGATGACGTCATCATCACATTCAGGGCTATTTTTTCCCCCACAAACCCAAGGGCAGGGGCCACTCTTAGCTAAATCCCTCCCCGTGACTGCAATAGAACCCTCTGGGGAGCTCAGGAAGGGGTGTGCTGAGTTCTATAATATAAGCTGCCATATATTTTGTAGACAAGTATGGCTCCTCCATATCTCCCTCTTCCCTAGGAGAGGAGTGTGAAGCAAGGAGCTTAGATAAGACACCCCCTCAAACCCATTCCCTCTCCAGGAGACCTACCCTCCACAGGCACAGGTCCCCAGATGAGAAGTCTGCTACCCTCATTTCTCATCTTTTTACTAAACTCAGAGGCAGTGACAGCAGTCAGGGACAGACATACATTTCTCATACCTTCCCCACATCTGAGAGATGACAGGGAAAACTGCAAAGCTCGGTGCTCCCTTTGGAGATTTTTTAATCCTTTTTTATTCCATAAGAAGTCGTTTTTAGGGAGAACGGGAATTCAGACAAGCTGCATTTCAGAAATGCTGTCATAATGGTTTTTAACACCTTTTACTCTTCTTACTGGTGCTATTTTGTAGAATAAGGAACAACGTTGACAAGTTTTGTGGGGCTTTTTATACACTTTTTAAAATCTCAAACTTCTATTTTTATGTTTAACGTTTTCATTAAAATTTTTTTTGTAACTGGAGCCACGACGTAACAAATATGGGGAAAAAACTGTGCCTTGTTTCAACAGTTTTTGCTAATTTTTAGGCTGAAAGATGACGGATGCCTAGAGTTTACCTTATGTTTAATTAAAATCAGTATTTGTCTATAACTGTCTGATGTCCCTTTTCTTCTGCAGGTCAGATGGATGGGACATGGGGGAGGGCCTGGCTAACATGTCAGGGTGGGAGTTTGGAAGTAGGTGATTCATTCATTCATGTATTCAAACGCAATGTGACCCCAAGCTGACTGGAGCTTACTTACAGTGTAATACACTGGTTCTGCACCATTGGCTCACGCCTGTAATCCTAGCCAGGGTGGGCGGATCTTTTCAGTCCAGGAGTTCGAAACCAGCCTTGCCAACATGGCAAAACCCCGTCCGTACAAAAAAAAAACCAATAATCCAGGCTGGGCACGGTGGCTCATGCCTGTAATCTAAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATTCTGGCTAACCCTGGAAACCCTGTCTCTACTAAAAATACAAATTAGCCAGGTGTGGTAGTCCCAGCTACTCTCAGGAGGCTGAGGCAGAAGAATGTCGTGAACCCAGGAGGCGGAGCTTGCAGTGAACCTAGACCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCA |
Task1_train_27819 | A variant on Chromosome 20 in gene SUN5 (Sad1 and UNC84 domain containing 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spermatogenic failure 16 | ACTCAGACTTGGTCTGGGGGTAAAGAATAAATTTTAATCTCTCTTAGGGTAGGGGTTCTGGTGAGGCTGCTCTCTGGGCGGGGCCACAGAGCCATGCACTCGCACGCGGTACAGGCAAGTGAAGCCTGGGTTCCCCCAGTTGCTTGAGATCTTCACCTTGACCGCACTGAAAGCCCGGGCCGGCTGGTTCTGGAAGAGAATCAGTCACAGAGGCAGCTCACCCATAGACTCCCACCCTGCCTTTCCAAAGGTGGGGAGTGGAAGGGAAGTTTCCCATTTCATAGGTGGGAAAACTAAGGCCCAGACAGGAGGATGGACTGTCCCAAGGCCTCACAGCAAGTCGATATTCAGGAGCTCTTACTGAAGATGCTGAGGCCAGAAGGACAGACATGCTGTGGGTAAGGAAATGTCCTGGCCTTAATGCTGTGGGATCTTGGGCAAACCTCCACCCTTTCTGGGCCTCAGTCTCCCACTCCTGCCCTGCCCCGCCCGTAAGATGGGAATGGTAATATCTGCTTCCCAGGATTGCGGTGGGCATGAAATGAGATTTTGGGAACAGGCGGCCTCTAGAAGAGAATCATTCACAGAGGCAGCTCATCCACAGACTCCCGGCACATAGTAAGTTCTCTGTAAGTGAGGCCCCTCCCCGTTTTTGCCAAGCAAGAGGGGGTGGAGCCTGTGTTTATTACTCTCCCTATCTAGTGTAAAAAGTGGGGCGGGCTTGGCCTTCACTGAATGTTTTCAACCTCCCAGGGAATGACAGAAGGGGAAAACTGAGGCTCCAGAGAAGCAGGGCTTGGCCCAAGCTCACACATAATTTGTGGTTGGGCAGAAATTCGGGCCAGTATGGGTTTGATTCCCAAGCCTGAACCTTCACCCTGTCAAGCCCCAGGGCCATTCCAGTGGTCACTCCTCCGGACCTGCTTCTGTCTCCAAACCCCTCTCCTTCAGGCCTCAGTTTCCCCACCTGTGGTTGGATCCAGTGATAATTATGGGGCCACCCACTACGGAGACTCTACCTTTGGAGCCAGCAGCCCCTGCCCAATGGGAACCTCTTGCTCAGCGTCTGCTGTCCCCGGGAAGAAACACAGCAAGAGGGCTCCTGGGCTCATCAGGAAAAAGGGGACATGGCCACAGGCGGTGGGATCTCCCTGGAGTCCCATTTGGCCCTGGGTAGCGGCTCCTACTCTCTGAGCCTCAGTTTCCTTGCCTGTCAAACAGGTTAGTCATGACTGGGCACCTCCTGGGGATACTGGGGGATGAAGAGGGGGTCCCTGGGTACAGACTGCACACTGTGCATTCAGCAGGTGCTCAGCACAGGCAGCTCTTCGCAGGTACCTGGAGTGGGAACATCTGGATGATGTTTTCTGGCTGAAACTGAAATGCCCCCAGGAACACCTCCTCCTTGGGGGAGCCCTCCATGCCCTGTGGAACCAGAACCAAGGTGAAGGCGTCAGATACAAGCAGGGCCCTCAGAGGGTGTCTCCCCTCTCCAGTGGAGACTTGCACACTCCCCAGGATGGGAGCTCACTACCTCTTTGGGCACCGTTTCACTGTGGCACAGTGTAATGAATAGGAAAGAGCACTGGCCTGGGAGTCAGAGCCTGGGGGTCTATGACTAGCTCTGCCATTGACTTGTAGGATTAGGGTGTTTCCCTGATCCTTCTCTGGACCTTATTTCACCGAGACAGTTCAGATAACGCTTCGGACCTTCTTAGCAAAATGGGGGCTCCATGGTCTCTGAAGATTATCTCGGCTCTGAAAAGCTTGGTTTAAAATAGAGTAGCTGTTTATCCCCTACCCTTGAAGGCTGAAATTGGACCCCAGCGCTGGCCACTTCCAGCCTTAACCAAGCTGCATTCAGCCCCTCCAGCCTGCAAGTGTTGTGCAGACACTGTTTACCCCAGGCCTGGAATATCACCATTGGAAGGTTGTCCCTTTAGCTAAGCATAGCTCCCTGCAGGGGAGTGCTCACATAGATGACGAAGTCCTTGGGGGCGGTGTCCAGGCTGCCTGACAATGAGATGGTCTTGGGGATGTGCTGCAGCGTGAGGTTGGACAGGTAAACCTTCTGAGCCAATTGGATGGTCACCTGGCCGCGGTCACCCTCAAAGGCCCAGCAATTGCCAGGTGTCACGTTGGGCTAGAAGAGGCAAGTACAATAAGGGATATGCTGGGTGGGTAGGGGGATCATCCCACCTTTGATCCCCTGTACTTCCTGGGACCTCCTGGGTGAGCCAGTCCTTTCTTGTCTCCAAAGCTTGGCTCAAGTGCCACCCCCTCCAGGAAGCTCTCCTGACTACCCATGCAGGGGGTAAGCCTTACTTCAGTTCAATGCAGTAAGGGAGGGGCCTGCTTGGGACCTCCCAGCCTCCACCCGCTCCCCACTGGCACCCATTCATTCATTCATTTACTCACTCACTCATTCATTCATTCACTCATTCATCCCTCCCATTATTCTTTACATGGTCTTACAATCACCCCATGACTTAGGCATCATCACTATCCCCGTTTTGAAGGTGAGGAAACTGAGTTGGGGGAGCAGGACAATGACTGGTCCAGGGCCATGCAGAGCTGGAAGTGCAGCCCAGGGAATCTGACCTTGGAACTTGCCATTAAGCACCACGATCTCCTGCCCCACAGACGGGGAAACAGGCCCAGGGAGAGAAAGAGGTTTGATGGAAATCACCCAGGAAAGGCGATTACTCGGTCGGTTCTGAGCTTCTGGAGCCATGGCATGGACAGTCCTTATTTGAACAGTGGATGCTAGCCCAGGGGTGCAGGGGGCTGTGGGTGTCAGGGAAGGCCTCCTGAGGAGCTGGGGCCAGGGGAGATGAGGAGCCAGCTGGGAAAGGGAGCTAAGGGAACAGCACGGGAAAGGACCAGGGGCGAGCCAGGCTTGATGATGTGAGGACCTGGAGAGCTCAGTCAGGCTGGAGCTGGGAGAGGGCCCAGGAGGGGCAGAGTCTTGGCTGGGCTGCTTTTCACTACTGCTCCAAACCTGACTGCAGCCAGCGCTTTGCAACCCAGCCACTGCCCGCCGCGTCCCCCGCCCCAGCCTGGATGTGTGCACCACCCCCCACTCCCGGGCCCTGTGCTTGGCCTGTGCCCCTGCGTTCTATCTGCCTGCGGATCTGCTAGTCCTCGGCTGCGGCCACCAGGAAGCCCCTTGCCCCGTCCAAGCTGAGCAAGGCCAATGCCCCAGCTTGACCTCGAGTGCCAAGATCTTGGAGCTCCTTAAGGTAGAACCCACGGATGAGTGGCCTGTGACCTTTTGGCATCACCCAGGGTGTGCCACTGGGATGACACTCTCAGCCAGTGTTCACTGAATGAAGGCACCTGCTTTGTGACCAGGACAAGCCCTTTCCTTCTCTGGGCCTCATTTTCCTCATCTGTGAGGCAGGATCCTGGAGGGCTGAAGAGCTCAGGTTTGAACTCTGGCTCTGCTACATACTAGTGACCAGCTCTGTGGCCACAGTCAAGTGACCTGGCTCTTTGAGCCTCAGTTTCCTTTTCTGCAAAATGGGTCTATGATGGGCCCATGCCCAGTGTAGTCCTGAGGTTTCTCTGACCCTCAAATCTTAAGGGCTGAGTGGTGGGGTCCCTCCCAATGCCAAAGCAAGCTGTCCCTCTGTTTCGCTCCTACCCTAGCCCCAGCAGCCCCTGCTGTCTGTTCTCACCTCCTGCCCCCGCCTTCTCCCCAGCCCCCGCCTTGTCAGTAGCCCCCTCCTTCTGCTCCCTGCCTTTGCCCCTGCATCTGTCTCCTGCTCCTACCTCTAACCCCGCCCCTGCCCCCACTCCCTTTGCTCCCACCCCCTACCTCTTCTGCCAGCTCCTGTCCCCAAACCCTGCCCGGACCACTCCCCTGCCGCTGTCCCATCTCCCGCCATCCCCCCTGCCTCAAGGATCACGTCTGGGGGCTGTGCGTAGTTCCACAGCTGGATCCAGTTCCAGTAGGAGTGGGCCTTCTCATGGTTATAGGTGACTGACGTGTGCTCAAAGTCAATGCTGGCCCCTGTATAGGAGAAGGGGGTCTCAGCCAAGCAGCCGGGCTTCTGCCTGGTGGAGGGGACGCCACTGATGGGCCCTGACTATG | ACTCAGACTTGGTCTGGGGGTAAAGAATAAATTTTAATCTCTCTTAGGGTAGGGGTTCTGGTGAGGCTGCTCTCTGGGCGGGGCCACAGAGCCATGCACTCGCACGCGGTACAGGCAAGTGAAGCCTGGGTTCCCCCAGTTGCTTGAGATCTTCACCTTGACCGCACTGAAAGCCCGGGCCGGCTGGTTCTGGAAGAGAATCAGTCACAGAGGCAGCTCACCCATAGACTCCCACCCTGCCTTTCCAAAGGTGGGGAGTGGAAGGGAAGTTTCCCATTTCATAGGTGGGAAAACTAAGGCCCAGACAGGAGGATGGACTGTCCCAAGGCCTCACAGCAAGTCGATATTCAGGAGCTCTTACTGAAGATGCTGAGGCCAGAAGGACAGACATGCTGTGGGTAAGGAAATGTCCTGGCCTTAATGCTGTGGGATCTTGGGCAAACCTCCACCCTTTCTGGGCCTCAGTCTCCCACTCCTGCCCTGCCCCGCCCGTAAGATGGGAATGGTAATATCTGCTTCCCAGGATTGCGGTGGGCATGAAATGAGATTTTGGGAACAGGCGGCCTCTAGAAGAGAATCATTCACAGAGGCAGCTCATCCACAGACTCCCGGCACATAGTAAGTTCTCTGTAAGTGAGGCCCCTCCCCGTTTTTGCCAAGCAAGAGGGGGTGGAGCCTGTGTTTATTACTCTCCCTATCTAGTGTAAAAAGTGGGGCGGGCTTGGCCTTCACTGAATGTTTTCAACCTCCCAGGGAATGACAGAAGGGGAAAACTGAGGCTCCAGAGAAGCAGGGCTTGGCCCAAGCTCACACATAATTTGTGGTTGGGCAGAAATTCGGGCCAGTATGGGTTTGATTCCCAAGCCTGAACCTTCACCCTGTCAAGCCCCAGGGCCATTCCAGTGGTCACTCCTCCGGACCTGCTTCTGTCTCCAAACCCCTCTCCTTCAGGCCTCAGTTTCCCCACCTGTGGTTGGATCCAGTGATAATTATGGGGCCACCCACTACGGAGACTCTACCTTTGGAGCCAGCAGCCCCTGCCCAATGGGAACCTCTTGCTCAGCGTCTGCTGTCCCCGGGAAGAAACACAGCAAGAGGGCTCCTGGGCTCATCAGGAAAAAGGGGACATGGCCACAGGCGGTGGGATCTCCCTGGAGTCCCATTTGGCCCTGGGTAGCGGCTCCTACTCTCTGAGCCTCAGTTTCCTTGCCTGTCAAACAGGTTAGTCATGACTGGGCACCTCCTGGGGATACTGGGGGATGAAGAGGGGGTCCCTGGGTACAGACTGCACACTGTGCATTCAGCAGGTGCTCAGCACAGGCAGCTCTTCGCAGGTACCTGGAGTGGGAACATCTGGATGATGTTTTCTGGCTGAAACTGAAATGCCCCCAGGAACACCTCCTCCTTGGGGGAGCCCTCCATGCCCTGTGGAACCAGAACCAAGGTGAAGGCGTCAGATACAAGCAGGGCCCTCAGAGGGTGTCTCCCCTCTCCAGTGGAGACTTGCACACTCCCCAGGATGGGAGCTCACTACCTCTTTGGGCACCGTTTCACTGTGGCACAGTGTAATGAATAGGAAAGAGCACTGGCCTGGGAGTCAGAGCCTGGGGGTCTATGACTAGCTCTGCCATTGACTTGTAGGATTAGGGTGTTTCCCTGATCCTTCTCTGGACCTTATTTCACCGAGACAGTTCAGATAACGCTTCGGACCTTCTTAGCAAAATGGGGGCTCCATGGTCTCTGAAGATTATCTCGGCTCTGAAAAGCTTGGTTTAAAATAGAGTAGCTGTTTATCCCCTACCCTTGAAGGCTGAAATTGGACCCCAGCGCTGGCCACTTCCAGCCTTAACCAAGCTGCATTCAGCCCCTCCAGCCTGCAAGTGTTGTGCAGACACTGTTTACCCCAGGCCTGGAATATCACCATTGGAAGGTTGTCCCTTTAGCTAAGCATAGCTCCCTGCAGGGGAGTGCTCACATAGATGACGAAGTCCTTGGGGGCGGTGTCCAGGCTGCCTGACAATGAGATGGTCTTGGGGATGTGCTGCAGCATGAGGTTGGACAGGTAAACCTTCTGAGCCAATTGGATGGTCACCTGGCCGCGGTCACCCTCAAAGGCCCAGCAATTGCCAGGTGTCACGTTGGGCTAGAAGAGGCAAGTACAATAAGGGATATGCTGGGTGGGTAGGGGGATCATCCCACCTTTGATCCCCTGTACTTCCTGGGACCTCCTGGGTGAGCCAGTCCTTTCTTGTCTCCAAAGCTTGGCTCAAGTGCCACCCCCTCCAGGAAGCTCTCCTGACTACCCATGCAGGGGGTAAGCCTTACTTCAGTTCAATGCAGTAAGGGAGGGGCCTGCTTGGGACCTCCCAGCCTCCACCCGCTCCCCACTGGCACCCATTCATTCATTCATTTACTCACTCACTCATTCATTCATTCACTCATTCATCCCTCCCATTATTCTTTACATGGTCTTACAATCACCCCATGACTTAGGCATCATCACTATCCCCGTTTTGAAGGTGAGGAAACTGAGTTGGGGGAGCAGGACAATGACTGGTCCAGGGCCATGCAGAGCTGGAAGTGCAGCCCAGGGAATCTGACCTTGGAACTTGCCATTAAGCACCACGATCTCCTGCCCCACAGACGGGGAAACAGGCCCAGGGAGAGAAAGAGGTTTGATGGAAATCACCCAGGAAAGGCGATTACTCGGTCGGTTCTGAGCTTCTGGAGCCATGGCATGGACAGTCCTTATTTGAACAGTGGATGCTAGCCCAGGGGTGCAGGGGGCTGTGGGTGTCAGGGAAGGCCTCCTGAGGAGCTGGGGCCAGGGGAGATGAGGAGCCAGCTGGGAAAGGGAGCTAAGGGAACAGCACGGGAAAGGACCAGGGGCGAGCCAGGCTTGATGATGTGAGGACCTGGAGAGCTCAGTCAGGCTGGAGCTGGGAGAGGGCCCAGGAGGGGCAGAGTCTTGGCTGGGCTGCTTTTCACTACTGCTCCAAACCTGACTGCAGCCAGCGCTTTGCAACCCAGCCACTGCCCGCCGCGTCCCCCGCCCCAGCCTGGATGTGTGCACCACCCCCCACTCCCGGGCCCTGTGCTTGGCCTGTGCCCCTGCGTTCTATCTGCCTGCGGATCTGCTAGTCCTCGGCTGCGGCCACCAGGAAGCCCCTTGCCCCGTCCAAGCTGAGCAAGGCCAATGCCCCAGCTTGACCTCGAGTGCCAAGATCTTGGAGCTCCTTAAGGTAGAACCCACGGATGAGTGGCCTGTGACCTTTTGGCATCACCCAGGGTGTGCCACTGGGATGACACTCTCAGCCAGTGTTCACTGAATGAAGGCACCTGCTTTGTGACCAGGACAAGCCCTTTCCTTCTCTGGGCCTCATTTTCCTCATCTGTGAGGCAGGATCCTGGAGGGCTGAAGAGCTCAGGTTTGAACTCTGGCTCTGCTACATACTAGTGACCAGCTCTGTGGCCACAGTCAAGTGACCTGGCTCTTTGAGCCTCAGTTTCCTTTTCTGCAAAATGGGTCTATGATGGGCCCATGCCCAGTGTAGTCCTGAGGTTTCTCTGACCCTCAAATCTTAAGGGCTGAGTGGTGGGGTCCCTCCCAATGCCAAAGCAAGCTGTCCCTCTGTTTCGCTCCTACCCTAGCCCCAGCAGCCCCTGCTGTCTGTTCTCACCTCCTGCCCCCGCCTTCTCCCCAGCCCCCGCCTTGTCAGTAGCCCCCTCCTTCTGCTCCCTGCCTTTGCCCCTGCATCTGTCTCCTGCTCCTACCTCTAACCCCGCCCCTGCCCCCACTCCCTTTGCTCCCACCCCCTACCTCTTCTGCCAGCTCCTGTCCCCAAACCCTGCCCGGACCACTCCCCTGCCGCTGTCCCATCTCCCGCCATCCCCCCTGCCTCAAGGATCACGTCTGGGGGCTGTGCGTAGTTCCACAGCTGGATCCAGTTCCAGTAGGAGTGGGCCTTCTCATGGTTATAGGTGACTGACGTGTGCTCAAAGTCAATGCTGGCCCCTGTATAGGAGAAGGGGGTCTCAGCCAAGCAGCCGGGCTTCTGCCTGGTGGAGGGGACGCCACTGATGGGCCCTGACTATG |
Task1_train_27820 | Gene SUN5 (Sad1 and UNC84 domain containing 5) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Spermatogenic failure 16 | TTAGGGTAGGGGTTCTGGTGAGGCTGCTCTCTGGGCGGGGCCACAGAGCCATGCACTCGCACGCGGTACAGGCAAGTGAAGCCTGGGTTCCCCCAGTTGCTTGAGATCTTCACCTTGACCGCACTGAAAGCCCGGGCCGGCTGGTTCTGGAAGAGAATCAGTCACAGAGGCAGCTCACCCATAGACTCCCACCCTGCCTTTCCAAAGGTGGGGAGTGGAAGGGAAGTTTCCCATTTCATAGGTGGGAAAACTAAGGCCCAGACAGGAGGATGGACTGTCCCAAGGCCTCACAGCAAGTCGATATTCAGGAGCTCTTACTGAAGATGCTGAGGCCAGAAGGACAGACATGCTGTGGGTAAGGAAATGTCCTGGCCTTAATGCTGTGGGATCTTGGGCAAACCTCCACCCTTTCTGGGCCTCAGTCTCCCACTCCTGCCCTGCCCCGCCCGTAAGATGGGAATGGTAATATCTGCTTCCCAGGATTGCGGTGGGCATGAAATGAGATTTTGGGAACAGGCGGCCTCTAGAAGAGAATCATTCACAGAGGCAGCTCATCCACAGACTCCCGGCACATAGTAAGTTCTCTGTAAGTGAGGCCCCTCCCCGTTTTTGCCAAGCAAGAGGGGGTGGAGCCTGTGTTTATTACTCTCCCTATCTAGTGTAAAAAGTGGGGCGGGCTTGGCCTTCACTGAATGTTTTCAACCTCCCAGGGAATGACAGAAGGGGAAAACTGAGGCTCCAGAGAAGCAGGGCTTGGCCCAAGCTCACACATAATTTGTGGTTGGGCAGAAATTCGGGCCAGTATGGGTTTGATTCCCAAGCCTGAACCTTCACCCTGTCAAGCCCCAGGGCCATTCCAGTGGTCACTCCTCCGGACCTGCTTCTGTCTCCAAACCCCTCTCCTTCAGGCCTCAGTTTCCCCACCTGTGGTTGGATCCAGTGATAATTATGGGGCCACCCACTACGGAGACTCTACCTTTGGAGCCAGCAGCCCCTGCCCAATGGGAACCTCTTGCTCAGCGTCTGCTGTCCCCGGGAAGAAACACAGCAAGAGGGCTCCTGGGCTCATCAGGAAAAAGGGGACATGGCCACAGGCGGTGGGATCTCCCTGGAGTCCCATTTGGCCCTGGGTAGCGGCTCCTACTCTCTGAGCCTCAGTTTCCTTGCCTGTCAAACAGGTTAGTCATGACTGGGCACCTCCTGGGGATACTGGGGGATGAAGAGGGGGTCCCTGGGTACAGACTGCACACTGTGCATTCAGCAGGTGCTCAGCACAGGCAGCTCTTCGCAGGTACCTGGAGTGGGAACATCTGGATGATGTTTTCTGGCTGAAACTGAAATGCCCCCAGGAACACCTCCTCCTTGGGGGAGCCCTCCATGCCCTGTGGAACCAGAACCAAGGTGAAGGCGTCAGATACAAGCAGGGCCCTCAGAGGGTGTCTCCCCTCTCCAGTGGAGACTTGCACACTCCCCAGGATGGGAGCTCACTACCTCTTTGGGCACCGTTTCACTGTGGCACAGTGTAATGAATAGGAAAGAGCACTGGCCTGGGAGTCAGAGCCTGGGGGTCTATGACTAGCTCTGCCATTGACTTGTAGGATTAGGGTGTTTCCCTGATCCTTCTCTGGACCTTATTTCACCGAGACAGTTCAGATAACGCTTCGGACCTTCTTAGCAAAATGGGGGCTCCATGGTCTCTGAAGATTATCTCGGCTCTGAAAAGCTTGGTTTAAAATAGAGTAGCTGTTTATCCCCTACCCTTGAAGGCTGAAATTGGACCCCAGCGCTGGCCACTTCCAGCCTTAACCAAGCTGCATTCAGCCCCTCCAGCCTGCAAGTGTTGTGCAGACACTGTTTACCCCAGGCCTGGAATATCACCATTGGAAGGTTGTCCCTTTAGCTAAGCATAGCTCCCTGCAGGGGAGTGCTCACATAGATGACGAAGTCCTTGGGGGCGGTGTCCAGGCTGCCTGACAATGAGATGGTCTTGGGGATGTGCTGCAGCGTGAGGTTGGACAGGTAAACCTTCTGAGCCAATTGGATGGTCACCTGGCCGCGGTCACCCTCAAAGGCCCAGCAATTGCCAGGTGTCACGTTGGGCTAGAAGAGGCAAGTACAATAAGGGATATGCTGGGTGGGTAGGGGGATCATCCCACCTTTGATCCCCTGTACTTCCTGGGACCTCCTGGGTGAGCCAGTCCTTTCTTGTCTCCAAAGCTTGGCTCAAGTGCCACCCCCTCCAGGAAGCTCTCCTGACTACCCATGCAGGGGGTAAGCCTTACTTCAGTTCAATGCAGTAAGGGAGGGGCCTGCTTGGGACCTCCCAGCCTCCACCCGCTCCCCACTGGCACCCATTCATTCATTCATTTACTCACTCACTCATTCATTCATTCACTCATTCATCCCTCCCATTATTCTTTACATGGTCTTACAATCACCCCATGACTTAGGCATCATCACTATCCCCGTTTTGAAGGTGAGGAAACTGAGTTGGGGGAGCAGGACAATGACTGGTCCAGGGCCATGCAGAGCTGGAAGTGCAGCCCAGGGAATCTGACCTTGGAACTTGCCATTAAGCACCACGATCTCCTGCCCCACAGACGGGGAAACAGGCCCAGGGAGAGAAAGAGGTTTGATGGAAATCACCCAGGAAAGGCGATTACTCGGTCGGTTCTGAGCTTCTGGAGCCATGGCATGGACAGTCCTTATTTGAACAGTGGATGCTAGCCCAGGGGTGCAGGGGGCTGTGGGTGTCAGGGAAGGCCTCCTGAGGAGCTGGGGCCAGGGGAGATGAGGAGCCAGCTGGGAAAGGGAGCTAAGGGAACAGCACGGGAAAGGACCAGGGGCGAGCCAGGCTTGATGATGTGAGGACCTGGAGAGCTCAGTCAGGCTGGAGCTGGGAGAGGGCCCAGGAGGGGCAGAGTCTTGGCTGGGCTGCTTTTCACTACTGCTCCAAACCTGACTGCAGCCAGCGCTTTGCAACCCAGCCACTGCCCGCCGCGTCCCCCGCCCCAGCCTGGATGTGTGCACCACCCCCCACTCCCGGGCCCTGTGCTTGGCCTGTGCCCCTGCGTTCTATCTGCCTGCGGATCTGCTAGTCCTCGGCTGCGGCCACCAGGAAGCCCCTTGCCCCGTCCAAGCTGAGCAAGGCCAATGCCCCAGCTTGACCTCGAGTGCCAAGATCTTGGAGCTCCTTAAGGTAGAACCCACGGATGAGTGGCCTGTGACCTTTTGGCATCACCCAGGGTGTGCCACTGGGATGACACTCTCAGCCAGTGTTCACTGAATGAAGGCACCTGCTTTGTGACCAGGACAAGCCCTTTCCTTCTCTGGGCCTCATTTTCCTCATCTGTGAGGCAGGATCCTGGAGGGCTGAAGAGCTCAGGTTTGAACTCTGGCTCTGCTACATACTAGTGACCAGCTCTGTGGCCACAGTCAAGTGACCTGGCTCTTTGAGCCTCAGTTTCCTTTTCTGCAAAATGGGTCTATGATGGGCCCATGCCCAGTGTAGTCCTGAGGTTTCTCTGACCCTCAAATCTTAAGGGCTGAGTGGTGGGGTCCCTCCCAATGCCAAAGCAAGCTGTCCCTCTGTTTCGCTCCTACCCTAGCCCCAGCAGCCCCTGCTGTCTGTTCTCACCTCCTGCCCCCGCCTTCTCCCCAGCCCCCGCCTTGTCAGTAGCCCCCTCCTTCTGCTCCCTGCCTTTGCCCCTGCATCTGTCTCCTGCTCCTACCTCTAACCCCGCCCCTGCCCCCACTCCCTTTGCTCCCACCCCCTACCTCTTCTGCCAGCTCCTGTCCCCAAACCCTGCCCGGACCACTCCCCTGCCGCTGTCCCATCTCCCGCCATCCCCCCTGCCTCAAGGATCACGTCTGGGGGCTGTGCGTAGTTCCACAGCTGGATCCAGTTCCAGTAGGAGTGGGCCTTCTCATGGTTATAGGTGACTGACGTGTGCTCAAAGTCAATGCTGGCCCCTGTATAGGAGAAGGGGGTCTCAGCCAAGCAGCCGGGCTTCTGCCTGGTGGAGGGGACGCCACTGATGGGCCCTGACTATGTGCCGGGCGAGCATTTTGGATGAGTCACTGGCCCTGTTCTCCT | TTAGGGTAGGGGTTCTGGTGAGGCTGCTCTCTGGGCGGGGCCACAGAGCCATGCACTCGCACGCGGTACAGGCAAGTGAAGCCTGGGTTCCCCCAGTTGCTTGAGATCTTCACCTTGACCGCACTGAAAGCCCGGGCCGGCTGGTTCTGGAAGAGAATCAGTCACAGAGGCAGCTCACCCATAGACTCCCACCCTGCCTTTCCAAAGGTGGGGAGTGGAAGGGAAGTTTCCCATTTCATAGGTGGGAAAACTAAGGCCCAGACAGGAGGATGGACTGTCCCAAGGCCTCACAGCAAGTCGATATTCAGGAGCTCTTACTGAAGATGCTGAGGCCAGAAGGACAGACATGCTGTGGGTAAGGAAATGTCCTGGCCTTAATGCTGTGGGATCTTGGGCAAACCTCCACCCTTTCTGGGCCTCAGTCTCCCACTCCTGCCCTGCCCCGCCCGTAAGATGGGAATGGTAATATCTGCTTCCCAGGATTGCGGTGGGCATGAAATGAGATTTTGGGAACAGGCGGCCTCTAGAAGAGAATCATTCACAGAGGCAGCTCATCCACAGACTCCCGGCACATAGTAAGTTCTCTGTAAGTGAGGCCCCTCCCCGTTTTTGCCAAGCAAGAGGGGGTGGAGCCTGTGTTTATTACTCTCCCTATCTAGTGTAAAAAGTGGGGCGGGCTTGGCCTTCACTGAATGTTTTCAACCTCCCAGGGAATGACAGAAGGGGAAAACTGAGGCTCCAGAGAAGCAGGGCTTGGCCCAAGCTCACACATAATTTGTGGTTGGGCAGAAATTCGGGCCAGTATGGGTTTGATTCCCAAGCCTGAACCTTCACCCTGTCAAGCCCCAGGGCCATTCCAGTGGTCACTCCTCCGGACCTGCTTCTGTCTCCAAACCCCTCTCCTTCAGGCCTCAGTTTCCCCACCTGTGGTTGGATCCAGTGATAATTATGGGGCCACCCACTACGGAGACTCTACCTTTGGAGCCAGCAGCCCCTGCCCAATGGGAACCTCTTGCTCAGCGTCTGCTGTCCCCGGGAAGAAACACAGCAAGAGGGCTCCTGGGCTCATCAGGAAAAAGGGGACATGGCCACAGGCGGTGGGATCTCCCTGGAGTCCCATTTGGCCCTGGGTAGCGGCTCCTACTCTCTGAGCCTCAGTTTCCTTGCCTGTCAAACAGGTTAGTCATGACTGGGCACCTCCTGGGGATACTGGGGGATGAAGAGGGGGTCCCTGGGTACAGACTGCACACTGTGCATTCAGCAGGTGCTCAGCACAGGCAGCTCTTCGCAGGTACCTGGAGTGGGAACATCTGGATGATGTTTTCTGGCTGAAACTGAAATGCCCCCAGGAACACCTCCTCCTTGGGGGAGCCCTCCATGCCCTGTGGAACCAGAACCAAGGTGAAGGCGTCAGATACAAGCAGGGCCCTCAGAGGGTGTCTCCCCTCTCCAGTGGAGACTTGCACACTCCCCAGGATGGGAGCTCACTACCTCTTTGGGCACCGTTTCACTGTGGCACAGTGTAATGAATAGGAAAGAGCACTGGCCTGGGAGTCAGAGCCTGGGGGTCTATGACTAGCTCTGCCATTGACTTGTAGGATTAGGGTGTTTCCCTGATCCTTCTCTGGACCTTATTTCACCGAGACAGTTCAGATAACGCTTCGGACCTTCTTAGCAAAATGGGGGCTCCATGGTCTCTGAAGATTATCTCGGCTCTGAAAAGCTTGGTTTAAAATAGAGTAGCTGTTTATCCCCTACCCTTGAAGGCTGAAATTGGACCCCAGCGCTGGCCACTTCCAGCCTTAACCAAGCTGCATTCAGCCCCTCCAGCCTGCAAGTGTTGTGCAGACACTGTTTACCCCAGGCCTGGAATATCACCATTGGAAGGTTGTCCCTTTAGCTAAGCATAGCTCCCTGCAGGGGAGTGCTCACATAGATGACGAAGTCCTTGGGGGCGGTGTCCAGGCTGCCTGACAATGAGATGGTCTTGGGGATGTGCTGCAGCGTGAGGTTGGACAGGTAAACCTTCTGAGCCAATTGGATGGTCATCTGGCCGCGGTCACCCTCAAAGGCCCAGCAATTGCCAGGTGTCACGTTGGGCTAGAAGAGGCAAGTACAATAAGGGATATGCTGGGTGGGTAGGGGGATCATCCCACCTTTGATCCCCTGTACTTCCTGGGACCTCCTGGGTGAGCCAGTCCTTTCTTGTCTCCAAAGCTTGGCTCAAGTGCCACCCCCTCCAGGAAGCTCTCCTGACTACCCATGCAGGGGGTAAGCCTTACTTCAGTTCAATGCAGTAAGGGAGGGGCCTGCTTGGGACCTCCCAGCCTCCACCCGCTCCCCACTGGCACCCATTCATTCATTCATTTACTCACTCACTCATTCATTCATTCACTCATTCATCCCTCCCATTATTCTTTACATGGTCTTACAATCACCCCATGACTTAGGCATCATCACTATCCCCGTTTTGAAGGTGAGGAAACTGAGTTGGGGGAGCAGGACAATGACTGGTCCAGGGCCATGCAGAGCTGGAAGTGCAGCCCAGGGAATCTGACCTTGGAACTTGCCATTAAGCACCACGATCTCCTGCCCCACAGACGGGGAAACAGGCCCAGGGAGAGAAAGAGGTTTGATGGAAATCACCCAGGAAAGGCGATTACTCGGTCGGTTCTGAGCTTCTGGAGCCATGGCATGGACAGTCCTTATTTGAACAGTGGATGCTAGCCCAGGGGTGCAGGGGGCTGTGGGTGTCAGGGAAGGCCTCCTGAGGAGCTGGGGCCAGGGGAGATGAGGAGCCAGCTGGGAAAGGGAGCTAAGGGAACAGCACGGGAAAGGACCAGGGGCGAGCCAGGCTTGATGATGTGAGGACCTGGAGAGCTCAGTCAGGCTGGAGCTGGGAGAGGGCCCAGGAGGGGCAGAGTCTTGGCTGGGCTGCTTTTCACTACTGCTCCAAACCTGACTGCAGCCAGCGCTTTGCAACCCAGCCACTGCCCGCCGCGTCCCCCGCCCCAGCCTGGATGTGTGCACCACCCCCCACTCCCGGGCCCTGTGCTTGGCCTGTGCCCCTGCGTTCTATCTGCCTGCGGATCTGCTAGTCCTCGGCTGCGGCCACCAGGAAGCCCCTTGCCCCGTCCAAGCTGAGCAAGGCCAATGCCCCAGCTTGACCTCGAGTGCCAAGATCTTGGAGCTCCTTAAGGTAGAACCCACGGATGAGTGGCCTGTGACCTTTTGGCATCACCCAGGGTGTGCCACTGGGATGACACTCTCAGCCAGTGTTCACTGAATGAAGGCACCTGCTTTGTGACCAGGACAAGCCCTTTCCTTCTCTGGGCCTCATTTTCCTCATCTGTGAGGCAGGATCCTGGAGGGCTGAAGAGCTCAGGTTTGAACTCTGGCTCTGCTACATACTAGTGACCAGCTCTGTGGCCACAGTCAAGTGACCTGGCTCTTTGAGCCTCAGTTTCCTTTTCTGCAAAATGGGTCTATGATGGGCCCATGCCCAGTGTAGTCCTGAGGTTTCTCTGACCCTCAAATCTTAAGGGCTGAGTGGTGGGGTCCCTCCCAATGCCAAAGCAAGCTGTCCCTCTGTTTCGCTCCTACCCTAGCCCCAGCAGCCCCTGCTGTCTGTTCTCACCTCCTGCCCCCGCCTTCTCCCCAGCCCCCGCCTTGTCAGTAGCCCCCTCCTTCTGCTCCCTGCCTTTGCCCCTGCATCTGTCTCCTGCTCCTACCTCTAACCCCGCCCCTGCCCCCACTCCCTTTGCTCCCACCCCCTACCTCTTCTGCCAGCTCCTGTCCCCAAACCCTGCCCGGACCACTCCCCTGCCGCTGTCCCATCTCCCGCCATCCCCCCTGCCTCAAGGATCACGTCTGGGGGCTGTGCGTAGTTCCACAGCTGGATCCAGTTCCAGTAGGAGTGGGCCTTCTCATGGTTATAGGTGACTGACGTGTGCTCAAAGTCAATGCTGGCCCCTGTATAGGAGAAGGGGGTCTCAGCCAAGCAGCCGGGCTTCTGCCTGGTGGAGGGGACGCCACTGATGGGCCCTGACTATGTGCCGGGCGAGCATTTTGGATGAGTCACTGGCCCTGTTCTCCT |
Task1_train_27821 | Given this variant in gene SUN5 (Sad1 and UNC84 domain containing 5) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 16 | TTCACAGTGCTTAGGAAACGAAGTCCCTTTGAGGGAGGGCACCGCAAAACACAACAAGCAAGAGATCAAGGCCTTAGAACAGTGATTCTCTCTGGTATATGTCAGAACCACCTGGAAGGCTTGCTGGAACACAGATGATTGGTTTGCATCTTCAGAGCCTCTGATTCAGAAGGTCTGAGTGAGGCCTATTAATTCGAATTGTTAACATTTTCCCAGGTGATACTGATGATGCAGGCACGTGGGCCGTGGGCCGTACTTTGAGATCCATTACCCTAGAAGGGGTGGTGATGAGTCAATACTGTGCTTCAGCTGCACTTCACCTGGGGGCACTAAATCAATCCTGGGCACAATTAGAACCCAGGAATCCAAGTTTGCTCCTGGCGGAGAAGGCTGCCACCAGGCCCAGAGATTTTTGCGTTCATGCAGGGGTGAGAGACACATTTGGAGACTTGTGAGGCCTCAAACATACAGTAAGTCTGCCACTAAGACAGTTGTCAAATTTTTGAAGCTGCATGGGAAGGAGTCTAAAGAGTTAAGCTTAAAACCTCTGGATAAATTTTTTTAAAATTGTGATCCAGGTCTGTCTGAACTAGCTTAGTGCATGTCTAGATAGAAGTGACCAGTCTATTTCATCCTCCTTATAAAGAAAAGGGGAACTTTCTCTAGTGGAATTATAATTATTTGGAACAGCTACAGTTCTTTTGTATACAATGTTGAGAAACCACTAAAAGTTACTAGACTTGAAGAGGCAAGACCATATCATTGATACCCAAGATAAAAAGCAGAAAACAGAGGGAGGCCACAGATGATCCAGACATTGGAGTTAGCAGACAAGGATTTTTAAAATAACTGTTGCTAATGTGTTAATTAAAATAAAGGAAAAGATGGACAACATAGGTGAAATGTTGGGGAATTTCACCACAGAATTAAAGTCTGTGAAAAAAATCAAATGTATATCCTAGAACTAAACAATGCAGTATCTGAAATTAAGAACTAAGGCTGGATGCAGTGGCTCACGTCTGTAATCTTAGCACTTTAGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCAAGTCGACATGGTGAAACCCTGTCTCCACTAAAAATATAAAAATTAGCTGAGCGTGGTAATGTGCACCTGCAATCCCAGCTACTCAGGTGTAGGATGCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGCCTGGGCGACAGAGGGAGACTCCATTAAAAAAACAAAAAGAACTAAATGCATGGATTTAATAATAAATTGGAGAGACAGAATGATGCAAGATTATTAGTAAACCTGAAGAAAGGTTAATAGGAAAATATCAAAACATAAGCACATAACAGAAAAAGAATGAAAAAACAAACCAGGTAATAGCGTAGGAATCACATAAAGCACTCTAAAGGCTTTCAAAGCATAGGCCTAGCATAGGTGTAATTAGAATCCAAGGAAAGGAGACAGATAATGGAAAGAAGAAATATTTTAAGAGATAAAAGGTAAAAGTTTCCCAAAACTATTGAAAAATATCAACCCACAGATTTAATAAGCTCGGCAAACCACAAACCAGGTTATATGAGGAACATTAGAGACAAAAAGATTTTTCTACAAGCTCCCAGGGATAAAAAATAGATCATACTCAAAGGATCAATAATAAGAGTGCCATTAGACTTCTCATTAGCAACAGTATAAACTATAATAGAGTGGTGGGCTTCCTTCAACATTCTCAGGAGAAACTATTTCATATTTAGAATTCTGTACCCAGCCAAACTATCAACCAAGTACAAGGATAGAAAAAGATGCTTTTAAACATACAAGCACTAAAAATATACTTCTTTCACTGTATTCCTGAAAGTCACTGGGGGATGTGCTCCCTCAAAATGAGAGATAAAACCAAGAAAGAACACTTGAGGTATAGGAAACAGGACATCAAACAAAGAGAAATTAGATGTTTGGGGCAGAATGGCCAGCGTCTCACCTCATCGGACATGGCTTCCATCTCCTGGAGCTTGGCAATGAGCTGGTTCATGCTACCTCGGAGGTCCTGGATTTCCCCACTGTGATGTCGCACCTTCTCCTGGTACAACCTTATCAGGAAGGAGTGATAACAAGAACAGGTTGATTTGTGATGCGTTGTTGTTACCCTCAGATTTTCCCTTTGCTAGTTGGCTCTCAAAGAATGAGTTTCAGATTTTCCTAATCTCTTGGGCCCATCCCTGGACCCATTCATCAGGTTATTATCTCTAAAACATTACTCATTCTCTTCTTTCTGCTTGGAATATCTTTATACCCAGCTCATTCCTTCCAAATATTCCTGAGTATTTTGTCTGCAATTAAGGATGCTGCCATCAGGTGGTGTCTTGGTTAAAATTTCTTCTCAGCTACCATTTGCTGAGCACTGACTATGGGTCAGGAGCTATTCAAGACACTTTGCATCTTCTTTAGCACCCATAATTGCCAAGAGCAAGATGGGTGTTATGCTTCATCTCATAAATGAGGAGTCAAAGGCCCAGAGAGAATAGGTGACTTGCCTAAGGTCAGCCATGTAGAAGGCATGGGAGTTAGGATTTAAACCCAGGTTGATCTGACTGCAGAGCCTATATTTGTAGCCAATACACCCCAGATTCTGGCTATAGCTCTGCTTTTTAGGTAATAATATGGTTACCCAGAAGATTCCTCTTACCTCAAGCTCTGCAGTGGACCATTTATGCTGTCATCCTGGTGGAGTATTGAGAAAGTAAGGGGTCTCCTTCAGATGGCTTAATCTGGCCCCAGGAGAACTTCATCCATCTATTCTCCCACAATTATAAACCCATACATTCATCCACTTTCCTGTTGACTCTTCCACCCGTCTACCCACCTATCATTTCTCCAAACTCTAATTTACTGCCCTTTTTATTCATCCTTCCAGACTTTTATCCATCCATCCACACCTTCATCCATCCACCCTTATACCCACCCACCCTCCCTTATCCATCTGTTCTTCCAACTCCCCAACTTCCCCCATCTATTTACACTCCAATCCATATACCCTAACCCATCTACCCACTCTTTCATTCATCCATCTATCCACCAACCCACCCACCCACTCATCTATCCCATCTGCTCTTGCATCCACCCATCATTTCATCCACCCATTCACCTATTCATGTATTCACCTAGCCTCCTATCTCTTTCCCCTAGTCCTACATCCATCAAATCCAACCTTCCATCTGTCCATCCTCCCATCCATTCTCTCTCCATGCACACTCCCATCTGGCCATCCAGTCATCCAACATGGATAGTGGCAACCCTGTTGCTGGCACCAAACTAAACATTGCTGGGGTGAATAGGACCTGGCTCCTTCCTTCAAGAAGCTGCCAGTACAGTTGGAGAGACAGTCATGACCACAGAAAATTATCGGAGGAAAGAGGAATGTGACAACTTCTGCCTGGGTGTTTCTAGAGGAGGTGATATTTTAGCCGGACCTTGATGGACCTTGATGGATATGAAGGGGTTCATAAGGAGGAAAAGAGGAGAGGGAGGGACAGGCCTTTCAGATTCCCTTTCTGAGGTCCTCTGAGACTTTTTGCAGACCTCATGTAGGGAGTTTCGCTACTTATTTCCTCCTCCTTCCTCCTCAGAAACCTGAAAGCAAATGAGTATCATTGCTGTTAAGCAGAAGGACAAGCTGCCTTAAGTACAGAAATGTGTTCCCTGTTATCACCACCCCACTTTAAGTGGGGCCTTGAGAAAGGAGAGATGGGTCATCTCTGAGAGTCAATACAGGAGAGCCATCTTGGAGGAGGGACTATTGCATCCAATCTTTGAAAGTCACCTCTGGCAGAGAGATGGGTTCTAGGTGGATGGTACGATGAAGGGTGAGATTTGGATCTGGGTCAAGTCAGGAACTGATGAGGGGCCCCATTTGGTGAGAATGAATGGAGCTGTGGAGGTGATATTGACTGGTTAGGGTGAGACCTGTCAGCTGTGGGGCCTGAGGAGGGTGCACACTCACCTGCCAGACTTTCATTTTCGATGGTAAGTGAATAGAAAACATCCAGAATCCTGTGAGGCCATGAGAATAAGAATGAGC | TTCACAGTGCTTAGGAAACGAAGTCCCTTTGAGGGAGGGCACCGCAAAACACAACAAGCAAGAGATCAAGGCCTTAGAACAGTGATTCTCTCTGGTATATGTCAGAACCACCTGGAAGGCTTGCTGGAACACAGATGATTGGTTTGCATCTTCAGAGCCTCTGATTCAGAAGGTCTGAGTGAGGCCTATTAATTCGAATTGTTAACATTTTCCCAGGTGATACTGATGATGCAGGCACGTGGGCCGTGGGCCGTACTTTGAGATCCATTACCCTAGAAGGGGTGGTGATGAGTCAATACTGTGCTTCAGCTGCACTTCACCTGGGGGCACTAAATCAATCCTGGGCACAATTAGAACCCAGGAATCCAAGTTTGCTCCTGGCGGAGAAGGCTGCCACCAGGCCCAGAGATTTTTGCGTTCATGCAGGGGTGAGAGACACATTTGGAGACTTGTGAGGCCTCAAACATACAGTAAGTCTGCCACTAAGACAGTTGTCAAATTTTTGAAGCTGCATGGGAAGGAGTCTAAAGAGTTAAGCTTAAAACCTCTGGATAAATTTTTTTAAAATTGTGATCCAGGTCTGTCTGAACTAGCTTAGTGCATGTCTAGATAGAAGTGACCAGTCTATTTCATCCTCCTTATAAAGAAAAGGGGAACTTTCTCTAGTGGAATTATAATTATTTGGAACAGCTACAGTTCTTTTGTATACAATGTTGAGAAACCACTAAAAGTTACTAGACTTGAAGAGGCAAGACCATATCATTGATACCCAAGATAAAAAGCAGAAAACAGAGGGAGGCCACAGATGATCCAGACATTGGAGTTAGCAGACAAGGATTTTTAAAATAACTGTTGCTAATGTGTTAATTAAAATAAAGGAAAAGATGGACAACATAGGTGAAATGTTGGGGAATTTCACCACAGAATTAAAGTCTGTGAAAAAAATCAAATGTATATCCTAGAACTAAACAATGCAGTATCTGAAATTAAGAACTAAGGCTGGATGCAGTGGCTCACGTCTGTAATCTTAGCACTTTAGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCAAGTCGACATGGTGAAACCCTGTCTCCACTAAAAATATAAAAATTAGCTGAGCGTGGTAATGTGCACCTGCAATCCCAGCTACTCAGGTGTAGGATGCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGCCTGGGCGACAGAGGGAGACTCCATTAAAAAAACAAAAAGAACTAAATGCATGGATTTAATAATAAATTGGAGAGACAGAATGATGCAAGATTATTAGTAAACCTGAAGAAAGGTTAATAGGAAAATATCAAAACATAAGCACATAACAGAAAAAGAATGAAAAAACAAACCAGGTAATAGCGTAGGAATCACATAAAGCACTCTAAAGGCTTTCAAAGCATAGGCCTAGCATAGGTGTAATTAGAATCCAAGGAAAGGAGACAGATAATGGAAAGAAGAAATATTTTAAGAGATAAAAGGTAAAAGTTTCCCAAAACTATTGAAAAATATCAACCCACAGATTTAATAAGCTCGGCAAACCACAAACCAGGTTATATGAGGAACATTAGAGACAAAAAGATTTTTCTACAAGCTCCCAGGGATAAAAAATAGATCATACTCAAAGGATCAATAATAAGAGTGCCATTAGACTTCTCATTAGCAACAGTATAAACTATAATAGAGTGGTGGGCTTCCTTCAACATTCTCAGGAGAAACTATTTCATATTTAGAATTCTGTACCCAGCCAAACTATCAACCAAGTACAAGGATAGAAAAAGATGCTTTTAAACATACAAGCACTAAAAATATACTTCTTTCACTGTATTCCTGAAAGTCACTGGGGGATGTGCTCCCTCAAAATGAGAGATAAAACCAAGAAAGAACACTTGAGGTATAGGAAACAGGACATCAAACAAAGAGAAATTAGATGTTTGGGGCAGAATGGCCAGCGTCTCACCTCATCGGACATGGCTTCCATCTCCTGGAGCTTGGCAATGAGCTGGTTCTTGCTACCTCGGAGGTCCTGGATTTCCCCACTGTGATGTCGCACCTTCTCCTGGTACAACCTTATCAGGAAGGAGTGATAACAAGAACAGGTTGATTTGTGATGCGTTGTTGTTACCCTCAGATTTTCCCTTTGCTAGTTGGCTCTCAAAGAATGAGTTTCAGATTTTCCTAATCTCTTGGGCCCATCCCTGGACCCATTCATCAGGTTATTATCTCTAAAACATTACTCATTCTCTTCTTTCTGCTTGGAATATCTTTATACCCAGCTCATTCCTTCCAAATATTCCTGAGTATTTTGTCTGCAATTAAGGATGCTGCCATCAGGTGGTGTCTTGGTTAAAATTTCTTCTCAGCTACCATTTGCTGAGCACTGACTATGGGTCAGGAGCTATTCAAGACACTTTGCATCTTCTTTAGCACCCATAATTGCCAAGAGCAAGATGGGTGTTATGCTTCATCTCATAAATGAGGAGTCAAAGGCCCAGAGAGAATAGGTGACTTGCCTAAGGTCAGCCATGTAGAAGGCATGGGAGTTAGGATTTAAACCCAGGTTGATCTGACTGCAGAGCCTATATTTGTAGCCAATACACCCCAGATTCTGGCTATAGCTCTGCTTTTTAGGTAATAATATGGTTACCCAGAAGATTCCTCTTACCTCAAGCTCTGCAGTGGACCATTTATGCTGTCATCCTGGTGGAGTATTGAGAAAGTAAGGGGTCTCCTTCAGATGGCTTAATCTGGCCCCAGGAGAACTTCATCCATCTATTCTCCCACAATTATAAACCCATACATTCATCCACTTTCCTGTTGACTCTTCCACCCGTCTACCCACCTATCATTTCTCCAAACTCTAATTTACTGCCCTTTTTATTCATCCTTCCAGACTTTTATCCATCCATCCACACCTTCATCCATCCACCCTTATACCCACCCACCCTCCCTTATCCATCTGTTCTTCCAACTCCCCAACTTCCCCCATCTATTTACACTCCAATCCATATACCCTAACCCATCTACCCACTCTTTCATTCATCCATCTATCCACCAACCCACCCACCCACTCATCTATCCCATCTGCTCTTGCATCCACCCATCATTTCATCCACCCATTCACCTATTCATGTATTCACCTAGCCTCCTATCTCTTTCCCCTAGTCCTACATCCATCAAATCCAACCTTCCATCTGTCCATCCTCCCATCCATTCTCTCTCCATGCACACTCCCATCTGGCCATCCAGTCATCCAACATGGATAGTGGCAACCCTGTTGCTGGCACCAAACTAAACATTGCTGGGGTGAATAGGACCTGGCTCCTTCCTTCAAGAAGCTGCCAGTACAGTTGGAGAGACAGTCATGACCACAGAAAATTATCGGAGGAAAGAGGAATGTGACAACTTCTGCCTGGGTGTTTCTAGAGGAGGTGATATTTTAGCCGGACCTTGATGGACCTTGATGGATATGAAGGGGTTCATAAGGAGGAAAAGAGGAGAGGGAGGGACAGGCCTTTCAGATTCCCTTTCTGAGGTCCTCTGAGACTTTTTGCAGACCTCATGTAGGGAGTTTCGCTACTTATTTCCTCCTCCTTCCTCCTCAGAAACCTGAAAGCAAATGAGTATCATTGCTGTTAAGCAGAAGGACAAGCTGCCTTAAGTACAGAAATGTGTTCCCTGTTATCACCACCCCACTTTAAGTGGGGCCTTGAGAAAGGAGAGATGGGTCATCTCTGAGAGTCAATACAGGAGAGCCATCTTGGAGGAGGGACTATTGCATCCAATCTTTGAAAGTCACCTCTGGCAGAGAGATGGGTTCTAGGTGGATGGTACGATGAAGGGTGAGATTTGGATCTGGGTCAAGTCAGGAACTGATGAGGGGCCCCATTTGGTGAGAATGAATGGAGCTGTGGAGGTGATATTGACTGGTTAGGGTGAGACCTGTCAGCTGTGGGGCCTGAGGAGGGTGCACACTCACCTGCCAGACTTTCATTTTCGATGGTAAGTGAATAGAAAACATCCAGAATCCTGTGAGGCCATGAGAATAAGAATGAGC |
Task1_train_27822 | A mutation in CHMP4B (charged multivesicular body protein 4B), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cataract 31 multiple types | CTGTGAATGTGAAGGTGGGGAAGCTGTGTCCCAGAGAGGGAAGCGGATTTGCCCTGTGTGACATGGGAGCTTGGTTAGAACTGGGATTAGAATCGGTGCCCATGATTTTTCCCTGATGCTGTCAGGGGCCCTGAAATGTGTGGTTCATCCAAGAGCTTTGGATCTCTCTGTTCCTATGTCTGCTTTTGATGGCGTTTTCTGCCTCCTCTCTTGCTCTCCGGCTGTAGCTGTCATTGACAGTGATCTTGCCCTCAGCAGTCCTTCTTCCCCTATATGGCTACCTCTCATGGCAGTGGCCTAAGAAACTAGATAACCAAGCTTGTTACAGTTGTAACTAAAGGCCAAGGTAAGGAGGCTCCAAATGAAGGCCTCTCTCTTGAATACAATCTGCATTTGGGCTGGGTGAGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTCGTGGCATGCGCCTGTAATCCCAGCTACTGGCGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAAGTGGAAGTTGCAGTGAGCCAAAATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAATAAAAAAATAAAAAATAAAAAATAAAAAATCTGCATTTGTTGTAGTGCTTAGATTTGGCAGCATATATTTGGGGGTGCTAGGTGCCTTTTTTGCTTCCTTTTGGGTACTCAGCTGTGCTGTCCAATGGGTGGGAAAATGCACCCTATGGGCTTGCCATCTGTTTTTGTAAATAAAGTTTTATTATTATTTGAGACAAGGTCTTGCTGTGTCTGTCACCTGGGCTGGAATGCTGTGGCCCAATCCTAGCTCACTGCACTCTCAAAATCCTGGGCTCAAGCCATCCTCTCACTTCAGCCTCCTGAGTAGCTCAGACTACAGGTGTGTGACATTATGCCTGGCTAATTTTTAAAATTTTCTGCAGGGATGGGGTCTCACTGTGTTGCCCAGACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCTCCTGGGCCTCTCAAAGTTTTGGGATTACAGGTGTGAGTCACTGTGCCTAGCCTTAAAAGTTTTATTGAAATACAGTCATGCCCCTTAATTTACATATTGTCTGTGGCAGCTTTTGTGCTACGCAGCAGGGTTAAGTATTTGCAACAGAGACTGTCTGGCCATAAATTCTAAAGTGTTTACTGTCTGGCCCTTTGCAGAAAAAGCTTGCTGATGTTGCTCTAGAAATGTGAGGTTGCAGGAGAAGTAGCCTTCAAATAAGTGAGGTTTTGTCTGAGGGTGGATGTTCATTGGACCGAGCTGCTTGAATGAGAACCATATATGCCTCATTTCTGTGTTCTCCTGGAAACCTAGCAGAGTGCAGCTCATTAAATACTGTGCAAATGTTGACGTATATGTGTGTATGTTGGCTTGAGTAAATATAGGTTTATATGATTGTCAGTGTGTAGAAGAAAATTCTGCATATTTGCGGAATTTGCCTTTCCTTTGGGGTCCTAGAGGATCCATAGGTGGACTGAGTAGATGGAAGGCCCATTAGACAGCATGGCTGTCTTCTGTGATTTGTGCTTTTACTTCCCCCTGTACAGAGTTACCCTTGGACTTGAAAAAGAGCTATTGGCCCAGGAGTTAAAGCCCTGCGGTCTTAATGTGATACCTTTACTAATTTGTATGTAGGACCTTGATAGTGCCACCTGTAGGGTGTTGGACTGGGTAGTGTCTTAAAGACATTCCCGTCCCCTTGAGTCTATGATTCTCTATTTTAAAGGGGAGGAGGCAATAATGCCAAGTAACCCCTCACAGGGAGTCATTGCAGGGGGTGTGGCTGGGAAGCTGATTTTGTGGGGCCCAGTTTCTGCTCCCGCCTTGCCTTGCAGGCCCCCTTTACGCAGCCTAATCGATTGATATGATACCTGTCCATTGCATTTGAAGGGACATCGATAAAGTTGATGAGTTAATGCAGGACATTGCTGACCAGCAAGAACTTGCAGAGGAGATTTCAACAGCAATTTCGAAACCTGTAGGGTTTGGAGAAGAGTTTGACGAGGTGAGTAGTTTTGTACAGATCCCATAAGCTTCACAAATGATACCCTGAGGCTGTCCCTTGATGTGCTCTTGAAGGCTCTCAGGCAGGGAGCATTTGGACTTGGACAGAGACAGGGCATGGTGTTAACCCTCCCTGAATTCTGCATTTTGAGGGACACTTTCTCTATTTGGGGTGGAAGCTTAGGTAGAGTAAAGGCACATTCATCAGGACCCTTCAGCAGGCTTCAGGTCACTAACTGATTTGAACAAGTAGCTAGCCTGCACCTTTCCAGGGTGGGCCCTGGCACAGAGCTGGGCAGCAGAGATGACCATGCCCTGGAGAAGTTCACAGGATTTTCCCTGAGACAGCTTCAGCATGAGGGAAAGGTAGAGCAAAGAGGGGGCACTTACCCCTGACCCGGGGTATCTGTCTAGATCTCGGCCATCTGCCAGTTTCTGCTGTAGCAATTTGGGACCTTGAGTCTCTTAGGTTTTTAAAGTATGGTACCAGCCCCTGTTGAAGGTATTTCACTGTGTGCTAGATTTGTGTCTCCTGAAGGTTAGGTCCTTTCTGCTGGACCTTTGTGCTTTCTGACCCCTGCTGTATAACCGAGAAAACAGCGTGCAGCTCTTACCTTTGGCTCTCAACACCAGGGTTTTCATGTTTTCACACTGGAGTTCGATGGATGAATCGAGTTCATTTCAAATCAGCAAACATTTCTGAGCATTCACTCGTGTGCCCAGCTCTGAGCCAAATAAATAGGAAGGCAAAGATATGATCCCCTCTCCCAGATGCTCACAGTCTAGTGCAGGACACCAGAGGTCTACATCAGTGATGTGCAGCAGTGATACGTTCCCCAGTAGAAGCTGCTTTAGGATATTTGAATCACAGGGTCTGGAACCTGGAATTCACCTCCCCGCAGACCTTCTCAGAGGGGTGTGTGTCTCCATGAGCATTAATTAGGTAGGAGGCATGACCGCGGGGGCTGGGATTCCCAGGGAGGGCGCTCACTTTGTGTTTCCTTTTACTAGGATGAGCTCATGGCGGAATTAGAAGAACTAGAACAGGAGGAACTAGACAAGAATTTGCTGGAAATCAGTGGACCCGAAACAGTCCCTCTACCAAATGTTCCCTCTATAGCCCTACCATCAAAACCCGGTGAGTGCTTCTAGAGTCATGGCACACCGTGAGGTCATGTGGCAGGTGATCTTGTGGTCGGTTGGCTTTGGTTTGTGGTCGGTTGGCTTTGGTTTGTGGTCGGTTGGCTTTGGTCTGTGTCCTGAGCTTGCCCAAGATTGAGAACCAGACAGGATCCATTGTAGTGGCCACAGAGGCCATGTCACCTGGCTTTTTCTGGTTTCTCTCTGGAACAGTGTTTCTTAATCTTGACGCTGTGGACATGGCCAGATACCTCTCTGGGCCGAGAGATGGAGGGTGGGGGCGGGGTTGTCCGGTGCACTGTGGATGTTCAGCACCATCCCTGGCCTCTGCTAGATGCCAGTAGCAACCGCCATGAGTTATGTCAACCAAAAATGTCTTCAGACATGGCCAAATGTCCCTTGGTAGGGGTTGGGAGGATCACCCCCAGTTGAGAGCCTCTTTTCTAGAATGATTTTCCTATTTCACTAAAGAAGAGAAAGTTCCAGGCACTGTGAGAAGGTGTGAGAGCGTGAGTCCAGGACAGCTCTTTCCCTGCCCCTCTAGTATCCTGTGCTGCGCACCCTGCAAAAGCCCCGGCCCCTAGAGACAGCCCCTGGGGGAAGGAAACAGCTTTGACTCCTTTAGAGACCTGATTCTATAAAACCTTCATTTCCTCCCTTCATTTCTTCCCTTCCCCCATCCCCTCGCACAATATTTCACCCCCAGGTAGAAGTAATCCACACAGAACTTCTAGAAAAAGCGAGGCAATTTGATGTGGCATGAGAGAGAACCCTGGGGGCAGTGCATGACCAGCTGTGGTCACCTCCCTCT | CTGTGAATGTGAAGGTGGGGAAGCTGTGTCCCAGAGAGGGAAGCGGATTTGCCCTGTGTGACATGGGAGCTTGGTTAGAACTGGGATTAGAATCGGTGCCCATGATTTTTCCCTGATGCTGTCAGGGGCCCTGAAATGTGTGGTTCATCCAAGAGCTTTGGATCTCTCTGTTCCTATGTCTGCTTTTGATGGCGTTTTCTGCCTCCTCTCTTGCTCTCCGGCTGTAGCTGTCATTGACAGTGATCTTGCCCTCAGCAGTCCTTCTTCCCCTATATGGCTACCTCTCATGGCAGTGGCCTAAGAAACTAGATAACCAAGCTTGTTACAGTTGTAACTAAAGGCCAAGGTAAGGAGGCTCCAAATGAAGGCCTCTCTCTTGAATACAATCTGCATTTGGGCTGGGTGAGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTCGTGGCATGCGCCTGTAATCCCAGCTACTGGCGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAAGTGGAAGTTGCAGTGAGCCAAAATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAATAAAAAAATAAAAAATAAAAAATAAAAAATCTGCATTTGTTGTAGTGCTTAGATTTGGCAGCATATATTTGGGGGTGCTAGGTGCCTTTTTTGCTTCCTTTTGGGTACTCAGCTGTGCTGTCCAATGGGTGGGAAAATGCACCCTATGGGCTTGCCATCTGTTTTTGTAAATAAAGTTTTATTATTATTTGAGACAAGGTCTTGCTGTGTCTGTCACCTGGGCTGGAATGCTGTGGCCCAATCCTAGCTCACTGCACTCTCAAAATCCTGGGCTCAAGCCATCCTCTCACTTCAGCCTCCTGAGTAGCTCAGACTACAGGTGTGTGACATTATGCCTGGCTAATTTTTAAAATTTTCTGCAGGGATGGGGTCTCACTGTGTTGCCCAGACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCTCCTGGGCCTCTCAAAGTTTTGGGATTACAGGTGTGAGTCACTGTGCCTAGCCTTAAAAGTTTTATTGAAATACAGTCATGCCCCTTAATTTACATATTGTCTGTGGCAGCTTTTGTGCTACGCAGCAGGGTTAAGTATTTGCAACAGAGACTGTCTGGCCATAAATTCTAAAGTGTTTACTGTCTGGCCCTTTGCAGAAAAAGCTTGCTGATGTTGCTCTAGAAATGTGAGGTTGCAGGAGAAGTAGCCTTCAAATAAGTGAGGTTTTGTCTGAGGGTGGATGTTCATTGGACCGAGCTGCTTGAATGAGAACCATATATGCCTCATTTCTGTGTTCTCCTGGAAACCTAGCAGAGTGCAGCTCATTAAATACTGTGCAAATGTTGACGTATATGTGTGTATGTTGGCTTGAGTAAATATAGGTTTATATGATTGTCAGTGTGTAGAAGAAAATTCTGCATATTTGCGGAATTTGCCTTTCCTTTGGGGTCCTAGAGGATCCATAGGTGGACTGAGTAGATGGAAGGCCCATTAGACAGCATGGCTGTCTTCTGTGATTTGTGCTTTTACTTCCCCCTGTACAGAGTTACCCTTGGACTTGAAAAAGAGCTATTGGCCCAGGAGTTAAAGCCCTGCGGTCTTAATGTGATACCTTTACTAATTTGTATGTAGGACCTTGATAGTGCCACCTGTAGGGTGTTGGACTGGGTAGTGTCTTAAAGACATTCCCGTCCCCTTGAGTCTATGATTCTCTATTTTAAAGGGGAGGAGGCAATAATGCCAAGTAACCCCTCACAGGGAGTCATTGCAGGGGGTGTGGCTGGGAAGCTGATTTTGTGGGGCCCAGTTTCTGCTCCCGCCTTGCCTTGCAGGCCCCCTTTACGCAGCCTAATCGATTGATATGATACCTGTCCATTGCATTTGAAGGGACATCGATAAAGTTGTTGAGTTAATGCAGGACATTGCTGACCAGCAAGAACTTGCAGAGGAGATTTCAACAGCAATTTCGAAACCTGTAGGGTTTGGAGAAGAGTTTGACGAGGTGAGTAGTTTTGTACAGATCCCATAAGCTTCACAAATGATACCCTGAGGCTGTCCCTTGATGTGCTCTTGAAGGCTCTCAGGCAGGGAGCATTTGGACTTGGACAGAGACAGGGCATGGTGTTAACCCTCCCTGAATTCTGCATTTTGAGGGACACTTTCTCTATTTGGGGTGGAAGCTTAGGTAGAGTAAAGGCACATTCATCAGGACCCTTCAGCAGGCTTCAGGTCACTAACTGATTTGAACAAGTAGCTAGCCTGCACCTTTCCAGGGTGGGCCCTGGCACAGAGCTGGGCAGCAGAGATGACCATGCCCTGGAGAAGTTCACAGGATTTTCCCTGAGACAGCTTCAGCATGAGGGAAAGGTAGAGCAAAGAGGGGGCACTTACCCCTGACCCGGGGTATCTGTCTAGATCTCGGCCATCTGCCAGTTTCTGCTGTAGCAATTTGGGACCTTGAGTCTCTTAGGTTTTTAAAGTATGGTACCAGCCCCTGTTGAAGGTATTTCACTGTGTGCTAGATTTGTGTCTCCTGAAGGTTAGGTCCTTTCTGCTGGACCTTTGTGCTTTCTGACCCCTGCTGTATAACCGAGAAAACAGCGTGCAGCTCTTACCTTTGGCTCTCAACACCAGGGTTTTCATGTTTTCACACTGGAGTTCGATGGATGAATCGAGTTCATTTCAAATCAGCAAACATTTCTGAGCATTCACTCGTGTGCCCAGCTCTGAGCCAAATAAATAGGAAGGCAAAGATATGATCCCCTCTCCCAGATGCTCACAGTCTAGTGCAGGACACCAGAGGTCTACATCAGTGATGTGCAGCAGTGATACGTTCCCCAGTAGAAGCTGCTTTAGGATATTTGAATCACAGGGTCTGGAACCTGGAATTCACCTCCCCGCAGACCTTCTCAGAGGGGTGTGTGTCTCCATGAGCATTAATTAGGTAGGAGGCATGACCGCGGGGGCTGGGATTCCCAGGGAGGGCGCTCACTTTGTGTTTCCTTTTACTAGGATGAGCTCATGGCGGAATTAGAAGAACTAGAACAGGAGGAACTAGACAAGAATTTGCTGGAAATCAGTGGACCCGAAACAGTCCCTCTACCAAATGTTCCCTCTATAGCCCTACCATCAAAACCCGGTGAGTGCTTCTAGAGTCATGGCACACCGTGAGGTCATGTGGCAGGTGATCTTGTGGTCGGTTGGCTTTGGTTTGTGGTCGGTTGGCTTTGGTTTGTGGTCGGTTGGCTTTGGTCTGTGTCCTGAGCTTGCCCAAGATTGAGAACCAGACAGGATCCATTGTAGTGGCCACAGAGGCCATGTCACCTGGCTTTTTCTGGTTTCTCTCTGGAACAGTGTTTCTTAATCTTGACGCTGTGGACATGGCCAGATACCTCTCTGGGCCGAGAGATGGAGGGTGGGGGCGGGGTTGTCCGGTGCACTGTGGATGTTCAGCACCATCCCTGGCCTCTGCTAGATGCCAGTAGCAACCGCCATGAGTTATGTCAACCAAAAATGTCTTCAGACATGGCCAAATGTCCCTTGGTAGGGGTTGGGAGGATCACCCCCAGTTGAGAGCCTCTTTTCTAGAATGATTTTCCTATTTCACTAAAGAAGAGAAAGTTCCAGGCACTGTGAGAAGGTGTGAGAGCGTGAGTCCAGGACAGCTCTTTCCCTGCCCCTCTAGTATCCTGTGCTGCGCACCCTGCAAAAGCCCCGGCCCCTAGAGACAGCCCCTGGGGGAAGGAAACAGCTTTGACTCCTTTAGAGACCTGATTCTATAAAACCTTCATTTCCTCCCTTCATTTCTTCCCTTCCCCCATCCCCTCGCACAATATTTCACCCCCAGGTAGAAGTAATCCACACAGAACTTCTAGAAAAAGCGAGGCAATTTGATGTGGCATGAGAGAGAACCCTGGGGGCAGTGCATGACCAGCTGTGGTCACCTCCCTCT |
Task1_train_27823 | Here is a variant affecting CHMP4B (charged multivesicular body protein 4B) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cataract 31 multiple types | GTGCCCATGATTTTTCCCTGATGCTGTCAGGGGCCCTGAAATGTGTGGTTCATCCAAGAGCTTTGGATCTCTCTGTTCCTATGTCTGCTTTTGATGGCGTTTTCTGCCTCCTCTCTTGCTCTCCGGCTGTAGCTGTCATTGACAGTGATCTTGCCCTCAGCAGTCCTTCTTCCCCTATATGGCTACCTCTCATGGCAGTGGCCTAAGAAACTAGATAACCAAGCTTGTTACAGTTGTAACTAAAGGCCAAGGTAAGGAGGCTCCAAATGAAGGCCTCTCTCTTGAATACAATCTGCATTTGGGCTGGGTGAGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTCGTGGCATGCGCCTGTAATCCCAGCTACTGGCGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAAGTGGAAGTTGCAGTGAGCCAAAATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAATAAAAAAATAAAAAATAAAAAATAAAAAATCTGCATTTGTTGTAGTGCTTAGATTTGGCAGCATATATTTGGGGGTGCTAGGTGCCTTTTTTGCTTCCTTTTGGGTACTCAGCTGTGCTGTCCAATGGGTGGGAAAATGCACCCTATGGGCTTGCCATCTGTTTTTGTAAATAAAGTTTTATTATTATTTGAGACAAGGTCTTGCTGTGTCTGTCACCTGGGCTGGAATGCTGTGGCCCAATCCTAGCTCACTGCACTCTCAAAATCCTGGGCTCAAGCCATCCTCTCACTTCAGCCTCCTGAGTAGCTCAGACTACAGGTGTGTGACATTATGCCTGGCTAATTTTTAAAATTTTCTGCAGGGATGGGGTCTCACTGTGTTGCCCAGACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCTCCTGGGCCTCTCAAAGTTTTGGGATTACAGGTGTGAGTCACTGTGCCTAGCCTTAAAAGTTTTATTGAAATACAGTCATGCCCCTTAATTTACATATTGTCTGTGGCAGCTTTTGTGCTACGCAGCAGGGTTAAGTATTTGCAACAGAGACTGTCTGGCCATAAATTCTAAAGTGTTTACTGTCTGGCCCTTTGCAGAAAAAGCTTGCTGATGTTGCTCTAGAAATGTGAGGTTGCAGGAGAAGTAGCCTTCAAATAAGTGAGGTTTTGTCTGAGGGTGGATGTTCATTGGACCGAGCTGCTTGAATGAGAACCATATATGCCTCATTTCTGTGTTCTCCTGGAAACCTAGCAGAGTGCAGCTCATTAAATACTGTGCAAATGTTGACGTATATGTGTGTATGTTGGCTTGAGTAAATATAGGTTTATATGATTGTCAGTGTGTAGAAGAAAATTCTGCATATTTGCGGAATTTGCCTTTCCTTTGGGGTCCTAGAGGATCCATAGGTGGACTGAGTAGATGGAAGGCCCATTAGACAGCATGGCTGTCTTCTGTGATTTGTGCTTTTACTTCCCCCTGTACAGAGTTACCCTTGGACTTGAAAAAGAGCTATTGGCCCAGGAGTTAAAGCCCTGCGGTCTTAATGTGATACCTTTACTAATTTGTATGTAGGACCTTGATAGTGCCACCTGTAGGGTGTTGGACTGGGTAGTGTCTTAAAGACATTCCCGTCCCCTTGAGTCTATGATTCTCTATTTTAAAGGGGAGGAGGCAATAATGCCAAGTAACCCCTCACAGGGAGTCATTGCAGGGGGTGTGGCTGGGAAGCTGATTTTGTGGGGCCCAGTTTCTGCTCCCGCCTTGCCTTGCAGGCCCCCTTTACGCAGCCTAATCGATTGATATGATACCTGTCCATTGCATTTGAAGGGACATCGATAAAGTTGATGAGTTAATGCAGGACATTGCTGACCAGCAAGAACTTGCAGAGGAGATTTCAACAGCAATTTCGAAACCTGTAGGGTTTGGAGAAGAGTTTGACGAGGTGAGTAGTTTTGTACAGATCCCATAAGCTTCACAAATGATACCCTGAGGCTGTCCCTTGATGTGCTCTTGAAGGCTCTCAGGCAGGGAGCATTTGGACTTGGACAGAGACAGGGCATGGTGTTAACCCTCCCTGAATTCTGCATTTTGAGGGACACTTTCTCTATTTGGGGTGGAAGCTTAGGTAGAGTAAAGGCACATTCATCAGGACCCTTCAGCAGGCTTCAGGTCACTAACTGATTTGAACAAGTAGCTAGCCTGCACCTTTCCAGGGTGGGCCCTGGCACAGAGCTGGGCAGCAGAGATGACCATGCCCTGGAGAAGTTCACAGGATTTTCCCTGAGACAGCTTCAGCATGAGGGAAAGGTAGAGCAAAGAGGGGGCACTTACCCCTGACCCGGGGTATCTGTCTAGATCTCGGCCATCTGCCAGTTTCTGCTGTAGCAATTTGGGACCTTGAGTCTCTTAGGTTTTTAAAGTATGGTACCAGCCCCTGTTGAAGGTATTTCACTGTGTGCTAGATTTGTGTCTCCTGAAGGTTAGGTCCTTTCTGCTGGACCTTTGTGCTTTCTGACCCCTGCTGTATAACCGAGAAAACAGCGTGCAGCTCTTACCTTTGGCTCTCAACACCAGGGTTTTCATGTTTTCACACTGGAGTTCGATGGATGAATCGAGTTCATTTCAAATCAGCAAACATTTCTGAGCATTCACTCGTGTGCCCAGCTCTGAGCCAAATAAATAGGAAGGCAAAGATATGATCCCCTCTCCCAGATGCTCACAGTCTAGTGCAGGACACCAGAGGTCTACATCAGTGATGTGCAGCAGTGATACGTTCCCCAGTAGAAGCTGCTTTAGGATATTTGAATCACAGGGTCTGGAACCTGGAATTCACCTCCCCGCAGACCTTCTCAGAGGGGTGTGTGTCTCCATGAGCATTAATTAGGTAGGAGGCATGACCGCGGGGGCTGGGATTCCCAGGGAGGGCGCTCACTTTGTGTTTCCTTTTACTAGGATGAGCTCATGGCGGAATTAGAAGAACTAGAACAGGAGGAACTAGACAAGAATTTGCTGGAAATCAGTGGACCCGAAACAGTCCCTCTACCAAATGTTCCCTCTATAGCCCTACCATCAAAACCCGGTGAGTGCTTCTAGAGTCATGGCACACCGTGAGGTCATGTGGCAGGTGATCTTGTGGTCGGTTGGCTTTGGTTTGTGGTCGGTTGGCTTTGGTTTGTGGTCGGTTGGCTTTGGTCTGTGTCCTGAGCTTGCCCAAGATTGAGAACCAGACAGGATCCATTGTAGTGGCCACAGAGGCCATGTCACCTGGCTTTTTCTGGTTTCTCTCTGGAACAGTGTTTCTTAATCTTGACGCTGTGGACATGGCCAGATACCTCTCTGGGCCGAGAGATGGAGGGTGGGGGCGGGGTTGTCCGGTGCACTGTGGATGTTCAGCACCATCCCTGGCCTCTGCTAGATGCCAGTAGCAACCGCCATGAGTTATGTCAACCAAAAATGTCTTCAGACATGGCCAAATGTCCCTTGGTAGGGGTTGGGAGGATCACCCCCAGTTGAGAGCCTCTTTTCTAGAATGATTTTCCTATTTCACTAAAGAAGAGAAAGTTCCAGGCACTGTGAGAAGGTGTGAGAGCGTGAGTCCAGGACAGCTCTTTCCCTGCCCCTCTAGTATCCTGTGCTGCGCACCCTGCAAAAGCCCCGGCCCCTAGAGACAGCCCCTGGGGGAAGGAAACAGCTTTGACTCCTTTAGAGACCTGATTCTATAAAACCTTCATTTCCTCCCTTCATTTCTTCCCTTCCCCCATCCCCTCGCACAATATTTCACCCCCAGGTAGAAGTAATCCACACAGAACTTCTAGAAAAAGCGAGGCAATTTGATGTGGCATGAGAGAGAACCCTGGGGGCAGTGCATGACCAGCTGTGGTCACCTCCCTCTCCCATGTATAAAGAGGGAACGGCCTCCTCAAGTAGAGTCAGCTGCCTAGAGTCCTGTGTAGGCAGAGGCCGTCCAGCAAGCCTCCTGGAGCTGTG | GTGCCCATGATTTTTCCCTGATGCTGTCAGGGGCCCTGAAATGTGTGGTTCATCCAAGAGCTTTGGATCTCTCTGTTCCTATGTCTGCTTTTGATGGCGTTTTCTGCCTCCTCTCTTGCTCTCCGGCTGTAGCTGTCATTGACAGTGATCTTGCCCTCAGCAGTCCTTCTTCCCCTATATGGCTACCTCTCATGGCAGTGGCCTAAGAAACTAGATAACCAAGCTTGTTACAGTTGTAACTAAAGGCCAAGGTAAGGAGGCTCCAAATGAAGGCCTCTCTCTTGAATACAATCTGCATTTGGGCTGGGTGAGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTCGTGGCATGCGCCTGTAATCCCAGCTACTGGCGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAAGTGGAAGTTGCAGTGAGCCAAAATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAATAAAAAAATAAAAAATAAAAAATAAAAAATCTGCATTTGTTGTAGTGCTTAGATTTGGCAGCATATATTTGGGGGTGCTAGGTGCCTTTTTTGCTTCCTTTTGGGTACTCAGCTGTGCTGTCCAATGGGTGGGAAAATGCACCCTATGGGCTTGCCATCTGTTTTTGTAAATAAAGTTTTATTATTATTTGAGACAAGGTCTTGCTGTGTCTGTCACCTGGGCTGGAATGCTGTGGCCCAATCCTAGCTCACTGCACTCTCAAAATCCTGGGCTCAAGCCATCCTCTCACTTCAGCCTCCTGAGTAGCTCAGACTACAGGTGTGTGACATTATGCCTGGCTAATTTTTAAAATTTTCTGCAGGGATGGGGTCTCACTGTGTTGCCCAGACTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCTCCTGGGCCTCTCAAAGTTTTGGGATTACAGGTGTGAGTCACTGTGCCTAGCCTTAAAAGTTTTATTGAAATACAGTCATGCCCCTTAATTTACATATTGTCTGTGGCAGCTTTTGTGCTACGCAGCAGGGTTAAGTATTTGCAACAGAGACTGTCTGGCCATAAATTCTAAAGTGTTTACTGTCTGGCCCTTTGCAGAAAAAGCTTGCTGATGTTGCTCTAGAAATGTGAGGTTGCAGGAGAAGTAGCCTTCAAATAAGTGAGGTTTTGTCTGAGGGTGGATGTTCATTGGACCGAGCTGCTTGAATGAGAACCATATATGCCTCATTTCTGTGTTCTCCTGGAAACCTAGCAGAGTGCAGCTCATTAAATACTGTGCAAATGTTGACGTATATGTGTGTATGTTGGCTTGAGTAAATATAGGTTTATATGATTGTCAGTGTGTAGAAGAAAATTCTGCATATTTGCGGAATTTGCCTTTCCTTTGGGGTCCTAGAGGATCCATAGGTGGACTGAGTAGATGGAAGGCCCATTAGACAGCATGGCTGTCTTCTGTGATTTGTGCTTTTACTTCCCCCTGTACAGAGTTACCCTTGGACTTGAAAAAGAGCTATTGGCCCAGGAGTTAAAGCCCTGCGGTCTTAATGTGATACCTTTACTAATTTGTATGTAGGACCTTGATAGTGCCACCTGTAGGGTGTTGGACTGGGTAGTGTCTTAAAGACATTCCCGTCCCCTTGAGTCTATGATTCTCTATTTTAAAGGGGAGGAGGCAATAATGCCAAGTAACCCCTCACAGGGAGTCATTGCAGGGGGTGTGGCTGGGAAGCTGATTTTGTGGGGCCCAGTTTCTGCTCCCGCCTTGCCTTGCAGGCCCCCTTTACGCAGCCTAATCGATTGATATGATACCTGTCCATTGCATTTGAAGGGACATCGATAAAGTTGATGAGTTAATGCAGGACATTGCTGACCAGCAAGAACTTGCAGAGGAGATTTCAACAGCAATTTCGAAACCTGTAGGGTTTGGAGAAGAGTTTGACAAGGTGAGTAGTTTTGTACAGATCCCATAAGCTTCACAAATGATACCCTGAGGCTGTCCCTTGATGTGCTCTTGAAGGCTCTCAGGCAGGGAGCATTTGGACTTGGACAGAGACAGGGCATGGTGTTAACCCTCCCTGAATTCTGCATTTTGAGGGACACTTTCTCTATTTGGGGTGGAAGCTTAGGTAGAGTAAAGGCACATTCATCAGGACCCTTCAGCAGGCTTCAGGTCACTAACTGATTTGAACAAGTAGCTAGCCTGCACCTTTCCAGGGTGGGCCCTGGCACAGAGCTGGGCAGCAGAGATGACCATGCCCTGGAGAAGTTCACAGGATTTTCCCTGAGACAGCTTCAGCATGAGGGAAAGGTAGAGCAAAGAGGGGGCACTTACCCCTGACCCGGGGTATCTGTCTAGATCTCGGCCATCTGCCAGTTTCTGCTGTAGCAATTTGGGACCTTGAGTCTCTTAGGTTTTTAAAGTATGGTACCAGCCCCTGTTGAAGGTATTTCACTGTGTGCTAGATTTGTGTCTCCTGAAGGTTAGGTCCTTTCTGCTGGACCTTTGTGCTTTCTGACCCCTGCTGTATAACCGAGAAAACAGCGTGCAGCTCTTACCTTTGGCTCTCAACACCAGGGTTTTCATGTTTTCACACTGGAGTTCGATGGATGAATCGAGTTCATTTCAAATCAGCAAACATTTCTGAGCATTCACTCGTGTGCCCAGCTCTGAGCCAAATAAATAGGAAGGCAAAGATATGATCCCCTCTCCCAGATGCTCACAGTCTAGTGCAGGACACCAGAGGTCTACATCAGTGATGTGCAGCAGTGATACGTTCCCCAGTAGAAGCTGCTTTAGGATATTTGAATCACAGGGTCTGGAACCTGGAATTCACCTCCCCGCAGACCTTCTCAGAGGGGTGTGTGTCTCCATGAGCATTAATTAGGTAGGAGGCATGACCGCGGGGGCTGGGATTCCCAGGGAGGGCGCTCACTTTGTGTTTCCTTTTACTAGGATGAGCTCATGGCGGAATTAGAAGAACTAGAACAGGAGGAACTAGACAAGAATTTGCTGGAAATCAGTGGACCCGAAACAGTCCCTCTACCAAATGTTCCCTCTATAGCCCTACCATCAAAACCCGGTGAGTGCTTCTAGAGTCATGGCACACCGTGAGGTCATGTGGCAGGTGATCTTGTGGTCGGTTGGCTTTGGTTTGTGGTCGGTTGGCTTTGGTTTGTGGTCGGTTGGCTTTGGTCTGTGTCCTGAGCTTGCCCAAGATTGAGAACCAGACAGGATCCATTGTAGTGGCCACAGAGGCCATGTCACCTGGCTTTTTCTGGTTTCTCTCTGGAACAGTGTTTCTTAATCTTGACGCTGTGGACATGGCCAGATACCTCTCTGGGCCGAGAGATGGAGGGTGGGGGCGGGGTTGTCCGGTGCACTGTGGATGTTCAGCACCATCCCTGGCCTCTGCTAGATGCCAGTAGCAACCGCCATGAGTTATGTCAACCAAAAATGTCTTCAGACATGGCCAAATGTCCCTTGGTAGGGGTTGGGAGGATCACCCCCAGTTGAGAGCCTCTTTTCTAGAATGATTTTCCTATTTCACTAAAGAAGAGAAAGTTCCAGGCACTGTGAGAAGGTGTGAGAGCGTGAGTCCAGGACAGCTCTTTCCCTGCCCCTCTAGTATCCTGTGCTGCGCACCCTGCAAAAGCCCCGGCCCCTAGAGACAGCCCCTGGGGGAAGGAAACAGCTTTGACTCCTTTAGAGACCTGATTCTATAAAACCTTCATTTCCTCCCTTCATTTCTTCCCTTCCCCCATCCCCTCGCACAATATTTCACCCCCAGGTAGAAGTAATCCACACAGAACTTCTAGAAAAAGCGAGGCAATTTGATGTGGCATGAGAGAGAACCCTGGGGGCAGTGCATGACCAGCTGTGGTCACCTCCCTCTCCCATGTATAAAGAGGGAACGGCCTCCTCAAGTAGAGTCAGCTGCCTAGAGTCCTGTGTAGGCAGAGGCCGTCCAGCAAGCCTCCTGGAGCTGTG |
Task1_train_27824 | Consider a variant on Chromosome 20 in gene PIGU (phosphatidylinositol glycan anchor biosynthesis class U). Determine its clinical classification and disease relevance. | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 21 | TTGGTCTCTCAAAGAGCTGGGATCACATGCATGAGCCACCACACTCAGCCCATTCCATATTCTTCTATTTTGTTTGACTTCTTTCCCCCAGCAATAATGAATTCATGTATTACTTGATGATTTAAAATACATTTTAAAAAGAGATTAAGAAAAAAAAAGGTAAGAGATCATGCCAAGAGTCCAGCTGGTTTCTCTCAGCTATGAACACACTTGATCCACCTGCCTTTGGTTTCCATCCCTAACCCCAATCCCTCTTTCCAATAATTCAGTTTCTCCTGCCTTCAATGGCACCTGACCACTTGCAGACAACCCCCTGTGCTGCTTTAGAGTCCCTTCTCTCAGAAAGGCAGCCACAGAGAAGAAAGCTGTTATCTGGCAAGTTCCATGGATGCTTCATAATCACTGCAACTGTATTTCCAGACCCAAACTTAAGACTAAGACTCATGACAAGACAACAGGCTGTGGACTATTTCTGTGGAGCTTGCCAACCTCCCTAGAGGCCCAGGGCAGGCCCAATGCCCACCCATGCCAGCTACCACTGGAAGGTAAGGAAAAGGAAGGAGATCCCAGAAAGGCAGGAGAGCCAGGGCAACCTTCTGGATTCCTTCAGGATATGCAATTGAGCCCTGCAGAATTCTGCCTGCGTGGGTCAGAAGTAAGAGAGGCTGCGCATCCACCAACCCTAACTACAGTGTGAGAGACAGAACAGGCCCTCCGGCTGGGCCCCACCCAGGCTACAAGGCCCTCTATCTCTCTTTCTTCTGCTCACAAACCAAGACAACTGGCTGGGCTGAACATTAATCCTCCAGAAATGTCCATGCAGGAAACACCAGTCCCATCACTCACTGAAAAAGCCCTAACTCCTTTCTTTTCCCGCAGCTAACCTTGGAGGCAAGAATTACCCTGGGGATTATTCACTGGCATCATTAGTCTTTCCAGCCAGCCTGCTTCCCATCCAGGCTATTACACATAGGAAATGCCTGGCTGTGCCAATGGCAATTGAAATGGTAAATGGTACAAGTGATTCTCAAAAGACTTCCACTACGAGGCCAGAGCCTGACCTGAGAGAAGGCAGCACGTGGAGGAGGGAACTTCCAAGAAGCGTGGGTGAGTCCACCTAGAGTTTGCTAGACCCACTGCCACAGAACCTCTGGAAGAGCTTATTAAAAATATAAATTCCTGACCCTGTATTCCACATTGAATCAACATTTCTGGGAGTGGGATCAGAGAACCTGGCTTTTTAAAACAGAGCCATGTACTTGGGACGGCTGCAACATAATTGCAGAGTTTAAAGCCTGTTAACAGGGAATCTGCATTTTTAACAAGCTCCCTCTGAGGATTTTGATTGAGAATCCTGCTCTGTGGAACAGAGGGACAGGCTTCCCAGCTCAGGGGAAGGCTGAGCTCCTTGCTGGTACTCCTCAGCCTGTGACCACAGCCTCCTCTCCACCGCTCCCAGCCACACAATTTATGCTCAACTCCCCAACAGCCAGACCGGCCCCCTTCTCCTCTGCCTGCCTTTGTTCCTGCTGTCCCGAGAGTCCGCAGAGCCTCTCCTCCCCTTGCCTTGCCCTCTCCCCCTCACTCTATCTACTCCCTATGGGTGCTGGAACCACAGGCACCATTACAGAAAGGGGTGCCTCAGAAATCAAGCCTTATGTGAATTTTGTTCTTGGCTCCTCCAATGACCTTCGAGAAGAGAGGACCTCTGCAAGCCTCTGTCCCTCATTTGTAAAGTAGGGCTAACATGCCCTGTCTCCTAGGCTTGCTGAGAATACAGCATGGCTATGGTTCAGTGTGGTGCCCAATACATATCTGCCAGGTTCAGCCTTACACTGCTCTTACTTCCCCGTCCTCACTGACTGGGAGCTACTTGAGGGGAGTAACTGTGCCTCCTTCACGTCTGCACCCCCCGGTATGCAGAATCCAAGGCCATCGTTGAATGCTTGAGGCTGCAAAATGAATTCCTGTCCCCAAGCTGACCCCCATGCTGTCCCTCTTACCTGCCCAACGTTGAAGGTCAGTGTGATGGCATAAAAGAAATTAGAGTTGGCACTTCCTGCATAAATCCAGAGGTGCCACAGGACAGGGAAGAGCAGGGAACAGACGATGATGATGCAGGTGAGGACAAAGATGTTTCTCAGGACTGCAAAGACAGAGGGTTACAGTTAGCCTGACACGCTCTCTCTGGCATGCTTTCCCTGCTGCAATGGCCCCCCTGAATGGAGAGGCCCAAGGTGAGCATCATGTAGCTCAAAGGCAGAGCACCCCCAGAGGTACTGGGGTGCCAAGAAGCAAACCCCAGACTCCTCAGTCAATGGCTCCCCATGCCCACAGCTGGTGGTAGCTCCTGGATTTCGATTATTTCCTCCCACTGTGGGCTTGGCTGGCTGAAGACCAGCTATAGTTAGAAATGCCATGAGTGCCTCGGGGCACCAAACAGGGCATTTCAGGAAGATATTCCCCTCACCTCCTAATCTTGGAGGGTCCAAGAGTATCCCTCTCCCCAAGCAGGGTGCCATCTGGCCATGTGGGATTATGGGTGGGAACCCCAGCATGAACCGTGACGATTAGAGCCCCACTGTGGGTCTCCATGGTGCCACAGTCCTGGGTCTTAGGAACACGTTTTCCATTCTCCTTAACTGGTGTCTTAGGACCCCTGCCTCGCTCTTCAAACATTCCCAACTCTCCCTTAGATGATAAAGGACCTCTTTTTGACACCGTCTCTCACTCCTTGCCTCTAAGGGAATGCCGAATCCCACCAGGAAGAAAGCTCTCCCTGAGGTCTCAGGAAGGACCTGCTACTCAAGGGTGATCCAGAGGCAGACAGGCTGGCTGGCTTCAGCCAAACAGGAGTGTAGCATGGCAGCCGGGTACAGACCTTGGTTAAAATCCTGCTCTGCATTTATTAGCAAGTTTCTCTAGACCTCAGCTTCCTCATCTGTAAACTGAGGCTACACACCTAGTATGTACTTATAAAAATTAAAAATTAGGGTGGGCATGGTGGATCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGAAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGAGCCCATCTCTAAAAAAATTTTAAAATTTAAAAATAAAAAATGTTTAAAAATAAAAATAAAATGGGGCTAAAATGCACACTTCATTTGGTAAACAAGATGACATGTGAAAAAATGACACAGATATATCACTGGCTACATTAGTTTTCCATTGCTACTATAGCAAATTCCCACAAACTTAGTGATTTAAATAATATTCTTTATTATTAAACAGTTCTGGAGGTCAGAAGTTCCAAAATGGGTCTCACAGGCTAAAATCTCTAGAGGAGAACCCCTTGCTTGCCTTTTCCAGCACCCAGAGGCCCCCTGCATTCCTTGGTTCATGACCCCCTTCCAGCTGCAAATCCAGCAATGGTGGATTGAGGCCTTCTCACATTGCATCACTCAGACCTTCTCTTCTGCCTCCCTCTTCCATCTTTTTTTTAAAATAGACTATTTATTTTGAGATGGAATCTCACTACATTGCCCAAGCTGGAGTGGAGTGGCTGGATCATATCTCACTGAAGCCTCGAATTCCTGGGCTCCAGGGATCCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCATGCACAAAGAAGCCCAGTGGACTTTATTTTTTAGGGAAGTTTTAGTTTCACAGCAAAATTGGGCAGAAGATTTCCCATATTCCCCCCACCTCCACCTCTTCCACTTTGAGGGACACTTGTGATTACACTGGGGCCACCTGGATTGTCCAGGATAATCTCCCCTCCCAAGGTCTTAAAGTCCCTTTGCCATGTAAGGCGATGTCTTCACAGGTTCTGGGGATTACAACGTGGACATCTTTGTGAGGGGAGGGCTACTACCCTGCCTACCACACTGTACTTTTTCCCCCGTTTTAACTCTCTAGGGGTTATCACACAGGAGGATTGTCTGTTACTTTTCTTTATCTTTATCATATTTTTAAAAACTAATAAATATCATTTAAAATAATTAAAAGAATACCTTTTTAAAAAGAACTTAGCACTGTGCCTGGT | TTGGTCTCTCAAAGAGCTGGGATCACATGCATGAGCCACCACACTCAGCCCATTCCATATTCTTCTATTTTGTTTGACTTCTTTCCCCCAGCAATAATGAATTCATGTATTACTTGATGATTTAAAATACATTTTAAAAAGAGATTAAGAAAAAAAAAGGTAAGAGATCATGCCAAGAGTCCAGCTGGTTTCTCTCAGCTATGAACACACTTGATCCACCTGCCTTTGGTTTCCATCCCTAACCCCAATCCCTCTTTCCAATAATTCAGTTTCTCCTGCCTTCAATGGCACCTGACCACTTGCAGACAACCCCCTGTGCTGCTTTAGAGTCCCTTCTCTCAGAAAGGCAGCCACAGAGAAGAAAGCTGTTATCTGGCAAGTTCCATGGATGCTTCATAATCACTGCAACTGTATTTCCAGACCCAAACTTAAGACTAAGACTCATGACAAGACAACAGGCTGTGGACTATTTCTGTGGAGCTTGCCAACCTCCCTAGAGGCCCAGGGCAGGCCCAATGCCCACCCATGCCAGCTACCACTGGAAGGTAAGGAAAAGGAAGGAGATCCCAGAAAGGCAGGAGAGCCAGGGCAACCTTCTGGATTCCTTCAGGATATGCAATTGAGCCCTGCAGAATTCTGCCTGCGTGGGTCAGAAGTAAGAGAGGCTGCGCATCCACCAACCCTAACTACAGTGTGAGAGACAGAACAGGCCCTCCGGCTGGGCCCCACCCAGGCTACAAGGCCCTCTATCTCTCTTTCTTCTGCTCACAAACCAAGACAACTGGCTGGGCTGAACATTAATCCTCCAGAAATGTCCATGCAGGAAACACCAGTCCCATCACTCACTGAAAAAGCCCTAACTCCTTTCTTTTCCCGCAGCTAACCTTGGAGGCAAGAATTACCCTGGGGATTATTCACTGGCATCATTAGTCTTTCCAGCCAGCCTGCTTCCCATCCAGGCTATTACACATAGGAAATGCCTGGCTGTGCCAATGGCAATTGAAATGGTAAATGGTACAAGTGATTCTCAAAAGACTTCCACTACGAGGCCAGAGCCTGACCTGAGAGAAGGCAGCACGTGGAGGAGGGAACTTCCAAGAAGCGTGGGTGAGTCCACCTAGAGTTTGCTAGACCCACTGCCACAGAACCTCTGGAAGAGCTTATTAAAAATATAAATTCCTGACCCTGTATTCCACATTGAATCAACATTTCTGGGAGTGGGATCAGAGAACCTGGCTTTTTAAAACAGAGCCATGTACTTGGGACGGCTGCAACATAATTGCAGAGTTTAAAGCCTGTTAACAGGGAATCTGCATTTTTAACAAGCTCCCTCTGAGGATTTTGATTGAGAATCCTGCTCTGTGGAACAGAGGGACAGGCTTCCCAGCTCAGGGGAAGGCTGAGCTCCTTGCTGGTACTCCTCAGCCTGTGACCACAGCCTCCTCTCCACCGCTCCCAGCCACACAATTTATGCTCAACTCCCCAACAGCCAGACCGGCCCCCTTCTCCTCTGCCTGCCTTTGTTCCTGCTGTCCCGAGAGTCCGCAGAGCCTCTCCTCCCCTTGCCTTGCCCTCTCCCCCTCACTCTATCTACTCCCTATGGGTGCTGGAACCACAGGCACCATTACAGAAAGGGGTGCCTCAGAAATCAAGCCTTATGTGAATTTTGTTCTTGGCTCCTCCAATGACCTTCGAGAAGAGAGGACCTCTGCAAGCCTCTGTCCCTCATTTGTAAAGTAGGGCTAACATGCCCTGTCTCCTAGGCTTGCTGAGAATACAGCATGGCTATGGTTCAGTGTGGTGCCCAATACATATCTGCCAGGTTCAGCCTTACACTGCTCTTACTTCCCCGTCCTCACTGACTGGGAGCTACTTGAGGGGAGTAACTGTGCCTCCTTCACGTCTGCACCCCCCGGTATGCAGAATCCAAGGCCATCGTTGAATGCTTGAGGCTGCAAAATGAATTCCTGTCCCCAAGCTGACCCCCATGCTGTCCCTCTTACCTGCCCAACGTTGAAGGTCAGTGTGATGGCATAAAAGAAATTAGATTTGGCACTTCCTGCATAAATCCAGAGGTGCCACAGGACAGGGAAGAGCAGGGAACAGACGATGATGATGCAGGTGAGGACAAAGATGTTTCTCAGGACTGCAAAGACAGAGGGTTACAGTTAGCCTGACACGCTCTCTCTGGCATGCTTTCCCTGCTGCAATGGCCCCCCTGAATGGAGAGGCCCAAGGTGAGCATCATGTAGCTCAAAGGCAGAGCACCCCCAGAGGTACTGGGGTGCCAAGAAGCAAACCCCAGACTCCTCAGTCAATGGCTCCCCATGCCCACAGCTGGTGGTAGCTCCTGGATTTCGATTATTTCCTCCCACTGTGGGCTTGGCTGGCTGAAGACCAGCTATAGTTAGAAATGCCATGAGTGCCTCGGGGCACCAAACAGGGCATTTCAGGAAGATATTCCCCTCACCTCCTAATCTTGGAGGGTCCAAGAGTATCCCTCTCCCCAAGCAGGGTGCCATCTGGCCATGTGGGATTATGGGTGGGAACCCCAGCATGAACCGTGACGATTAGAGCCCCACTGTGGGTCTCCATGGTGCCACAGTCCTGGGTCTTAGGAACACGTTTTCCATTCTCCTTAACTGGTGTCTTAGGACCCCTGCCTCGCTCTTCAAACATTCCCAACTCTCCCTTAGATGATAAAGGACCTCTTTTTGACACCGTCTCTCACTCCTTGCCTCTAAGGGAATGCCGAATCCCACCAGGAAGAAAGCTCTCCCTGAGGTCTCAGGAAGGACCTGCTACTCAAGGGTGATCCAGAGGCAGACAGGCTGGCTGGCTTCAGCCAAACAGGAGTGTAGCATGGCAGCCGGGTACAGACCTTGGTTAAAATCCTGCTCTGCATTTATTAGCAAGTTTCTCTAGACCTCAGCTTCCTCATCTGTAAACTGAGGCTACACACCTAGTATGTACTTATAAAAATTAAAAATTAGGGTGGGCATGGTGGATCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGAAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGAGCCCATCTCTAAAAAAATTTTAAAATTTAAAAATAAAAAATGTTTAAAAATAAAAATAAAATGGGGCTAAAATGCACACTTCATTTGGTAAACAAGATGACATGTGAAAAAATGACACAGATATATCACTGGCTACATTAGTTTTCCATTGCTACTATAGCAAATTCCCACAAACTTAGTGATTTAAATAATATTCTTTATTATTAAACAGTTCTGGAGGTCAGAAGTTCCAAAATGGGTCTCACAGGCTAAAATCTCTAGAGGAGAACCCCTTGCTTGCCTTTTCCAGCACCCAGAGGCCCCCTGCATTCCTTGGTTCATGACCCCCTTCCAGCTGCAAATCCAGCAATGGTGGATTGAGGCCTTCTCACATTGCATCACTCAGACCTTCTCTTCTGCCTCCCTCTTCCATCTTTTTTTTAAAATAGACTATTTATTTTGAGATGGAATCTCACTACATTGCCCAAGCTGGAGTGGAGTGGCTGGATCATATCTCACTGAAGCCTCGAATTCCTGGGCTCCAGGGATCCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCATGCACAAAGAAGCCCAGTGGACTTTATTTTTTAGGGAAGTTTTAGTTTCACAGCAAAATTGGGCAGAAGATTTCCCATATTCCCCCCACCTCCACCTCTTCCACTTTGAGGGACACTTGTGATTACACTGGGGCCACCTGGATTGTCCAGGATAATCTCCCCTCCCAAGGTCTTAAAGTCCCTTTGCCATGTAAGGCGATGTCTTCACAGGTTCTGGGGATTACAACGTGGACATCTTTGTGAGGGGAGGGCTACTACCCTGCCTACCACACTGTACTTTTTCCCCCGTTTTAACTCTCTAGGGGTTATCACACAGGAGGATTGTCTGTTACTTTTCTTTATCTTTATCATATTTTTAAAAACTAATAAATATCATTTAAAATAATTAAAAGAATACCTTTTTAAAAAGAACTTAGCACTGTGCCTGGT |
Task1_train_27825 | Here is a variant affecting PIGU (phosphatidylinositol glycan anchor biosynthesis class U) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glycosylphosphatidylinositol biosynthesis defect 21 | ACAGTTTTATAGGCCCATTAAGGCCAAGTTAAGAACCCTCAGTCTAGATATTTTTTAAAATCTCTCTGGGGTCTAAAATTCTAGAATTCACCAGCTTCATCTGTCACTGATGACCAGTGACACAGAAAGCACACTGCTATTTCTGGTTTCATTAGTAACAAAAGCTAAAATGAACCACAAACAGACAATGCCAATGAGATGCAGCCTTATTTCACCCCAGCCTAAATCTTCTCTCTCAGTGGCTCCCAGCCAATCAAGGAGTGTTGTAGCCATTTAACTACATGGGTAGTACACATGGTTAATCTGTTAACTTTCTCAGACCCCAGGAAAAGAAGAATGGTCCCACTATGCAATTCTCCTTGGCTATTACATATGGATTAAGACTGAAGTTTATATCAGGCATTTAATACATGTCAAATTTTCCAATTAAGATTACTTTCTGCAGGGAGACAGAAATGACATTGAGAATCCAATTTTACCTCAGATAGGCATAACAGTGACTTAAAAGCTGTATTTATCTTCCTATGCAAAAAAAAAAAAAAAAAAAAAAGACTGGTGAAAGACTAGAAGATTTTTAAGGGTCCTCATTAACGACAGGTAATATAACTGTTATTCAGCACTACTCCAGAAGTCTGAACTTGCACAGGTATGTGGATATTAATAGTTATTAATAAGCTACATAGATGAAGCTGGCCCTTCTTTATCTGTTAGTAAAGCTGTCTTGTGGGTTTGGGGTTGATCATTCCAGAGCTGGCTGAACAGGCCAGAAGTTTCACCATCACTTCCTAGCACTTTAAAGCATCTGGATCCTTAAGTATAAGATCTTTGTAATAACAAAGACCAGAAGGTTACCAAATTCCACCAGCTTTGCTCCACCCACAAACTACTTACCACAACTTTATTGAAGTCCTGGATTGCAAAATACAGGGCAATAGCAGTGAGTGCATCAGTTATCTGTCAAAAGAAAGAGAAATAATAGGAAATGGAACACAGTAAGTGTAAGAGTACTAGAGTGCTACCAGGGCTTGGAGTTTTGAGATAGTGATGGACTACCAAGTACTGGACTCTTACAATCAGGTAGAACTTCAACCCTCACTTTGACTACCCAAAGATAAGGCCCATTCAGGCAGGGTGAACTGGAAATCCCTGAGGATCAGGACCCATCTAGGTTCACTTCAGTTTAGTGGCCCATATCTGCTCTAGAATTGCAAGATACTTATGTTTTTTGTAAAATGGAAATAATACCCACTGCTTTGCATGCCTGATGTATGTCAAGTGCCTAGCACACAGTAGGTCCTCAATAAATAGAGTTTGTTATAATTACTAAGGAAGACCTCAGTGGGCTTCCTGGGTATTTCTTGACTCAAATTTTCAATCCCAGACAAGTGTTTCAAATTGCTATGCTCTCAAAACATAGACCTGTCATCCCAATTCTGAAGCTTCTCGCCCCTGAAAGCCTCAAACCTGTGTCCTCTTCTTCCATAATGACTCACAGAATCTCTTGGCAAAATGCTTAGGACAAATTCAGAATGCCCTCCACGCCGGCTTCACAATTAAAGCCAATCATAGAATCTCAGAGCTAGAAAATTCAAGACTATATATAGTCCAGAAACCAAATTCTAAAAAGAGTAAGTATTTGGAACTGGTTACACATCAGAAACTATTCCTCACACTTCCATAATACTGCCACAGTTCCATGAATTCAAAGTAAAGACATAAGTTTTTGCTTTTATTTTCTGAGAAACTCCTGAGTTCCTATGTTTTTTGTTTTTTGTTTTTTTCTTAAACACAAGATGACAAGCCGGGCACTGTGTCATGTGTCCATAGTCCCAGCAGCTGAGGAGGCTGAAATGGGAGGACCACTTAAGTCCAGGAGTCCAAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAGAGAGAGAGAGACAATAAACCATAAAATTTAAAAATATATACATATCAATTTTATATGGAAGGTTACTTACCATAAACACCAATTCAGCATAGTCAATTAGGAAATGAAAGAGGTATATTATTAATGGAGTCTGCAGAAAAAAAACAGACATGTAAAAAAAATTAAGTTAAACCTTACTATTATCAGTTTCCAGAGTAGAGAGTGGGGAGAAAACTATTATGTCAGCAAACTATTATGCTAGTATTCTCCTTCCTGGAATACTGTTCTACGCCAGCTGGCCGGTGTGCTTATAGGGGAGAATAATTTAGTACTGCCGGACCATTTTGTGCTGCTGGGACTATCTGTTGAATTGAGTAAAGGAAATAAAATCTGATGTGTTAAATAACCATTAAAGAATAGTCAACACACTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAACTACTAGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCACGCGACTGCACTCCAGCGTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAATAAATAAATAAATAAAAAATATATAGTCAAGACACTAAAGGTAAGAGGTGAATTGTAGTTCTAAGACATATATAATAGCCGAGGGGAATTCCACAACAGACCAAGATTGCTGATTCCATTTCACTCACAAAATGAGCTTCTTCTGTTCTCTGATAAGTTTGTATAATATTTTTTTCTTTATTTATTTTCTTGAGACTAGTTCAGAAAGATTAATGTTATTTCTTCCTCAAAGATTTGGGAAAATTCACTCACTGTGAAGCCATCTCTGCCTGGATTTTCTTTGAGAGATTTTAAATCACAGATTCTATTTATTTCATAGATAAAACATTCAGATTTGCTGTTTTTACTTTGTCAATTTAGGTAAGTTGTGTTTTTCCAGGAATTTGTCCATTTCATCTAAATTTTCAAGCTTACTGACAAAATTGTTCATAGTATTTCATTTTTTATTGTTTAAAGCAATAAAGTTTCCTATGAGTATGGCTTTAGCTGTATCACACGAGTTTTGATACGTTGGATTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCAGAGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTAACCTCAAGTGATCCACCTGGCTCAGACTCCCGAACTGCTGGCATTACAGGCAGGAGCCACTGTGCCCAGCCATTTTCTTCAATATCATTTAGTTGAAAATATATTCTAACTTCCAGTAACATTTCTTCTTTGAGACTACTTTAAAATGTACCATGTTCAATTTCCAAATACTTAGGAGTTTTCTTTTCTTTTCTTTTTTTTTTGAGACAGACTCTCGCACTGTTGCCAGGGCTGGTGTGCAGTGGCTGGATCTCGCTTGCTGCAAGATCCTCCACCTCCAGGGTTCAGATGATTCTCCTGCCTCAGCCTCCCCAGTAGCTAGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTTTTGTTATTTATATATTTATTTTGAGGCAGAGTTTCGCTCTTGTTGCTCATGCTGGAGTGCAATGGCACGATCTCAGCTCATCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCACCACGCTGGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTTGAACTCTCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAAGTGTGAGCCACCGTGCCCGGCCGTTTTTTGTTTGTTTGAGACAGAGTCTTGCTCTGTTGCTAGAGTGCAGTGGCACAATCTCGGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATT | ACAGTTTTATAGGCCCATTAAGGCCAAGTTAAGAACCCTCAGTCTAGATATTTTTTAAAATCTCTCTGGGGTCTAAAATTCTAGAATTCACCAGCTTCATCTGTCACTGATGACCAGTGACACAGAAAGCACACTGCTATTTCTGGTTTCATTAGTAACAAAAGCTAAAATGAACCACAAACAGACAATGCCAATGAGATGCAGCCTTATTTCACCCCAGCCTAAATCTTCTCTCTCAGTGGCTCCCAGCCAATCAAGGAGTGTTGTAGCCATTTAACTACATGGGTAGTACACATGGTTAATCTGTTAACTTTCTCAGACCCCAGGAAAAGAAGAATGGTCCCACTATGCAATTCTCCTTGGCTATTACATATGGATTAAGACTGAAGTTTATATCAGGCATTTAATACATGTCAAATTTTCCAATTAAGATTACTTTCTGCAGGGAGACAGAAATGACATTGAGAATCCAATTTTACCTCAGATAGGCATAACAGTGACTTAAAAGCTGTATTTATCTTCCTATGCAAAAAAAAAAAAAAAAAAAAAAGACTGGTGAAAGACTAGAAGATTTTTAAGGGTCCTCATTAACGACAGGTAATATAACTGTTATTCAGCACTACTCCAGAAGTCTGAACTTGCACAGGTATGTGGATATTAATAGTTATTAATAAGCTACATAGATGAAGCTGGCCCTTCTTTATCTGTTAGTAAAGCTGTCTTGTGGGTTTGGGGTTGATCATTCCAGAGCTGGCTGAACAGGCCAGAAGTTTCACCATCACTTCCTAGCACTTTAAAGCATCTGGATCCTTAAGTATAAGATCTTTGTAATAACAAAGACCAGAAGGTTACCAAATTCCACCAGCTTTGCTCCACCCACAAACTACTTACCACAACTTTATTGAAGTCCTGGATTGCAAAATACAGGGCAATAGCAGTGAGTGCATCAGTTATCTGTCAAAAGAAAGAGAAATAATAGGAAATGGAACACAGTAAGTGTAAGAGTACTAGAGTGCTACCAGGGCTTGGAGTTTTGAGATAGTGATGGACTACCAAGTACTGGACTCTTACAATCAGGTAGAACTTCAACCCTCACTTTGACTACCCAAAGATAAGGCCCATTCAGGCAGGGTGAACTGGAAATCCCTGAGGATCAGGACCCATCTAGGTTCACTTCAGTTTAGTGGCCCATATCTGCTCTAGAATTGCAAGATACTTATGTTTTTTGTAAAATGGAAATAATACCCACTGCTTTGCATGCCTGATGTATGTCAAGTGCCTAGCACACAGTAGGTCCTCAATAAATAGAGTTTGTTATAATTACTAAGGAAGACCTCAGTGGGCTTCCTGGGTATTTCTTGACTCAAATTTTCAATCCCAGACAAGTGTTTCAAATTGCTATGCTCTCAAAACATAGACCTGTCATCCCAATTCTGAAGCTTCTCGCCCCTGAAAGCCTCAAACCTGTGTCCTCTTCTTCCATAATGACTCACAGAATCTCTTGGCAAAATGCTTAGGACAAATTCAGAATGCCCTCCACGCCGGCTTCACAATTAAAGCCAATCATAGAATCTCAGAGCTAGAAAATTCAAGACTATATATAGTCCAGAAACCAAATTCTAAAAAGAGTAAGTATTTGGAACTGGTTACACATCAGAAACTATTCCTCACACTTCCATAATACTGCCACAGTTCCATGAATTCAAAGTAAAGACATAAGTTTTTGCTTTTATTTTCTGAGAAACTCCTGAGTTCCTATGTTTTTTGTTTTTTGTTTTTTTCTTAAACACAAGATGACAAGCCGGGCACTGTGTCATGTGTCCATAGTCCCAGCAGCTGAGGAGGCTGAAATGGGAGGACCACTTAAGTCCAGGAGTCCAAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAGAGAGAGAGAGACAATAAACCATAAAATTTAAAAATATATACATATCAATTTTATATGGAAGGTTACTTACCATAAACACCAATTCAGCATAGTCAATTAGGAAATGAAAGAGGTATTTTATTAATGGAGTCTGCAGAAAAAAAACAGACATGTAAAAAAAATTAAGTTAAACCTTACTATTATCAGTTTCCAGAGTAGAGAGTGGGGAGAAAACTATTATGTCAGCAAACTATTATGCTAGTATTCTCCTTCCTGGAATACTGTTCTACGCCAGCTGGCCGGTGTGCTTATAGGGGAGAATAATTTAGTACTGCCGGACCATTTTGTGCTGCTGGGACTATCTGTTGAATTGAGTAAAGGAAATAAAATCTGATGTGTTAAATAACCATTAAAGAATAGTCAACACACTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAACTACTAGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCACGCGACTGCACTCCAGCGTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAATAAATAAATAAATAAAAAATATATAGTCAAGACACTAAAGGTAAGAGGTGAATTGTAGTTCTAAGACATATATAATAGCCGAGGGGAATTCCACAACAGACCAAGATTGCTGATTCCATTTCACTCACAAAATGAGCTTCTTCTGTTCTCTGATAAGTTTGTATAATATTTTTTTCTTTATTTATTTTCTTGAGACTAGTTCAGAAAGATTAATGTTATTTCTTCCTCAAAGATTTGGGAAAATTCACTCACTGTGAAGCCATCTCTGCCTGGATTTTCTTTGAGAGATTTTAAATCACAGATTCTATTTATTTCATAGATAAAACATTCAGATTTGCTGTTTTTACTTTGTCAATTTAGGTAAGTTGTGTTTTTCCAGGAATTTGTCCATTTCATCTAAATTTTCAAGCTTACTGACAAAATTGTTCATAGTATTTCATTTTTTATTGTTTAAAGCAATAAAGTTTCCTATGAGTATGGCTTTAGCTGTATCACACGAGTTTTGATACGTTGGATTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCAGAGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTAACCTCAAGTGATCCACCTGGCTCAGACTCCCGAACTGCTGGCATTACAGGCAGGAGCCACTGTGCCCAGCCATTTTCTTCAATATCATTTAGTTGAAAATATATTCTAACTTCCAGTAACATTTCTTCTTTGAGACTACTTTAAAATGTACCATGTTCAATTTCCAAATACTTAGGAGTTTTCTTTTCTTTTCTTTTTTTTTTGAGACAGACTCTCGCACTGTTGCCAGGGCTGGTGTGCAGTGGCTGGATCTCGCTTGCTGCAAGATCCTCCACCTCCAGGGTTCAGATGATTCTCCTGCCTCAGCCTCCCCAGTAGCTAGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTTTTGTTATTTATATATTTATTTTGAGGCAGAGTTTCGCTCTTGTTGCTCATGCTGGAGTGCAATGGCACGATCTCAGCTCATCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCACCACGCTGGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTTGAACTCTCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAAGTGTGAGCCACCGTGCCCGGCCGTTTTTTGTTTGTTTGAGACAGAGTCTTGCTCTGTTGCTAGAGTGCAGTGGCACAATCTCGGCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATT |
Task1_train_27826 | A genetic alteration is present in ACSS2, LOC126863018 (acyl-CoA synthetase short chain family member 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33508643-33509842) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TGAGGCCCAGGGTGAGACAGTTCAGGTGGAGGGTTTTCATACAGCTGACATGGATGTTCTTTCCCTATGCACCCATGGTTTGGTTGAAGGAGAGCTATTCTGTTAACTCAAGGCCAAGGGTGGGCACAGAGATCCCTCTCAGGCTTCTAAGACCATAACTCTTAGAGTTCAATTCCTTCCACCTGGCACACTATTAACATGTAGTCCTCTGCCAGCACACACCATGGGAGCCGGAAACACTTAAGAAAACTGTTTCTTCCATTGACTTGAAAGCTATGTCACTCTACCTTCTGCCCACTCCACCCCTAAATTATCTCCATATGCTTTGGAATATCCCTCAATAAGTCTTTAGAAACACAATTTTGGCCTCTCTTTCATAGAGATGGGGGTAGGGATGGAATAAGCAAAGGGAATTATCTTTTTTTTCCCACTCACTCTGATGGTGTGTAATTGAGTGTGTGGGCACAAATACACAACAGAGGGACTATTATGAGTGTGCTATGAGTGCTCATGTGTGAGTGATGTGGGTGGCTCTGAAATACCATCTGAGGGTGCTGGTATGAATGATGGCCTGATAGACATATGTGTCATCAGGAGTGTGATAAAGGAGATGAGATGGGAGCATGGAGAAAAGGAGATGGAAGGGAGATGGATGCTGTGAAAAGGGTGCTGGCAGGGCTGGAATCCCTGAGGAGGATCTTCCTCCAGCTCTGCCCAGCCTCCATTTGGTGGTCAGTAGGGGTGGGCATAAGACCCTAACCTGTTCCCCATTCTTCCCACAGGGTGTGGTTCACACAGTTGGGGGCTACATGCTCTATGTAGCCACAACCTTCAAGTATGTGTTTGACTTCCATGCAGAGGATGTGTTCTGGTGCACGGCAGACATTGGTTGGATCACTGGTCATTCCTACGTCACCTATGGGCCACTGGCCAATGGTGCCACCAGTGTTTTGGTGAGAAGGGAGCCACCTGGCCTAGCTGGGGGATGGACAAGATTATCCTGGGTGACTACCTCCCAAGGCTGCTTGGTCTAGAGGGAGGGGGACTTATACAATCATCTGTTTTCTGGAGAAAGAGAAGTCCTGAGGGGGTTGCGTATCCTGACTAGGATGGTATCTTGGCTTGTCTGGCCAGGGAGTGAAGATATGGTTGGTCAGAAAGGGCAAAATACTGAACCTGAGGGAATGGTAGGGGGATGAATAGAAGGACTATTAGGAAAGACTGGGAATGACCAGCCTTCATGGGTCAGTTTGAGGGGATTCCCACATATCCGGACGTGAACCGCCTGTGGAGCATTGTGGACAAATACAAGGTGACCAAGTTCTACACAGCACCCACAGCCATCCGTCTGCTCATGAAGTTTGGAGATGAGCCTGTCACCAAGTGAGACCTCTTCCCAGTTGCTGCCCTGTGGGTATCCCTCAGAGCTGGGTGCTGGCCTTTGTACAGTCTCTTCTTTTCCATTGTCCCAACTCTCTGACCTGGAATAGAGGATGGGGCAAGAGAAAAGCCTGGGTATGTGTGTCTTCCAGTAGTACTCAGAGCCTTCCTCTCTCCCATTCCCCTGCCCCAGGCATAGCCGGGCATCCTTGCAGGTGTTAGGCACAGTGGGTGAACCCATCAACCCTGAGGCCTGGCTATGGTACCACCGGGTGGTAGGTGCCCAGCGCTGCCCCATCGTGGACACCTTCTGGCAAACAGAGACAGTGAGTGAAGGGTACAGAAGGCTGGGGCCCAGGGACAATGTGGGAAGATTGACTCAAATTTCTCATCTCTGACTTCCCCAGGGTGGCCACATGTTGACTCCCCTTCCTGGTGCCACACCCATGAAACCCGGTTCTGCTGTGAGTGATGCTTCCCTGGCTGGTCTTGGGCTAGGCAGGGATGGTGTCTTGGGGCACTTGGCCTAGTTAGATAGTGGAGAACTGGACTGACATGTGTGAAGAATTTGGGGTTCTGGGGCCCCTTGGGAGTTGAGTCAGAGTTGCCTCATTCCTCTTCTTGGGTTCTGTCTCCCGTTTGCTTCTAGACTTTCCCATTCTTTGGTGTAGCTCCTGCAATCCTGAATGAGTCCGGGGAAGAGTTGGAAGGTGAAGCTGAAGGTTATCTGGTGAGGCCCTGGCCCTTGGGAGTCTTTAAGGAGAGAGGGAAAGGGTCTGCCAAGGGTACTTTGCTTTAGAGTTAATAACCTAATCTCTCCTGGTAGCTGCTTAGGACTGAAACTTCATGGTTGGAGGTTTGCTCACTGAGAGACCCTGGAGGGGACCCTCGATACTTTGCCTGCATCTCTTCCTTTTGGGCCATAAGTCTCCTAAGGGCGTTTTAAGAGTTGCTCAGATTCCTGATGGTACCTTTTTGGGTCTGGAAGACTAAGTCCCATCTTCTTTTGACAAAGATTCTACAGAAAGGAGGCTTTATAACATAGTAGAAAATCACGTAGGATCTGGAGTCACCCTGCCTGGGTTCGAATCCTAGCTCTGCCTCTTCTGTGACCTCAGATAAGTTATTTAACACCTCTGAATCTACATTTTCTAATTTGTAAAATAGGGTTAAAGTGGTGTCTCTGGCCGGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGCCAGGAGTGCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACCAAAAATACAAAAAGTAACTGGGCGTGGTGGTGGACGTCTGTAATCCCAGCTACACGGGAGGCTGAGACAGGAGAATCACTTGAACCGGGGAGGTGGAGGTTGTATTGAGCCGAAATTGTGCCATTGCACTTCATCCTGGGCAACAAGAGCAAAATTCCGTCTCAGAAAAAAATAATGCCTTTGTCTCCTATGGTTGCTTGCTTGATTGAGTTAGATAATCCACATGAAGGGGTTAGCAGAGAAACTAACAATTAGTACTTGATAAACATTAGCTGTTGTGATTATTGTATTCATACTTGCAGGAGCCTCACCTGTCCCTTCAACCCCACCCCATTTCACTTTCCCAAGAGCAAGTTAGTAACAGGGACAGGGCTTACATCCAGGCCTTCTGACTCAGCCTAGAATTCCATCCATTCCATCGATCTGCTGCCAAAGAATGTTACTGATTGGGCAATAATTATTTACTTGGTGTGTGGGCACCACTGTTTTTTAAATGAGTGTTTTCATTTGTATCAAACTGGACCTGCTTTCCTCAAGGATTGCCCAAAAGGAGACACAAATTTACTAAACACTTATCAATAATAGAACACCGTGCTAGGCAATTTCCATATACTATTAATTTAATCCTCACAATAACTTTGGAAGACAGAAAGTATTTTCTCTGATTTACAGATGAGGATCCTGAAGCTCAGAGGGGTAAAGTTACTTCTCTGAGGTCACCTAGCTAGTAAGTGGTAGAGCTGGGATTCCAAGCCAGGATCCTCTGTCTCCAAAGCCTGTACTTCATTCAGGACACTTTCCCCCACATTTAGAAAAGCTGTAATTATCTTCCAGTGAGACAGCATAGCAAATGTGATCACTGTCCCTTCCTCACTCCCCAGGTGTTCAAGCAGCCCTGGCCAGGGATCATGCGCACAGTCTATGGGAACCACGAACGCTTTGAGACAACCTACTTTAAGAAGTTTCCTGGATACTATGTTACAGGAGATGGTGAGCCTTAGCTATCCCCCTCTTGCACCTCCCACTAAGACATGTACCTTCCACTTCCATTTTCAGGAAGAGTTGGTGTGTTGCTATAAAATAATACCTGAGACTGGGTGATTTATAAAGAAAAGAGGTTTATTTTGGATCATCATTCTTCAGGCTGTGCAGGAAGCATGGTGCTGGCATCTGCCTATGGTGAGGCCTCAGGTAGCTTCCAATCACGGCAGAAAGCAAAGGGAAAGCCAGTGTTTGACATGGCAAGAGAGGAAGCAAGGGAGAGAGGGAGGAGATACCAGCCTCTTTTAAACAACCAGATCTTACATGAACTCATAGAGTTACTGCAAGTACAGCACCAAGCCATTCATGAGGGATCTGTCCCCCCCGCCCCCCCCACCTCCCCGGCCTTGACCAAAACACCTCCCACCAG | TGAGGCCCAGGGTGAGACAGTTCAGGTGGAGGGTTTTCATACAGCTGACATGGATGTTCTTTCCCTATGCACCCATGGTTTGGTTGAAGGAGAGCTATTCTGTTAACTCAAGGCCAAGGGTGGGCACAGAGATCCCTCTCAGGCTTCTAAGACCATAACTCTTAGAGTTCAATTCCTTCCACCTGGCACACTATTAACATGTAGTCCTCTGCCAGCACACACCATGGGAGCCGGAAACACTTAAGAAAACTGTTTCTTCCATTGACTTGAAAGCTATGTCACTCTACCTTCTGCCCACTCCACCCCTAAATTATCTCCATATGCTTTGGAATATCCCTCAATAAGTCTTTAGAAACACAATTTTGGCCTCTCTTTCATAGAGATGGGGGTAGGGATGGAATAAGCAAAGGGAATTATCTTTTTTTTCCCACTCACTCTGATGGTGTGTAATTGAGTGTGTGGGCACAAATACACAACAGAGGGACTATTATGAGTGTGCTATGAGTGCTCATGTGTGAGTGATGTGGGTGGCTCTGAAATACCATCTGAGGGTGCTGGTATGAATGATGGCCTGATAGACATATGTGTCATCAGGAGTGTGATAAAGGAGATGAGATGGGAGCATGGAGAAAAGGAGATGGAAGGGAGATGGATGCTGTGAAAAGGGTGCTGGCAGGGCTGGAATCCCTGAGGAGGATCTTCCTCCAGCTCTGCCCAGCCTCCATTTGGTGGTCAGTAGGGGTGGGCATAAGACCCTAACCTGTTCCCCATTCTTCCCACAGGGTGTGGTTCACACAGTTGGGGGCTACATGCTCTATGTAGCCACAACCTTCAAGTATGTGTTTGACTTCCATGCAGAGGATGTGTTCTGGTGCACGGCAGACATTGGTTGGATCACTGGTCATTCCTACGTCACCTATGGGCCACTGGCCAATGGTGCCACCAGTGTTTTGGTGAGAAGGGAGCCACCTGGCCTAGCTGGGGGATGGACAAGATTATCCTGGGTGACTACCTCCCAAGGCTGCTTGGTCTAGAGGGAGGGGGACTTATACAATCATCTGTTTTCTGGAGAAAGAGAAGTCCTGAGGGGGTTGCGTATCCTGACTAGGATGGTATCTTGGCTTGTCTGGCCAGGGAGTGAAGATATGGTTGGTCAGAAAGGGCAAAATACTGAACCTGAGGGAATGGTAGGGGGATGAATAGAAGGACTATTAGGAAAGACTGGGAATGACCAGCCTTCATGGGTCAGTTTGAGGGGATTCCCACATATCCGGACGTGAACCGCCTGTGGAGCATTGTGGACAAATACAAGGTGACCAAGTTCTACACAGCACCCACAGCCATCCGTCTGCTCATGAAGTTTGGAGATGAGCCTGTCACCAAGTGAGACCTCTTCCCAGTTGCTGCCCTGTGGGTATCCCTCAGAGCTGGGTGCTGGCCTTTGTACAGTCTCTTCTTTTCCATTGTCCCAACTCTCTGACCTGGAATAGAGGATGGGGCAAGAGAAAAGCCTGGGTATGTGTGTCTTCCAGTAGTACTCAGAGCCTTCCTCTCTCCCATTCCCCTGCCCCAGGCATAGCCGGGCATCCTTGCAGGTGTTAGGCACAGTGGGTGAACCCATCAACCCTGAGGCCTGGCTATGGTACCACCGGGTGGTAGGTGCCCAGCGCTGCCCCATCGTGGACACCTTCTGGCAAACAGAGACAGTGAGTGAAGGGTACAGAAGGCTGGGGCCCAGGGACAATGTGGGAAGATTGACTCAAATTTCTCATCTCTGACTTCCCCAGGGTGGCCACATGTTGACTCCCCTTCCTGGTGCCACACCCATGAAACCCGGTTCTGCTGTGAGTGATGCTTCCCTGGCTGGTCTTGGGCTAGGCAGGGATGGTGTCTTGGGGCACTTGGCCTAGTTAGATAGTGGAGAACTGGACTGACATGTGTGAAGAATTTGGGGTTCTGGGGCCCCTTGGGAGTTGAGTCAGAGTTGCCTCATTCCTCTTCTTGGGTTCTGTCTCCCGTTTGCTTCTAGACTTTCCCATTCTTTGGTGCAGCTCCTGCAATCCTGAATGAGTCCGGGGAAGAGTTGGAAGGTGAAGCTGAAGGTTATCTGGTGAGGCCCTGGCCCTTGGGAGTCTTTAAGGAGAGAGGGAAAGGGTCTGCCAAGGGTACTTTGCTTTAGAGTTAATAACCTAATCTCTCCTGGTAGCTGCTTAGGACTGAAACTTCATGGTTGGAGGTTTGCTCACTGAGAGACCCTGGAGGGGACCCTCGATACTTTGCCTGCATCTCTTCCTTTTGGGCCATAAGTCTCCTAAGGGCGTTTTAAGAGTTGCTCAGATTCCTGATGGTACCTTTTTGGGTCTGGAAGACTAAGTCCCATCTTCTTTTGACAAAGATTCTACAGAAAGGAGGCTTTATAACATAGTAGAAAATCACGTAGGATCTGGAGTCACCCTGCCTGGGTTCGAATCCTAGCTCTGCCTCTTCTGTGACCTCAGATAAGTTATTTAACACCTCTGAATCTACATTTTCTAATTTGTAAAATAGGGTTAAAGTGGTGTCTCTGGCCGGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGCCAGGAGTGCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACCAAAAATACAAAAAGTAACTGGGCGTGGTGGTGGACGTCTGTAATCCCAGCTACACGGGAGGCTGAGACAGGAGAATCACTTGAACCGGGGAGGTGGAGGTTGTATTGAGCCGAAATTGTGCCATTGCACTTCATCCTGGGCAACAAGAGCAAAATTCCGTCTCAGAAAAAAATAATGCCTTTGTCTCCTATGGTTGCTTGCTTGATTGAGTTAGATAATCCACATGAAGGGGTTAGCAGAGAAACTAACAATTAGTACTTGATAAACATTAGCTGTTGTGATTATTGTATTCATACTTGCAGGAGCCTCACCTGTCCCTTCAACCCCACCCCATTTCACTTTCCCAAGAGCAAGTTAGTAACAGGGACAGGGCTTACATCCAGGCCTTCTGACTCAGCCTAGAATTCCATCCATTCCATCGATCTGCTGCCAAAGAATGTTACTGATTGGGCAATAATTATTTACTTGGTGTGTGGGCACCACTGTTTTTTAAATGAGTGTTTTCATTTGTATCAAACTGGACCTGCTTTCCTCAAGGATTGCCCAAAAGGAGACACAAATTTACTAAACACTTATCAATAATAGAACACCGTGCTAGGCAATTTCCATATACTATTAATTTAATCCTCACAATAACTTTGGAAGACAGAAAGTATTTTCTCTGATTTACAGATGAGGATCCTGAAGCTCAGAGGGGTAAAGTTACTTCTCTGAGGTCACCTAGCTAGTAAGTGGTAGAGCTGGGATTCCAAGCCAGGATCCTCTGTCTCCAAAGCCTGTACTTCATTCAGGACACTTTCCCCCACATTTAGAAAAGCTGTAATTATCTTCCAGTGAGACAGCATAGCAAATGTGATCACTGTCCCTTCCTCACTCCCCAGGTGTTCAAGCAGCCCTGGCCAGGGATCATGCGCACAGTCTATGGGAACCACGAACGCTTTGAGACAACCTACTTTAAGAAGTTTCCTGGATACTATGTTACAGGAGATGGTGAGCCTTAGCTATCCCCCTCTTGCACCTCCCACTAAGACATGTACCTTCCACTTCCATTTTCAGGAAGAGTTGGTGTGTTGCTATAAAATAATACCTGAGACTGGGTGATTTATAAAGAAAAGAGGTTTATTTTGGATCATCATTCTTCAGGCTGTGCAGGAAGCATGGTGCTGGCATCTGCCTATGGTGAGGCCTCAGGTAGCTTCCAATCACGGCAGAAAGCAAAGGGAAAGCCAGTGTTTGACATGGCAAGAGAGGAAGCAAGGGAGAGAGGGAGGAGATACCAGCCTCTTTTAAACAACCAGATCTTACATGAACTCATAGAGTTACTGCAAGTACAGCACCAAGCCATTCATGAGGGATCTGTCCCCCCCGCCCCCCCCACCTCCCCGGCCTTGACCAAAACACCTCCCACCAG |
Task1_train_27827 | This alteration occurs within gene GSS (glutathione synthetase) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Inherited glutathione synthetase deficiency | CTGGCCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGTGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAATTGTTAACTTCCAAATATTTAATGCAGGCTCCCTGCTTAGACATCATATGACTGGCCCCCAAACAAACTCAACTTGTCCAAGCAGAACTTATTACTTCTGCCTGAACCTGCCCCTCCTGGACCTTCCTACTCCCAATCAGGCAAAAGGTACCCCTGAGTCATATTTAACTCCTCCCTTCCACTACCCTCTCACTATCTAGGACATGTCTCTCCAGTTGGCCCCATAGTCATAGCCCTAGCCCAGGCCTCTACGTTGCTCTTCTGAACAACTGTATCAGCCTCTTCCACGGTCTTTCTGCTTCCAGTGTCTCCCCTCATTCCAGGACATCTTCTACAATGCAGAAACTGTAAGTTTTGCAAGTTCCCACCACTGCTAACCACTTGAGTCCTGGATCAATGTGTCCCTTCCTGGCTTAAAACTCCCTAATGGCTTCCCACTGCCCTTAAGATAAAATCCAATTTCTCAGTATATATTCAAGGCCCTTTATAATCAGGATGCAAACCATTTTTCCAGCCTAAATCCCTGTCCCCTCCCAGCTCCCCCTCCAGCCTCACCAGTTTCTCATTAACCTCCAAACATCTCACACTTTCATGGCCCGGTGCCTTGGCTTGAGGTTGTCCCTTTTGTATGGAACACTCTTCCTCCTTTCCACCTGGGAAATTCCTACCCACCTCTTAAGACAAAGATTAAAAAAATCCTCTCCTCTGGAGAGGCAGACATGACCCCTGACCTCAAGGAGTTTCAAACTAGAAAGGAAAACAGACATGTATTCTCTCCAGTCTCCTAATATGACCCTACTCTACTTCCCAACAATCTACCCACAGGCACCTCAGGTAAAACTTGTCCAAACCCTTCAATGCTGGTTAATCAGATTCCCCTGTGCTCCCGGACTTGGTCACAGGGTCTTAGGGGACACTGTCCAACATGTGGCCTGTGTCAGTTCCAATAGTTTCCCCCATGCCCGGGACTGTGCCCAGAGTAAGTGCCAATGAGCACTGGCCACAGCCTGCTAGTCCCTCTCATTGAGGAGCCCTGCAAAGGGAGATCCACCTACCTCCACCCTCTCTCTGGGGCTTTAGCACAAACCGGCTAGGGGCAGCAAGGGCCTCGGCGATGGCCTGGTCCCCTTCTTCACCCTGGCAGGAGGCAGAAAGCAGTTATCAAAAGTTTAAAGGCTAAAGAGGCAAGAAGCTTAGGTCCAGCTGGTTATGCAGAGCAGCATCAGAGGAAGAGCAGGAGGGAGAACAGCCACAAATTCCTTCAGGCAGGATGCTACTATCTGGATGACACTCCCAACAAACCCCCTGCAGCAGCCGATGCAATGAGAACAGGCCTTTCTTTAGCAACAGCTCAGGGCTCTGCAGCAGGCAGCCTGATACACTTCTCAATTCTTGCCACCTGCCTTAGTCCCTTCCCTCTGGTTGCCATCCTCATCTCTACCTTTGCTGAGGGAGCTTACAATGGATTCCAGCCCCCATCCTTCCATTATGAGGCTGCCCTTCTGCTCAGAGTTCTAGGGGTTCTCCAGAGCATCACCAACCTTGCCAGCTCCACCTTCCCCTTGTCACAATGCCAGCTCCACCCTCCCCAACACATTGGGCTGTAGGTCTCTGCCACCTAGGAGGCCTGTGGTAGGAGAAACAGGCTGCCCACGTACCACATCCAGTGAGTAGAGGCCAGCAAAGGTGGCGCGGAGGCGGGCCACAGCCTCAGGCTGGCCAGGGAGCAACATCTCCAGCATGCCCGGCCTGCTTAGCTCCTGCTGCACCTTCTTAGTCCCAGCCAGCTGGGTGGCAATGTCTGGGCACTTGGCAGCATGTGACCTCTCCAGCAGTAGACGTGCTTCCCAATTCTGCAGAGGGAAGAAGACAAAAGGAATTCGACTTTATTTTACTTCAGCTGACGTTTACTGAACATCCATCCATTAGGTGCCAGGTATCATGATTTGTATCTTCACCCTCATTATCACCCAGGATCATTCTAACATCCTTGTGAGCCAGGTGTGATATGTTGTAGTTATGTATCATTGTGCCAGACTGTGAGCCCCTGCAAAGGCAAGAATCCCCCAATCTGTGGGAAACAATAGAAGGTGTAAGGGTAGAACATTTGTCTACGTGCTCAGCTTCCCACTGTGTTCCATACTCCCTACCATGGCCTTCAAGATCCTTCAGGAGCTGGCTCCTGTCTACTTTTTCAACCTTGTACCATCCCTGACTCCTAGTCTCTGCCATTCTACTCACACAGGCCTGTCATTCCTCAAATCACAAAGCTCTTTCCCTCCTCAGGGCCTGCACTGCTTTTCCCTCAACCTGAAACCCCCTTCCTTTCGGCTTTTCCCATGCATAGCTGGATCCTTACCATCCTTACATCTCAGCTCAATGTCACCTTTTCAGAGAAGGCTTCCCTGTCCACTCTATTTAATGTGGATTTCCCATAATTCTCTTTTTACCCAGTTGTTTCATTGAAAGCAGTTACCTGAGACTAAAACACACACATGCACACATACACGCACACGCACACAAACATACACACACAAATCCCAATTTTTTTTTCCTATTTTTGTTTACTTTTTTTTTCTTTTGAGACGTGGGTCTTGCTCTGTCACCCAGACTGGAGTGCAACAGCGCAATCTTGGCTCACTGCAACTTCTACCTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTATTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCATGCAATCCACCTACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTACGAGCCACAGTAAATGGCCATATTTTTGTTTACTTTCTGATGCCCATTTCTCTGACCAGACTGTGAGCTCCATAGCACAGGGCTCTTATCATTTTCCTCATTTTCTGTTGTATCTCCAGTGTCTAACACAGTTCCTGGCACTTTGTAGTTGCTCAATAAATATTTGTTGTTGTTGCTGAATAAGTTGAAATTTGAGTGGGGTTCTGAAGGACAGGTAGAGCCTGACAAGTGAGACTCAATAGGGAAGGGATACTCAGGCTAAGAGAATAATATGAACACAGGTCTCAAGTGGATGATCACAGGATGAATGGTTTATTACCACAAGAGCTGAGGGTATAAAAGGCAAGGAAACAGCAGGGGATCATGCCTCCCAACTCTGGTTCCCATTCTCATGCAATGGGGAGACAGTCTGTCCTTGGCTCCAGACCACTGCAAACTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAA | CTGGCCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGTGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAATTGTTAACTTCCAAATATTTAATGCAGGCTCCCTGCTTAGACATCATATGACTGGCCCCCAAACAAACTCAACTTGTCCAAGCAGAACTTATTACTTCTGCCTGAACCTGCCCCTCCTGGACCTTCCTACTCCCAATCAGGCAAAAGGTACCCCTGAGTCATATTTAACTCCTCCCTTCCACTACCCTCTCACTATCTAGGACATGTCTCTCCAGTTGGCCCCATAGTCATAGCCCTAGCCCAGGCCTCTACGTTGCTCTTCTGAACAACTGTATCAGCCTCTTCCACGGTCTTTCTGCTTCCAGTGTCTCCCCTCATTCCAGGACATCTTCTACAATGCAGAAACTGTAAGTTTTGCAAGTTCCCACCACTGCTAACCACTTGAGTCCTGGATCAATGTGTCCCTTCCTGGCTTAAAACTCCCTAATGGCTTCCCACTGCCCTTAAGATAAAATCCAATTTCTCAGTATATATTCAAGGCCCTTTATAATCAGGATGCAAACCATTTTTCCAGCCTAAATCCCTGTCCCCTCCCAGCTCCCCCTCCAGCCTCACCAGTTTCTCATTAACCTCCAAACATCTCACACTTTCATGGCCCGGTGCCTTGGCTTGAGGTTGTCCCTTTTGTATGGAACACTCTTCCTCCTTTCCACCTGGGAAATTCCTACCCACCTCTTAAGACAAAGATTAAAAAAATCCTCTCCTCTGGAGAGGCAGACATGACCCCTGACCTCAAGGAGTTTCAAACTAGAAAGGAAAACAGACATGTATTCTCTCCAGTCTCCTAATATGACCCTACTCTACTTCCCAACAATCTACCCACAGGCACCTCAGGTAAAACTTGTCCAAACCCTTCAATGCTGGTTAATCAGATTCCCCTGTGCTCCCGGACTTGGTCACAGGGTCTTAGGGGACACTGTCCAACATGTGGCCTGTGTCAGTTCCAATAGTTTCCCCCATGCCCGGGACTGTGCCCAGAGTAAGTGCCAATGAGCACTGGCCACAGCCTGCTAGTCCCTCTCATTGAGGAGCCCTGCAAAGGGAGATCCACCTACCTCCACCCTCTCTCTGGGGCTTTAGCACAAACCGGCTAGGGGCAGCAAGGGCCTCGGCGATGGCCTGGTCCCCTTCTTCACCCTGGCAGGAGGCAGAAAGCAGTTATCAAAAGTTTAAAGGCTAAAGAGGCAAGAAGCTTAGGTCCAGCTGGTTATGCAGAGCAGCATCAGAGGAAGAGCAGGAGGGAGAACAGCCACAAATTCCTTCAGGCAGGATGCTACTATCTGGATGACACTCCCAACAAACCCCCTGCAGCAGCCGATGCAATGAGAACAGGCCTTTCTTTAGCAACAGCTCAGGGCTCTGCAGCAGGCAGCCTGATACACTTCTCAATTCTTGCCACCTGCCTTAGTCCCTTCCCTCTGGTTGCCATCCTCATCTCTACCTTTGCTGAGGGAGCTTACAATGGATTCCAGCCCCCATCCTTCCATTATGAGGCTGCCCTTCTGCTCAGAGTTCTAGGGGTTCTCCAGAGCATCACCAACCTTGCCAGCTCCACCTTCCCCTTGTCACAATGCCAGCTCCACCCTCCCCAACACATTGGGCTGTAGGTCTCTGCCACCTAGGAGGCCTGTGGTAGGAGAAACAGGCTGCCCACGTACCACATCCAGTGAGTAGAGGCCAGCAAAGGTGGCGCGGAGGCGGGCCACAGCCTCAGGCTGGCCAGGGAGCAACATCTCCAGCATGCCCGGCCTGCTTAGCTCCTGCTGCACCTTCTTAGTCCCAGCCAGCTGGGTGGCAATGTCTGGGCACTTGGCAGCATGTGACCTCTCCAGCAGTAGACATGCTTCCCAATTCTGCAGAGGGAAGAAGACAAAAGGAATTCGACTTTATTTTACTTCAGCTGACGTTTACTGAACATCCATCCATTAGGTGCCAGGTATCATGATTTGTATCTTCACCCTCATTATCACCCAGGATCATTCTAACATCCTTGTGAGCCAGGTGTGATATGTTGTAGTTATGTATCATTGTGCCAGACTGTGAGCCCCTGCAAAGGCAAGAATCCCCCAATCTGTGGGAAACAATAGAAGGTGTAAGGGTAGAACATTTGTCTACGTGCTCAGCTTCCCACTGTGTTCCATACTCCCTACCATGGCCTTCAAGATCCTTCAGGAGCTGGCTCCTGTCTACTTTTTCAACCTTGTACCATCCCTGACTCCTAGTCTCTGCCATTCTACTCACACAGGCCTGTCATTCCTCAAATCACAAAGCTCTTTCCCTCCTCAGGGCCTGCACTGCTTTTCCCTCAACCTGAAACCCCCTTCCTTTCGGCTTTTCCCATGCATAGCTGGATCCTTACCATCCTTACATCTCAGCTCAATGTCACCTTTTCAGAGAAGGCTTCCCTGTCCACTCTATTTAATGTGGATTTCCCATAATTCTCTTTTTACCCAGTTGTTTCATTGAAAGCAGTTACCTGAGACTAAAACACACACATGCACACATACACGCACACGCACACAAACATACACACACAAATCCCAATTTTTTTTTCCTATTTTTGTTTACTTTTTTTTTCTTTTGAGACGTGGGTCTTGCTCTGTCACCCAGACTGGAGTGCAACAGCGCAATCTTGGCTCACTGCAACTTCTACCTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTATTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCATGCAATCCACCTACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTACGAGCCACAGTAAATGGCCATATTTTTGTTTACTTTCTGATGCCCATTTCTCTGACCAGACTGTGAGCTCCATAGCACAGGGCTCTTATCATTTTCCTCATTTTCTGTTGTATCTCCAGTGTCTAACACAGTTCCTGGCACTTTGTAGTTGCTCAATAAATATTTGTTGTTGTTGCTGAATAAGTTGAAATTTGAGTGGGGTTCTGAAGGACAGGTAGAGCCTGACAAGTGAGACTCAATAGGGAAGGGATACTCAGGCTAAGAGAATAATATGAACACAGGTCTCAAGTGGATGATCACAGGATGAATGGTTTATTACCACAAGAGCTGAGGGTATAAAAGGCAAGGAAACAGCAGGGGATCATGCCTCCCAACTCTGGTTCCCATTCTCATGCAATGGGGAGACAGTCTGTCCTTGGCTCCAGACCACTGCAAACTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAA |
Task1_train_27828 | The gene GSS (glutathione synthetase) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | CTGGCCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGTGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAATTGTTAACTTCCAAATATTTAATGCAGGCTCCCTGCTTAGACATCATATGACTGGCCCCCAAACAAACTCAACTTGTCCAAGCAGAACTTATTACTTCTGCCTGAACCTGCCCCTCCTGGACCTTCCTACTCCCAATCAGGCAAAAGGTACCCCTGAGTCATATTTAACTCCTCCCTTCCACTACCCTCTCACTATCTAGGACATGTCTCTCCAGTTGGCCCCATAGTCATAGCCCTAGCCCAGGCCTCTACGTTGCTCTTCTGAACAACTGTATCAGCCTCTTCCACGGTCTTTCTGCTTCCAGTGTCTCCCCTCATTCCAGGACATCTTCTACAATGCAGAAACTGTAAGTTTTGCAAGTTCCCACCACTGCTAACCACTTGAGTCCTGGATCAATGTGTCCCTTCCTGGCTTAAAACTCCCTAATGGCTTCCCACTGCCCTTAAGATAAAATCCAATTTCTCAGTATATATTCAAGGCCCTTTATAATCAGGATGCAAACCATTTTTCCAGCCTAAATCCCTGTCCCCTCCCAGCTCCCCCTCCAGCCTCACCAGTTTCTCATTAACCTCCAAACATCTCACACTTTCATGGCCCGGTGCCTTGGCTTGAGGTTGTCCCTTTTGTATGGAACACTCTTCCTCCTTTCCACCTGGGAAATTCCTACCCACCTCTTAAGACAAAGATTAAAAAAATCCTCTCCTCTGGAGAGGCAGACATGACCCCTGACCTCAAGGAGTTTCAAACTAGAAAGGAAAACAGACATGTATTCTCTCCAGTCTCCTAATATGACCCTACTCTACTTCCCAACAATCTACCCACAGGCACCTCAGGTAAAACTTGTCCAAACCCTTCAATGCTGGTTAATCAGATTCCCCTGTGCTCCCGGACTTGGTCACAGGGTCTTAGGGGACACTGTCCAACATGTGGCCTGTGTCAGTTCCAATAGTTTCCCCCATGCCCGGGACTGTGCCCAGAGTAAGTGCCAATGAGCACTGGCCACAGCCTGCTAGTCCCTCTCATTGAGGAGCCCTGCAAAGGGAGATCCACCTACCTCCACCCTCTCTCTGGGGCTTTAGCACAAACCGGCTAGGGGCAGCAAGGGCCTCGGCGATGGCCTGGTCCCCTTCTTCACCCTGGCAGGAGGCAGAAAGCAGTTATCAAAAGTTTAAAGGCTAAAGAGGCAAGAAGCTTAGGTCCAGCTGGTTATGCAGAGCAGCATCAGAGGAAGAGCAGGAGGGAGAACAGCCACAAATTCCTTCAGGCAGGATGCTACTATCTGGATGACACTCCCAACAAACCCCCTGCAGCAGCCGATGCAATGAGAACAGGCCTTTCTTTAGCAACAGCTCAGGGCTCTGCAGCAGGCAGCCTGATACACTTCTCAATTCTTGCCACCTGCCTTAGTCCCTTCCCTCTGGTTGCCATCCTCATCTCTACCTTTGCTGAGGGAGCTTACAATGGATTCCAGCCCCCATCCTTCCATTATGAGGCTGCCCTTCTGCTCAGAGTTCTAGGGGTTCTCCAGAGCATCACCAACCTTGCCAGCTCCACCTTCCCCTTGTCACAATGCCAGCTCCACCCTCCCCAACACATTGGGCTGTAGGTCTCTGCCACCTAGGAGGCCTGTGGTAGGAGAAACAGGCTGCCCACGTACCACATCCAGTGAGTAGAGGCCAGCAAAGGTGGCGCGGAGGCGGGCCACAGCCTCAGGCTGGCCAGGGAGCAACATCTCCAGCATGCCCGGCCTGCTTAGCTCCTGCTGCACCTTCTTAGTCCCAGCCAGCTGGGTGGCAATGTCTGGGCACTTGGCAGCATGTGACCTCTCCAGCAGTAGACGTGCTTCCCAATTCTGCAGAGGGAAGAAGACAAAAGGAATTCGACTTTATTTTACTTCAGCTGACGTTTACTGAACATCCATCCATTAGGTGCCAGGTATCATGATTTGTATCTTCACCCTCATTATCACCCAGGATCATTCTAACATCCTTGTGAGCCAGGTGTGATATGTTGTAGTTATGTATCATTGTGCCAGACTGTGAGCCCCTGCAAAGGCAAGAATCCCCCAATCTGTGGGAAACAATAGAAGGTGTAAGGGTAGAACATTTGTCTACGTGCTCAGCTTCCCACTGTGTTCCATACTCCCTACCATGGCCTTCAAGATCCTTCAGGAGCTGGCTCCTGTCTACTTTTTCAACCTTGTACCATCCCTGACTCCTAGTCTCTGCCATTCTACTCACACAGGCCTGTCATTCCTCAAATCACAAAGCTCTTTCCCTCCTCAGGGCCTGCACTGCTTTTCCCTCAACCTGAAACCCCCTTCCTTTCGGCTTTTCCCATGCATAGCTGGATCCTTACCATCCTTACATCTCAGCTCAATGTCACCTTTTCAGAGAAGGCTTCCCTGTCCACTCTATTTAATGTGGATTTCCCATAATTCTCTTTTTACCCAGTTGTTTCATTGAAAGCAGTTACCTGAGACTAAAACACACACATGCACACATACACGCACACGCACACAAACATACACACACAAATCCCAATTTTTTTTTCCTATTTTTGTTTACTTTTTTTTTCTTTTGAGACGTGGGTCTTGCTCTGTCACCCAGACTGGAGTGCAACAGCGCAATCTTGGCTCACTGCAACTTCTACCTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTATTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCATGCAATCCACCTACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTACGAGCCACAGTAAATGGCCATATTTTTGTTTACTTTCTGATGCCCATTTCTCTGACCAGACTGTGAGCTCCATAGCACAGGGCTCTTATCATTTTCCTCATTTTCTGTTGTATCTCCAGTGTCTAACACAGTTCCTGGCACTTTGTAGTTGCTCAATAAATATTTGTTGTTGTTGCTGAATAAGTTGAAATTTGAGTGGGGTTCTGAAGGACAGGTAGAGCCTGACAAGTGAGACTCAATAGGGAAGGGATACTCAGGCTAAGAGAATAATATGAACACAGGTCTCAAGTGGATGATCACAGGATGAATGGTTTATTACCACAAGAGCTGAGGGTATAAAAGGCAAGGAAACAGCAGGGGATCATGCCTCCCAACTCTGGTTCCCATTCTCATGCAATGGGGAGACAGTCTGTCCTTGGCTCCAGACCACTGCAAACTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAA | CTGGCCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGTGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAATTGTTAACTTCCAAATATTTAATGCAGGCTCCCTGCTTAGACATCATATGACTGGCCCCCAAACAAACTCAACTTGTCCAAGCAGAACTTATTACTTCTGCCTGAACCTGCCCCTCCTGGACCTTCCTACTCCCAATCAGGCAAAAGGTACCCCTGAGTCATATTTAACTCCTCCCTTCCACTACCCTCTCACTATCTAGGACATGTCTCTCCAGTTGGCCCCATAGTCATAGCCCTAGCCCAGGCCTCTACGTTGCTCTTCTGAACAACTGTATCAGCCTCTTCCACGGTCTTTCTGCTTCCAGTGTCTCCCCTCATTCCAGGACATCTTCTACAATGCAGAAACTGTAAGTTTTGCAAGTTCCCACCACTGCTAACCACTTGAGTCCTGGATCAATGTGTCCCTTCCTGGCTTAAAACTCCCTAATGGCTTCCCACTGCCCTTAAGATAAAATCCAATTTCTCAGTATATATTCAAGGCCCTTTATAATCAGGATGCAAACCATTTTTCCAGCCTAAATCCCTGTCCCCTCCCAGCTCCCCCTCCAGCCTCACCAGTTTCTCATTAACCTCCAAACATCTCACACTTTCATGGCCCGGTGCCTTGGCTTGAGGTTGTCCCTTTTGTATGGAACACTCTTCCTCCTTTCCACCTGGGAAATTCCTACCCACCTCTTAAGACAAAGATTAAAAAAATCCTCTCCTCTGGAGAGGCAGACATGACCCCTGACCTCAAGGAGTTTCAAACTAGAAAGGAAAACAGACATGTATTCTCTCCAGTCTCCTAATATGACCCTACTCTACTTCCCAACAATCTACCCACAGGCACCTCAGGTAAAACTTGTCCAAACCCTTCAATGCTGGTTAATCAGATTCCCCTGTGCTCCCGGACTTGGTCACAGGGTCTTAGGGGACACTGTCCAACATGTGGCCTGTGTCAGTTCCAATAGTTTCCCCCATGCCCGGGACTGTGCCCAGAGTAAGTGCCAATGAGCACTGGCCACAGCCTGCTAGTCCCTCTCATTGAGGAGCCCTGCAAAGGGAGATCCACCTACCTCCACCCTCTCTCTGGGGCTTTAGCACAAACCGGCTAGGGGCAGCAAGGGCCTCGGCGATGGCCTGGTCCCCTTCTTCACCCTGGCAGGAGGCAGAAAGCAGTTATCAAAAGTTTAAAGGCTAAAGAGGCAAGAAGCTTAGGTCCAGCTGGTTATGCAGAGCAGCATCAGAGGAAGAGCAGGAGGGAGAACAGCCACAAATTCCTTCAGGCAGGATGCTACTATCTGGATGACACTCCCAACAAACCCCCTGCAGCAGCCGATGCAATGAGAACAGGCCTTTCTTTAGCAACAGCTCAGGGCTCTGCAGCAGGCAGCCTGATACACTTCTCAATTCTTGCCACCTGCCTTAGTCCCTTCCCTCTGGTTGCCATCCTCATCTCTACCTTTGCTGAGGGAGCTTACAATGGATTCCAGCCCCCATCCTTCCATTATGAGGCTGCCCTTCTGCTCAGAGTTCTAGGGGTTCTCCAGAGCATCACCAACCTTGCCAGCTCCACCTTCCCCTTGTCACAATGCCAGCTCCACCCTCCCCAACACATTGGGCTGTAGGTCTCTGCCACCTAGGAGGCCTGTGGTAGGAGAAACAGGCTGCCCACGTACCACATCCAGTGAGTAGAGGCCAGCAAAGGTGGCGCGGAGGCGGGCCACAGCCTCAGGCTGGCCAGGGAGCAACATCTCCAGCATGCCCGGCCTGCTTAGCTCCTGCTGCACCTTCTTAGTCCCAGCCAGCTGGGTGGCAATGTCTGGGCACTTGGCAGCATGTGACCTCTCCAGCAGTAGACATGCTTCCCAATTCTGCAGAGGGAAGAAGACAAAAGGAATTCGACTTTATTTTACTTCAGCTGACGTTTACTGAACATCCATCCATTAGGTGCCAGGTATCATGATTTGTATCTTCACCCTCATTATCACCCAGGATCATTCTAACATCCTTGTGAGCCAGGTGTGATATGTTGTAGTTATGTATCATTGTGCCAGACTGTGAGCCCCTGCAAAGGCAAGAATCCCCCAATCTGTGGGAAACAATAGAAGGTGTAAGGGTAGAACATTTGTCTACGTGCTCAGCTTCCCACTGTGTTCCATACTCCCTACCATGGCCTTCAAGATCCTTCAGGAGCTGGCTCCTGTCTACTTTTTCAACCTTGTACCATCCCTGACTCCTAGTCTCTGCCATTCTACTCACACAGGCCTGTCATTCCTCAAATCACAAAGCTCTTTCCCTCCTCAGGGCCTGCACTGCTTTTCCCTCAACCTGAAACCCCCTTCCTTTCGGCTTTTCCCATGCATAGCTGGATCCTTACCATCCTTACATCTCAGCTCAATGTCACCTTTTCAGAGAAGGCTTCCCTGTCCACTCTATTTAATGTGGATTTCCCATAATTCTCTTTTTACCCAGTTGTTTCATTGAAAGCAGTTACCTGAGACTAAAACACACACATGCACACATACACGCACACGCACACAAACATACACACACAAATCCCAATTTTTTTTTCCTATTTTTGTTTACTTTTTTTTTCTTTTGAGACGTGGGTCTTGCTCTGTCACCCAGACTGGAGTGCAACAGCGCAATCTTGGCTCACTGCAACTTCTACCTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCCAGCTAATTTTTGTATTATTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCATGCAATCCACCTACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTACGAGCCACAGTAAATGGCCATATTTTTGTTTACTTTCTGATGCCCATTTCTCTGACCAGACTGTGAGCTCCATAGCACAGGGCTCTTATCATTTTCCTCATTTTCTGTTGTATCTCCAGTGTCTAACACAGTTCCTGGCACTTTGTAGTTGCTCAATAAATATTTGTTGTTGTTGCTGAATAAGTTGAAATTTGAGTGGGGTTCTGAAGGACAGGTAGAGCCTGACAAGTGAGACTCAATAGGGAAGGGATACTCAGGCTAAGAGAATAATATGAACACAGGTCTCAAGTGGATGATCACAGGATGAATGGTTTATTACCACAAGAGCTGAGGGTATAAAAGGCAAGGAAACAGCAGGGGATCATGCCTCCCAACTCTGGTTCCCATTCTCATGCAATGGGGAGACAGTCTGTCCTTGGCTCCAGACCACTGCAAACTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAA |
Task1_train_27829 | This variant affects gene GSS (glutathione synthetase) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCTACCTCTTTAAACACTACTTTCCTTCCTTGTTATCTCAAACTCTTCTAAGTTTTCTTTGTCGTGTTTTGAAATCTAGACCCATTTCTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCATGATCTCAACTTACTGCAACCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCGTCCTGAGTAGCTGGGATTACAGGGGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCCGGCCTAGACCTATTTTTCTAATAGACAGTTTATCTCTCCTGTAGTCAGCAAGTTGCCACCACTGCTAACCACCTATCTAAAGAAAAGGATGTTCTATCGAGATACCACCTCTATAGAGCCTCCTCATGTGGAGCTCAACCCTCGGGGGGAGTCCTAGATGAATTACAGACCTAGAAGGAGCCCCCTCAGTTTTCTAGTGTAGCTCCCCCCGCTCATAGAAACAGACCTAGAAAGGGTCAGGAACTTGCCCATCATCACACAGAGGCAGTCAAGCTCATGACCTCCAGCTCACTGCCCATGGTATTTCTAAACTTATTTCCTCCTTTATCATCTCCCAGCTGAGAGCAGAGCTTCTTAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGT | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCTACCTCTTTAAACACTACTTTCCTTCCTTGTTATCTCAAACTCTTCTAAGTTTTCTTTGTCGTGTTTTGAAATCTAGACCCATTTCTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCATGATCTCAACTTACTGCAACCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCGTCCTGAGTAGCTGGGATTACAGGGGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCCGGCCTAGACCTATTTTTCTAATAGACAGTTTATCTCTCCTGTAGTCAGCAAGTTGCCACCACTGCTAACCACCTATCTAAAGAAAAGGATGTTCTATCGAGATACCACCTCTATAGAGCCTCCTCATGTGGAGCTCAACCCTCGGGGGGAGTCCTAGATGAATTACAGACCTAGAAGGAGCCCCCTCAGTTTTCTAGTGTAGCTCCCCCCGCTCATAGAAACAGACCTAGAAAGGGTCAGGAACTTGCCCATCATCACACAGAGGCAGTCAAGCTCATGACCTCCAGCTCACTGCCCATGGTATTTCTAAACTTATTTCCTCCTTTATCATCTCCCAGCTGAGAGCAGAGCTTCTTAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCAGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGT |
Task1_train_27830 | A genetic alteration is present in GSS (glutathione synthetase) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCTACCTCTTTAAACACTACTTTCCTTCCTTGTTATCTCAAACTCTTCTAAGTTTTCTTTGTCGTGTTTTGAAATCTAGACCCATTTCTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCATGATCTCAACTTACTGCAACCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCGTCCTGAGTAGCTGGGATTACAGGGGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCCGGCCTAGACCTATTTTTCTAATAGACAGTTTATCTCTCCTGTAGTCAGCAAGTTGCCACCACTGCTAACCACCTATCTAAAGAAAAGGATGTTCTATCGAGATACCACCTCTATAGAGCCTCCTCATGTGGAGCTCAACCCTCGGGGGGAGTCCTAGATGAATTACAGACCTAGAAGGAGCCCCCTCAGTTTTCTAGTGTAGCTCCCCCCGCTCATAGAAACAGACCTAGAAAGGGTCAGGAACTTGCCCATCATCACACAGAGGCAGTCAAGCTCATGACCTCCAGCTCACTGCCCATGGTATTTCTAAACTTATTTCCTCCTTTATCATCTCCCAGCTGAGAGCAGAGCTTCTTAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGT | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCTACCTCTTTAAACACTACTTTCCTTCCTTGTTATCTCAAACTCTTCTAAGTTTTCTTTGTCGTGTTTTGAAATCTAGACCCATTTCTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCATGATCTCAACTTACTGCAACCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCGTCCTGAGTAGCTGGGATTACAGGGGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCCGGCCTAGACCTATTTTTCTAATAGACAGTTTATCTCTCCTGTAGTCAGCAAGTTGCCACCACTGCTAACCACCTATCTAAAGAAAAGGATGTTCTATCGAGATACCACCTCTATAGAGCCTCCTCATGTGGAGCTCAACCCTCGGGGGGAGTCCTAGATGAATTACAGACCTAGAAGGAGCCCCCTCAGTTTTCTAGTGTAGCTCCCCCCGCTCATAGAAACAGACCTAGAAAGGGTCAGGAACTTGCCCATCATCACACAGAGGCAGTCAAGCTCATGACCTCCAGCTCACTGCCCATGGTATTTCTAAACTTATTTCCTCCTTTATCATCTCCCAGCTGAGAGCAGAGCTTCTTAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCAGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGT |
Task1_train_27831 | This mutation is located in gene GSS (glutathione synthetase) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Glutathione synthetase deficiency without 5-oxoprolinuria | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCTACCTCTTTAAACACTACTTTCCTTCCTTGTTATCTCAAACTCTTCTAAGTTTTCTTTGTCGTGTTTTGAAATCTAGACCCATTTCTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCATGATCTCAACTTACTGCAACCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCGTCCTGAGTAGCTGGGATTACAGGGGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCCGGCCTAGACCTATTTTTCTAATAGACAGTTTATCTCTCCTGTAGTCAGCAAGTTGCCACCACTGCTAACCACCTATCTAAAGAAAAGGATGTTCTATCGAGATACCACCTCTATAGAGCCTCCTCATGTGGAGCTCAACCCTCGGGGGGAGTCCTAGATGAATTACAGACCTAGAAGGAGCCCCCTCAGTTTTCTAGTGTAGCTCCCCCCGCTCATAGAAACAGACCTAGAAAGGGTCAGGAACTTGCCCATCATCACACAGAGGCAGTCAAGCTCATGACCTCCAGCTCACTGCCCATGGTATTTCTAAACTTATTTCCTCCTTTATCATCTCCCAGCTGAGAGCAGAGCTTCTTAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGT | CTGCACACAGCAGGATCAGGTCTCTCCTGTGACCCCCACCCAATGCTGTCCTTCCTTTGATACTACTGGTCCACCTGTAGCACCTTGACCTGATCTTCATCAATAACCCCAGGAACCCAACTACTAGTCTGGCATTCCACGCAGAATCACACGTGACCAGAACATCAGAAATAAACCCAGAGAAATACCCCATTATGGTAGAAGCAGGAAAGCAAAACCAAAGATAAGCAAGGACTTGCCCAGGGTCATCTAGTAAGTCACTAAGCCTTCTAGATCTCTCTCCATGTCTAAACCTGCTCTGAGCTGCTCAGTTCCCTAAAAATGTCTACCTCTTGGCCAGGTGTGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCGTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAAACTGGAAGTCAAAGGTTGCAGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGTCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCTACCTCTTTAAACACTACTTTCCTTCCTTGTTATCTCAAACTCTTCTAAGTTTTCTTTGTCGTGTTTTGAAATCTAGACCCATTTCTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCATGATCTCAACTTACTGCAACCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCGTCCTGAGTAGCTGGGATTACAGGGGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCCGGCCTAGACCTATTTTTCTAATAGACAGTTTATCTCTCCTGTAGTCAGCAAGTTGCCACCACTGCTAACCACCTATCTAAAGAAAAGGATGTTCTATCGAGATACCACCTCTATAGAGCCTCCTCATGTGGAGCTCAACCCTCGGGGGGAGTCCTAGATGAATTACAGACCTAGAAGGAGCCCCCTCAGTTTTCTAGTGTAGCTCCCCCCGCTCATAGAAACAGACCTAGAAAGGGTCAGGAACTTGCCCATCATCACACAGAGGCAGTCAAGCTCATGACCTCCAGCTCACTGCCCATGGTATTTCTAAACTTATTTCCTCCTTTATCATCTCCCAGCTGAGAGCAGAGCTTCTTAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCAGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGT |
Task1_train_27832 | Gene GSS (glutathione synthetase) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGTGGCTTCTTCCTCTCTGATTATTCATGTATTTCTTAAAGAGGCAGGGGCTTGAGGGCTCAGGGAAAAGCTTATGCCAGGGAACTATCTGTTTGGCTGCCAGCTAACATATTTCCGTTGTCAAAGATAGGTCCAGTCCCCTAAGAGATTCCTAGGGCTAATGCTCAGCAGTACCAAACTGCATTTTTTTTCTTTTACATTTTATTTTATTTATTTTTTTGAGACGGAGTCTCCCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTCCACCCCCTGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCCGGGTAGCTGGGATTTCAGGTGTGCACCACCCCCGCCGGCTAATTTTTGTAGTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGCATTACAGGTGTGAGCCACTGCGCTCAGCCTCCAAACTCCATTTTTGCTGTGACTGTACTGCTTTGTGTCTGTGGCTTCTTCCTGAGACCCATGGAACCCTAGGCTTTGGCTTAGGATTCTAAGTGTGTATTCCCTGACCTCCTCTGCTTAGCCTCTCTTGTCTATCTCTGCTTCTCCTGACCTTGGCTGAACCTCTTAGTCTAAACTCTGTTTGCCTGACTCCTTTCTGCTTAGCCAAAATATAGGTCTTAGTAAGTCCCCTCTCCTGGTTTGCCTGAAATCTCATGAGGTCAGATGTGATGTTAAGCTGAGTCTTGGCTTTGAGTTGGGTGCCTGAGAGACAAACTAAAAGTGGTGCTCTCACAAGTCATCTTGCCCTGAGAGAGTCCTAAGGGCCAATGGCTTTGCTCTTCACTTTGCAGCCTAAACTGTCCCGCTCATGGGTGAGGGTGTGTGTGGGAGGGAGGCAGTTGGCCCAGGCTGGCCCACCTCCAAAAAGAGGCGGAGGAGGAAGGCTGGCAGCTGGAGGTTAAAGAGGAACTGCACGCCCCAGCTAATTAAGTCAGCCTGCCAACTGCTAAACAATCAGAGCTGGGCTCAGAAAACATATTTGACCTCTCCTGCCTTCAGTTCTGAGCAGTTCTCAGCAGTCTGTTTCCTAGTAGGAAAGTTGTCAGCTAAGGACGCATGCGGGCTGGGGGTGAGGACCCCTGAGTCGTAGGTAGTCCAGGCTCTGCCAGTGACTTGTAGTGTGTCTTGGTAATTGACTTGGGTAAGGCAATTTCGTTCCTTGGGCCCTGGTTTTCCCATCTATAAAATAAGAGTGTTATGGCTGGGCATGGTAGCTCACGCCTATAGTCCCAGCACTTTAAGAGGCCGAGGCGGGCGGATTGCC | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGCCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGTGGCTTCTTCCTCTCTGATTATTCATGTATTTCTTAAAGAGGCAGGGGCTTGAGGGCTCAGGGAAAAGCTTATGCCAGGGAACTATCTGTTTGGCTGCCAGCTAACATATTTCCGTTGTCAAAGATAGGTCCAGTCCCCTAAGAGATTCCTAGGGCTAATGCTCAGCAGTACCAAACTGCATTTTTTTTCTTTTACATTTTATTTTATTTATTTTTTTGAGACGGAGTCTCCCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTCCACCCCCTGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCCGGGTAGCTGGGATTTCAGGTGTGCACCACCCCCGCCGGCTAATTTTTGTAGTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGCATTACAGGTGTGAGCCACTGCGCTCAGCCTCCAAACTCCATTTTTGCTGTGACTGTACTGCTTTGTGTCTGTGGCTTCTTCCTGAGACCCATGGAACCCTAGGCTTTGGCTTAGGATTCTAAGTGTGTATTCCCTGACCTCCTCTGCTTAGCCTCTCTTGTCTATCTCTGCTTCTCCTGACCTTGGCTGAACCTCTTAGTCTAAACTCTGTTTGCCTGACTCCTTTCTGCTTAGCCAAAATATAGGTCTTAGTAAGTCCCCTCTCCTGGTTTGCCTGAAATCTCATGAGGTCAGATGTGATGTTAAGCTGAGTCTTGGCTTTGAGTTGGGTGCCTGAGAGACAAACTAAAAGTGGTGCTCTCACAAGTCATCTTGCCCTGAGAGAGTCCTAAGGGCCAATGGCTTTGCTCTTCACTTTGCAGCCTAAACTGTCCCGCTCATGGGTGAGGGTGTGTGTGGGAGGGAGGCAGTTGGCCCAGGCTGGCCCACCTCCAAAAAGAGGCGGAGGAGGAAGGCTGGCAGCTGGAGGTTAAAGAGGAACTGCACGCCCCAGCTAATTAAGTCAGCCTGCCAACTGCTAAACAATCAGAGCTGGGCTCAGAAAACATATTTGACCTCTCCTGCCTTCAGTTCTGAGCAGTTCTCAGCAGTCTGTTTCCTAGTAGGAAAGTTGTCAGCTAAGGACGCATGCGGGCTGGGGGTGAGGACCCCTGAGTCGTAGGTAGTCCAGGCTCTGCCAGTGACTTGTAGTGTGTCTTGGTAATTGACTTGGGTAAGGCAATTTCGTTCCTTGGGCCCTGGTTTTCCCATCTATAAAATAAGAGTGTTATGGCTGGGCATGGTAGCTCACGCCTATAGTCCCAGCACTTTAAGAGGCCGAGGCGGGCGGATTGCC |
Task1_train_27833 | Gene GSS (glutathione synthetase) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Glutathione synthetase deficiency without 5-oxoprolinuria | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGTGGCTTCTTCCTCTCTGATTATTCATGTATTTCTTAAAGAGGCAGGGGCTTGAGGGCTCAGGGAAAAGCTTATGCCAGGGAACTATCTGTTTGGCTGCCAGCTAACATATTTCCGTTGTCAAAGATAGGTCCAGTCCCCTAAGAGATTCCTAGGGCTAATGCTCAGCAGTACCAAACTGCATTTTTTTTCTTTTACATTTTATTTTATTTATTTTTTTGAGACGGAGTCTCCCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTCCACCCCCTGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCCGGGTAGCTGGGATTTCAGGTGTGCACCACCCCCGCCGGCTAATTTTTGTAGTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGCATTACAGGTGTGAGCCACTGCGCTCAGCCTCCAAACTCCATTTTTGCTGTGACTGTACTGCTTTGTGTCTGTGGCTTCTTCCTGAGACCCATGGAACCCTAGGCTTTGGCTTAGGATTCTAAGTGTGTATTCCCTGACCTCCTCTGCTTAGCCTCTCTTGTCTATCTCTGCTTCTCCTGACCTTGGCTGAACCTCTTAGTCTAAACTCTGTTTGCCTGACTCCTTTCTGCTTAGCCAAAATATAGGTCTTAGTAAGTCCCCTCTCCTGGTTTGCCTGAAATCTCATGAGGTCAGATGTGATGTTAAGCTGAGTCTTGGCTTTGAGTTGGGTGCCTGAGAGACAAACTAAAAGTGGTGCTCTCACAAGTCATCTTGCCCTGAGAGAGTCCTAAGGGCCAATGGCTTTGCTCTTCACTTTGCAGCCTAAACTGTCCCGCTCATGGGTGAGGGTGTGTGTGGGAGGGAGGCAGTTGGCCCAGGCTGGCCCACCTCCAAAAAGAGGCGGAGGAGGAAGGCTGGCAGCTGGAGGTTAAAGAGGAACTGCACGCCCCAGCTAATTAAGTCAGCCTGCCAACTGCTAAACAATCAGAGCTGGGCTCAGAAAACATATTTGACCTCTCCTGCCTTCAGTTCTGAGCAGTTCTCAGCAGTCTGTTTCCTAGTAGGAAAGTTGTCAGCTAAGGACGCATGCGGGCTGGGGGTGAGGACCCCTGAGTCGTAGGTAGTCCAGGCTCTGCCAGTGACTTGTAGTGTGTCTTGGTAATTGACTTGGGTAAGGCAATTTCGTTCCTTGGGCCCTGGTTTTCCCATCTATAAAATAAGAGTGTTATGGCTGGGCATGGTAGCTCACGCCTATAGTCCCAGCACTTTAAGAGGCCGAGGCGGGCGGATTGCC | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGCCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGTGGCTTCTTCCTCTCTGATTATTCATGTATTTCTTAAAGAGGCAGGGGCTTGAGGGCTCAGGGAAAAGCTTATGCCAGGGAACTATCTGTTTGGCTGCCAGCTAACATATTTCCGTTGTCAAAGATAGGTCCAGTCCCCTAAGAGATTCCTAGGGCTAATGCTCAGCAGTACCAAACTGCATTTTTTTTCTTTTACATTTTATTTTATTTATTTTTTTGAGACGGAGTCTCCCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTCCACCCCCTGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCCGGGTAGCTGGGATTTCAGGTGTGCACCACCCCCGCCGGCTAATTTTTGTAGTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGCATTACAGGTGTGAGCCACTGCGCTCAGCCTCCAAACTCCATTTTTGCTGTGACTGTACTGCTTTGTGTCTGTGGCTTCTTCCTGAGACCCATGGAACCCTAGGCTTTGGCTTAGGATTCTAAGTGTGTATTCCCTGACCTCCTCTGCTTAGCCTCTCTTGTCTATCTCTGCTTCTCCTGACCTTGGCTGAACCTCTTAGTCTAAACTCTGTTTGCCTGACTCCTTTCTGCTTAGCCAAAATATAGGTCTTAGTAAGTCCCCTCTCCTGGTTTGCCTGAAATCTCATGAGGTCAGATGTGATGTTAAGCTGAGTCTTGGCTTTGAGTTGGGTGCCTGAGAGACAAACTAAAAGTGGTGCTCTCACAAGTCATCTTGCCCTGAGAGAGTCCTAAGGGCCAATGGCTTTGCTCTTCACTTTGCAGCCTAAACTGTCCCGCTCATGGGTGAGGGTGTGTGTGGGAGGGAGGCAGTTGGCCCAGGCTGGCCCACCTCCAAAAAGAGGCGGAGGAGGAAGGCTGGCAGCTGGAGGTTAAAGAGGAACTGCACGCCCCAGCTAATTAAGTCAGCCTGCCAACTGCTAAACAATCAGAGCTGGGCTCAGAAAACATATTTGACCTCTCCTGCCTTCAGTTCTGAGCAGTTCTCAGCAGTCTGTTTCCTAGTAGGAAAGTTGTCAGCTAAGGACGCATGCGGGCTGGGGGTGAGGACCCCTGAGTCGTAGGTAGTCCAGGCTCTGCCAGTGACTTGTAGTGTGTCTTGGTAATTGACTTGGGTAAGGCAATTTCGTTCCTTGGGCCCTGGTTTTCCCATCTATAAAATAAGAGTGTTATGGCTGGGCATGGTAGCTCACGCCTATAGTCCCAGCACTTTAAGAGGCCGAGGCGGGCGGATTGCC |
Task1_train_27834 | Consider this mutation in GSS (glutathione synthetase) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Inherited glutathione synthetase deficiency | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGTGGCTTCTTCCTCTCTGATTATTCATGTATTTCTTAAAGAGGCAGGGGCTTGAGGGCTCAGGGAAAAGCTTATGCCAGGGAACTATCTGTTTGGCTGCCAGCTAACATATTTCCGTTGTCAAAGATAGGTCCAGTCCCCTAAGAGATTCCTAGGGCTAATGCTCAGCAGTACCAAACTGCATTTTTTTTCTTTTACATTTTATTTTATTTATTTTTTTGAGACGGAGTCTCCCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTCCACCCCCTGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCCGGGTAGCTGGGATTTCAGGTGTGCACCACCCCCGCCGGCTAATTTTTGTAGTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGCATTACAGGTGTGAGCCACTGCGCTCAGCCTCCAAACTCCATTTTTGCTGTGACTGTACTGCTTTGTGTCTGTGGCTTCTTCCTGAGACCCATGGAACCCTAGGCTTTGGCTTAGGATTCTAAGTGTGTATTCCCTGACCTCCTCTGCTTAGCCTCTCTTGTCTATCTCTGCTTCTCCTGACCTTGGCTGAACCTCTTAGTCTAAACTCTGTTTGCCTGACTCCTTTCTGCTTAGCCAAAATATAGGTCTTAGTAAGTCCCCTCTCCTGGTTTGCCTGAAATCTCATGAGGTCAGATGTGATGTTAAGCTGAGTCTTGGCTTTGAGTTGGGTGCCTGAGAGACAAACTAAAAGTGGTGCTCTCACAAGTCATCTTGCCCTGAGAGAGTCCTAAGGGCCAATGGCTTTGCTCTTCACTTTGCAGCCTAAACTGTCCCGCTCATGGGTGAGGGTGTGTGTGGGAGGGAGGCAGTTGGCCCAGGCTGGCCCACCTCCAAAAAGAGGCGGAGGAGGAAGGCTGGCAGCTGGAGGTTAAAGAGGAACTGCACGCCCCAGCTAATTAAGTCAGCCTGCCAACTGCTAAACAATCAGAGCTGGGCTCAGAAAACATATTTGACCTCTCCTGCCTTCAGTTCTGAGCAGTTCTCAGCAGTCTGTTTCCTAGTAGGAAAGTTGTCAGCTAAGGACGCATGCGGGCTGGGGGTGAGGACCCCTGAGTCGTAGGTAGTCCAGGCTCTGCCAGTGACTTGTAGTGTGTCTTGGTAATTGACTTGGGTAAGGCAATTTCGTTCCTTGGGCCCTGGTTTTCCCATCTATAAAATAAGAGTGTTATGGCTGGGCATGGTAGCTCACGCCTATAGTCCCAGCACTTTAAGAGGCCGAGGCGGGCGGATTGCC | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGCCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGTGGCTTCTTCCTCTCTGATTATTCATGTATTTCTTAAAGAGGCAGGGGCTTGAGGGCTCAGGGAAAAGCTTATGCCAGGGAACTATCTGTTTGGCTGCCAGCTAACATATTTCCGTTGTCAAAGATAGGTCCAGTCCCCTAAGAGATTCCTAGGGCTAATGCTCAGCAGTACCAAACTGCATTTTTTTTCTTTTACATTTTATTTTATTTATTTTTTTGAGACGGAGTCTCCCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTCCACCCCCTGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCCGGGTAGCTGGGATTTCAGGTGTGCACCACCCCCGCCGGCTAATTTTTGTAGTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGCATTACAGGTGTGAGCCACTGCGCTCAGCCTCCAAACTCCATTTTTGCTGTGACTGTACTGCTTTGTGTCTGTGGCTTCTTCCTGAGACCCATGGAACCCTAGGCTTTGGCTTAGGATTCTAAGTGTGTATTCCCTGACCTCCTCTGCTTAGCCTCTCTTGTCTATCTCTGCTTCTCCTGACCTTGGCTGAACCTCTTAGTCTAAACTCTGTTTGCCTGACTCCTTTCTGCTTAGCCAAAATATAGGTCTTAGTAAGTCCCCTCTCCTGGTTTGCCTGAAATCTCATGAGGTCAGATGTGATGTTAAGCTGAGTCTTGGCTTTGAGTTGGGTGCCTGAGAGACAAACTAAAAGTGGTGCTCTCACAAGTCATCTTGCCCTGAGAGAGTCCTAAGGGCCAATGGCTTTGCTCTTCACTTTGCAGCCTAAACTGTCCCGCTCATGGGTGAGGGTGTGTGTGGGAGGGAGGCAGTTGGCCCAGGCTGGCCCACCTCCAAAAAGAGGCGGAGGAGGAAGGCTGGCAGCTGGAGGTTAAAGAGGAACTGCACGCCCCAGCTAATTAAGTCAGCCTGCCAACTGCTAAACAATCAGAGCTGGGCTCAGAAAACATATTTGACCTCTCCTGCCTTCAGTTCTGAGCAGTTCTCAGCAGTCTGTTTCCTAGTAGGAAAGTTGTCAGCTAAGGACGCATGCGGGCTGGGGGTGAGGACCCCTGAGTCGTAGGTAGTCCAGGCTCTGCCAGTGACTTGTAGTGTGTCTTGGTAATTGACTTGGGTAAGGCAATTTCGTTCCTTGGGCCCTGGTTTTCCCATCTATAAAATAAGAGTGTTATGGCTGGGCATGGTAGCTCACGCCTATAGTCCCAGCACTTTAAGAGGCCGAGGCGGGCGGATTGCC |
Task1_train_27835 | A change on Chromosome 20 affects gene GSS (glutathione synthetase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGTCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGTGGCTTCTTCCTCTCTGATTATTCATGTATTTCTTAAAGAGGCAGGGGCTTGAGGGCTCAGGGAAAAGCTTATGCCAGGGAACTATCTGTTTGGCTGCCAGCTAACATATTTCCGTTGTCAAAGATAGGTCCAGTCCCCTAAGAGATTCCTAGGGCTAATGCTCAGCAGTACCAAACTGCATTTTTTTTCTTTTACATTTTATTTTATTTATTTTTTTGAGACGGAGTCTCCCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTCCACCCCCTGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCCGGGTAGCTGGGATTTCAGGTGTGCACCACCCCCGCCGGCTAATTTTTGTAGTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGCATTACAGGTGTGAGCCACTGCGCTCAGCCTCCAAACTCCATTTTTGCTGTGACTGTACTGCTTTGTGTCTGTGGCTTCTTCCTGAGACCCATGGAACCCTAGGCTTTGGCTTAGGATTCTAAGTGTGTATTCCCTGACCTCCTCTGCTTAGCCTCTCTTGTCTATCTCTGCTTCTCCTGACCTTGGCTGAACCTCTTAGTCTAAACTCTGTTTGCCTGACTCCTTTCTGCTTAGCCAAAATATAGGTCTTAGTAAGTCCCCTCTCCTGGTTTGCCTGAAATCTCATGAGGTCAGATGTGATGTTAAGCTGAGTCTTGGCTTTGAGTTGGGTGCCTGAGAGACAAACTAAAAGTGGTGCTCTCACAAGTCATCTTGCCCTGAGAGAGTCCTAAGGGCCAATGGCTTTGCTCTTCACTTTGCAGCCTAAACTGTCCCGCTCATGGGTGAGGGTGTGTGTGGGAGGGAGGCAGTTGGCCCAGGCTGGCCCACCTCCAAAAAGAGGCGGAGGAGGAAGGCTGGCAGCTGGAGGTTAAAGAGGAACTGCACGCCCCAGCTAATTAAGTCAGCCTGCCAACTGCTAAACAATCAGAGCTGGGCTCAGAAAACATATTTGACCTCTCCTGCCTTCAGTTCTGAGCAGTTCTCAGCAGTCTGTTTCCTAGTAGGAAAGTTGTCAGCTAAGGACGCATGCGGGCTGGGGGTGAGGACCCCTGAGTCGTAGGTAGTCCAGGCTCTGCCAGTGACTTGTAGTGTGTCTTGGTAATTGACTTGGGTAAGGCAATTTCGTTCCTTGGGCCCTGGTTTTCCCATCTATAAAATAAGAGTGTTATGGCTGGGCATGGTAGCTCACGCCTATAGTCCCAGCACTTTAAGAGGCCGAGGCGGGCGGATTGCC | TAGCCTCTCCATGATGTGGATGTTAGGAGCAGAGGAGAAGAATGGGAATACCATCGGCCTGAAAGTCAGAAAACCTGGGAACTTCCTGTAGGGCCTTAGAGAAGCCTCTCCATCTCTCTAAACGTTAGTTTCTCCATCTGTATAATGGGGATAATTATATGCCTCACCGAGTGGTTGTGAGGGTTAAATGAAATAATGGATGTGGAAACTAATGAAACTACATGGTAGGATAGCAAAATGAGGTGATATAACTGTCATTAACATGAATGAGGAGATGATAAAACTTTCTGATTCAGATAAAGGAAAGGTAAGAGTTGGCAGGAAAAAAAATGGTCAGCAGTATGCTGGAACTGGCTTATATCAACCAGTGAGAGCTGATTGTTGTTAAACATTTGCCAGCACATCTCTGGAAACAGTGTAAATGGCTGAAGCTCTGTGGATTCCTGAGGATTCAAATTCTAGAAGACTGTGTAGAGTGATAGGTAGCAAAAGGCTTGAGGGAGGATAGGAGGTTCTAGCAGCAAGCTCCCTGAGAAAGAAGTGAAGTGAGGACTCGGAAAACCCAGGTTGTTATAAGCCTGAATTGGGTCTCTGTGGAGCTCTTGTGGGTCCCAGGAGGCAAAGAATGGTCTCACAGAAAATACCAACCTGTAGACTGTACTGACGAGGCATGTAGCCATCCCGGAAGTAAACCACAGCAATTTCCTGGCCATCCCTGGAACACAGGATGGAGAAGGCTGCTGTGTTAAATTATAACTGATTTGTTCAGTGGTTCAATCTATTTCAGGGTGCATCAAGATGAATTTGGCTTTTTCAAAATTCAGCCCACAGTGGGAGCCTGGTCAGGGGTTCACTGGAACCAGTGAAAGTAGATATCCACACTACCAGGGCTTCCACTGAAAACAGGGAGGTGTGCCATACAGAATACTTTAGAATATGCCAGATTTAGAGTCATTCTAAGAAGGCCAGAAGGAACAAGAAGGTCACTAGAATCAAATTTGGTAAATGCATACAAATGTTGGCTCGAAATTACCGAGCAGCAGAATCATACTGCCATGTGTAGTAAAACACACTTTATATTTCCACTGCTTAAAGCAGCTGAAACCAGAATGAAAAAATTTTTAATGGCAGGGGTGAAGGTGAAAACGCAAACATGTAAAATGATGAGTCTGATTAAGACACAGGCTTTTTAAATGTCTTTTCCTTTTCTTTGACCTATTTGATATTGTCTAGTTTATCTGAAAAGTAAATTAACTACTTTGTTTAGTTATGATAAAAGCACATTTTGAAAAACAGTGAGTGGTATTGTGAAATTCCATGGACAGTTTTAATTTTAACAATCACAAAGGTCTAGGTCTAAATATATGTGCTGCAATGCTACCCAAATATGTAGCACCAAATCTACCTGGTGGTGGCCCCTAGAGAAAAGGATAAGGCTTGGCTTGGAACACAAATCCAGGCTCGAGCTCAGACAGTGGCATCCAGACCAATCACAGCATGAGCCAGCTGCTCCTCTTCCTCCCTGACTGCCCAGCTCAGCTTCTCAGGCCTGACCTCACCTTACTAGGAGAGGCAAGAAAACTTTTGGGAACTTAGGGCATATGAAAACTAAGATGATCTCTAAGGAGACCCTGATCCAGAATGTCAACAGCTCTGATAGAAGCACAGCGTGGCTGGCTTTCTCCAAAATTTCCTGGGAGGATGAGATATTTCAGGAATTATGAGAGAAGGAAGCAAGCCATCACATCTCCCAGAAGAAAGAATCATTTTGGGGAAGAGGGTGGCAGGATGAGTTTCATAAACCAGCCTTCCACTGGATTCTTGGGAATGCTTACACAAACAGCCTTCGGTCTTGGTCCAGAGACCCCTTTTCAGAGATATCTTCAAATGTTCGTCGGATCACATGGATGTTCCTGGGAAAAATGGGCAAGAGCCAGAGGGAATGGATGCTATGTTCTGAGTGCCCCACCCCTAATCCTGGAGCCACACCTAGAAGTCCCCCTTCCTTTACTTACCTGGCCAGTAGCTCATTCTCTATGGCACGCTGGCCAAATATGTTTCTTTCCTTCTCTTGAGCAATCAGTAGCACCAGAGCACTGGGGAAAGAGCACAGGTGGCCCGAGGCTACTATAGAACTTGTTCTTCTTTTGTTTCTCCCCTCAACCCCCATACCGCCCCACCTCCTGGAATAAGAATAAGAACACCGCTTCCCTGAAAGAACAGATGTTCCCTCTCTCAGGAACCTTGAGATTACCTCAGGCATAGACACCTGATGCTATCACATATGATTTCCTGAAAATAGAAAACTTCAAAAATGAAGATGCCTCTGACCCTTCTCCAGTGGGCAGATGAAATATTGTAATGATGTCATGGGTTGATGAATTTCTGTGCAAATTAAAATTTAGATTTAAAACCATCTCAAAAACCCAAGAGGACTTTTTCTTAGAACTTAACATAATTCTAAAATCTTTCTGGAAGAATAAACAAGTGGGAGTATTGAGGAACATTTTGTAAAAGAACAATGCAGGGGGTCCGGGGCTAATGGCTCTATTACTAGATTGTAAAGGATACAATAAAGGAATGTGGTTCTTACACAAGATGGAACCCTACAGAAACCCACAGGGCCAACTACAAACAACGACATTATCTCCTGGGCCCTCCCAAGATTCCTATAATGTACACAGGGCCACATTTGATCTCATAGTATTAATGAGATCACTAGGGCTTATGTGGCTTCTTCCTCTCTGATTATTCATGTATTTCTTAAAGAGGCAGGGGCTTGAGGGCTCAGGGAAAAGCTTATGCCAGGGAACTATCTGTTTGGCTGCCAGCTAACATATTTCCGTTGTCAAAGATAGGTCCAGTCCCCTAAGAGATTCCTAGGGCTAATGCTCAGCAGTACCAAACTGCATTTTTTTTCTTTTACATTTTATTTTATTTATTTTTTTGAGACGGAGTCTCCCCCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTAGGCTCACTGCAACCTCCACCCCCTGGGTTCCAGCGATTCTCCTGCTTCAGCCTCCCGGGTAGCTGGGATTTCAGGTGTGCACCACCCCCGCCGGCTAATTTTTGTAGTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGCATTACAGGTGTGAGCCACTGCGCTCAGCCTCCAAACTCCATTTTTGCTGTGACTGTACTGCTTTGTGTCTGTGGCTTCTTCCTGAGACCCATGGAACCCTAGGCTTTGGCTTAGGATTCTAAGTGTGTATTCCCTGACCTCCTCTGCTTAGCCTCTCTTGTCTATCTCTGCTTCTCCTGACCTTGGCTGAACCTCTTAGTCTAAACTCTGTTTGCCTGACTCCTTTCTGCTTAGCCAAAATATAGGTCTTAGTAAGTCCCCTCTCCTGGTTTGCCTGAAATCTCATGAGGTCAGATGTGATGTTAAGCTGAGTCTTGGCTTTGAGTTGGGTGCCTGAGAGACAAACTAAAAGTGGTGCTCTCACAAGTCATCTTGCCCTGAGAGAGTCCTAAGGGCCAATGGCTTTGCTCTTCACTTTGCAGCCTAAACTGTCCCGCTCATGGGTGAGGGTGTGTGTGGGAGGGAGGCAGTTGGCCCAGGCTGGCCCACCTCCAAAAAGAGGCGGAGGAGGAAGGCTGGCAGCTGGAGGTTAAAGAGGAACTGCACGCCCCAGCTAATTAAGTCAGCCTGCCAACTGCTAAACAATCAGAGCTGGGCTCAGAAAACATATTTGACCTCTCCTGCCTTCAGTTCTGAGCAGTTCTCAGCAGTCTGTTTCCTAGTAGGAAAGTTGTCAGCTAAGGACGCATGCGGGCTGGGGGTGAGGACCCCTGAGTCGTAGGTAGTCCAGGCTCTGCCAGTGACTTGTAGTGTGTCTTGGTAATTGACTTGGGTAAGGCAATTTCGTTCCTTGGGCCCTGGTTTTCCCATCTATAAAATAAGAGTGTTATGGCTGGGCATGGTAGCTCACGCCTATAGTCCCAGCACTTTAAGAGGCCGAGGCGGGCGGATTGCC |
Task1_train_27836 | This variant affects gene GSS (glutathione synthetase) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Glutathione synthetase deficiency with 5-oxoprolinuria | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGATGATCTGAAAATCACTTACCTAACATCTTCACTTGAGAAATAGGAAGAAAGCAAAAAATGCCTCTAAGCAGTTAAAAAGGATACCATAAAATTTCGTAGTCAAAGCTTATGCATTTACTCATCCAAGAGGCCCTCACACTCTTCAGACCCAATCATAACAATCTGGATCATTTGTTTTCCCAAACCACAGCAAATCAGAAGGGAGGCATGGGCATGGGGGGTGGAGGATTCCAAATTCAAGCATACCAACAGCAGTCAAAAGTAAGAGCTGAGAATTGGGAAACAGACAAGAAAACTATGAAGAAAATGAATGAGAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCATGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGCAGCATGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGAAGTAAGCCAAGATTGTACCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAAATGACTAAGAACTTAAAGCCTAGCAGTCAGAGCTATTAGCGCAGGCAAACAGCCTTGCGTGCCTCTCTAACCCTAGGTAGCACTACTGTATTACAGCAAGCTGCAATTGTTGACAGTCATAATGATGACCTCCACTCAATAAGAAAAAGTTAAATCATAGTCAGCATCTGTTATTTAAGAAGGAAACCTTAAAATAATTTTGGCATGTAAAGGTATAAGTTTCTATTCCTAGAAAAATCCCCTTATTCTCTAATGATGGCTGGCAAGAAAAGAAGTTGCTAAACCCATGAATGCTGAAACTAAAGCAGGATCCTCCTGCTACCTTTTCACACCCTTACTTGGGTGAGCCGTAGAGCTCCCAGGCTTTGGCAATTCCCAGGGCCAGTCCCTTGCTGGGATTATTAGAGAGGATCTTGCCAGCTTCTTTGGTCTTACTCAGGACACTGAGAACATGTCTGTTGGAAGAGAGATGGCTGTTCAGTAATTGGATGGACCTGGAAGACCCCTCTGCCCATGACCTCATATATACAGCAACATGACTCTGAGAATCAGCTGAGCACTAAAAAGCATCCTCCCATCACATTCCTGTAAGATCCACTTCAGGTTGGAATATGCTGGGCTGCCCTAACCTTGGCCCCTGGTGTATATGCCTGGAGGAGACCTGAGAGCCTCTGTCCCCACCCCAACCTACCCTAGTGTCCCAGTGAGCTGGAGCCCCTTACTCTGGGCCTCCAGGTGCTGTCTGGAATCCTGCTGCAGACCATCTAAAATCATTGCAACCTGGAGCATCACTGCTGGCTAGAAATGGATGCTACCAGGCCCAGCCCCCAGACAGAAGTCCCTGCATTCCTCTCTCTGGGGCTCTCAAGATATTGTTCCCTCTGCCTGTACAATGGAGGGACAGGACTAGATGAGCTATGAGGTCCTTTTTCTCCCTGACATACCAAGGATCTCATTACAAGTGGAAACTGCTGTCGGGGTGGCCAGGGGCAACATGTGACCCGGGGCCCAGGAAAGCACAATCATAGCTGGAGTTCCCTGGCCTAGCCAGTGACTGTACACCCATCAGCATGTCACCCCACAGGTATGCCGGGGGCTGCCCAGGGGACCCACCGGTGCACAGCTGGGGTCCGGGAGGCCAGGCCCCCAAAGCTGGCAGAGATGGTGTTGATTTCGATCTGTTTCAGGGCTGGGGAGCCATCTGCGCTGCGCTGGAACATGTAGTCTGAGCGATTCAGGCCCAGGAACACAGTCTGTGGGGAAAACTGAAGGCTGACAGTACCTGCCCAGGGACTGACTCTGAGGACCTAGCCACAGAGCACACAGGTACCATGAACTCTACACAGAGATTAGAGGTACCAGCAAACACTCCCAAGCCCAGTGGAATCATTCTTCTGGTCATCCTAGAATTGGTCACTGGGATAAACCCAGTGAGGACCAGTGAGAGGCAGATTCCCATGAGCTGAGGGCCTGGACCAAATTCTTCAAGCAAAACAGAAAACAAACAGAGATGGGAGGGACAGGTTACAGACTGGAGTAGGGCTGGGAATGGTTACCTGGGCAATGCCCTCTTTTAGGACTTGCTTGTGGATGTCAAAGAGACGAGCGGTAAAGTCATCCTGTTTGATGGTGCTGGAGGAAGAAACAGAGAACATTTTGCAGGCTTAATTGGACCTAAAATTTCAAGGAGTCCCATCCTCAGTCATTGACTCCTGAATCCTCTCTGAGTCTACTGGCCAAAACTTGAATGTCCGCCCCAATGTGGTAGAGAACAGTGGCTAAGAATCCAACTCTAGACCTGGGTTCAAATCCTAGCTCTACCACTCACTAGTAGGCAACCTCAGGGAATCATTTCACCTCTCTGTGTCTCAGTTTGCTGATCTTTAAAATGGAGAATATAATTATATTTATATCATAGAGTTGTGGTAAAAAGCCAATAAGATATTACATTCAAAGAATTGAACATACTGCACCGAAGAAGAGCTAGAAAATGACATGATGTATCTATTCTACTTGAATAGCTCTGATGGTTGGCAAGCCTTCTGGTTGACCTAATACTAACTCTCCATAGCTTTTCCTACCCTCTGCGACCTCCCAGGGTGAGCCTTCTCCTCCTCCTCCACAGCAGCCCTTGGAGATTAGAAGACAGCAGTTATGCCCTGTGCACCAATAAGATTTTTCTGACCCAAGCTAAATATCCTGGGTTTTTTTTGTTTGTTTGTTTCTTCTTCAACTAGTCCTCATATGATGTGATTTCCTCAGGGAAGCCTTCCCTATCTGAGTCAGATCCCCCTACTATGTGTTCTCATAGAACTAAGAACCACTCCTTTACAGCACTGACTGCAGTTGCAATTTTACATTTTCTTTGTGTGATGATTAGTGTCATCTCTCCTGTTTGACTATAAACCTCATGAAGGTAATGGCTGTGTCTATGCAGGCTCATCGTCACAGCTCAGTGTACTGCCATGACATGTGACATGTGTTAGGGGCCTATCCAGTATGGTTTTCTGAAGTCTCAACAAGAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATGTTTTGTAGGGGGCTCTTCTCCCTTAGGAACTAGGGTTTATATGTGTATGAGAGGAGAGAGGAACAGAGAAGGCAGGGGTTGCAAAGATGAGCTGCAAGTCTCCTTCATAATTGCATCATTAGGGTTATAAGCCAGGCTGCTCATGTTTCCCACAATCCAGGATTGCAGGTACAAAGCTGGGCCCATTCCAAGAAACAGCTCAGGGGCAAGGTGGTGGGCAGATTCATACATTCATGACTCATTGGGTTTTTGGCTACAAGTCAATGGTTTCCAAGCTTCTTACCATTATGACCCCTTCTCATATTCACCCACACATTTTTAAAAGATTTTGT | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGATGATCTGAAAATCACTTACCTAACATCTTCACTTGAGAAATAGGAAGAAAGCAAAAAATGCCTCTAAGCAGTTAAAAAGGATACCATAAAATTTCGTAGTCAAAGCTTATGCATTTACTCATCCAAGAGGCCCTCACACTCTTCAGACCCAATCATAACAATCTGGATCATTTGTTTTCCCAAACCACAGCAAATCAGAAGGGAGGCATGGGCATGGGGGGTGGAGGATTCCAAATTCAAGCATACCAACAGCAGTCAAAAGTAAGAGCTGAGAATTGGGAAACAGACAAGAAAACTATGAAGAAAATGAATGAGAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCATGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGCAGCATGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGAAGTAAGCCAAGATTGTACCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAAATGACTAAGAACTTAAAGCCTAGCAGTCAGAGCTATTAGCGCAGGCAAACAGCCTTGCGTGCCTCTCTAACCCTAGGTAGCACTACTGTATTACAGCAAGCTGCAATTGTTGACAGTCATAATGATGACCTCCACTCAATAAGAAAAAGTTAAATCATAGTCAGCATCTGTTATTTAAGAAGGAAACCTTAAAATAATTTTGGCATGTAAAGGTATAAGTTTCTATTCCTAGAAAAATCCCCTTATTCTCTAATGATGGCTGGCAAGAAAAGAAGTTGCTAAACCCATGAATGCTGAAACTAAAGCAGGATCCTCCTGCTACCTTTTCACACCCTTACTTGGGTGAGCCGTAGAGCTCCCAGGCTTTGGCAATTCCCAGGGCCAGTCCCTTGCTGGGATTATTAGAGAGGATCTTGCCAGCTTCTTTGGTCTTACTCAGGACACTGAGAACATGTCTGTTGGAAGAGAGATGGCTGTTCAGTAATTGGATGGACCTGGAAGACCCCTCTGCCCATGACCTCATATATACAGCAACATGACTCTGAGAATCAGCTGAGCACTAAAAAGCATCCTCCCATCACATTCCTGTAAGATCCACTTCAGGTTGGAATATGCTGGGCTGCCCTAACCTTGGCCCCTGGTGTATATGCCTGGAGGAGACCTGAGAGCCTCTGTCCCCACCCCAACCTACCCTAGTGTCCCAGTGAGCTGGAGCCCCTTACTCTGGGCCTCCAGGTGCTGTCTGGAATCCTGCTGCAGACCATCTAAAATCATTGCAACCTGGAGCATCACTGCTGGCTAGAAATGGATGCTACCAGGCCCAGCCCCCAGACAGAAGTCCCTGCATTCCTCTCTCTGGGGCTCTCAAGATATTGTTCCCTCTGCCTGTACAATGGAGGGACAGGACTAGATGAGCTATGAGGTCCTTTTTCTCCCTGACATACCAAGGATCTCATTACAAGTGGAAACTGCTGTCGGGGTGGCCAGGGGCAACATGTGACCCGGGGCCCAGGAAAGCACAATCATAGCTGGAGTTCCCTGGCCTAGCCAGTGACTGTACACCCATCAGCATGTCACCCCACAGGTATGCCGGGGGCTGCCCAGGGGACCCACTGGTGCACAGCTGGGGTCCGGGAGGCCAGGCCCCCAAAGCTGGCAGAGATGGTGTTGATTTCGATCTGTTTCAGGGCTGGGGAGCCATCTGCGCTGCGCTGGAACATGTAGTCTGAGCGATTCAGGCCCAGGAACACAGTCTGTGGGGAAAACTGAAGGCTGACAGTACCTGCCCAGGGACTGACTCTGAGGACCTAGCCACAGAGCACACAGGTACCATGAACTCTACACAGAGATTAGAGGTACCAGCAAACACTCCCAAGCCCAGTGGAATCATTCTTCTGGTCATCCTAGAATTGGTCACTGGGATAAACCCAGTGAGGACCAGTGAGAGGCAGATTCCCATGAGCTGAGGGCCTGGACCAAATTCTTCAAGCAAAACAGAAAACAAACAGAGATGGGAGGGACAGGTTACAGACTGGAGTAGGGCTGGGAATGGTTACCTGGGCAATGCCCTCTTTTAGGACTTGCTTGTGGATGTCAAAGAGACGAGCGGTAAAGTCATCCTGTTTGATGGTGCTGGAGGAAGAAACAGAGAACATTTTGCAGGCTTAATTGGACCTAAAATTTCAAGGAGTCCCATCCTCAGTCATTGACTCCTGAATCCTCTCTGAGTCTACTGGCCAAAACTTGAATGTCCGCCCCAATGTGGTAGAGAACAGTGGCTAAGAATCCAACTCTAGACCTGGGTTCAAATCCTAGCTCTACCACTCACTAGTAGGCAACCTCAGGGAATCATTTCACCTCTCTGTGTCTCAGTTTGCTGATCTTTAAAATGGAGAATATAATTATATTTATATCATAGAGTTGTGGTAAAAAGCCAATAAGATATTACATTCAAAGAATTGAACATACTGCACCGAAGAAGAGCTAGAAAATGACATGATGTATCTATTCTACTTGAATAGCTCTGATGGTTGGCAAGCCTTCTGGTTGACCTAATACTAACTCTCCATAGCTTTTCCTACCCTCTGCGACCTCCCAGGGTGAGCCTTCTCCTCCTCCTCCACAGCAGCCCTTGGAGATTAGAAGACAGCAGTTATGCCCTGTGCACCAATAAGATTTTTCTGACCCAAGCTAAATATCCTGGGTTTTTTTTGTTTGTTTGTTTCTTCTTCAACTAGTCCTCATATGATGTGATTTCCTCAGGGAAGCCTTCCCTATCTGAGTCAGATCCCCCTACTATGTGTTCTCATAGAACTAAGAACCACTCCTTTACAGCACTGACTGCAGTTGCAATTTTACATTTTCTTTGTGTGATGATTAGTGTCATCTCTCCTGTTTGACTATAAACCTCATGAAGGTAATGGCTGTGTCTATGCAGGCTCATCGTCACAGCTCAGTGTACTGCCATGACATGTGACATGTGTTAGGGGCCTATCCAGTATGGTTTTCTGAAGTCTCAACAAGAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATGTTTTGTAGGGGGCTCTTCTCCCTTAGGAACTAGGGTTTATATGTGTATGAGAGGAGAGAGGAACAGAGAAGGCAGGGGTTGCAAAGATGAGCTGCAAGTCTCCTTCATAATTGCATCATTAGGGTTATAAGCCAGGCTGCTCATGTTTCCCACAATCCAGGATTGCAGGTACAAAGCTGGGCCCATTCCAAGAAACAGCTCAGGGGCAAGGTGGTGGGCAGATTCATACATTCATGACTCATTGGGTTTTTGGCTACAAGTCAATGGTTTCCAAGCTTCTTACCATTATGACCCCTTCTCATATTCACCCACACATTTTTAAAAGATTTTGT |
Task1_train_27837 | This sequence variant lies in GSS (glutathione synthetase) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Inborn genetic diseases | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGATGATCTGAAAATCACTTACCTAACATCTTCACTTGAGAAATAGGAAGAAAGCAAAAAATGCCTCTAAGCAGTTAAAAAGGATACCATAAAATTTCGTAGTCAAAGCTTATGCATTTACTCATCCAAGAGGCCCTCACACTCTTCAGACCCAATCATAACAATCTGGATCATTTGTTTTCCCAAACCACAGCAAATCAGAAGGGAGGCATGGGCATGGGGGGTGGAGGATTCCAAATTCAAGCATACCAACAGCAGTCAAAAGTAAGAGCTGAGAATTGGGAAACAGACAAGAAAACTATGAAGAAAATGAATGAGAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCATGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGCAGCATGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGAAGTAAGCCAAGATTGTACCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAAATGACTAAGAACTTAAAGCCTAGCAGTCAGAGCTATTAGCGCAGGCAAACAGCCTTGCGTGCCTCTCTAACCCTAGGTAGCACTACTGTATTACAGCAAGCTGCAATTGTTGACAGTCATAATGATGACCTCCACTCAATAAGAAAAAGTTAAATCATAGTCAGCATCTGTTATTTAAGAAGGAAACCTTAAAATAATTTTGGCATGTAAAGGTATAAGTTTCTATTCCTAGAAAAATCCCCTTATTCTCTAATGATGGCTGGCAAGAAAAGAAGTTGCTAAACCCATGAATGCTGAAACTAAAGCAGGATCCTCCTGCTACCTTTTCACACCCTTACTTGGGTGAGCCGTAGAGCTCCCAGGCTTTGGCAATTCCCAGGGCCAGTCCCTTGCTGGGATTATTAGAGAGGATCTTGCCAGCTTCTTTGGTCTTACTCAGGACACTGAGAACATGTCTGTTGGAAGAGAGATGGCTGTTCAGTAATTGGATGGACCTGGAAGACCCCTCTGCCCATGACCTCATATATACAGCAACATGACTCTGAGAATCAGCTGAGCACTAAAAAGCATCCTCCCATCACATTCCTGTAAGATCCACTTCAGGTTGGAATATGCTGGGCTGCCCTAACCTTGGCCCCTGGTGTATATGCCTGGAGGAGACCTGAGAGCCTCTGTCCCCACCCCAACCTACCCTAGTGTCCCAGTGAGCTGGAGCCCCTTACTCTGGGCCTCCAGGTGCTGTCTGGAATCCTGCTGCAGACCATCTAAAATCATTGCAACCTGGAGCATCACTGCTGGCTAGAAATGGATGCTACCAGGCCCAGCCCCCAGACAGAAGTCCCTGCATTCCTCTCTCTGGGGCTCTCAAGATATTGTTCCCTCTGCCTGTACAATGGAGGGACAGGACTAGATGAGCTATGAGGTCCTTTTTCTCCCTGACATACCAAGGATCTCATTACAAGTGGAAACTGCTGTCGGGGTGGCCAGGGGCAACATGTGACCCGGGGCCCAGGAAAGCACAATCATAGCTGGAGTTCCCTGGCCTAGCCAGTGACTGTACACCCATCAGCATGTCACCCCACAGGTATGCCGGGGGCTGCCCAGGGGACCCACCGGTGCACAGCTGGGGTCCGGGAGGCCAGGCCCCCAAAGCTGGCAGAGATGGTGTTGATTTCGATCTGTTTCAGGGCTGGGGAGCCATCTGCGCTGCGCTGGAACATGTAGTCTGAGCGATTCAGGCCCAGGAACACAGTCTGTGGGGAAAACTGAAGGCTGACAGTACCTGCCCAGGGACTGACTCTGAGGACCTAGCCACAGAGCACACAGGTACCATGAACTCTACACAGAGATTAGAGGTACCAGCAAACACTCCCAAGCCCAGTGGAATCATTCTTCTGGTCATCCTAGAATTGGTCACTGGGATAAACCCAGTGAGGACCAGTGAGAGGCAGATTCCCATGAGCTGAGGGCCTGGACCAAATTCTTCAAGCAAAACAGAAAACAAACAGAGATGGGAGGGACAGGTTACAGACTGGAGTAGGGCTGGGAATGGTTACCTGGGCAATGCCCTCTTTTAGGACTTGCTTGTGGATGTCAAAGAGACGAGCGGTAAAGTCATCCTGTTTGATGGTGCTGGAGGAAGAAACAGAGAACATTTTGCAGGCTTAATTGGACCTAAAATTTCAAGGAGTCCCATCCTCAGTCATTGACTCCTGAATCCTCTCTGAGTCTACTGGCCAAAACTTGAATGTCCGCCCCAATGTGGTAGAGAACAGTGGCTAAGAATCCAACTCTAGACCTGGGTTCAAATCCTAGCTCTACCACTCACTAGTAGGCAACCTCAGGGAATCATTTCACCTCTCTGTGTCTCAGTTTGCTGATCTTTAAAATGGAGAATATAATTATATTTATATCATAGAGTTGTGGTAAAAAGCCAATAAGATATTACATTCAAAGAATTGAACATACTGCACCGAAGAAGAGCTAGAAAATGACATGATGTATCTATTCTACTTGAATAGCTCTGATGGTTGGCAAGCCTTCTGGTTGACCTAATACTAACTCTCCATAGCTTTTCCTACCCTCTGCGACCTCCCAGGGTGAGCCTTCTCCTCCTCCTCCACAGCAGCCCTTGGAGATTAGAAGACAGCAGTTATGCCCTGTGCACCAATAAGATTTTTCTGACCCAAGCTAAATATCCTGGGTTTTTTTTGTTTGTTTGTTTCTTCTTCAACTAGTCCTCATATGATGTGATTTCCTCAGGGAAGCCTTCCCTATCTGAGTCAGATCCCCCTACTATGTGTTCTCATAGAACTAAGAACCACTCCTTTACAGCACTGACTGCAGTTGCAATTTTACATTTTCTTTGTGTGATGATTAGTGTCATCTCTCCTGTTTGACTATAAACCTCATGAAGGTAATGGCTGTGTCTATGCAGGCTCATCGTCACAGCTCAGTGTACTGCCATGACATGTGACATGTGTTAGGGGCCTATCCAGTATGGTTTTCTGAAGTCTCAACAAGAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATGTTTTGTAGGGGGCTCTTCTCCCTTAGGAACTAGGGTTTATATGTGTATGAGAGGAGAGAGGAACAGAGAAGGCAGGGGTTGCAAAGATGAGCTGCAAGTCTCCTTCATAATTGCATCATTAGGGTTATAAGCCAGGCTGCTCATGTTTCCCACAATCCAGGATTGCAGGTACAAAGCTGGGCCCATTCCAAGAAACAGCTCAGGGGCAAGGTGGTGGGCAGATTCATACATTCATGACTCATTGGGTTTTTGGCTACAAGTCAATGGTTTCCAAGCTTCTTACCATTATGACCCCTTCTCATATTCACCCACACATTTTTAAAAGATTTTGT | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGATGATCTGAAAATCACTTACCTAACATCTTCACTTGAGAAATAGGAAGAAAGCAAAAAATGCCTCTAAGCAGTTAAAAAGGATACCATAAAATTTCGTAGTCAAAGCTTATGCATTTACTCATCCAAGAGGCCCTCACACTCTTCAGACCCAATCATAACAATCTGGATCATTTGTTTTCCCAAACCACAGCAAATCAGAAGGGAGGCATGGGCATGGGGGGTGGAGGATTCCAAATTCAAGCATACCAACAGCAGTCAAAAGTAAGAGCTGAGAATTGGGAAACAGACAAGAAAACTATGAAGAAAATGAATGAGAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCATGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGCAGCATGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGAAGTAAGCCAAGATTGTACCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAAATGACTAAGAACTTAAAGCCTAGCAGTCAGAGCTATTAGCGCAGGCAAACAGCCTTGCGTGCCTCTCTAACCCTAGGTAGCACTACTGTATTACAGCAAGCTGCAATTGTTGACAGTCATAATGATGACCTCCACTCAATAAGAAAAAGTTAAATCATAGTCAGCATCTGTTATTTAAGAAGGAAACCTTAAAATAATTTTGGCATGTAAAGGTATAAGTTTCTATTCCTAGAAAAATCCCCTTATTCTCTAATGATGGCTGGCAAGAAAAGAAGTTGCTAAACCCATGAATGCTGAAACTAAAGCAGGATCCTCCTGCTACCTTTTCACACCCTTACTTGGGTGAGCCGTAGAGCTCCCAGGCTTTGGCAATTCCCAGGGCCAGTCCCTTGCTGGGATTATTAGAGAGGATCTTGCCAGCTTCTTTGGTCTTACTCAGGACACTGAGAACATGTCTGTTGGAAGAGAGATGGCTGTTCAGTAATTGGATGGACCTGGAAGACCCCTCTGCCCATGACCTCATATATACAGCAACATGACTCTGAGAATCAGCTGAGCACTAAAAAGCATCCTCCCATCACATTCCTGTAAGATCCACTTCAGGTTGGAATATGCTGGGCTGCCCTAACCTTGGCCCCTGGTGTATATGCCTGGAGGAGACCTGAGAGCCTCTGTCCCCACCCCAACCTACCCTAGTGTCCCAGTGAGCTGGAGCCCCTTACTCTGGGCCTCCAGGTGCTGTCTGGAATCCTGCTGCAGACCATCTAAAATCATTGCAACCTGGAGCATCACTGCTGGCTAGAAATGGATGCTACCAGGCCCAGCCCCCAGACAGAAGTCCCTGCATTCCTCTCTCTGGGGCTCTCAAGATATTGTTCCCTCTGCCTGTACAATGGAGGGACAGGACTAGATGAGCTATGAGGTCCTTTTTCTCCCTGACATACCAAGGATCTCATTACAAGTGGAAACTGCTGTCGGGGTGGCCAGGGGCAACATGTGACCCGGGGCCCAGGAAAGCACAATCATAGCTGGAGTTCCCTGGCCTAGCCAGTGACTGTACACCCATCAGCATGTCACCCCACAGGTATGCCGGGGGCTGCCCAGGGGACCCACTGGTGCACAGCTGGGGTCCGGGAGGCCAGGCCCCCAAAGCTGGCAGAGATGGTGTTGATTTCGATCTGTTTCAGGGCTGGGGAGCCATCTGCGCTGCGCTGGAACATGTAGTCTGAGCGATTCAGGCCCAGGAACACAGTCTGTGGGGAAAACTGAAGGCTGACAGTACCTGCCCAGGGACTGACTCTGAGGACCTAGCCACAGAGCACACAGGTACCATGAACTCTACACAGAGATTAGAGGTACCAGCAAACACTCCCAAGCCCAGTGGAATCATTCTTCTGGTCATCCTAGAATTGGTCACTGGGATAAACCCAGTGAGGACCAGTGAGAGGCAGATTCCCATGAGCTGAGGGCCTGGACCAAATTCTTCAAGCAAAACAGAAAACAAACAGAGATGGGAGGGACAGGTTACAGACTGGAGTAGGGCTGGGAATGGTTACCTGGGCAATGCCCTCTTTTAGGACTTGCTTGTGGATGTCAAAGAGACGAGCGGTAAAGTCATCCTGTTTGATGGTGCTGGAGGAAGAAACAGAGAACATTTTGCAGGCTTAATTGGACCTAAAATTTCAAGGAGTCCCATCCTCAGTCATTGACTCCTGAATCCTCTCTGAGTCTACTGGCCAAAACTTGAATGTCCGCCCCAATGTGGTAGAGAACAGTGGCTAAGAATCCAACTCTAGACCTGGGTTCAAATCCTAGCTCTACCACTCACTAGTAGGCAACCTCAGGGAATCATTTCACCTCTCTGTGTCTCAGTTTGCTGATCTTTAAAATGGAGAATATAATTATATTTATATCATAGAGTTGTGGTAAAAAGCCAATAAGATATTACATTCAAAGAATTGAACATACTGCACCGAAGAAGAGCTAGAAAATGACATGATGTATCTATTCTACTTGAATAGCTCTGATGGTTGGCAAGCCTTCTGGTTGACCTAATACTAACTCTCCATAGCTTTTCCTACCCTCTGCGACCTCCCAGGGTGAGCCTTCTCCTCCTCCTCCACAGCAGCCCTTGGAGATTAGAAGACAGCAGTTATGCCCTGTGCACCAATAAGATTTTTCTGACCCAAGCTAAATATCCTGGGTTTTTTTTGTTTGTTTGTTTCTTCTTCAACTAGTCCTCATATGATGTGATTTCCTCAGGGAAGCCTTCCCTATCTGAGTCAGATCCCCCTACTATGTGTTCTCATAGAACTAAGAACCACTCCTTTACAGCACTGACTGCAGTTGCAATTTTACATTTTCTTTGTGTGATGATTAGTGTCATCTCTCCTGTTTGACTATAAACCTCATGAAGGTAATGGCTGTGTCTATGCAGGCTCATCGTCACAGCTCAGTGTACTGCCATGACATGTGACATGTGTTAGGGGCCTATCCAGTATGGTTTTCTGAAGTCTCAACAAGAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATGTTTTGTAGGGGGCTCTTCTCCCTTAGGAACTAGGGTTTATATGTGTATGAGAGGAGAGAGGAACAGAGAAGGCAGGGGTTGCAAAGATGAGCTGCAAGTCTCCTTCATAATTGCATCATTAGGGTTATAAGCCAGGCTGCTCATGTTTCCCACAATCCAGGATTGCAGGTACAAAGCTGGGCCCATTCCAAGAAACAGCTCAGGGGCAAGGTGGTGGGCAGATTCATACATTCATGACTCATTGGGTTTTTGGCTACAAGTCAATGGTTTCCAAGCTTCTTACCATTATGACCCCTTCTCATATTCACCCACACATTTTTAAAAGATTTTGT |
Task1_train_27838 | A variant was discovered in gene GSS (glutathione synthetase), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Inherited glutathione synthetase deficiency | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGATGATCTGAAAATCACTTACCTAACATCTTCACTTGAGAAATAGGAAGAAAGCAAAAAATGCCTCTAAGCAGTTAAAAAGGATACCATAAAATTTCGTAGTCAAAGCTTATGCATTTACTCATCCAAGAGGCCCTCACACTCTTCAGACCCAATCATAACAATCTGGATCATTTGTTTTCCCAAACCACAGCAAATCAGAAGGGAGGCATGGGCATGGGGGGTGGAGGATTCCAAATTCAAGCATACCAACAGCAGTCAAAAGTAAGAGCTGAGAATTGGGAAACAGACAAGAAAACTATGAAGAAAATGAATGAGAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCATGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGCAGCATGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGAAGTAAGCCAAGATTGTACCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAAATGACTAAGAACTTAAAGCCTAGCAGTCAGAGCTATTAGCGCAGGCAAACAGCCTTGCGTGCCTCTCTAACCCTAGGTAGCACTACTGTATTACAGCAAGCTGCAATTGTTGACAGTCATAATGATGACCTCCACTCAATAAGAAAAAGTTAAATCATAGTCAGCATCTGTTATTTAAGAAGGAAACCTTAAAATAATTTTGGCATGTAAAGGTATAAGTTTCTATTCCTAGAAAAATCCCCTTATTCTCTAATGATGGCTGGCAAGAAAAGAAGTTGCTAAACCCATGAATGCTGAAACTAAAGCAGGATCCTCCTGCTACCTTTTCACACCCTTACTTGGGTGAGCCGTAGAGCTCCCAGGCTTTGGCAATTCCCAGGGCCAGTCCCTTGCTGGGATTATTAGAGAGGATCTTGCCAGCTTCTTTGGTCTTACTCAGGACACTGAGAACATGTCTGTTGGAAGAGAGATGGCTGTTCAGTAATTGGATGGACCTGGAAGACCCCTCTGCCCATGACCTCATATATACAGCAACATGACTCTGAGAATCAGCTGAGCACTAAAAAGCATCCTCCCATCACATTCCTGTAAGATCCACTTCAGGTTGGAATATGCTGGGCTGCCCTAACCTTGGCCCCTGGTGTATATGCCTGGAGGAGACCTGAGAGCCTCTGTCCCCACCCCAACCTACCCTAGTGTCCCAGTGAGCTGGAGCCCCTTACTCTGGGCCTCCAGGTGCTGTCTGGAATCCTGCTGCAGACCATCTAAAATCATTGCAACCTGGAGCATCACTGCTGGCTAGAAATGGATGCTACCAGGCCCAGCCCCCAGACAGAAGTCCCTGCATTCCTCTCTCTGGGGCTCTCAAGATATTGTTCCCTCTGCCTGTACAATGGAGGGACAGGACTAGATGAGCTATGAGGTCCTTTTTCTCCCTGACATACCAAGGATCTCATTACAAGTGGAAACTGCTGTCGGGGTGGCCAGGGGCAACATGTGACCCGGGGCCCAGGAAAGCACAATCATAGCTGGAGTTCCCTGGCCTAGCCAGTGACTGTACACCCATCAGCATGTCACCCCACAGGTATGCCGGGGGCTGCCCAGGGGACCCACCGGTGCACAGCTGGGGTCCGGGAGGCCAGGCCCCCAAAGCTGGCAGAGATGGTGTTGATTTCGATCTGTTTCAGGGCTGGGGAGCCATCTGCGCTGCGCTGGAACATGTAGTCTGAGCGATTCAGGCCCAGGAACACAGTCTGTGGGGAAAACTGAAGGCTGACAGTACCTGCCCAGGGACTGACTCTGAGGACCTAGCCACAGAGCACACAGGTACCATGAACTCTACACAGAGATTAGAGGTACCAGCAAACACTCCCAAGCCCAGTGGAATCATTCTTCTGGTCATCCTAGAATTGGTCACTGGGATAAACCCAGTGAGGACCAGTGAGAGGCAGATTCCCATGAGCTGAGGGCCTGGACCAAATTCTTCAAGCAAAACAGAAAACAAACAGAGATGGGAGGGACAGGTTACAGACTGGAGTAGGGCTGGGAATGGTTACCTGGGCAATGCCCTCTTTTAGGACTTGCTTGTGGATGTCAAAGAGACGAGCGGTAAAGTCATCCTGTTTGATGGTGCTGGAGGAAGAAACAGAGAACATTTTGCAGGCTTAATTGGACCTAAAATTTCAAGGAGTCCCATCCTCAGTCATTGACTCCTGAATCCTCTCTGAGTCTACTGGCCAAAACTTGAATGTCCGCCCCAATGTGGTAGAGAACAGTGGCTAAGAATCCAACTCTAGACCTGGGTTCAAATCCTAGCTCTACCACTCACTAGTAGGCAACCTCAGGGAATCATTTCACCTCTCTGTGTCTCAGTTTGCTGATCTTTAAAATGGAGAATATAATTATATTTATATCATAGAGTTGTGGTAAAAAGCCAATAAGATATTACATTCAAAGAATTGAACATACTGCACCGAAGAAGAGCTAGAAAATGACATGATGTATCTATTCTACTTGAATAGCTCTGATGGTTGGCAAGCCTTCTGGTTGACCTAATACTAACTCTCCATAGCTTTTCCTACCCTCTGCGACCTCCCAGGGTGAGCCTTCTCCTCCTCCTCCACAGCAGCCCTTGGAGATTAGAAGACAGCAGTTATGCCCTGTGCACCAATAAGATTTTTCTGACCCAAGCTAAATATCCTGGGTTTTTTTTGTTTGTTTGTTTCTTCTTCAACTAGTCCTCATATGATGTGATTTCCTCAGGGAAGCCTTCCCTATCTGAGTCAGATCCCCCTACTATGTGTTCTCATAGAACTAAGAACCACTCCTTTACAGCACTGACTGCAGTTGCAATTTTACATTTTCTTTGTGTGATGATTAGTGTCATCTCTCCTGTTTGACTATAAACCTCATGAAGGTAATGGCTGTGTCTATGCAGGCTCATCGTCACAGCTCAGTGTACTGCCATGACATGTGACATGTGTTAGGGGCCTATCCAGTATGGTTTTCTGAAGTCTCAACAAGAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATGTTTTGTAGGGGGCTCTTCTCCCTTAGGAACTAGGGTTTATATGTGTATGAGAGGAGAGAGGAACAGAGAAGGCAGGGGTTGCAAAGATGAGCTGCAAGTCTCCTTCATAATTGCATCATTAGGGTTATAAGCCAGGCTGCTCATGTTTCCCACAATCCAGGATTGCAGGTACAAAGCTGGGCCCATTCCAAGAAACAGCTCAGGGGCAAGGTGGTGGGCAGATTCATACATTCATGACTCATTGGGTTTTTGGCTACAAGTCAATGGTTTCCAAGCTTCTTACCATTATGACCCCTTCTCATATTCACCCACACATTTTTAAAAGATTTTGT | GGCTTAGCAAGGACAGAGAGGCTCCCTTGGAGGTAAGAGCATGATTAAGAGTGGAGGTTTTAGAGGGAGGTAGACTTTGGGATCTGCCACCAACTCATCACTTAGCCTTAACAATTCACTTCGTTTCTCAGAACCTCAGTTTCCTCATCTGTAAAATGAGGGAGTTGAACAGTATTGACCTCAGAGAGCTTATTATGAGAATTCAATGAGATCCTGTATGTACAGAGCTTAGCACAAGGTGTAGCACTAGTAAGTGTACATTAAGGACTATTAATGCTATATTAACATTGCAATAACTGTTAGTATAGCGGCCCCTCGATGATCTGAAAATCACTTACCTAACATCTTCACTTGAGAAATAGGAAGAAAGCAAAAAATGCCTCTAAGCAGTTAAAAAGGATACCATAAAATTTCGTAGTCAAAGCTTATGCATTTACTCATCCAAGAGGCCCTCACACTCTTCAGACCCAATCATAACAATCTGGATCATTTGTTTTCCCAAACCACAGCAAATCAGAAGGGAGGCATGGGCATGGGGGGTGGAGGATTCCAAATTCAAGCATACCAACAGCAGTCAAAAGTAAGAGCTGAGAATTGGGAAACAGACAAGAAAACTATGAAGAAAATGAATGAGAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCATGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGCAGCATGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGAAGTAAGCCAAGATTGTACCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGAAATGACTAAGAACTTAAAGCCTAGCAGTCAGAGCTATTAGCGCAGGCAAACAGCCTTGCGTGCCTCTCTAACCCTAGGTAGCACTACTGTATTACAGCAAGCTGCAATTGTTGACAGTCATAATGATGACCTCCACTCAATAAGAAAAAGTTAAATCATAGTCAGCATCTGTTATTTAAGAAGGAAACCTTAAAATAATTTTGGCATGTAAAGGTATAAGTTTCTATTCCTAGAAAAATCCCCTTATTCTCTAATGATGGCTGGCAAGAAAAGAAGTTGCTAAACCCATGAATGCTGAAACTAAAGCAGGATCCTCCTGCTACCTTTTCACACCCTTACTTGGGTGAGCCGTAGAGCTCCCAGGCTTTGGCAATTCCCAGGGCCAGTCCCTTGCTGGGATTATTAGAGAGGATCTTGCCAGCTTCTTTGGTCTTACTCAGGACACTGAGAACATGTCTGTTGGAAGAGAGATGGCTGTTCAGTAATTGGATGGACCTGGAAGACCCCTCTGCCCATGACCTCATATATACAGCAACATGACTCTGAGAATCAGCTGAGCACTAAAAAGCATCCTCCCATCACATTCCTGTAAGATCCACTTCAGGTTGGAATATGCTGGGCTGCCCTAACCTTGGCCCCTGGTGTATATGCCTGGAGGAGACCTGAGAGCCTCTGTCCCCACCCCAACCTACCCTAGTGTCCCAGTGAGCTGGAGCCCCTTACTCTGGGCCTCCAGGTGCTGTCTGGAATCCTGCTGCAGACCATCTAAAATCATTGCAACCTGGAGCATCACTGCTGGCTAGAAATGGATGCTACCAGGCCCAGCCCCCAGACAGAAGTCCCTGCATTCCTCTCTCTGGGGCTCTCAAGATATTGTTCCCTCTGCCTGTACAATGGAGGGACAGGACTAGATGAGCTATGAGGTCCTTTTTCTCCCTGACATACCAAGGATCTCATTACAAGTGGAAACTGCTGTCGGGGTGGCCAGGGGCAACATGTGACCCGGGGCCCAGGAAAGCACAATCATAGCTGGAGTTCCCTGGCCTAGCCAGTGACTGTACACCCATCAGCATGTCACCCCACAGGTATGCCGGGGGCTGCCCAGGGGACCCACTGGTGCACAGCTGGGGTCCGGGAGGCCAGGCCCCCAAAGCTGGCAGAGATGGTGTTGATTTCGATCTGTTTCAGGGCTGGGGAGCCATCTGCGCTGCGCTGGAACATGTAGTCTGAGCGATTCAGGCCCAGGAACACAGTCTGTGGGGAAAACTGAAGGCTGACAGTACCTGCCCAGGGACTGACTCTGAGGACCTAGCCACAGAGCACACAGGTACCATGAACTCTACACAGAGATTAGAGGTACCAGCAAACACTCCCAAGCCCAGTGGAATCATTCTTCTGGTCATCCTAGAATTGGTCACTGGGATAAACCCAGTGAGGACCAGTGAGAGGCAGATTCCCATGAGCTGAGGGCCTGGACCAAATTCTTCAAGCAAAACAGAAAACAAACAGAGATGGGAGGGACAGGTTACAGACTGGAGTAGGGCTGGGAATGGTTACCTGGGCAATGCCCTCTTTTAGGACTTGCTTGTGGATGTCAAAGAGACGAGCGGTAAAGTCATCCTGTTTGATGGTGCTGGAGGAAGAAACAGAGAACATTTTGCAGGCTTAATTGGACCTAAAATTTCAAGGAGTCCCATCCTCAGTCATTGACTCCTGAATCCTCTCTGAGTCTACTGGCCAAAACTTGAATGTCCGCCCCAATGTGGTAGAGAACAGTGGCTAAGAATCCAACTCTAGACCTGGGTTCAAATCCTAGCTCTACCACTCACTAGTAGGCAACCTCAGGGAATCATTTCACCTCTCTGTGTCTCAGTTTGCTGATCTTTAAAATGGAGAATATAATTATATTTATATCATAGAGTTGTGGTAAAAAGCCAATAAGATATTACATTCAAAGAATTGAACATACTGCACCGAAGAAGAGCTAGAAAATGACATGATGTATCTATTCTACTTGAATAGCTCTGATGGTTGGCAAGCCTTCTGGTTGACCTAATACTAACTCTCCATAGCTTTTCCTACCCTCTGCGACCTCCCAGGGTGAGCCTTCTCCTCCTCCTCCACAGCAGCCCTTGGAGATTAGAAGACAGCAGTTATGCCCTGTGCACCAATAAGATTTTTCTGACCCAAGCTAAATATCCTGGGTTTTTTTTGTTTGTTTGTTTCTTCTTCAACTAGTCCTCATATGATGTGATTTCCTCAGGGAAGCCTTCCCTATCTGAGTCAGATCCCCCTACTATGTGTTCTCATAGAACTAAGAACCACTCCTTTACAGCACTGACTGCAGTTGCAATTTTACATTTTCTTTGTGTGATGATTAGTGTCATCTCTCCTGTTTGACTATAAACCTCATGAAGGTAATGGCTGTGTCTATGCAGGCTCATCGTCACAGCTCAGTGTACTGCCATGACATGTGACATGTGTTAGGGGCCTATCCAGTATGGTTTTCTGAAGTCTCAACAAGAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATGTTTTGTAGGGGGCTCTTCTCCCTTAGGAACTAGGGTTTATATGTGTATGAGAGGAGAGAGGAACAGAGAAGGCAGGGGTTGCAAAGATGAGCTGCAAGTCTCCTTCATAATTGCATCATTAGGGTTATAAGCCAGGCTGCTCATGTTTCCCACAATCCAGGATTGCAGGTACAAAGCTGGGCCCATTCCAAGAAACAGCTCAGGGGCAAGGTGGTGGGCAGATTCATACATTCATGACTCATTGGGTTTTTGGCTACAAGTCAATGGTTTCCAAGCTTCTTACCATTATGACCCCTTCTCATATTCACCCACACATTTTTAAAAGATTTTGT |
Task1_train_27839 | Here’s a variant in GDF5, GDF5-AS1 (growth differentiation factor 5| GDF5 antisense RNA 1) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GGACACGCAGCCCAGGAAATAATACCTGTGGGAGTCAGCCCCACCTGTGACCCATTCATCTTATCTATCTGCCCTTGGGTTTCTGGCCCCCCAGTTTCTACACTGCTCTCCCTGGATCCCCAGCCCACTCCTTGGCTTCCCCAGCACCTCCCTTCCAGGCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGT | GGACACGCAGCCCAGGAAATAATACCTGTGGGAGTCAGCCCCACCTGTGACCCATTCATCTTATCTATCTGCCCTTGGGTTTCTGGCCCCCCAGTTTCTACACTGCTCTCCCTGGATCCCCAGCCCACTCCTTGGCTTCCCCAGCACCTCCCTTCCAGGCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTTATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGT |
Task1_train_27840 | A mutation in GDF5-AS1, GDF5 (GDF5 antisense RNA 1| growth differentiation factor 5), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Multiple synostoses syndrome 2 | TGACCCATTCATCTTATCTATCTGCCCTTGGGTTTCTGGCCCCCCAGTTTCTACACTGCTCTCCCTGGATCCCCAGCCCACTCCTTGGCTTCCCCAGCACCTCCCTTCCAGGCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTA | TGACCCATTCATCTTATCTATCTGCCCTTGGGTTTCTGGCCCCCCAGTTTCTACACTGCTCTCCCTGGATCCCCAGCCCACTCCTTGGCTTCCCCAGCACCTCCCTTCCAGGCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGTTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTA |
Task1_train_27841 | Here is a genetic alteration in GDF5, GDF5-AS1 (growth differentiation factor 5| GDF5 antisense RNA 1) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCT | GCCCATTCTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGAGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCT |
Task1_train_27842 | Here is a genetic alteration in GDF5-AS1, GDF5 (GDF5 antisense RNA 1| growth differentiation factor 5) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Acromesomelic dysplasia 2B | CTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGT | CTCCCCTCACACACACCACAGCTCTGTCTGCCACGGCAGCTCCTTTGTTTACTTCCAGAGCTGCCAGGCCCACCACTAGCCAAACACAACGAAGCCCAGCCAGTGAGGGGAGGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGTGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGT |
Task1_train_27843 | Located on Chromosome 20, this mutation impacts GDF5, GDF5-AS1 (growth differentiation factor 5| GDF5 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Brachydactyly type A1C | GGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGTGACTAATTAGGCCTTTAAACTCCCCATCTCCCCCTCTCCAAGCTCCCTTAGTGCTGGGGGGCACACGGACTTATTTTATGAGCCCCCAAGGGGTCACAGCTTTCCCTGGCT | GGCTCCAGGCTCAGTCTGTCCCCTCAGAGAGAGGTAATAGCCTCCAGACCAAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCAAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGTGACTAATTAGGCCTTTAAACTCCCCATCTCCCCCTCTCCAAGCTCCCTTAGTGCTGGGGGGCACACGGACTTATTTTATGAGCCCCCAAGGGGTCACAGCTTTCCCTGGCT |
Task1_train_27844 | The following genetic variant occurs in GDF5, GDF5-AS1 (growth differentiation factor 5| GDF5 antisense RNA 1) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Acromesomelic dysplasia 2B | CAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGTGACTAATTAGGCCTTTAAACTCCCCATCTCCCCCTCTCCAAGCTCCCTTAGTGCTGGGGGGCACACGGACTTATTTTATGAGCCCCCAAGGGGTCACAGCTTTCCCTGGCTGGGCAGGCAGCCAGACCACCTCCCCCACCTCAGCCAGACCTGCTGCCTCTGTGCCTCCCCCG | CAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTTGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGTGACTAATTAGGCCTTTAAACTCCCCATCTCCCCCTCTCCAAGCTCCCTTAGTGCTGGGGGGCACACGGACTTATTTTATGAGCCCCCAAGGGGTCACAGCTTTCCCTGGCTGGGCAGGCAGCCAGACCACCTCCCCCACCTCAGCCAGACCTGCTGCCTCTGTGCCTCCCCCG |
Task1_train_27845 | Gene GDF5-AS1, GDF5 (GDF5 antisense RNA 1| growth differentiation factor 5) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Symphalangism, proximal, 1B | CCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGTGACTAATTAGGCCTTTAAACTCCCCATCTCCCCCTCTCCAAGCTCCCTTAGTGCTGGGGGGCACACGGACTTATTTTATGAGCCCCCAAGGGGTCACAGCTTTCCCTGGCTGGGCAGGCAGCCAGACCACCTCCCCCACCTCAGCCAGACCTGCTGCCTCTGTGCCTCCCCCGCCCCCTGGCAGCCCC | CCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCTTGGCAGCCCAGATTCCCCAGGGGAGAGATAAAGGACTCTTTCAATGGTGCCCAGGTAATTCTGTGAGTATGGGGGTAGCAGGGCAGGCAGATATTGGTCGATGATGTAGGAATGATTTTAGAAGAAATGAAATCCCCAATTTCCCTCCCTTTTAGGGATCTATTTTGGAGACAACAAACTTGACTAAGGAATCTCAAGAAGAAAATATAATTCTGCTGCCAGGCCCCAATGGAGCAAATAGAGCTCGGGACCCAGGGGCCTTTGGAAGGAACAGGAATGCGGTTAGAGGTGAGCACTGGCCCTGCTTAGCTGCACTCTCTGTCCCATTGTGCTTCAGTTTCCAGGAGTGGGGGTGGGGATAGGGCTCTGAAAACTGAGTTTATACATGAAGCAACCCACCTCCCTGCCCTGGGTCAGTAATTCTTCAAGGGGTCACTGGGTCCCCTGGAGTAAACAAGAAATTTGCCACAGTTTTAGGCACAGTTTTGCTTTTTATCTCATCAATATACATTTAAATCTAACAGTCTAACAGCCTCACACTCCTCAACTCTATCCAAGCCCTCTCCTCTTCTCTCCCACTCTTGCCCAGTCAGCTTCTCAACTGTCCCAGGGACAGGAAGTCACCAGGCACAAATGTGATTTGAGGAGGCAGTGGCACCTGTGGCTCTCCTGAGAGGTGCTTAGGAGAGTCCAGAGGCTGAGAAGGCCCAGGTGAGGAGAAATGGTGGGCTGAGTCTCATCGGAAAGCACTGTTTCCTGGGACTCAGTCCCATTCAGAGTCTGTCTCCCTGGACCTGTGCCTGCCACTGGTCACATCAGCAGACGGGCAGCAATCCTCAGCCAGGGGAACTTGTGGATAAAAGGGGGCCTTTAGCCCAAGTCACACTCAGAGAGCGAGCAAGCTTATTGGAATCCCCTTTCACCCAAGCTGTGTAGATGCTCCTGCCACAGCTTCCTGACCCCTCTGTGATTCCAGGAGTGCAGGAAGGGGCTCTTGGGATGTGCCACCCAGGAAGACAGAGGGCCAGTGCTGCTACCTGCAGCCACACGACTCCACGACCATGTCCTCATACTGCTTATACACCACGTTGTTGGCAGAGTCAATGAAGAGGATGCTGATGGGACTCAGCCGCGTGGGCACACAGCAGGTGGGTGGTGTGGACTCGGGGTCCATGGAGTTCATCAGGGTCTGGATGACTGCATGATTCGTGGGCTCCAGGTGGGAGCGCAATGGGAACTCGCACAGCCCCTCGCAGTGGAAAGCCTCGTACTCAAGGGGTGCGATGATCCAGTCGTCCCAGCCCATGTCCTTGAAGTTGACATGCAGTGCCTTCCGACTGCAGCGAGCCTTAAGGTTCTTGCTGGGTCGCTTGCCCTGGCGAGTGGCCAGTGGGGCCCGCCGTTTTCGCCGCTGGCTGAACCGGTACTCATACACGGTCTTATCGTCCTGGCCAGAGCGGGCCTTAATCTCATTAAAGAACAGGTCCCGTTTCTTGGTGCGGCCAAACACCAGGAACAGGGCTTTCTCGTGGACCTGCCGGGCGGCGCGGTCGAAGCCCAGGCCACGGAGGTCCACGGCCCTGCCCCGTTCCCAGGCCTCCAGCTCCAGGCACAGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACCTCCCAGCCAGATCCGTCCAGGCCTGGCACGGAGCGCACATCCAGCAAGGCGGCCGGCTGCCGGCCGCTGGGGCAGCTGGACAGCTTCAGCTGGGCAGCCCGCCCGCCTCCGGGGGCCGCTGGCTTGGCCGTGTCCGAGGGCTTCTTCCGCAAGATCCGCAGCTCGGCCCCCAGCAGCCCATCCTTCTCCAGGGCACTAATGTCAAACACGTACCTCTGCTTCCTGACCACGGGACCTCGGTCATCTAGAGAGAACACCCAGAAGTCATTCCCTGCAACCTCACCAAGGGAGCCAGTCACTTCGAGGCTGCGGGGGAAGGCCCCAGCTCTCTCCCAGTCCAGAGAGCTTTCTTTCACCTCTGCCCCATTCTGACAGAAGCCAAGAGCCAAACCACTGAGAGCCTTTTTGAAAATGAGAGCATTTCCTACATAGCCGACCAAGTAGGGGTGTTCACCTGAAGATGTGGCTGGGGATGATTTGCGTGATTCTGGTGTTTGTGTCATGATATACGTGTTATCAGAGATTTATCAGCTTTGTAACTGCCTTCTACCTATCTCTCTCCCAGCCATGAGCTAACGTGATGTCTCATTTGTGAGATAGGTGGAGTGAGCATTAAAATTACTCCTGTTGACTGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGCTCCGGAGTTCGAAACCAGCCTGCACAACATGGTGACACTCTGTCTCTACAAAAAATACAAAAATTAACCAGGCATGGTGGCGTGCACATGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGTGACTAATTAGGCCTTTAAACTCCCCATCTCCCCCTCTCCAAGCTCCCTTAGTGCTGGGGGGCACACGGACTTATTTTATGAGCCCCCAAGGGGTCACAGCTTTCCCTGGCTGGGCAGGCAGCCAGACCACCTCCCCCACCTCAGCCAGACCTGCTGCCTCTGTGCCTCCCCCGCCCCCTGGCAGCCCC |
Task1_train_27846 | The gene GDF5 (growth differentiation factor 5), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Brachydactyly type C | TTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGTGACTAATTAGGCCTTTAAACTCCCCATCTCCCCCTCTCCAAGCTCCCTTAGTGCTGGGGGGCACACGGACTTATTTTATGAGCCCCCAAGGGGTCACAGCTTTCCCTGGCTGGGCAGGCAGCCAGACCACCTCCCCCACCTCAGCCAGACCTGCTGCCTCTGTGCCTCCCCCGCCCCCTGGCAGCCCCCTCCAGGCCAGCTCTAATGAGGAGCCTCTCCCACCCTCTGACCCCTCCCCCACCCTGCCAGCCTAGGACCAGAGCAAATGAGCTGCAGGCAACTTGAGCGACCAACAGCCCACCTCCCTCTTCACACTAGGAAGAAACTGAGGCCCTGAGAGGGGGAGGGACTTGCTTAGATCACACAGCAAGTGGAGAGGAAAAGCTGCAACAGTAACATTAGGTGGGCCGAGAGAGACAGAGGGGAGCAGGTAGTCTCTGGAGTTAATGAGGAGAATGAGGCATGTTCAGGACAGCATCTAAAGTTTTCATGTTGGAAGGGCTCTCAGAAACCACCCTGTCCAACCCCATATAGGTGTACAGATGGGAAAACGGAGACCCCAAGTGAGAAGGAGCTTTCCCAAGGTCATACTGCGAGTTAGGCCCTGGGTCTGCTCCCTCCCCATGTATCTGAACATCATTCCATGACTCCAAGATGCCCCATTTACTGTGTGCACCTCTCTTGCCTCCTCTATCCCCTTGCCTGAGGGCAAAGTTGCAGAAGCATGGGGACCTCAAGATTCATTTCTTTCTCTGCCGTCTGAGACCGCCTACAAACCTGTGAAGCTTGGAAAGTTCGGCCAGCCCAGCAGGTACAGATGCACAACTGAGCAATCAAGTCTCGGAATCTGGTCTCCAACTCTGCCACGAACTGGCAGGTCTTGTCTCTTCTCTAGGCTTTAGTGCCCACTCTGCACCTTGCAGGCGTTGGACCTGGTGCTTCCTAGGTGCCCTCCAGCCCTGATGTGTGGGCAGCCTAGGATCTGCTATGTGTGAGATATGTGTCAGTGTCCCCAGACACCCACCCCGGGCCAGATGCACACAGTGTCTCCCACCAGGGCAGTGCCAGGGCTTTGAAAGCCCCTCCATTCATGCAGATGCCCCTCCCTCTGAGCCGTGCCCCTGCCACCCCGCCCCCTCACCTTGCCCTTTGTCAATAAAGCTGGTGATGGTGTTGGCCAGGCCAGCCTCCAACTTCACGCTGCTGTTGCCTCCCTTTCTGTCAGCATCGGACAGCGTCCTGTACAGCGAGAGCATGTACTCGTGGGGTGTGATGGGGGGTGGGCGAAACGGCTCCTTGGGCTCTCGTGGGGGCCCGGGCTCCCTGGCCTTCTTCAGCAGGAAGGAGCTGGGGACAGATCCTGCTTTTGGGGGTGCCTTGCCTCCGGGAAGCTGTCCTTTTGGGGTCACAGTCCGGGCTGTAGCCTGCCTTGTTTGGGGAGGGTGTCCTGGCTTGGGTTCAGGGCCGCCCGGTCTGGGGGGCAGCTTTTTGGGTTCATCCTTCTTGGGCTGTGTCAGGCCTCCTGTCTGCCCGGTGCCTCCCTTTGCCCTGGCATTGGCATTGGTGGCCCCCCCACCATAGCTGTGACCCCCTGGCCTGAAGACGTTCCGGGCCAGGGGGGGCCTCTCCTTGGCCTCTGCTTTGGCCAATCCTGGCCTGGTCCCCTGGGGTCTCTGGCCCAAGTCAGGGGCACCCAACACAGTGCAGATGAATTCCAGGTCCAGCCAAGCCAGGTACCAAAGCAAGAAAGTGAGGAGTTTGGGGAGTCTCATCCTCTGGCCAGCCGCTGAATGACACCAAAGAGAACAGCGGCAGCAGCGAAGGTGCCTCTGGTTTGGCAGGAAAAACCATGAAAGGAGTGGACTTTCAAAAGCAGCGGCAGCAGCAGTAGCAGCAGAAGGAAAGGCTTTCTCCTCAGTCTGAGACTCTTGAAGTCTGCCGGGTGTGTGTTTGTATCCAGTCCCATAGTGGAAATGCTCTCGTATCCAGACGTGCACCGTCTCCAGTCAGCAGCTGAAAATAACTCGTTCTTGAAAGGAGAAAGCCGACCGCCCCCTTTCTCCTGCACAACTGACTGAGGGCTTGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTCCAAGAAGGAAGAATGGCGTAATGCTGCCTGTGTGCTCCAGTTTTTTTTTCCCCCTAGTTTTGAATCCTTTCCAGTGAAAATACTTCACACACACACACACACACACACACACACACACTCACAGGCCTGCAGGTGCTCAGAAAAATCTTTTACAAACCTGAACTCAGGAATTGGAAACGGAATTCCAACCCAAACCAATTTAATTACTCTCTGATGTCATGCTGTCTAAACTCATTTAAGTGCGATATATTTATGTGAAAAAAATCACCGCTGCCCTTTCGAGGCCATGGCTCACGGGGGCTCCTGGCACAGAGCCCTGCAGCGGGACTCTAGGCTTAGGGGGCCTCCCCCTCCACAGGGCAGACTCAGGGGTCTTCACCTCCACCTCATGGAGCAGCCCACCCCACTTTCCCGAGGAGAGATGCTGAAGAATGAGCTCAAAGATCTTAAGCCCCAGAAGCATGGGGAGTGTGGGTTTGTAGTTAAGTTCTTAGAGTGTTTTTAAAGCAGTTTCAACTCCTGCATCTAGTCTGGGACCTGATTTGTTATGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATGTGCCTGTGTGTGTGTGTGCCTGTGTGTGTGTGTGCCTGTGTGTGTGTATTGGGAGTAGGGACAGCACAGATGGCAGCATTTACCCACATTTTCTTTTATTTTAATAAACTTGTGGTGACCCAGAGACTGAAAAATATCAGTGCCCACTACACCCCCTCCCTACCCCCAAATGCCATTGACTGAGTGCATATTCTTCAGGCTTGGGGGCACTGTCGCCCTTAAGTTCACTCCTTGGATGGCGGCAGGTCCAGGGTGTACCCCACCACCACCCCAGCAGAGACGTCCTCTGAGTTTTCTTAGACAAGACTGGCTGAGTCTGGGGCAGCAGCGGCCCCTACAGGAGGCTGGAAAAGCCATTTCCCACATGACGCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGAGTGCAGTGGCATGATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCACGCCATTCCCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCCCCTGCCACCACACCTGGCTGATTTTTTACGTTTGTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAC | TTGATTGACCCCAGGGAGGTCAAGGCTTCAGTGAGCCGTGAATTCGCTATTGCACTCCGGCCTGGGCAACAGAGAAAGACCCTGGCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACACGCTTTTCCAGAGGAGAATCCCAAGGTTCAGAGAAGTTAGATGACTTGCTCAAATTCTCAGCTGCTTCCACCATCCCTTAAAGGAGACCTTGGTGCTCTTGTTATGCAGATGAGGCACAGAGATGGGGAGTGACTTGACTAAGGTCACACAGCAAGTTAATGACAAAGCTGGTCCACACTGACCTACAGCCCAATTTTCCTGGCTTTCCAGTGCAAGGATTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAACATAAGGCTATGTATGTGTATGTGAGAAGCTCAGTAGTATCTCCGAATCAGCATGCCCTCCTTCCTAAATTGCAATTTGCCATTGGGGAGCTTTCATATATTGCTCTAGAAGGTGACTAATTAGGCCTTTAAACTCCCCATCTCCCCCTCTCCAAGCTCCCTTAGTGCTGGGGGGCACACGGACTTATTTTATGAGCCCCCAAGGGGTCACAGCTTTCCCTGGCTGGGCAGGCAGCCAGACCACCTCCCCCACCTCAGCCAGACCTGCTGCCTCTGTGCCTCCCCCGCCCCCTGGCAGCCCCCTCCAGGCCAGCTCTAATGAGGAGCCTCTCCCACCCTCTGACCCCTCCCCCACCCTGCCAGCCTAGGACCAGAGCAAATGAGCTGCAGGCAACTTGAGCGACCAACAGCCCACCTCCCTCTTCACACTAGGAAGAAACTGAGGCCCTGAGAGGGGGAGGGACTTGCTTAGATCACACAGCAAGTGGAGAGGAAAAGCTGCAACAGTAACATTAGGTGGGCCGAGAGAGACAGAGGGGAGCAGGTAGTCTCTGGAGTTAATGAGGAGAATGAGGCATGTTCAGGACAGCATCTAAAGTTTTCATGTTGGAAGGGCTCTCAGAAACCACCCTGTCCAACCCCATATAGGTGTACAGATGGGAAAACGGAGACCCCAAGTGAGAAGGAGCTTTCCCAAGGTCATACTGCGAGTTAGGCCCTGGGTCTGCTCCCTCCCCATGTATCTGAACATCATTCCATGACTCCAAGATGCCCCATTTACTGTGTGCACCTCTCTTGCCTCCTCTATCCCCTTGCCTGAGGGCAAAGTTGCAGAAGCATGGGGACCTCAAGATTCATTTCTTTCTCTGCCGTCTGAGACCGCCTACAAACCTGTGAAGCTTGGAAAGTTCGGCCAGCCCAGCAGGTACAGATGCACAACTGAGCAATCAAGTCTCGGAATCTGGTCTCCAACTCTGCCACGAACTGGCAGGTCTTGTCTCTTCTCTAGGCTTTAGTGCCCACTCTGCACCTTGCAGGCGTTGGACCTGGTGCTTCCTAGGTGCCCTCCAGCCCTGATGTGTGGGCAGCCTAGGATCTGCTATGTGTGAGATATGTGTCAGTGTCCCCAGACACCCACCCCGGGCCAGATGCACACAGTGTCTCCCACCAGGGCAGTGCCAGGGCTTTGAAAGCCCCTCCATTCATGCAGATGCCCCTCCCTCTGAGCCGTGCCCCTGCCACCCCGCCCCCTCACCTTGCCCTTTGTCAATAAAGCTGGTGATGGTGTTGGCCAGGCCAGCCTCCAACTTCACGCTGCTGTTGCCTCCCTTTCTGTCAGCATCGGACAGCGTCCTGTACAGCGAGAGCACGTACTCGTGGGGTGTGATGGGGGGTGGGCGAAACGGCTCCTTGGGCTCTCGTGGGGGCCCGGGCTCCCTGGCCTTCTTCAGCAGGAAGGAGCTGGGGACAGATCCTGCTTTTGGGGGTGCCTTGCCTCCGGGAAGCTGTCCTTTTGGGGTCACAGTCCGGGCTGTAGCCTGCCTTGTTTGGGGAGGGTGTCCTGGCTTGGGTTCAGGGCCGCCCGGTCTGGGGGGCAGCTTTTTGGGTTCATCCTTCTTGGGCTGTGTCAGGCCTCCTGTCTGCCCGGTGCCTCCCTTTGCCCTGGCATTGGCATTGGTGGCCCCCCCACCATAGCTGTGACCCCCTGGCCTGAAGACGTTCCGGGCCAGGGGGGGCCTCTCCTTGGCCTCTGCTTTGGCCAATCCTGGCCTGGTCCCCTGGGGTCTCTGGCCCAAGTCAGGGGCACCCAACACAGTGCAGATGAATTCCAGGTCCAGCCAAGCCAGGTACCAAAGCAAGAAAGTGAGGAGTTTGGGGAGTCTCATCCTCTGGCCAGCCGCTGAATGACACCAAAGAGAACAGCGGCAGCAGCGAAGGTGCCTCTGGTTTGGCAGGAAAAACCATGAAAGGAGTGGACTTTCAAAAGCAGCGGCAGCAGCAGTAGCAGCAGAAGGAAAGGCTTTCTCCTCAGTCTGAGACTCTTGAAGTCTGCCGGGTGTGTGTTTGTATCCAGTCCCATAGTGGAAATGCTCTCGTATCCAGACGTGCACCGTCTCCAGTCAGCAGCTGAAAATAACTCGTTCTTGAAAGGAGAAAGCCGACCGCCCCCTTTCTCCTGCACAACTGACTGAGGGCTTGAAGGAGGCTTGTATAAGGCTGAGGGATTTTTCCAAGAAGGAAGAATGGCGTAATGCTGCCTGTGTGCTCCAGTTTTTTTTTCCCCCTAGTTTTGAATCCTTTCCAGTGAAAATACTTCACACACACACACACACACACACACACACACACTCACAGGCCTGCAGGTGCTCAGAAAAATCTTTTACAAACCTGAACTCAGGAATTGGAAACGGAATTCCAACCCAAACCAATTTAATTACTCTCTGATGTCATGCTGTCTAAACTCATTTAAGTGCGATATATTTATGTGAAAAAAATCACCGCTGCCCTTTCGAGGCCATGGCTCACGGGGGCTCCTGGCACAGAGCCCTGCAGCGGGACTCTAGGCTTAGGGGGCCTCCCCCTCCACAGGGCAGACTCAGGGGTCTTCACCTCCACCTCATGGAGCAGCCCACCCCACTTTCCCGAGGAGAGATGCTGAAGAATGAGCTCAAAGATCTTAAGCCCCAGAAGCATGGGGAGTGTGGGTTTGTAGTTAAGTTCTTAGAGTGTTTTTAAAGCAGTTTCAACTCCTGCATCTAGTCTGGGACCTGATTTGTTATGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATGTGCCTGTGTGTGTGTGTGCCTGTGTGTGTGTGTGCCTGTGTGTGTGTATTGGGAGTAGGGACAGCACAGATGGCAGCATTTACCCACATTTTCTTTTATTTTAATAAACTTGTGGTGACCCAGAGACTGAAAAATATCAGTGCCCACTACACCCCCTCCCTACCCCCAAATGCCATTGACTGAGTGCATATTCTTCAGGCTTGGGGGCACTGTCGCCCTTAAGTTCACTCCTTGGATGGCGGCAGGTCCAGGGTGTACCCCACCACCACCCCAGCAGAGACGTCCTCTGAGTTTTCTTAGACAAGACTGGCTGAGTCTGGGGCAGCAGCGGCCCCTACAGGAGGCTGGAAAAGCCATTTCCCACATGACGCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGAGTGCAGTGGCATGATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCACGCCATTCCCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCCCCTGCCACCACACCTGGCTGATTTTTTACGTTTGTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAC |
Task1_train_27847 | Consider this mutation in EPB41L1 (erythrocyte membrane protein band 4.1 like 1) on Chromosome 20. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, autosomal dominant 11 | AGAAGAGGGAAGCAGAAATTGTGTGTTTGCTTATTTGTTTGTTCACTGAGCAGATGTTAGTGAGTGTCAACTTTGTGTTAGCCTCTGTGCCAGGGCTGCTGGATGTAGCAGTAAGTGAGGCCTGTTTATGGGACATGAGAAGCACATGTAGGGGGTGTAACTGGGAAATTAGGTTGCACTGGGGGCAGGGAGGTGGAATATAGAGCAAATAACAAATACCAGGACACATTTGACTCTGGAGGATCTGGGCCTCAGGGAGATTGGAAAGCCATGAAGGTTTTTAGATTGGAGAGTAACCCAGTGAACATAGGTTTAAGGAGAGAATATCAGGTCCACCAGGATGTGTAGATAGGTGGGAGAAAGAAGAGGGAGAAGTATGGAGAGAGACGGATAATAAATAACTCAGGCCTGGTGGGGAGGGCCTGGACCAGGGTGTGAGTTAGAGCTCAGGCAGCAAGAGGTAGGGGCAAAGGAGGGAAGCCTTCCTGGGTGACCCAGCAATAAGGACAAGGGCTAGTTGGGAGGCAGGCGGGCTGATGCGTCCACACCTATGTGGCCAGGAGGAAGGCAGGAGGGCGCCTAGCCAGGGCTGGAGGCCTGGAGCAGCCAGGTTGATGAGCCATCAGAGGAGAACTCTGGTCAGTTGCACTGGGCCTTCATGCACGGACTGTCCTGGCCTCTGCCTGCGCCTCTACAGGATTCAGCACTTTCTCACGTACCCCACAAAGAACCCACTCTCAGCAAAAGCATTACTGAGCAATGTTGACTTCTCTGAAAGCTTTATGGGAGGTTTTACATCCCACGCCCACAGCAGACAGCTCAGGAAACTCTTCTTCCCAAAGTCCCTGCCAACTGGGAGCCCCCTCTTCTTTCTATCCACTCCTGACTCCAGCTGGGATTCCCCACAGACACCACCCTGCTTTAACATGCCAAACAATTAGGTCCTGCCTCAGTTATTACTTCTAAACTTGTCCAAACCCCTTGCCTTCAGAAAACAGCGGAGGTCATAAGTATCATCAATCCAATTTTCTCTTGTAGTATTTTTTGAAGTTGCTTAAGGCAGAACCTTGTCACCATTCACATTTCATTCATGTGTTCATTCAACAAATCTGCATTCAGCACTGCCCTGGTTAGACTGGGTGAGGGAGTGGGGGAGGAGGGGATATAGAGATGAACAAAATACAGACCCTGCCTTCAAGAGCTGGCAGCCTGGTGAGGTGAACAAGGCCACAGACATACATAAGGTCGGCACCAGGCAGAGAGGTCCAGAACTGTGAGAGAGACAGATTCAGTGCTCAGGCAGTACCAAGGCAGGAAGACAGAAGCATTGCCAACCAGGGTCTGAGAGGCAGCATTGGAGCTAGGCTTGGAAGACCTAGATGGGATAGTTTGGTAGTTTTGGGGAGTGGTGGCAACCAGGCAAGATCTGCAGTTCAAAGTCCAAAATCAGAAAAGAAAAAATCTGAGGAAGTCAGGAGAGAAGGTAACTGCTGGTTCTCAGCCCTGCCCTCGAGAGATGATTTGGGTAGGTCCCCTCTTGAGGCTGCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCCAGTCCTCAATCCCTCCTATGTTGGGTTACCCATGGATGGCTATCCTCATGGGCAGAGAAGGTGTCCACTTCTTGCTGACCCTGTTCAGATAAGAAACCCCCAAGAGAGGGGCATTGGATGGGAGCCAGAAGGAGCCAGAAGACCTGAGCTCTAGTCTCTCCCTTTAGTTGTTTGACTTTGCCCCTCTCTGGGCCTCAGTTTTTCCAGCTGTGCACTAGAGGGCTTGCTGTTCTTCACAGTCTCTCTCGTCTTGGATAGTTCATGGTTCCTTCCTTTGCTGTTCTTTACCACCAGGCCCTGGCTTTGGCCATCAAGGAGGCCAAACTGCAGCATCCTGATATGCTGGTAACCAAAGCTGTCGTATACAGAGAAACAGACCCATCCCCAGAGGAGAGGGACAAGAAGCCACAGGTAAGGCTCCTGAGGCCCAGCAACCATGAGAGAGAGGAGGGAGCAGTAGCAAGATCCTCTGAGGGCCATTTCCATCTGAGAAGCCAGTGGCTTGACCCCTAGTGCAGCTTTGACCCTCCCCCCATCAGCCTTCCTGATTTGCTGCTCAAAGGAGAGAGGCACCTCCCCGAGATACAAGTCGGTGGGGAGAAGAAGGAAGACTGGTTCCTTGGTTTCTTTGGGGTTTCAGGCTCCAGATCCAGAAAAATAAATCCAGAAGTGGTTAAAAATTTTTTTAAAGGGAGGGAAATGGAGAGAGGATTGACAGTGGATATTGAGGTGGGACAGATGGAGGTCCTCATTATCTCCTTGGGCATTGTCTATAAACCGGAAGTCAGAAAAAGTCCTACTAGGCCCAGTGCCACGTTCCTGGCCCTGAGTCTCTCTCTCTATCACAAGTCACTGAATGTTGTTAAGGGGCCATGATGACCAGAGCCCTTGATCCCTTTTGTCTTGCTTGATTGCAATTTTTATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTTGACTCACTGCAACCTCTGGCTCCTGGGTTTAAGTGATTCTCTTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCCGCCACTGCGCCCAGCTAATATTTTGTATTTTTAGTAAAGACGTGGTTTCACCGTGTTAGCCAGGATAGTCTCGATCCCCTGACCTCGGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTAATTTTTATATTTTCAGTAGAGACGGGGTTTTACCTTGTTGGCCAGGCTGGTATCAAACTCCTGTCCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCATGATTGCATTTTGACTTCTGAGACCTGCAGGAGCCAAAATCTTAGGGACTCTAATATTCTCTTGTTTCACTGTGGGCCATCAATGCTTTGGTGAATAAGAGAAATAAGATGATGTTGGGGCAGATAGGGCTTTTAAGCAACCTAAATTAGGGGAGGGGTTCTTCTGGGCCCTCTGGAAATTTACCAGATCTTATCAGATCTTAAAGCAAAATCCCATAGACATTGAGTTGGATAAAATAAGCCAGGCACAGAAAGTATAAACTGTATGATTCCATTCGTAGGGAGTCCAAAAGCAAGCAAAACTAATCGACAAGGTTGAAAATCAGAATATTCCTGATTTTCTATCTGAGAAAAAAATTCTTCTGATTTTTCTGTTACTTCTGGGATGCAGTATTCACAAGGAAGAGGGAAGGGCCAGAAAGGAACCTTCTAGGGTACTGGAAATGTCACTATTTTCAACTGGGTGGGTTACATGGGTATATACATATAAACACATTTATAAAATTATTCTCCCACTTAGAGTTGTGTACTTCACACATTTCATGGGCTCTACCACAATGAAAAAAAATCCATCTCAAAGACCCCACAAATATAATTGCTGGTCTCCTTTTTGCCCTTTTCCTTGAATGAATGAAACCAGTCTTTTCTAGAAAGATACGAGAATGTTTCTCTTCCTTTGATTACCAGACCCCTTAATGTCAGAAGAAAAAGCACTGAAACATTTTCCTGCTGCTCTGAAAGGCTGCTAACCTCTGGTCTGGACTAGGGCTGTTCAGCAGAACTTTCTGCAGTGATGGAAGTGTTCTTTCTGTGCTGTCTGGGATGGTAGTCACTAGCCGCATGTGGCTATTGAGGACTTGAAATTGGCTAGTCTAAAAAGAAATGTGCTTTAAGGGTGAAATACATGCAGGATTTTGAAAATTTAATATAAAAAAAGTAAATAATCTCAATAATTTTTACATTGGTTACATATTTAAATGATAAGGGATACATCAGGTTAGGTAAAATGTACTATTAAAATTAACTTCATC | AGAAGAGGGAAGCAGAAATTGTGTGTTTGCTTATTTGTTTGTTCACTGAGCAGATGTTAGTGAGTGTCAACTTTGTGTTAGCCTCTGTGCCAGGGCTGCTGGATGTAGCAGTAAGTGAGGCCTGTTTATGGGACATGAGAAGCACATGTAGGGGGTGTAACTGGGAAATTAGGTTGCACTGGGGGCAGGGAGGTGGAATATAGAGCAAATAACAAATACCAGGACACATTTGACTCTGGAGGATCTGGGCCTCAGGGAGATTGGAAAGCCATGAAGGTTTTTAGATTGGAGAGTAACCCAGTGAACATAGGTTTAAGGAGAGAATATCAGGTCCACCAGGATGTGTAGATAGGTGGGAGAAAGAAGAGGGAGAAGTATGGAGAGAGACGGATAATAAATAACTCAGGCCTGGTGGGGAGGGCCTGGACCAGGGTGTGAGTTAGAGCTCAGGCAGCAAGAGGTAGGGGCAAAGGAGGGAAGCCTTCCTGGGTGACCCAGCAATAAGGACAAGGGCTAGTTGGGAGGCAGGCGGGCTGATGCGTCCACACCTATGTGGCCAGGAGGAAGGCAGGAGGGCGCCTAGCCAGGGCTGGAGGCCTGGAGCAGCCAGGTTGATGAGCCATCAGAGGAGAACTCTGGTCAGTTGCACTGGGCCTTCATGCACGGACTGTCCTGGCCTCTGCCTGCGCCTCTACAGGATTCAGCACTTTCTCACGTACCCCACAAAGAACCCACTCTCAGCAAAAGCATTACTGAGCAATGTTGACTTCTCTGAAAGCTTTATGGGAGGTTTTACATCCCACGCCCACAGCAGACAGCTCAGGAAACTCTTCTTCCCAAAGTCCCTGCCAACTGGGAGCCCCCTCTTCTTTCTATCCACTCCTGACTCCAGCTGGGATTCCCCACAGACACCACCCTGCTTTAACATGCCAAACAATTAGGTCCTGCCTCAGTTATTACTTCTAAACTTGTCCAAACCCCTTGCCTTCAGAAAACAGCGGAGGTCATAAGTATCATCAATCCAATTTTCTCTTGTAGTATTTTTTGAAGTTGCTTAAGGCAGAACCTTGTCACCATTCACATTTCATTCATGTGTTCATTCAACAAATCTGCATTCAGCACTGCCCTGGTTAGACTGGGTGAGGGAGTGGGGGAGGAGGGGATATAGAGATGAACAAAATACAGACCCTGCCTTCAAGAGCTGGCAGCCTGGTGAGGTGAACAAGGCCACAGACATACATAAGGTCGGCACCAGGCAGAGAGGTCCAGAACTGTGAGAGAGACAGATTCAGTGCTCAGGCAGTACCAAGGCAGGAAGACAGAAGCATTGCCAACCAGGGTCTGAGAGGCAGCATTGGAGCTAGGCTTGGAAGACCTAGATGGGATAGTTTGGTAGTTTTGGGGAGTGGTGGCAACCAGGCAAGATCTGCAGTTCAAAGTCCAAAATCAGAAAAGAAAAAATCTGAGGAAGTCAGGAGAGAAGGTAACTGCTGGTTCTCAGCCCTGCCCTCGAGAGATGATTTGGGTAGGTCCCCTCTTGAGGCTGCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCCAGTCCTCAATCCCTCCTATGTTGGGTTACCCATGGATGGCTATCCTCATGGGCAGAGAAGGTGTCCACTTCTTGCTGACCCTGTTCAGATAAGAAACCCCCAAGAGAGGGGCATTGGATGGGAGCCAGAAGGAGCCAGAAGACCTGAGCTCTAGTCTCTCCCTTTAGTTGTTTGACTTTGCCCCTCTCTGGGCCTCAGTTTTTCCAGCTGTGCACTAGAGGGCTTGCTGTTCTTCACAGTCTCTCTCGTCTTGGATAGTTCATGGTTCCTTCCTTTGCTGTTCTTTACCACCAGGCCCTGGCTTTGGCCATCAAGGAGGCCAAACTGCAGCATTCTGATATGCTGGTAACCAAAGCTGTCGTATACAGAGAAACAGACCCATCCCCAGAGGAGAGGGACAAGAAGCCACAGGTAAGGCTCCTGAGGCCCAGCAACCATGAGAGAGAGGAGGGAGCAGTAGCAAGATCCTCTGAGGGCCATTTCCATCTGAGAAGCCAGTGGCTTGACCCCTAGTGCAGCTTTGACCCTCCCCCCATCAGCCTTCCTGATTTGCTGCTCAAAGGAGAGAGGCACCTCCCCGAGATACAAGTCGGTGGGGAGAAGAAGGAAGACTGGTTCCTTGGTTTCTTTGGGGTTTCAGGCTCCAGATCCAGAAAAATAAATCCAGAAGTGGTTAAAAATTTTTTTAAAGGGAGGGAAATGGAGAGAGGATTGACAGTGGATATTGAGGTGGGACAGATGGAGGTCCTCATTATCTCCTTGGGCATTGTCTATAAACCGGAAGTCAGAAAAAGTCCTACTAGGCCCAGTGCCACGTTCCTGGCCCTGAGTCTCTCTCTCTATCACAAGTCACTGAATGTTGTTAAGGGGCCATGATGACCAGAGCCCTTGATCCCTTTTGTCTTGCTTGATTGCAATTTTTATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTTGACTCACTGCAACCTCTGGCTCCTGGGTTTAAGTGATTCTCTTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCGCCCGCCACTGCGCCCAGCTAATATTTTGTATTTTTAGTAAAGACGTGGTTTCACCGTGTTAGCCAGGATAGTCTCGATCCCCTGACCTCGGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTAATTTTTATATTTTCAGTAGAGACGGGGTTTTACCTTGTTGGCCAGGCTGGTATCAAACTCCTGTCCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCATGATTGCATTTTGACTTCTGAGACCTGCAGGAGCCAAAATCTTAGGGACTCTAATATTCTCTTGTTTCACTGTGGGCCATCAATGCTTTGGTGAATAAGAGAAATAAGATGATGTTGGGGCAGATAGGGCTTTTAAGCAACCTAAATTAGGGGAGGGGTTCTTCTGGGCCCTCTGGAAATTTACCAGATCTTATCAGATCTTAAAGCAAAATCCCATAGACATTGAGTTGGATAAAATAAGCCAGGCACAGAAAGTATAAACTGTATGATTCCATTCGTAGGGAGTCCAAAAGCAAGCAAAACTAATCGACAAGGTTGAAAATCAGAATATTCCTGATTTTCTATCTGAGAAAAAAATTCTTCTGATTTTTCTGTTACTTCTGGGATGCAGTATTCACAAGGAAGAGGGAAGGGCCAGAAAGGAACCTTCTAGGGTACTGGAAATGTCACTATTTTCAACTGGGTGGGTTACATGGGTATATACATATAAACACATTTATAAAATTATTCTCCCACTTAGAGTTGTGTACTTCACACATTTCATGGGCTCTACCACAATGAAAAAAAATCCATCTCAAAGACCCCACAAATATAATTGCTGGTCTCCTTTTTGCCCTTTTCCTTGAATGAATGAAACCAGTCTTTTCTAGAAAGATACGAGAATGTTTCTCTTCCTTTGATTACCAGACCCCTTAATGTCAGAAGAAAAAGCACTGAAACATTTTCCTGCTGCTCTGAAAGGCTGCTAACCTCTGGTCTGGACTAGGGCTGTTCAGCAGAACTTTCTGCAGTGATGGAAGTGTTCTTTCTGTGCTGTCTGGGATGGTAGTCACTAGCCGCATGTGGCTATTGAGGACTTGAAATTGGCTAGTCTAAAAAGAAATGTGCTTTAAGGGTGAAATACATGCAGGATTTTGAAAATTTAATATAAAAAAAGTAAATAATCTCAATAATTTTTACATTGGTTACATATTTAAATGATAAGGGATACATCAGGTTAGGTAAAATGTACTATTAAAATTAACTTCATC |
Task1_train_27848 | Here is a mutation in SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not specified | CTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCTGGAGTTTGAAACCAGCTTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAACACAAAATTAGTTGGGCATGGTAGCAAGTGCCTGTACTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCCTGAACTCAGGAGGCGGAGGTTGCAGTGACCTGAGGTTGTGCCACTGCCCTCTAGCCTGGGCAACAGAGCAAGACACCGTCTCAAAAATAAATAAATAAATAATATAAAATCTAATAATAAACTAACAATGCTTGAATTCATGCATTAAAACAGTACTATCTTTCAAAGTAGCTACATACCTAGTCTAAATAATATGCATTGTTGAATGTATTCTTTGAGCTCCACTTTTTTGGAAATAGGATATTTGCTACAAAACTCATCTGTTTATCTTATACTGTAAGTACACTTGTATATATTTGAGGAAACAGCCCTAAAAATCTCAGGGGGAAATTATTTCCCAACTTTATTTTTAATTAAAAAAATACAAAAGATCAAAAAGGAAACAAAACAGATTTTCCATTGAACTGGTTCAACTTTTTTGTAGATCTTCCTATAAATATTTCAAATATGATTTTTTTTTAAATTTGTAGACAGGATCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTTGCACAATCACAGATCACTGCAGCCTGCCTCAGCCTCCCAAGCATCTGAGACTACAGGCATGAGACAGGGTTTCAGTATTACCCAGGCTGATCTCAAACTCCTGGGCTCAAGTGATCCTCCCATCATGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGAGCCTGGCCAAATATGTTCATTTTAATGGTTAAATAAAACATACACATTTACATTCCAAACAAAGTTACTTTAGGCTTCTATATAAAATACTGCAGGCCAGGTATGGTGGCTCACGCCTGCAATCCCAGTATTTTGGGAGGCCAAAGTGGGAGAATCACTTGAGCCCAGGAGTTCGAAACCAGCTTAGGCAACATAGTGAGACCACATCTCCAAAAAAAAAAATTTTTTTTAATGAATAAAATACTGCATATATATTCACTAAAAAAGAATTTATGGCCGGGCGCGGTGGCGGCTCACGCTTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTTGCCGGGCGTGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGAAGAATTGCTTGAGCCTGGGAGACAGAGGTTGCACTGCGCTGAGATCATGCCACTGTACTCCAGCCTGGCCAACACAGTAAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAATTTATGCCAAGCACAGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCAGAGCTGGGCAGATCACTTGAGCTCAGGATTTCAAGACTAACCTGGGCAACGTGACAAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTAGTGCACGTTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCGCTTGAGCCTGGGAGGTGGAAGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGTGTGACAGAGTAAGACCCTGTCTCTAAAAAGAATTTCTGTATATATATTTTTGGGAAGTAACTTCTAACTAATTCAGTTGAGAGGTAGAAAAAAATATAAGCCTTTTATTTTTTGCATTAAACAGTAGAAACATAGAACTCATATTTTATCATTTAGCCTCTAAAATAGCCAAATGTATAACTCAGAAGGAATCATGAAAAGGCTAGATGAAAAGCACCAGTCAGTTAAAATTAAGCTGTACATAAACTTACCAATGAATCTTCGACAGGTGATTCAAGTGGTCCTACAATTTGTTCCTTTATAAAGCAAATATCTTCTTCAGGGATGAGACCATATTGTTCCATGACAGGCTTAATTCCATTAGAATTAATAAGGTGCTCAAACATCATAACTGAGCCTTGTTCATGCTAGGAAAAGTAAGCACAATATGATGTGTTAAAGATTCTAGCCCATTGGGAGCCCTGACTAACAAAATTATCCTCAATTCCAAGTAATTCTGAGATAAAGGTCTATTGCATATTAATTCTCTAGTTTCTAACCACAATCTTAGGAACATTTTTAAAAACCTGTCAGATTTTTCATTTTACTAGTAGTCTACAAACCTTTTACAAAACTTATTTCATAAACATATTTAATGCATTTAATGATATAATCATTTACAGTTCCTAAATGAATATTATAAGATCATGTAGACAGAATTACATTTTAATAAATATCATCATAAAATTGAATTTTATTTTTTCATCAGCCTTTGAACACGTGCAGTTATAAGCTCTGTTAGGCACTACCATCTAGTGGTGAAAAGGGGTAACTGCAAACTTGCCAGTAAAAACAAAGATCTCCCTTGAAATCTCCAATTGGCCTGTTTGCTCATCTCTCTCTGCTCACTCATTCACAATCAATGTAAAGGATCAAATGAACTCCTGAAGACATCTGCCCTTTCCTAGATCCTACCAAAAACTAACTCAAGATGAAAAACAAAACCTGAATTATCCTATAACTATATTTTTTTAAAAAAAGAGACAGGGAATTGCTCTGTTGCCCTGGCTAGAGTCCAGTGATGTGATCATGGGGTCACTGTAGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTGAAACCACAGGTGCACACCACCCTACCCAGCTAATTTTTAGATTTTTTTGTAGAGGCAGGGTCTTGATTTGTTGACCAGGTTGGTCTTGAACTCCTAGGCTCAAATAATCCTCCTGTCTCAGCCTCCCAAAGTGGCAGGATTACAAGCAACTTGCCCTATAACTATTCTTTCCCCGCCCCCGCAGAAACAATTCTTGCTCCAGAAACTATTCTTAAAAACAGAATCAGGGCTGTCAGGCCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCGTTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAACAGTACAAGTTTGGCCAACATGGCAAAACCTCCTGTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTAGGGTGCACCTATAATCCCAGCTACTTGGGGGACTGAGGCAGGACAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCCCTGCACTCCAGCCTGGGTGGGCAACAAAGTGACACTCTGTTTCAAAAGAAAAAAAAAAAAACCCACAAAAACAGAATCAGGCTGGGTGCAGTGGCTCACATTTGTAATCCTAGCATTTTTTTGAGAGGCAAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTCGAGAGCAGCCTGGGCAACAAAGCAAGACCCTGTCTCTACAAAAAGATAAAAAGATTGGCTGGGTATAGTGACATGCGCCTGTGGTCCCAGCTACTTGGGAGACCAAGGTGGGAGGATTGCTTGAGCCCAGGTGGTTGAGGCTGCAGTTAGCTATGTTCATGCCTGTACTCCAGCCTGGGCAACAGAGCAAGACCTTGTCTCCAAAAAACAACAACAACAACAAACAAATTGGCCGGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCGGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGATCATACTGGCCAACATGGTGACACCCCATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAAACGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTACAGGCTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACGAATTGAATCAAGATATACGTAATTACAAAGAGGAAAAATAGTAACTTTATAATGGAGAGATTTGACAGACAATGCCTTAATCAAGTAAG | CTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCTGGAGTTTGAAACCAGCTTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAACACAAAATTAGTTGGGCATGGTAGCAAGTGCCTGTACTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCCTGAACTCAGGAGGCGGAGGTTGCAGTGACCTGAGGTTGTGCCACTGCCCTCTAGCCTGGGCAACAGAGCAAGACACCGTCTCAAAAATAAATAAATAAATAATATAAAATCTAATAATAAACTAACAATGCTTGAATTCATGCATTAAAACAGTACTATCTTTCAAAGTAGCTACATACCTAGTCTAAATAATATGCATTGTTGAATGTATTCTTTGAGCTCCACTTTTTTGGAAATAGGATATTTGCTACAAAACTCATCTGTTTATCTTATACTGTAAGTACACTTGTATATATTTGAGGAAACAGCCCTAAAAATCTCAGGGGGAAATTATTTCCCAACTTTATTTTTAATTAAAAAAATACAAAAGATCAAAAAGGAAACAAAACAGATTTTCCATTGAACTGGTTCAACTTTTTTGTAGATCTTCCTATAAATATTTCAAATATGATTTTTTTTTAAATTTGTAGACAGGATCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTTGCACAATCACAGATCACTGCAGCCTGCCTCAGCCTCCCAAGCATCTGAGACTACAGGCATGAGACAGGGTTTCAGTATTACCCAGGCTGATCTCAAACTCCTGGGCTCAAGTGATCCTCCCATCATGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGAGCCTGGCCAAATATGTTCATTTTAATGGTTAAATAAAACATACACATTTACATTCCAAACAAAGTTACTTTAGGCTTCTATATAAAATACTGCAGGCCAGGTATGGTGGCTCACGCCTGCAATCCCAGTATTTTGGGAGGCCAAAGTGGGAGAATCACTTGAGCCCAGGAGTTCGAAACCAGCTTAGGCAACATAGTGAGACCACATCTCCAAAAAAAAAAATTTTTTTTAATGAATAAAATACTGCATATATATTCACTAAAAAAGAATTTATGGCCGGGCGCGGTGGCGGCTCACGCTTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGATTTGCCGGGCGTGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGAAGAATTGCTTGAGCCTGGGAGACAGAGGTTGCACTGCGCTGAGATCATGCCACTGTACTCCAGCCTGGCCAACACAGTAAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAATTTATGCCAAGCACAGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCAGAGCTGGGCAGATCACTTGAGCTCAGGATTTCAAGACTAACCTGGGCAACGTGACAAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTAGTGCACGTTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCGCTTGAGCCTGGGAGGTGGAAGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGTGTGACAGAGTAAGACCCTGTCTCTAAAAAGAATTTCTGTATATATATTTTTGGGAAGTAACTTCTAACTAATTCAGTTGAGAGGTAGAAAAAAATATAAGCCTTTTATTTTTTGCATTAAACAGTAGAAACATAGAACTCATATTTTATCATTTAGCCTCTAAAATAGCCAAATGTATAACTCAGAAGGAATCATGAAAAGGCTAGATGAAAAGCACCAGTCAGTTAAAATTAAGCTGTACATAAACTTACCAATGAATCTTCGACAGGTGATTCAAGTGGTCCTACAATTTGTTCCTTTATAAAGCAAATATCTTCTTCAGGGATGAGACCATATTGTTCCACGACAGGCTTAATTCCATTAGAATTAATAAGGTGCTCAAACATCATAACTGAGCCTTGTTCATGCTAGGAAAAGTAAGCACAATATGATGTGTTAAAGATTCTAGCCCATTGGGAGCCCTGACTAACAAAATTATCCTCAATTCCAAGTAATTCTGAGATAAAGGTCTATTGCATATTAATTCTCTAGTTTCTAACCACAATCTTAGGAACATTTTTAAAAACCTGTCAGATTTTTCATTTTACTAGTAGTCTACAAACCTTTTACAAAACTTATTTCATAAACATATTTAATGCATTTAATGATATAATCATTTACAGTTCCTAAATGAATATTATAAGATCATGTAGACAGAATTACATTTTAATAAATATCATCATAAAATTGAATTTTATTTTTTCATCAGCCTTTGAACACGTGCAGTTATAAGCTCTGTTAGGCACTACCATCTAGTGGTGAAAAGGGGTAACTGCAAACTTGCCAGTAAAAACAAAGATCTCCCTTGAAATCTCCAATTGGCCTGTTTGCTCATCTCTCTCTGCTCACTCATTCACAATCAATGTAAAGGATCAAATGAACTCCTGAAGACATCTGCCCTTTCCTAGATCCTACCAAAAACTAACTCAAGATGAAAAACAAAACCTGAATTATCCTATAACTATATTTTTTTAAAAAAAGAGACAGGGAATTGCTCTGTTGCCCTGGCTAGAGTCCAGTGATGTGATCATGGGGTCACTGTAGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTGAAACCACAGGTGCACACCACCCTACCCAGCTAATTTTTAGATTTTTTTGTAGAGGCAGGGTCTTGATTTGTTGACCAGGTTGGTCTTGAACTCCTAGGCTCAAATAATCCTCCTGTCTCAGCCTCCCAAAGTGGCAGGATTACAAGCAACTTGCCCTATAACTATTCTTTCCCCGCCCCCGCAGAAACAATTCTTGCTCCAGAAACTATTCTTAAAAACAGAATCAGGGCTGTCAGGCCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCGTTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAACAGTACAAGTTTGGCCAACATGGCAAAACCTCCTGTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTAGGGTGCACCTATAATCCCAGCTACTTGGGGGACTGAGGCAGGACAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCCCTGCACTCCAGCCTGGGTGGGCAACAAAGTGACACTCTGTTTCAAAAGAAAAAAAAAAAAACCCACAAAAACAGAATCAGGCTGGGTGCAGTGGCTCACATTTGTAATCCTAGCATTTTTTTGAGAGGCAAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTCGAGAGCAGCCTGGGCAACAAAGCAAGACCCTGTCTCTACAAAAAGATAAAAAGATTGGCTGGGTATAGTGACATGCGCCTGTGGTCCCAGCTACTTGGGAGACCAAGGTGGGAGGATTGCTTGAGCCCAGGTGGTTGAGGCTGCAGTTAGCTATGTTCATGCCTGTACTCCAGCCTGGGCAACAGAGCAAGACCTTGTCTCCAAAAAACAACAACAACAACAAACAAATTGGCCGGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCGGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGATCATACTGGCCAACATGGTGACACCCCATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAAACGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTACAGGCTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACGAATTGAATCAAGATATACGTAATTACAAAGAGGAAAAATAGTAACTTTATAATGGAGAGATTTGACAGACAATGCCTTAATCAAGTAAG |
Task1_train_27849 | A variant on Chromosome 20 in gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Aicardi-Goutieres syndrome 5 | TGAATGAACATTTGAGTATAGACACATGTTGTGCCTAACTAAAAATGCTTCTACACAAACAGAAAACCAAAGTAATATACTGTGAGTACTTCATGAAAATCTCAAAGACTGTCTATTCTTCCCTGTCCACTTCCTCCTGGCTCTACACTGCATAATGGAAATGCAGACCAACGTCTCAGCTTAGTTGTATGTAACAGAGGCATCGCCTTCTCTAAGATTATGAATGCTTTTTTAACTTACGCATTTCCTGACAGGTAAGAAAATGATCTGGTTTGAAAGAGCAACTCTGTACCAGAGTAAATAGAGAATACAGAAAAATTAAATAATCAAATATACATAATTAGTTGTATCAGCAACCGACCCATTAGCTTTTATTTATTTATTTATTTATTTTGAGACTGATTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGTGCTATCTCAGTTCACTGCAACCTTGGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAGCGTGCGCCACCACGCCTTGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCACCATGTTGCTCAGGCTGGTCTCGAACTCATGATCTCAAGTGATCCGCCTGCCCCGGCCTCCCAAAGTGCTGAGATTGGCCGGGCACGGTGGCTCATGCCTGTAATCTCAGCATTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAAATCAAGACCACCCTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCGACGGAGTGAGACTCCATCTCAAAAAAAAAAAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTGTTAGCTTTTAATTAATATTTAAAAACAAATCCAACTGACCTGTCTATAGATACTTTCATTATTTTTCCAGGAAAGATCTGAGGTGGTTAAGAATACATAAAATAAATAAATTGCAACAAGGTAAATAAAAAGCCTCAATTTTGGGGCTGGGCACAGTGGCTCATACCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGTGGCTCACAAGGTCAGGAGATCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAATTACTAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGTACAGAACTGCTTGAACCTGGGAGGTCGAAGTTGCAGTGAGCCAAGATTACGCCACTGCACTCCAGCCTAGTGAAAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCAATTTTCTCATCAATAAAATAAGGACATTATCATCATTTTGTAAAACTATTTATTCTCTAAAAGATTAAGACAACTATTTCTTTTTTTTCCTGTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGGGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCGATGGTGCAATCTCAGCTCACTGCAACCACCAACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCGCACAATCATGTCTGGCTAATTTTGTATTTGTAGTAAAGATGGGGTTTCACAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGTGATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCTGGCCTAAGATAACTATTTCATGAGACAGAGAAAATACTTAAAAACTGCAAGTTCCCCACCCCATTCCCTTCTTACCCTAGACTATGCTCAAATCGATTGTGTGAAGCTCCTGGAAAAACATAGTAACCACCTCCCAGCTGTTTGATGTATCGAAGACGTTGAAATTGAGGTGTATCAATGATTCGGACGAGGAGAGGGTGGAGCTCAATGTGGCCATGGATAGGATCATTAATTACCTAGAAAATTATGTTTAATTAATACAAATAACGACATGTAAGTCCAACTGAAATTTGTGTGCAGCCATTCCTAATTATAGTGCAAAGTCAAAGCTATTTGATTTTTCAAGTAAAAATACTAACGGAAATGACAAGATGTTAACATCATTACCTTATTTAGGTATCACTACCAGACAGATCAAGTATATTGGATTTGAGTATATTTTACTTCTTCCTAATGGATGTGAATAACAGAAAAATAAGGATTTTGATTTTTTATTATGTATATGACTTAGTCTTTAATAAGTTTGTCTTGTATTCAAGTTAAACATGCATATTCATTTCGATTTAAACACATTCATCCACATCATGTAACCCATATCACTATAGGTATTATGTCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGGTGTGCCACTATGCCCAGCTAATTTTTGTATTTTGAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGCCGCGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAAATTTTTTTTTTTCTAAATGTATCTATACAGCACTCATCATTAAAACAGAAAAGAAAGAAGGGAGGCAGGGAAAGAAAGAAAGATGGAAATTCCTCTACCATATAGATAAGAAATCATGCAGGTCCGAGTGCAGGTGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGAGTTTGAGACTAGTCTAGGCAACATAGTGAGACCCCATCTTTAAAAACAAAAATGCAGTGGCGCACATCTGTAGTCCCGGGTACTCTAGAGGCTGAGGTAGGAAGATCCCTTGAGCCCCAGGGGATCAAGGCTGCAGTAACCTACTATTGTGCCACAACACTTCAGCCTGGGCGACAGAGAGAAACTCTGTCTCAAAAAAAGAAGAAAAAAAGCAAGAAAATAATTTTGTACAGCTGAACAATGTGTTTATGTGTGTGTGTTCTTTTTGTTTTGTTTTTCTTAGAGATAGGGTCTCGCTTTCTCACCAGGCTGCAGTGCGTTGGCTATTCACAGGCACAATCATAGCTTACTGTAGCCTCAAACTCCTAGGCTCCAGGGATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTACAGGCATGTACCACCATTCCTAGCTAATTTATTTTTATTCTTTGTGGAGACAAAGTCTTGCTATATTGCCCAGGCTGACCTCGTGTCCGCCCGCCTCAGCCTCCCGAAGTGCTGGAATTACAGGCATGAGCCACCGCGCCTGGCTAAAATCTACTTTTAAACCATTTAAGGACCTAAAAGCCTTCACTGTAAATTTTTCAGGTTGTAATAACTGTCTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTAGCTCTATCACATAAGCTGGAGTACAATCAGGGCTCATTGTAACCTCTGCCTCCCAAGTTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGAACTATACCACGCCTGGCTAATTTTTCTTTTTTTGGTAGAGATGGGGTTTCTGGCAGGGCATGGTGGCTCATGCTTGTAATGCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGATCAGGAGTTCACGACCAGCCTGACCAACATGATGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCGTCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAGATTCATTGATACATTTGAAAAATTAGTCCTCATTATGTCAAACACTGCACTCCCTCTT | TGAATGAACATTTGAGTATAGACACATGTTGTGCCTAACTAAAAATGCTTCTACACAAACAGAAAACCAAAGTAATATACTGTGAGTACTTCATGAAAATCTCAAAGACTGTCTATTCTTCCCTGTCCACTTCCTCCTGGCTCTACACTGCATAATGGAAATGCAGACCAACGTCTCAGCTTAGTTGTATGTAACAGAGGCATCGCCTTCTCTAAGATTATGAATGCTTTTTTAACTTACGCATTTCCTGACAGGTAAGAAAATGATCTGGTTTGAAAGAGCAACTCTGTACCAGAGTAAATAGAGAATACAGAAAAATTAAATAATCAAATATACATAATTAGTTGTATCAGCAACCGACCCATTAGCTTTTATTTATTTATTTATTTATTTTGAGACTGATTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGTGCTATCTCAGTTCACTGCAACCTTGGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAGCGTGCGCCACCACGCCTTGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCACCATGTTGCTCAGGCTGGTCTCGAACTCATGATCTCAAGTGATCCGCCTGCCCCGGCCTCCCAAAGTGCTGAGATTGGCCGGGCACGGTGGCTCATGCCTGTAATCTCAGCATTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAAATCAAGACCACCCTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCGACGGAGTGAGACTCCATCTCAAAAAAAAAAAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTGTTAGCTTTTAATTAATATTTAAAAACAAATCCAACTGACCTGTCTATAGATACTTTCATTATTTTTCCAGGAAAGATCTGAGGTGGTTAAGAATACATAAAATAAATAAATTGCAACAAGGTAAATAAAAAGCCTCAATTTTGGGGCTGGGCACAGTGGCTCATACCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGTGGCTCACAAGGTCAGGAGATCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAATTACTAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGTACAGAACTGCTTGAACCTGGGAGGTCGAAGTTGCAGTGAGCCAAGATTACGCCACTGCACTCCAGCCTAGTGAAAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCAATTTTCTCATCAATAAAATAAGGACATTATCATCATTTTGTAAAACTATTTATTCTCTAAAAGATTAAGACAACTATTTCTTTTTTTTCCTGTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGGGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCGATGGTGCAATCTCAGCTCACTGCAACCACCAACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCGCACAATCATGTCTGGCTAATTTTGTATTTGTAGTAAAGATGGGGTTTCACAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGTGATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCATGCCTGGCCTAAGATAACTATTTCATGAGACAGAGAAAATACTTAAAAACTGCAAGTTCCCCACCCCATTCCCTTCTTACCCTAGACTATGCTCAAATCGATTGTGTGAAGCTCCTGGAAAAACATAGTAACCACCTCCCAGCTGTTTGATGTATCGAAGACGTTGAAATTGAGGTGTATCAATGATTCGGACGAGGAGAGGGTGGAGCTCAATGTGGCCAGGGATAGGATCATTAATTACCTAGAAAATTATGTTTAATTAATACAAATAACGACATGTAAGTCCAACTGAAATTTGTGTGCAGCCATTCCTAATTATAGTGCAAAGTCAAAGCTATTTGATTTTTCAAGTAAAAATACTAACGGAAATGACAAGATGTTAACATCATTACCTTATTTAGGTATCACTACCAGACAGATCAAGTATATTGGATTTGAGTATATTTTACTTCTTCCTAATGGATGTGAATAACAGAAAAATAAGGATTTTGATTTTTTATTATGTATATGACTTAGTCTTTAATAAGTTTGTCTTGTATTCAAGTTAAACATGCATATTCATTTCGATTTAAACACATTCATCCACATCATGTAACCCATATCACTATAGGTATTATGTCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGGTGTGCCACTATGCCCAGCTAATTTTTGTATTTTGAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGCCGCGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAAATTTTTTTTTTTCTAAATGTATCTATACAGCACTCATCATTAAAACAGAAAAGAAAGAAGGGAGGCAGGGAAAGAAAGAAAGATGGAAATTCCTCTACCATATAGATAAGAAATCATGCAGGTCCGAGTGCAGGTGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGAGTTTGAGACTAGTCTAGGCAACATAGTGAGACCCCATCTTTAAAAACAAAAATGCAGTGGCGCACATCTGTAGTCCCGGGTACTCTAGAGGCTGAGGTAGGAAGATCCCTTGAGCCCCAGGGGATCAAGGCTGCAGTAACCTACTATTGTGCCACAACACTTCAGCCTGGGCGACAGAGAGAAACTCTGTCTCAAAAAAAGAAGAAAAAAAGCAAGAAAATAATTTTGTACAGCTGAACAATGTGTTTATGTGTGTGTGTTCTTTTTGTTTTGTTTTTCTTAGAGATAGGGTCTCGCTTTCTCACCAGGCTGCAGTGCGTTGGCTATTCACAGGCACAATCATAGCTTACTGTAGCCTCAAACTCCTAGGCTCCAGGGATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTACAGGCATGTACCACCATTCCTAGCTAATTTATTTTTATTCTTTGTGGAGACAAAGTCTTGCTATATTGCCCAGGCTGACCTCGTGTCCGCCCGCCTCAGCCTCCCGAAGTGCTGGAATTACAGGCATGAGCCACCGCGCCTGGCTAAAATCTACTTTTAAACCATTTAAGGACCTAAAAGCCTTCACTGTAAATTTTTCAGGTTGTAATAACTGTCTTTTTTGTTTGTTTGTTTTTTGAGACAGAGTCTAGCTCTATCACATAAGCTGGAGTACAATCAGGGCTCATTGTAACCTCTGCCTCCCAAGTTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGAACTATACCACGCCTGGCTAATTTTTCTTTTTTTGGTAGAGATGGGGTTTCTGGCAGGGCATGGTGGCTCATGCTTGTAATGCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGATCAGGAGTTCACGACCAGCCTGACCAACATGATGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCGTCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAGATTCATTGATACATTTGAAAAATTAGTCCTCATTATGTCAAACACTGCACTCCCTCTT |
Task1_train_27850 | This genomic variant is located on Chromosome 20, within the CTNNBL1 (catenin beta like 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias | AAGTCCCCACACCGAGTTCTCACTCCTGAGAGCTCATAGCCCAAACCAGATGTCTGACTGGATGCAATCGTTCACACCTGTAATCCCATCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAACCTAGGAGCTCAAAGAACAGCCGAGGCAACATAGTGAGACCCTGTCTCTACACACACAAAAAAGTTTTAATTAGCTGAGTGTGGTGGCATGCACCTGTAGTCCTAGCTATTTGAGAGGCTAAGGTGGGAGGATCACTGGAGCCCAGAAAGTCGAGACTGCAATGAGCTGTCATTATGCCACTGCACTCCAGACTGGATGACAGTAAGACCCTGTCTCAAACAAACAAAACAAAAAAACAGAGATGTCTTTTTTCCTCTCATTGTCTCATTGGCTGCATAGATGTGTACTGAGCTAGGGCCCTACCTTCACAGAGCTCACAGTCCACTCTCATGAAATAAAGGCTGCAGACAGAGATAGCTGGTGGGGACTGAAGTCAGTATGAAGATGATGGGGAGGAGAGGAGGTCATGTTGCAGAGTGGTTTGTCAAGGTGCTCTCAGCAATTTTAGAAAGGAGCAGTTGTTAGCCTTAAAATCAGGAAAGCCTTTGTTATGGACATAGCTGAAAAATGATGTGAACTTGAACCATACCCCGGAATCCCAAGGGGGGAAGGCAGTAGGGCCCTGAGCTGTCTTGGCAGAAGTGTTCACAGTGCCCAGGATGAGGGGCGAGAGGATTGGGGTTGGGGGATGGTAAAGATGTTAAAAATTGATTGCACAACTCAACATATAAAAGCTGTTAGATTGTACACTTTCAGTGGATGAATTGTATAGTATGTGAATTATATCTCAGTAAAGCTGGGTTTTTTGTTTTTGTTTTTGTTTTTTTAAAGGAATCTACTAGGGAGGACTGGATATGAGGACAGCAAGTCTGAGAGGTCTAGGGTTACAAAGGAGACTCCTGTGACTTAATTAGGGCTTTGGCCTGGGGAGTGTTGGACGTGTGAAATGCAGCATGCCCTCTGACAAAACACCTAAGCCAGAGGGCATATGTACGCAAGTTGGGTGCCTGTGCCATTGGTTTCAGAGTTGTGGAGAAAGGGGACCTTTCTCCCCTGTGTTTAACCTGATTTGGAAGGCAGATTTAAGTATACAGATGCTCCTCAGCTTACGATAACATTGCATCCTGATAAACCCACCATAAATTGAAAATATCATGAGTTGAAAATGCGTGGCTGCCAGGCGTGGTGTCTCACACCTGTAATCCTAGCACTTTGGGAGGCCAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGAGAACTCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCATGAACCAGGGAGGCGGAGGTTGCAGTGTGCCGAGATCGCGCCTTTGCACTCCAGCCTGGGGGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAGAAAAGAAAATGCTTGACTGACTGGGACCTGAGGCTCGTTGCCACTACCAGCCTTGCAGGAGAAGTACAGTTTCTACTGCATGCCTGTCACTCTTACCTCATCATAAAGTCGATCCATGGTAGGTCAGGGGCCAACTGTATCTTACAGAGAGATTATTTATGGAGGCCCAAACCAAAGAGTGAAAAATGAGTGGAAGCAGATAAATAGCTTGGATTTGTGTCCCGTCAGCTTGTTTTTTTTTTTTTTAGCTTTTTTTATATGTGGATGAGATCATATTGGCCCTGATTCGTCAGATAGGAAAAAATAGGCTTTAAGCTTGCCTCCTGGGGCCTCTATAGTCCATTAAGAATGAAGAACATGAAAGATACTTTAAAGGGAGATGTAGACAAATCAAAAAGATGAGGTGATTTTCTTTTGCTGTTGTTATAGTTGCTATTGTTGTGTGTATTATGGCCAGACTAGGAGTCCATTCTTTCCTCCCATTCACTGTCCAGCTTTTATTCCTAAACGTTCATTTGTTTCTAGGACATGGTCCGGCGAGGAGAGATCATCGACAATGACACCGAGGAGGAGTTCTACCTCCGGCGCCTGGATGCGGGGCTCTTTGTTCTCCAGCACATCTGCTACATCATGGCCGAGATCTGCAATGCCAATGTCCCCCAGGTAGGAGGGTCTTCCCCTGGATGGGCTTATCCATCCCTGCCTCCTTCCTCGCCAGCTGCTTAGGTGGACTCTCACTCAGGGAAAGAAGGGGGTCACGCTCTCCTTGAATTCCTTTACTCTACATCAGCCTTTTGTTTCAGGGATGGGGTGAAGTATATCATTTCAAGGTGATACATTCTGGTGTGTCAGGACAAATGGTTGTCTTTCTTTCTCTACCCATTTTTTCCCTTATTAGATTCGCCAGAGGGTTCACCAGATCCTAAACATGCGAGGAAGCTCCATCAAAATTGTCAGGCATATCATCAAGGGTGAGTTGGATGCTACTCATGTCTGGGGCTCCAGAGGATTAGATGATGCTTACTTTCTGAGCCTCTGTCAGTATCCCTGGTATTTGATGTGGAGCGTTTTCTGCACTGAAAGCTTAAGTTGTTGTCCATTTCACTGTGTGTCCAGGTCGTCTTTGTCAGAATACGGAAGACTAGCCTTGTTGTTCTCTGCCTCTTACCCTCCAGTTCCAGAACTTACACCCATAAACAAGAGGCACAAAGGCTTGAAACAGTTGTTAAAATTTTTTAAAAAAGCAAAACAAAAAATTCAATTCCAAACTACACATAGTGGAAGGAAATTGCTTTCTTAGGGAAAAAAAGCAAGGAAATGACAAGAAATACAAACGTCCTTTCTTATCCACAGTTTTGCTTTCAGTTACACACAGTCAACTGTCCAGAAATAGATAAGTACAGTACAATAAGATATTTTGAGAGAGGCCACATTCATATAACTTTTTTATAGTATATTGTTATAATTGTTCTGTTTTATTTAGTTATTGTTGTTAATCTCTTACTGTGCCTAATTTATAAATTAACCTTTATCATAGTTGTGTAGTTATCATAGGTGTGTATCTATAGGGAAAAACATAGTGTACATAGGTTTCAGTACTGTGTGCAGTTTCAGGCATCCATCGGGGGTCTTGGAACATCCGTCGGGATGCAGGGGACTACTGTAACTGGAATTCTGTAGTGAATTGAAGCAATGTGGAGTGGTGGAGAGTATGCCTGCCTTCTGGGCCTAGCTCTGCCTCCTCTAGCTGCTAGCCTGTCACAGCTAGGAGAAATTTTGCAAAGGTTACAGGAGGTACTACAGCATCCAGTCTGTACCTGGCACACAGCGGGTGCTCAGTCAGTGTGGGTTTCCCTCCTCCTCACCCACCCCATGGAGTTCCCCAAATGCTGCTGGATCTTTGACTGGACCTGACTCAGCTGGAGAGGCCTCCAGTCGGTGAGCAAGCCCCCAGTTACAAGGCGGGGCCCCTGTTCTGAGCTCTGAATGCAGCCCCACCGTCAGCCACCTAGGCACTAACTGGAGAGCGCTGGCTGGTACGTGTGGCAGTGGAGGCCCATGTGGGAATTTCCAGTACTGACGATGCCGGAGTTCAGGGAGTGTCCAGATGGACTGGGTAACTCTAGACAAATCAGTGTTCACCTCGGGCCCTCATTCTGCCCATTTCTAAGATGAAGGACTAGGCTAGATTTACTCAGAGAGCTTACCTTTCAGTTGCTTTTAGCTCCCATTCCAGGTGGCGGATGAAATGTGAGGATAAACATAGTCTACACAGTGAAGTGAAGCACGGTTAAGAGCGTGGGCTCTAGGGTCAGAGGCTTGTGGATCCAAATCTTGGCTCTGTTGTTTACTCTGTTACCTCAAGCAAGATACCAGTTGCTCTGTGACCTCCTAGAAAGGGCAAGGGGATTGAATGAGGTGACACAAGTTAACAGTGAACGTTAGTGTGAGTGTTACAAAATACCAGGAAGATCATTGTCATTATTATTTTAAGTGAGGCATGGCCAAAATCCTGTGGGAAGCCTTGTGAGAGAGGTGGCATTGAGCTGGTCTGAGAGGCTAGGACAGAGACAGTC | AAGTCCCCACACCGAGTTCTCACTCCTGAGAGCTCATAGCCCAAACCAGATGTCTGACTGGATGCAATCGTTCACACCTGTAATCCCATCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAACCTAGGAGCTCAAAGAACAGCCGAGGCAACATAGTGAGACCCTGTCTCTACACACACAAAAAAGTTTTAATTAGCTGAGTGTGGTGGCATGCACCTGTAGTCCTAGCTATTTGAGAGGCTAAGGTGGGAGGATCACTGGAGCCCAGAAAGTCGAGACTGCAATGAGCTGTCATTATGCCACTGCACTCCAGACTGGATGACAGTAAGACCCTGTCTCAAACAAACAAAACAAAAAAACAGAGATGTCTTTTTTCCTCTCATTGTCTCATTGGCTGCATAGATGTGTACTGAGCTAGGGCCCTACCTTCACAGAGCTCACAGTCCACTCTCATGAAATAAAGGCTGCAGACAGAGATAGCTGGTGGGGACTGAAGTCAGTATGAAGATGATGGGGAGGAGAGGAGGTCATGTTGCAGAGTGGTTTGTCAAGGTGCTCTCAGCAATTTTAGAAAGGAGCAGTTGTTAGCCTTAAAATCAGGAAAGCCTTTGTTATGGACATAGCTGAAAAATGATGTGAACTTGAACCATACCCCGGAATCCCAAGGGGGGAAGGCAGTAGGGCCCTGAGCTGTCTTGGCAGAAGTGTTCACAGTGCCCAGGATGAGGGGCGAGAGGATTGGGGTTGGGGGATGGTAAAGATGTTAAAAATTGATTGCACAACTCAACATATAAAAGCTGTTAGATTGTACACTTTCAGTGGATGAATTGTATAGTATGTGAATTATATCTCAGTAAAGCTGGGTTTTTTGTTTTTGTTTTTGTTTTTTTAAAGGAATCTACTAGGGAGGACTGGATATGAGGACAGCAAGTCTGAGAGGTCTAGGGTTACAAAGGAGACTCCTGTGACTTAATTAGGGCTTTGGCCTGGGGAGTGTTGGACGTGTGAAATGCAGCATGCCCTCTGACAAAACACCTAAGCCAGAGGGCATATGTACGCAAGTTGGGTGCCTGTGCCATTGGTTTCAGAGTTGTGGAGAAAGGGGACCTTTCTCCCCTGTGTTTAACCTGATTTGGAAGGCAGATTTAAGTATACAGATGCTCCTCAGCTTACGATAACATTGCATCCTGATAAACCCACCATAAATTGAAAATATCATGAGTTGAAAATGCGTGGCTGCCAGGCGTGGTGTCTCACACCTGTAATCCTAGCACTTTGGGAGGCCAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGAGAACTCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCATGAACCAGGGAGGCGGAGGTTGCAGTGTGCCGAGATCGCGCCTTTGCACTCCAGCCTGGGGGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAGAAAAGAAAATGCTTGACTGACTGGGACCTGAGGCTCGTTGCCACTACCAGCCTTGCAGGAGAAGTACAGTTTCTACTGCATGCCTGTCACTCTTACCTCATCATAAAGTCGATCCATGGTAGGTCAGGGGCCAACTGTATCTTACAGAGAGATTATTTATGGAGGCCCAAACCAAAGAGTGAAAAATGAGTGGAAGCAGATAAATAGCTTGGATTTGTGTCCCGTCAGCTTGTTTTTTTTTTTTTTAGCTTTTTTTATATGTGGATGAGATCATATTGGCCCTGATTCGTCAGATAGGAAAAAATAGGCTTTAAGCTTGCCTCCTGGGGCCTCTATAGTCCATTAAGAATGAAGAACATGAAAGATACTTTAAAGGGAGATGTAGACAAATCAAAAAGATGAGGTGATTTTCTTTTGCTGTTGTTATAGTTGCTATTGTTGTGTGTATTATGGCCAGACTAGGAGTCCATTCTTTCCTCCCATTCACTGTCCAGCTTTTATTCCTAAACGTTCATTTGTTTCTAGGACGTGGTCCGGCGAGGAGAGATCATCGACAATGACACCGAGGAGGAGTTCTACCTCCGGCGCCTGGATGCGGGGCTCTTTGTTCTCCAGCACATCTGCTACATCATGGCCGAGATCTGCAATGCCAATGTCCCCCAGGTAGGAGGGTCTTCCCCTGGATGGGCTTATCCATCCCTGCCTCCTTCCTCGCCAGCTGCTTAGGTGGACTCTCACTCAGGGAAAGAAGGGGGTCACGCTCTCCTTGAATTCCTTTACTCTACATCAGCCTTTTGTTTCAGGGATGGGGTGAAGTATATCATTTCAAGGTGATACATTCTGGTGTGTCAGGACAAATGGTTGTCTTTCTTTCTCTACCCATTTTTTCCCTTATTAGATTCGCCAGAGGGTTCACCAGATCCTAAACATGCGAGGAAGCTCCATCAAAATTGTCAGGCATATCATCAAGGGTGAGTTGGATGCTACTCATGTCTGGGGCTCCAGAGGATTAGATGATGCTTACTTTCTGAGCCTCTGTCAGTATCCCTGGTATTTGATGTGGAGCGTTTTCTGCACTGAAAGCTTAAGTTGTTGTCCATTTCACTGTGTGTCCAGGTCGTCTTTGTCAGAATACGGAAGACTAGCCTTGTTGTTCTCTGCCTCTTACCCTCCAGTTCCAGAACTTACACCCATAAACAAGAGGCACAAAGGCTTGAAACAGTTGTTAAAATTTTTTAAAAAAGCAAAACAAAAAATTCAATTCCAAACTACACATAGTGGAAGGAAATTGCTTTCTTAGGGAAAAAAAGCAAGGAAATGACAAGAAATACAAACGTCCTTTCTTATCCACAGTTTTGCTTTCAGTTACACACAGTCAACTGTCCAGAAATAGATAAGTACAGTACAATAAGATATTTTGAGAGAGGCCACATTCATATAACTTTTTTATAGTATATTGTTATAATTGTTCTGTTTTATTTAGTTATTGTTGTTAATCTCTTACTGTGCCTAATTTATAAATTAACCTTTATCATAGTTGTGTAGTTATCATAGGTGTGTATCTATAGGGAAAAACATAGTGTACATAGGTTTCAGTACTGTGTGCAGTTTCAGGCATCCATCGGGGGTCTTGGAACATCCGTCGGGATGCAGGGGACTACTGTAACTGGAATTCTGTAGTGAATTGAAGCAATGTGGAGTGGTGGAGAGTATGCCTGCCTTCTGGGCCTAGCTCTGCCTCCTCTAGCTGCTAGCCTGTCACAGCTAGGAGAAATTTTGCAAAGGTTACAGGAGGTACTACAGCATCCAGTCTGTACCTGGCACACAGCGGGTGCTCAGTCAGTGTGGGTTTCCCTCCTCCTCACCCACCCCATGGAGTTCCCCAAATGCTGCTGGATCTTTGACTGGACCTGACTCAGCTGGAGAGGCCTCCAGTCGGTGAGCAAGCCCCCAGTTACAAGGCGGGGCCCCTGTTCTGAGCTCTGAATGCAGCCCCACCGTCAGCCACCTAGGCACTAACTGGAGAGCGCTGGCTGGTACGTGTGGCAGTGGAGGCCCATGTGGGAATTTCCAGTACTGACGATGCCGGAGTTCAGGGAGTGTCCAGATGGACTGGGTAACTCTAGACAAATCAGTGTTCACCTCGGGCCCTCATTCTGCCCATTTCTAAGATGAAGGACTAGGCTAGATTTACTCAGAGAGCTTACCTTTCAGTTGCTTTTAGCTCCCATTCCAGGTGGCGGATGAAATGTGAGGATAAACATAGTCTACACAGTGAAGTGAAGCACGGTTAAGAGCGTGGGCTCTAGGGTCAGAGGCTTGTGGATCCAAATCTTGGCTCTGTTGTTTACTCTGTTACCTCAAGCAAGATACCAGTTGCTCTGTGACCTCCTAGAAAGGGCAAGGGGATTGAATGAGGTGACACAAGTTAACAGTGAACGTTAGTGTGAGTGTTACAAAATACCAGGAAGATCATTGTCATTATTATTTTAAGTGAGGCATGGCCAAAATCCTGTGGGAAGCCTTGTGAGAGAGGTGGCATTGAGCTGGTCTGAGAGGCTAGGACAGAGACAGTC |
Task1_train_27851 | This sequence change occurs on Chromosome 20, altering TTI1 (TELO2 interacting protein 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurodevelopmental disorder with microcephaly and movement abnormalities | ACACTTGAACGGAATGTGCTGGAGCAAACAAAGGGAGCTGCGGTCAAGTGGTGGGGCTGCGTGTTCCTCCACCTGAGGCTCCCTGAACACCAGCTCAAGATTCAGCAAGGTCCAATTCCGGGTTTAATTGCTTTCAGCAGCAAAAAAGAGAACTAGAAATGAAAAGATAATGAATTGAGAATATTAGCTTATTTGATGGTTCTAAACTTGAAGGATGGGATGGAGTGGGTGTAGGAAAAATAGAATGGATGGGGAATGTGAAAATCAGACCTTTAACTCTTGGTTGTAATAGGCATCTAAAAGGATTTACTTCAAGATAAACTCATTATGTTCTTGAGTTGCACTTTAAGTCACAGCACAATCAGCTCCAGGGGCACCGCCCAGGGAGGACTATTTTCACCCTAAATTGATTCTGTACGGAATAAAAATGCCTGGGGACAGAAGCTGCTTAGGATGCGCCCCTGTGCTCATGAAACTATGACTGATTCTGGGACTAAGGGATGTGACGGGAAAGGGACAGGAAGAAAAAAGGAAATGGGAAATCAAGAGCAAAAAACAGCAAAGGACAATAAATCAATTCAAGAAGATATTACCATCACTCCCAGGGAGTGCAAGGTTTCTAAGGAGCAAGCTGGCTCTCCTCACTGCACAGTCAGAGCAGCCTTTCCACTCCTCAGGGAATGAGTTGACTCCTAACTCCCACCCCACTGAAGAGGATCAGAGATGTGCCTCTAGAAGCTAGGAAGATGCAGGGATTCCGCTGCAGGCGTGAAGCTGGTGAGGCTGAAGGAGCTGCAGGGCTCAGAGCGGCACAGAGTGCCAGGCCCAGCTTTCGCCCCAGCAGCAGACCTACCCTGGGATGGCAGTTCCAGGATGCAGGCTGCTCCCACCTGGAAGGAAAGCTTGGAGAAGAGGGGCAGAGTAGATTTGGGGTCTCATGTCTGGGGAATGCTGTTGTGCTGAGTTTTAGCTCTTAGTCCTAAAGTAACCAGCAACAGCTTCTTCTCCTAGAGGTGATACAGCTTTTCTCAAATAAGCATGGTCAAACTCTTAGAAATTGGAATCATCTAGTTTCAGAATCAGAAAAGGCCCTTTAAGCCATTAGTCTGGCAACTCTTAAGGTTCTTCGGGTCACAGATTCCTATTAGAACCTATGAATGGTTCCTATTAGAAAAAGGCACATGTGCACCTGCCTGCACACAAACAATTTTGCTTTGCACTTGTGAGGGTTCATGGCACCGATGCCCATCTAAGACCTGCCGTGGAGTCGACATATGCCATATCAGGAACCCAGCACTTTCACTTTGCTGTTGAAGAAGCCAAGGCATGAAGAAGTGCCAGGCACCTGGTCTCCAGGCCTAGAAGCAGATTCCCCTCCAACCAGGAGGGTGCTGAGTCCTCTCTAGCACACCGTCTTTCTGCTTCTTGACCCTCTGGAATTGTTGCTGACTTTGCAGCAGAGGAAAAGGTTACTGGCAAAGAGAAACACATCTAGTAAAAATACCATCTCTAGTGCTGGCACAGTTAAAGAATTATCTTAACCTGGCAGGGTGACAGAGAAAAGAGCAGAGATGCCTCAACTCTGCTTGCCATTAGCAAATCATCTGTAATTTAGAACAAACGTAAAGGGATGCGGGTGATCAGGCAGACGTACCTCCTGGCAGCCTCTTGTAATTTCACGGGCTGTTTGACACTGAGGTAAATCAAGCAGGCATCAGCCACTTTATTCAGGTCACCCTCACCTGCAGAAAAGAAAAACAAAACAAGCATCAGCCCTTACACTTCATTTGGGACAAGCAGTGACCAACTGTGTCTGGAGAAACTGCAACAGCTAGGCAAGATGCTCTGGGCTCTCTACTCCATCCCGCCAAAGAACACATCAAGATAAATGGACAAATGAGGCCAAAATAAGACGGAAGGAGGTACACAGAGGGGAGGGGAGGGGGGCACGACTGAGCAGAGGGCATGATGGCAGGGGTGAGACAGATGCTAAGTGTGTGTGTTCAGGTGGAACTGCCTGGTACCCACCTAGGTCCAGTCTCTCACAGAGGGGGCCCAGGCCCTGTAAGACAGCCAGCTGCAACTTGAAGGCCAGCGTGTGCGAGTAAACTGGTCCAGCCCTGGCACTGATGGGGGCCTGGGTGACTAGGGAGCCAGCCAGCTTTGGCAGGACATCTTTGCAGAACCGGCTGCGAAGAAAGTCACCACACTTGCTTCCCAGGGTACGTAAAACCTGCAGAAACAGCCTCCAACCTGGTGAGTGAACATTGCCAAGGCAGCAAGAGAGCTAAAGAATGCTTGGTAATTCGATTTCATCTAGGTCTCTGCTTGGGGGAAAAAAAAAATAGAATTACTGCTGTTAATTCCTTGCCCATGGTTTGTGATTCTGACAGTTATGAATTTGGAGGTCTCTGCTCCCAAGGCATGGCTGCTTCTACCCATAAATACAGATTACATGGGGAATAATTCAAAGGAATCTTGGGTTGGATGAATAATATGATTAATATCTTGATTTCCCTCCCATTTTTGTTAAAAAAAAAAAAAAGAGAAGAGCTTAAAGCAGTTCACATAGATCATTTCTTGAATCTTCCTAACATCCCTTGAGAAAATATGTATGCTTTAAACTCTAGCTAGCTGAGCAAACACAAATACTATGGTCCAGCTGCTGCCACATGCAGGCATCAGGAGGTTAGTGACTGGGCCGAGGTCCCTGGGCTGAACCAAGGCAGGGTCCCTGAAGTTGCAGCCGACTCGGTGTTCCTTCTGTTCAGCTGCACAATCTCTTATGCACATCACCCTCATTCTATCTTTCAGAACAGATAGTTTCTTTGCATGTCTTGTTTTAAACTTTCTCTAGCAGAACATATTGAAATGTTTTGCCCTGCTGCACAAGACTGAGTATACAGGATAATAGGAATTTCTTTAAAAATTGGTAAGCAAGGCATAACCAGCACAGTGTTTGCTCATTTTGCAGAGAACAAGGCTCTCATTTTAGGTCCCTCAGCTGAATGGCACAGCTTCTATAGACCTCAGTGTCATCATCGTGTCTGCGCATGGGGAAAGCAGCCTCAGTTATTGTGTACACATCTTTATTTTTTTTCATTTTTCTATGCTTGCTGTTATTTCAGACAACCTATTAATTCTCACCAAACCCCGCCCTGCAGTACATCTGGATAAGATTTAGCAATACCACCTCCCTCTCCCTTAATCTCTTTCTTTTTTCGAGATGGAGTCTCACTCTGTCGCACAGGCTGGATGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGAAGCCCGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACTGCGCCCAGGTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTTTTGAACTCCTGACCTTGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGACTGGCCTAATCTCCCTCTTTCTTTGGCACACATACATACACACACACACGTATCATTTTGTGCATTTTGTTTTGGGAAAAAAACATTAACAATTTTTAATATTTTAATTTGGTCTAGTATATGCTGAAGAATTTACAGAAGATCAAACTACTTTGGCCAACGGTATCTGGTGCATTACCAGCTTCATTTTGTGTCCCTACAGATCTTTTCTCTCTGCCTCATCTTGCGCACCTTCTTCTAATTTATGGCAGCTCGCTGTGGTATGTATCTCTGCAGGTTGCCTTAAGGGCTTTTTAGAACAAGAAAGGATATAAATAAGCTAAAATATCCGTGCTAATGTAAGCCAAACTAAGCCAGGGAGAATAATACCTTACATATATATAGGACTGTTAGCTTTTCAAAGCATTTCACCAAACAGTCCCATTTTATCCCTGACAACACTATGAGAAAGGTGGGCTAGGTGTTCCTAAGCCCAACACGAAAATGGGTGGTCCTGGGTTTTGTCAGCATCACTCAGCTGGGCAGAGGATGCCCACTGCTAGAACCTCAGCCCCTTCGCCTTGACTCCTGTGCAGTGCAAATATGGTGTGAACTC | ACACTTGAACGGAATGTGCTGGAGCAAACAAAGGGAGCTGCGGTCAAGTGGTGGGGCTGCGTGTTCCTCCACCTGAGGCTCCCTGAACACCAGCTCAAGATTCAGCAAGGTCCAATTCCGGGTTTAATTGCTTTCAGCAGCAAAAAAGAGAACTAGAAATGAAAAGATAATGAATTGAGAATATTAGCTTATTTGATGGTTCTAAACTTGAAGGATGGGATGGAGTGGGTGTAGGAAAAATAGAATGGATGGGGAATGTGAAAATCAGACCTTTAACTCTTGGTTGTAATAGGCATCTAAAAGGATTTACTTCAAGATAAACTCATTATGTTCTTGAGTTGCACTTTAAGTCACAGCACAATCAGCTCCAGGGGCACCGCCCAGGGAGGACTATTTTCACCCTAAATTGATTCTGTACGGAATAAAAATGCCTGGGGACAGAAGCTGCTTAGGATGCGCCCCTGTGCTCATGAAACTATGACTGATTCTGGGACTAAGGGATGTGACGGGAAAGGGACAGGAAGAAAAAAGGAAATGGGAAATCAAGAGCAAAAAACAGCAAAGGACAATAAATCAATTCAAGAAGATATTACCATCACTCCCAGGGAGTGCAAGGTTTCTAAGGAGCAAGCTGGCTCTCCTCACTGCACAGTCAGAGCAGCCTTTCCACTCCTCAGGGAATGAGTTGACTCCTAACTCCCACCCCACTGAAGAGGATCAGAGATGTGCCTCTAGAAGCTAGGAAGATGCAGGGATTCCGCTGCAGGCGTGAAGCTGGTGAGGCTGAAGGAGCTGCAGGGCTCAGAGCGGCACAGAGTGCCAGGCCCAGCTTTCGCCCCAGCAGCAGACCTACCCTGGGATGGCAGTTCCAGGATGCAGGCTGCTCCCACCTGGAAGGAAAGCTTGGAGAAGAGGGGCAGAGTAGATTTGGGGTCTCATGTCTGGGGAATGCTGTTGTGCTGAGTTTTAGCTCTTAGTCCTAAAGTAACCAGCAACAGCTTCTTCTCCTAGAGGTGATACAGCTTTTCTCAAATAAGCATGGTCAAACTCTTAGAAATTGGAATCATCTAGTTTCAGAATCAGAAAAGGCCCTTTAAGCCATTAGTCTGGCAACTCTTAAGGTTCTTCGGGTCACAGATTCCTATTAGAACCTATGAATGGTTCCTATTAGAAAAAGGCACATGTGCACCTGCCTGCACACAAACAATTTTGCTTTGCACTTGTGAGGGTTCATGGCACCGATGCCCATCTAAGACCTGCCGTGGAGTCGACATATGCCATATCAGGAACCCAGCACTTTCACTTTGCTGTTGAAGAAGCCAAGGCATGAAGAAGTGCCAGGCACCTGGTCTCCAGGCCTAGAAGCAGATTCCCCTCCAACCAGGAGGGTGCTGAGTCCTCTCTAGCACACCGTCTTTCTGCTTCTTGACCCTCTGGAATTGTTGCTGACTTTGCAGCAGAGGAAAAGGTTACTGGCAAAGAGAAACACATCTAGTAAAAATACCATCTCTAGTGCTGGCACAGTTAAAGAATTATCTTAACCTGGCAGGGTGACAGAGAAAAGAGCAGAGATGCCTCAACTCTGCTTGCCATTAGCAAATCATCTGTAATTTAGAACAAACGTAAAGGGATGCGGGTGATCAGGCAGACGTACCTCCTGGCAGCCTCTTGTAATTTCACGGGCTGTTTGACACTGAGGTAAATCAAGCAGGCATCAGCCACTTTATTCAGGTCACCCTCACCTGCAGAAAAGAAAAACAAAACAAGCATCAGCCCTTACACTTCATTTGGGACAAGCAGTGACCAACTGTGTCTGGAGAAACTGCAACAGCTAGGCAAGATGCTCTGGGCTCTCTACTCCATCCCGCCAAAGAACACATCAAGATAAATGGACAAATGAGGCCAAAATAAGACGGAAGGAGGTACACAGAGGGGAGGGGAGGGGGGCACGACTGAGCAGAGGGCATGATGGCAGGGGTGAGACAGATGCTAAGTGTGTGTGTTCAGGTGGAACTGCCTGGTACCCACCTAGGTCCAGTCTCTCACAGCGGGGGCCCAGGCCCTGTAAGACAGCCAGCTGCAACTTGAAGGCCAGCGTGTGCGAGTAAACTGGTCCAGCCCTGGCACTGATGGGGGCCTGGGTGACTAGGGAGCCAGCCAGCTTTGGCAGGACATCTTTGCAGAACCGGCTGCGAAGAAAGTCACCACACTTGCTTCCCAGGGTACGTAAAACCTGCAGAAACAGCCTCCAACCTGGTGAGTGAACATTGCCAAGGCAGCAAGAGAGCTAAAGAATGCTTGGTAATTCGATTTCATCTAGGTCTCTGCTTGGGGGAAAAAAAAAATAGAATTACTGCTGTTAATTCCTTGCCCATGGTTTGTGATTCTGACAGTTATGAATTTGGAGGTCTCTGCTCCCAAGGCATGGCTGCTTCTACCCATAAATACAGATTACATGGGGAATAATTCAAAGGAATCTTGGGTTGGATGAATAATATGATTAATATCTTGATTTCCCTCCCATTTTTGTTAAAAAAAAAAAAAAGAGAAGAGCTTAAAGCAGTTCACATAGATCATTTCTTGAATCTTCCTAACATCCCTTGAGAAAATATGTATGCTTTAAACTCTAGCTAGCTGAGCAAACACAAATACTATGGTCCAGCTGCTGCCACATGCAGGCATCAGGAGGTTAGTGACTGGGCCGAGGTCCCTGGGCTGAACCAAGGCAGGGTCCCTGAAGTTGCAGCCGACTCGGTGTTCCTTCTGTTCAGCTGCACAATCTCTTATGCACATCACCCTCATTCTATCTTTCAGAACAGATAGTTTCTTTGCATGTCTTGTTTTAAACTTTCTCTAGCAGAACATATTGAAATGTTTTGCCCTGCTGCACAAGACTGAGTATACAGGATAATAGGAATTTCTTTAAAAATTGGTAAGCAAGGCATAACCAGCACAGTGTTTGCTCATTTTGCAGAGAACAAGGCTCTCATTTTAGGTCCCTCAGCTGAATGGCACAGCTTCTATAGACCTCAGTGTCATCATCGTGTCTGCGCATGGGGAAAGCAGCCTCAGTTATTGTGTACACATCTTTATTTTTTTTCATTTTTCTATGCTTGCTGTTATTTCAGACAACCTATTAATTCTCACCAAACCCCGCCCTGCAGTACATCTGGATAAGATTTAGCAATACCACCTCCCTCTCCCTTAATCTCTTTCTTTTTTCGAGATGGAGTCTCACTCTGTCGCACAGGCTGGATGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGAAGCCCGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCTGCCACTGCGCCCAGGTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTTTTGAACTCCTGACCTTGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGACTGGCCTAATCTCCCTCTTTCTTTGGCACACATACATACACACACACACGTATCATTTTGTGCATTTTGTTTTGGGAAAAAAACATTAACAATTTTTAATATTTTAATTTGGTCTAGTATATGCTGAAGAATTTACAGAAGATCAAACTACTTTGGCCAACGGTATCTGGTGCATTACCAGCTTCATTTTGTGTCCCTACAGATCTTTTCTCTCTGCCTCATCTTGCGCACCTTCTTCTAATTTATGGCAGCTCGCTGTGGTATGTATCTCTGCAGGTTGCCTTAAGGGCTTTTTAGAACAAGAAAGGATATAAATAAGCTAAAATATCCGTGCTAATGTAAGCCAAACTAAGCCAGGGAGAATAATACCTTACATATATATAGGACTGTTAGCTTTTCAAAGCATTTCACCAAACAGTCCCATTTTATCCCTGACAACACTATGAGAAAGGTGGGCTAGGTGTTCCTAAGCCCAACACGAAAATGGGTGGTCCTGGGTTTTGTCAGCATCACTCAGCTGGGCAGAGGATGCCCACTGCTAGAACCTCAGCCCCTTCGCCTTGACTCCTGTGCAGTGCAAATATGGTGTGAACTC |
Task1_train_27852 | A mutation on Chromosome 20 affecting TTI1 (TELO2 interacting protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental disorder with microcephaly and movement abnormalities | CCCCTTCTTCCTTCTGGGCCTTCCCACCTGAATTTTTATTTATTTATTTTTTTTTTTGAGACAGTCTTCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCCTGACCTCCCTGGGCTTAGGTGATGCTTCTACCTCCCAAGTAGCTGGAATTACAGGCATGTACCGCCACTCCCAACTAATTTTTTTCCATTTTTAGTAGAGACGAGGCCATACTAGGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCAGCCTCCCAAAGTGTTGAGATTACAGGTGTGAGCCACGGCACCCGGCCTGAATGTTCTTAAAAATAAATGTGATAGCCCCCTATGTGTTGATGGGCCTTTCTCATCCTTCAGGTTTTGGCTTTAGTGTTGCTTCCTCAGAGAGGCCCTCCCTGACCACTGAACTTATAGGAGCCTGTGTCTGTTACACTGAGGTGTTTATTTCCTTCACGGTGTTTATCAGAATCTGCCGTGAGCTTGTCTAATGATTTGTTTACTTGTTTATCATCTCTCTTGCAGTGGCAGGGAAGTTCCATGAGTTTATTCGTCTTTTTCTCTGCTCTATCTTCATTACTTAGCACAGTGTCTGACATATGGCAGGCACTCTTGAATGAATGAATGAAAAAGGAACATTTATGCTGAACGTGAATGCTCATGCATGAATAAACAAACACTGGAAATGGCATTAGCTACAGGGCAGTGCACTGTCCCTGCCCCAGTTACCTTCCATGAGAATGTTTCTTACAAGGTCTTGGCTTTTTCAACTGACAAAATGAGGCCAGTGACCATTCCACCTTCTCAGAGGCTATTAGCAGTACTGAGATAAATACTGGAAATATGCTCTTTAAATAAAAGGGACCCAAGCTATACAGCTTATTATTTTCTCATTGAAAGATTGACTATCCAGTTGAAGGATTCCTTTCCTTATAATTGAAGTCCAAAATTTTGCCATTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGGCCATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGTCTGGCTAATTTTTTTTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCCCAGCCAATTTTGCCATTCTAATAGTGGCTAACATCTTCGGTAAGCACCCAATAGGATCAGTGGGAAGAAGAGAAACTTAAACCAACTCACACAATTAAAAGGTTAAAAGGAAGTTTCTAGACCTGCTCTGTCCAGTATGGTAGTCACTAGCTACATGTGGCTATTAAAATTAAGTAAAATATAGAATTCAGTTCCTCAGGTGCACGAACCACATGTGTATAGTGGTAACTGTACTGGATAGAACGAATAAAGATTATTTCTATCATCAAAGAAACTTCTCTTAGTACCGTTCTAGACAATATGTGACTGAATAATTCACGTTATATCTGTTCTTCATTAGCATAGATACTGCTAACTCTATGCATCATCAGAAGCAGTTTGCTATACTGGAAAGAACAAAACTGTCATAAATCCTGATTTTATCATTTATTAATTGTGTGACCCTGGCTAAGTAGGATGTCACTGACCCTTAGTTTTTCTTATTTATAAAATAGAAATAATATTTACATTTATTCTGCAGGGTTTATACCCTGGCATAGAGCAGGAGCTCAATAAATGGTAGAGATTACTGAAAGTATAAAAGATAAACAGTGAAACCCCCCCATAACCTATGGGACTGGAGAGAAAATGATTAAAACGTCCTCCATAGCATCACCACAAACAATGCAAAAAACGAGGCTAAGCAAACTAGGAGACTGAGTCCTGTCCCCCACACATCAGCATTAAAAAGGGCTCTCAATGTACCTAATGCTGCCATCAGAGCATGCAGAACGCTGACAAAGGAAGCAGCTCTCTTATCGTAAAATTGGTCCAGGGTGGCCAAGACATCTTGAACCACATCTGCCACCAAAGGAAGCAGGTTAGCATCTGAGTTCCGCAGCATGACTTCCAGGACCTTTGGGGTATGAGGATGCAGAGCCAGATGACGCAGATTTAAAGAGATCCCATTCACTAAATAGTCTGAATTTTGATTGATCAGGTGCTGCAGGGAGTCGTAGCCACAAGCACGGCAAACGTCCATCATGGTGCTGGTAGCCACCTGACTAATGAGTAGGGTTTGGTCTCCAGCCTTCTCCAGTACTGGATAAAGGGCTGACATCAAGAGCAAACAGAAGTCTTTTCCTAGTGCATATGCAAACTGGCCAATTCCTTCCAACTGAATGCATATTTGCCAGATGTTACTGTTCATGGAGCAAATAGTGGGACTTGGCTTTGAGAAGGCTAGAAAAGATGTAACTTGGCAGGTGTGTTCACCAGACGTGATGGCTTGGAGGCCTGGGTGCTCCATCATCAGCTCCTCTCCCATTTCCTCAGTTTCAAGACAGGTAACCAAATACCAATTTTCTTGACTTGTGTATTCTTCAAGTATAGATGTCACAATCTCTCTCAGTTCTTCTGGGTTTGTTTTAATATGTTTTTCGTGAAGATCCTCAACCTCCAGCCCAGCAGCCCCTGTAACCAGTTCATTAAGGATCATGGCAGCTTGCTTCCGGTAAACCACAGATTGATGGTAAAGTTCCATAAAGTGATCCACAAGCAAATAAAGATTCCCATAATAACCAAGTAGCTGACAAACCTGCCTCAAGAGCATGAAGATTCTCTCATCAGTGAAGAAGCGGAAATATCTCCTCTGGATGCGGTTCCAAGGCTGTGTGGCTGAGGTCTTTGGAGAAGCATTCAGATCATCAGAGTTCCAACGCCGTTCCTCAACAATCTTGATGTCAGCCACGTCTAGCTCTAGAACTTGGATGAGTGCTTTGGAAAGCCGCTGGAGATGGGCCACAGAGTTGAGGACAAAGTTTATTTTTGGGCCCAAGAGTTTCAGATAACCAAGTAACAAGGAAAGAGTAGAGAATTTGCCCTGGTCATCTTGGGAGTTCATTAGGCGAGGAAGAGATGTGGCAAGGGAATGCAGGCTTTCTGACAAGATGTCAGCGAGGGCTTTGTTGCCCACCACTACTTTTTGATCTGCAAAATGTCTCAGAACTTTATTGCACTGGGCTTGGATTTCAGGACTCTCATCATTTACTAGTCCCACTAAGGCCTTCAGAAGGGGACCAGCACATTCGACCAATGATTGACTGCACTTCAAAAGAAGGTCCTCCACAAGTTCTACCAGTTCCAGTCTCACCTTCCAGTGTGGGTGAACAGAAACACACTCAATTATCTTTTTAATAAGGATAGTCAACTTGTCGCCAGTCTTTTTTACCCAATCTGCTTCCCTGTAAACCATCAGCTCTGCTACTCTGTGCTCAACTGCAGGTTTTGCTTGGACCTTTGAGATTCTTTTGAGCTGTTCATCAGCCATAATGAAGCTCACTGTCTTGTAAAAGATCTTTAGGGAAGATACGACAATGCTGTGACCTTGTTTAAAGTCTCCTGTGATAAGCCTGGTCAGTGCAGTTGAGATTCCAGGTAAAAAAGAGGCAAACAAATCCCCCAGCTGCTTTTGTTCAAGTTCATCCAATGACCTTGGATGGTCCTGACAATCACACTGCAAGAGTAGAACCTGTAAACATTTTAAGGCAGCAATTTTAATTTGCTTTGATTTCTCCTGTTCTGCAAGGCCTAACAGTAAAGATACAGCAAATCCTAAACGTGGCAGAATGGAGGGCTCATAAAAAGTCAGAATGATGTCCCCATAAGCTGAGTGCATTAATGTGCTAAGTCCCTGGATCACAGCCAATTTCAACTCCTCGGACACAGCCGCAGGTTTTTGGGAGCTGGGTGAATACAGACAAGCAGAGAGTTCTGAAAAGAGTTCCTGGAGAAGCTCCTGTTCTTTCACACATGT | CCCCTTCTTCCTTCTGGGCCTTCCCACCTGAATTTTTATTTATTTATTTTTTTTTTTGAGACAGTCTTCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCCTGACCTCCCTGGGCTTAGGTGATGCTTCTACCTCCCAAGTAGCTGGAATTACAGGCATGTACCGCCACTCCCAACTAATTTTTTTCCATTTTTAGTAGAGACGAGGCCATACTAGGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCCACCTCAGCCTCCCAAAGTGTTGAGATTACAGGTGTGAGCCACGGCACCCGGCCTGAATGTTCTTAAAAATAAATGTGATAGCCCCCTATGTGTTGATGGGCCTTTCTCATCCTTCAGGTTTTGGCTTTAGTGTTGCTTCCTCAGAGAGGCCCTCCCTGACCACTGAACTTATAGGAGCCTGTGTCTGTTACACTGAGGTGTTTATTTCCTTCACGGTGTTTATCAGAATCTGCCGTGAGCTTGTCTAATGATTTGTTTACTTGTTTATCATCTCTCTTGCAGTGGCAGGGAAGTTCCATGAGTTTATTCGTCTTTTTCTCTGCTCTATCTTCATTACTTAGCACAGTGTCTGACATATGGCAGGCACTCTTGAATGAATGAATGAAAAAGGAACATTTATGCTGAACGTGAATGCTCATGCATGAATAAACAAACACTGGAAATGGCATTAGCTACAGGGCAGTGCACTGTCCCTGCCCCAGTTACCTTCCATGAGAATGTTTCTTACAAGGTCTTGGCTTTTTCAACTGACAAAATGAGGCCAGTGACCATTCCACCTTCTCAGAGGCTATTAGCAGTACTGAGATAAATACTGGAAATATGCTCTTTAAATAAAAGGGACCCAAGCTATACAGCTTATTATTTTCTCATTGAAAGATTGACTATCCAGTTGAAGGATTCCTTTCCTTATAATTGAAGTCCAAAATTTTGCCATTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGGCCATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGTCTGGCTAATTTTTTTTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCCCAGCCAATTTTGCCATTCTAATAGTGGCTAACATCTTCGGTAAGCACCCAATAGGATCAGTGGGAAGAAGAGAAACTTAAACCAACTCACACAATTAAAAGGTTAAAAGGAAGTTTCTAGACCTGCTCTGTCCAGTATGGTAGTCACTAGCTACATGTGGCTATTAAAATTAAGTAAAATATAGAATTCAGTTCCTCAGGTGCACGAACCACATGTGTATAGTGGTAACTGTACTGGATAGAACGAATAAAGATTATTTCTATCATCAAAGAAACTTCTCTTAGTACCGTTCTAGACAATATGTGACTGAATAATTCACGTTATATCTGTTCTTCATTAGCATAGATACTGCTAACTCTATGCATCATCAGAAGCAGTTTGCTATACTGGAAAGAACAAAACTGTCATAAATCCTGATTTTATCATTTATTAATTGTGTGACCCTGGCTAAGTAGGATGTCACTGACCCTTAGTTTTTCTTATTTATAAAATAGAAATAATATTTACATTTATTCTGCAGGGTTTATACCCTGGCATAGAGCAGGAGCTCAATAAATGGTAGAGATTACTGAAAGTATAAAAGATAAACAGTGAAACCCCCCCATAACCTATGGGACTGGAGAGAAAATGATTAAAACGTCCTCCATAGCATCACCACAAACAATGCAAAAAACGAGGCTAAGCAAACTAGGAGACTGAGTCCTGTCCCCCACACATCAGCATTAAAAAGGGCTCTCAATGTACCTGATGCTGCCATCAGAGCATGCAGAACGCTGACAAAGGAAGCAGCTCTCTTATCGTAAAATTGGTCCAGGGTGGCCAAGACATCTTGAACCACATCTGCCACCAAAGGAAGCAGGTTAGCATCTGAGTTCCGCAGCATGACTTCCAGGACCTTTGGGGTATGAGGATGCAGAGCCAGATGACGCAGATTTAAAGAGATCCCATTCACTAAATAGTCTGAATTTTGATTGATCAGGTGCTGCAGGGAGTCGTAGCCACAAGCACGGCAAACGTCCATCATGGTGCTGGTAGCCACCTGACTAATGAGTAGGGTTTGGTCTCCAGCCTTCTCCAGTACTGGATAAAGGGCTGACATCAAGAGCAAACAGAAGTCTTTTCCTAGTGCATATGCAAACTGGCCAATTCCTTCCAACTGAATGCATATTTGCCAGATGTTACTGTTCATGGAGCAAATAGTGGGACTTGGCTTTGAGAAGGCTAGAAAAGATGTAACTTGGCAGGTGTGTTCACCAGACGTGATGGCTTGGAGGCCTGGGTGCTCCATCATCAGCTCCTCTCCCATTTCCTCAGTTTCAAGACAGGTAACCAAATACCAATTTTCTTGACTTGTGTATTCTTCAAGTATAGATGTCACAATCTCTCTCAGTTCTTCTGGGTTTGTTTTAATATGTTTTTCGTGAAGATCCTCAACCTCCAGCCCAGCAGCCCCTGTAACCAGTTCATTAAGGATCATGGCAGCTTGCTTCCGGTAAACCACAGATTGATGGTAAAGTTCCATAAAGTGATCCACAAGCAAATAAAGATTCCCATAATAACCAAGTAGCTGACAAACCTGCCTCAAGAGCATGAAGATTCTCTCATCAGTGAAGAAGCGGAAATATCTCCTCTGGATGCGGTTCCAAGGCTGTGTGGCTGAGGTCTTTGGAGAAGCATTCAGATCATCAGAGTTCCAACGCCGTTCCTCAACAATCTTGATGTCAGCCACGTCTAGCTCTAGAACTTGGATGAGTGCTTTGGAAAGCCGCTGGAGATGGGCCACAGAGTTGAGGACAAAGTTTATTTTTGGGCCCAAGAGTTTCAGATAACCAAGTAACAAGGAAAGAGTAGAGAATTTGCCCTGGTCATCTTGGGAGTTCATTAGGCGAGGAAGAGATGTGGCAAGGGAATGCAGGCTTTCTGACAAGATGTCAGCGAGGGCTTTGTTGCCCACCACTACTTTTTGATCTGCAAAATGTCTCAGAACTTTATTGCACTGGGCTTGGATTTCAGGACTCTCATCATTTACTAGTCCCACTAAGGCCTTCAGAAGGGGACCAGCACATTCGACCAATGATTGACTGCACTTCAAAAGAAGGTCCTCCACAAGTTCTACCAGTTCCAGTCTCACCTTCCAGTGTGGGTGAACAGAAACACACTCAATTATCTTTTTAATAAGGATAGTCAACTTGTCGCCAGTCTTTTTTACCCAATCTGCTTCCCTGTAAACCATCAGCTCTGCTACTCTGTGCTCAACTGCAGGTTTTGCTTGGACCTTTGAGATTCTTTTGAGCTGTTCATCAGCCATAATGAAGCTCACTGTCTTGTAAAAGATCTTTAGGGAAGATACGACAATGCTGTGACCTTGTTTAAAGTCTCCTGTGATAAGCCTGGTCAGTGCAGTTGAGATTCCAGGTAAAAAAGAGGCAAACAAATCCCCCAGCTGCTTTTGTTCAAGTTCATCCAATGACCTTGGATGGTCCTGACAATCACACTGCAAGAGTAGAACCTGTAAACATTTTAAGGCAGCAATTTTAATTTGCTTTGATTTCTCCTGTTCTGCAAGGCCTAACAGTAAAGATACAGCAAATCCTAAACGTGGCAGAATGGAGGGCTCATAAAAAGTCAGAATGATGTCCCCATAAGCTGAGTGCATTAATGTGCTAAGTCCCTGGATCACAGCCAATTTCAACTCCTCGGACACAGCCGCAGGTTTTTGGGAGCTGGGTGAATACAGACAAGCAGAGAGTTCTGAAAAGAGTTCCTGGAGAAGCTCCTGTTCTTTCACACATGT |
Task1_train_27853 | A mutation on Chromosome 20 affecting TTI1 (TELO2 interacting protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neurodevelopmental disorder with microcephaly and movement abnormalities | TTAAAATTAAGTAAAATATAGAATTCAGTTCCTCAGGTGCACGAACCACATGTGTATAGTGGTAACTGTACTGGATAGAACGAATAAAGATTATTTCTATCATCAAAGAAACTTCTCTTAGTACCGTTCTAGACAATATGTGACTGAATAATTCACGTTATATCTGTTCTTCATTAGCATAGATACTGCTAACTCTATGCATCATCAGAAGCAGTTTGCTATACTGGAAAGAACAAAACTGTCATAAATCCTGATTTTATCATTTATTAATTGTGTGACCCTGGCTAAGTAGGATGTCACTGACCCTTAGTTTTTCTTATTTATAAAATAGAAATAATATTTACATTTATTCTGCAGGGTTTATACCCTGGCATAGAGCAGGAGCTCAATAAATGGTAGAGATTACTGAAAGTATAAAAGATAAACAGTGAAACCCCCCCATAACCTATGGGACTGGAGAGAAAATGATTAAAACGTCCTCCATAGCATCACCACAAACAATGCAAAAAACGAGGCTAAGCAAACTAGGAGACTGAGTCCTGTCCCCCACACATCAGCATTAAAAAGGGCTCTCAATGTACCTAATGCTGCCATCAGAGCATGCAGAACGCTGACAAAGGAAGCAGCTCTCTTATCGTAAAATTGGTCCAGGGTGGCCAAGACATCTTGAACCACATCTGCCACCAAAGGAAGCAGGTTAGCATCTGAGTTCCGCAGCATGACTTCCAGGACCTTTGGGGTATGAGGATGCAGAGCCAGATGACGCAGATTTAAAGAGATCCCATTCACTAAATAGTCTGAATTTTGATTGATCAGGTGCTGCAGGGAGTCGTAGCCACAAGCACGGCAAACGTCCATCATGGTGCTGGTAGCCACCTGACTAATGAGTAGGGTTTGGTCTCCAGCCTTCTCCAGTACTGGATAAAGGGCTGACATCAAGAGCAAACAGAAGTCTTTTCCTAGTGCATATGCAAACTGGCCAATTCCTTCCAACTGAATGCATATTTGCCAGATGTTACTGTTCATGGAGCAAATAGTGGGACTTGGCTTTGAGAAGGCTAGAAAAGATGTAACTTGGCAGGTGTGTTCACCAGACGTGATGGCTTGGAGGCCTGGGTGCTCCATCATCAGCTCCTCTCCCATTTCCTCAGTTTCAAGACAGGTAACCAAATACCAATTTTCTTGACTTGTGTATTCTTCAAGTATAGATGTCACAATCTCTCTCAGTTCTTCTGGGTTTGTTTTAATATGTTTTTCGTGAAGATCCTCAACCTCCAGCCCAGCAGCCCCTGTAACCAGTTCATTAAGGATCATGGCAGCTTGCTTCCGGTAAACCACAGATTGATGGTAAAGTTCCATAAAGTGATCCACAAGCAAATAAAGATTCCCATAATAACCAAGTAGCTGACAAACCTGCCTCAAGAGCATGAAGATTCTCTCATCAGTGAAGAAGCGGAAATATCTCCTCTGGATGCGGTTCCAAGGCTGTGTGGCTGAGGTCTTTGGAGAAGCATTCAGATCATCAGAGTTCCAACGCCGTTCCTCAACAATCTTGATGTCAGCCACGTCTAGCTCTAGAACTTGGATGAGTGCTTTGGAAAGCCGCTGGAGATGGGCCACAGAGTTGAGGACAAAGTTTATTTTTGGGCCCAAGAGTTTCAGATAACCAAGTAACAAGGAAAGAGTAGAGAATTTGCCCTGGTCATCTTGGGAGTTCATTAGGCGAGGAAGAGATGTGGCAAGGGAATGCAGGCTTTCTGACAAGATGTCAGCGAGGGCTTTGTTGCCCACCACTACTTTTTGATCTGCAAAATGTCTCAGAACTTTATTGCACTGGGCTTGGATTTCAGGACTCTCATCATTTACTAGTCCCACTAAGGCCTTCAGAAGGGGACCAGCACATTCGACCAATGATTGACTGCACTTCAAAAGAAGGTCCTCCACAAGTTCTACCAGTTCCAGTCTCACCTTCCAGTGTGGGTGAACAGAAACACACTCAATTATCTTTTTAATAAGGATAGTCAACTTGTCGCCAGTCTTTTTTACCCAATCTGCTTCCCTGTAAACCATCAGCTCTGCTACTCTGTGCTCAACTGCAGGTTTTGCTTGGACCTTTGAGATTCTTTTGAGCTGTTCATCAGCCATAATGAAGCTCACTGTCTTGTAAAAGATCTTTAGGGAAGATACGACAATGCTGTGACCTTGTTTAAAGTCTCCTGTGATAAGCCTGGTCAGTGCAGTTGAGATTCCAGGTAAAAAAGAGGCAAACAAATCCCCCAGCTGCTTTTGTTCAAGTTCATCCAATGACCTTGGATGGTCCTGACAATCACACTGCAAGAGTAGAACCTGTAAACATTTTAAGGCAGCAATTTTAATTTGCTTTGATTTCTCCTGTTCTGCAAGGCCTAACAGTAAAGATACAGCAAATCCTAAACGTGGCAGAATGGAGGGCTCATAAAAAGTCAGAATGATGTCCCCATAAGCTGAGTGCATTAATGTGCTAAGTCCCTGGATCACAGCCAATTTCAACTCCTCGGACACAGCCGCAGGTTTTTGGGAGCTGGGTGAATACAGACAAGCAGAGAGTTCTGAAAAGAGTTCCTGGAGAAGCTCCTGTTCTTTCACACATGTTGAAGAAAGGACAAATGTGAGGCATTCCACCACACTTTGGATCAAACGCTCTCTTTTGGGACCTGGGGTCTTCAGGGTAAATCGCAGAGGGAAGAGGATGTACTGCTGAAGTTCCTGAAGGGCACTGTCACTCACAGCTTGTAGTCGTGTCTGCAGATGCTCCACATTCTCCACTGTCTGGGTCTTTGTGAGCTGAACACAGACTGGACGTAAGACACCAAAGGCCTCCTCAGGAGTATCAAAAACTGCCATTGTGCAGCAGCCTTCCCCTCATTGAGGAAACATCCTGCAGGCTGGAGGAAGGAAACTGTTCAGTAAAAATGTCAAGTTCAAAGCAAGTATGAAGTGAACTTGCATTCATTCATTCAACAGACATTTACCTGGGGTCTATGTGCCAGCCACTGCACAAGGCACTAGGGGTGCAATGAAACTGAGCCCCCTGTCTAGTGAGGGAAGTACATGTACAGTTACAATAAAGTCTCTTCAGGATTAGGACAGGCCTAAGCTTACAGTCCTGAGTGTGGAAGTCATATCCTGAGGAAGCCAGGATGGGTCTCACAAGAAAATTATGCTCGAGGCAAGACTTGAGGGAGGAAGGAATAGGAATCTGTGGACTATTTTCAGGAGTTCGGATTTTAACCTTCAGGAGTTTGGATTTAAACCTTCAGGTTTCATCTTTTTAAAACTGAGGTATACATATAGTAAAATGCACTATCTTAATGTACAGCTCAGTGAATTTTTGTGTTTGTATAGAACAATGTAACCACTTCCCGAAGTAAGATACAAAATAATTCCAACAACCTAGAAGGCTCCCTCATGTCCTTTTGCAATTGATTCCTATTTCACCTGCCTGGAGGTAACCACTCTTATGACTTCTATCACTACAGACATGTTTTGCCTGTTCCTGTCATTAAGAGGTTTAAAGCAAGGGGTGATATGGTCAACTTTATGCACTGAAAAGATCCCCCAGGAGCCTGTAATATGGGAGAAGGATCAGAACTGGGTGAGACTGACAGCAACATAAAGCGAAAGGGGGTACCCAGAGAGATGGGAAAACTGGGAGCACACACTATCACAGAACACACAGGAGAAGACAGAGTCCAGCAGGATGGAAAGATGGACAGCAGGCAGGCAAGCAGGCGAGCAGGCAAAGGAGAAAGGATTACAGGAAAGCAAAGAACAACTCAATATCCAAGAGTCTGTCTTTTTTTTTGTGAAGAGAAATTCAAAGTCATGGGCTGACAGTGAACAAGGAGAAGGATAAACAGAGGGCTTGAGGAGAGAAATAAAAGTCTCAAATACTCCCTTTGGGGAAGCAGAGCATGCTGGGAAGACTTACAAAAGTGTGGCCCAAGGGTACTGAGGACTGAGCTGAGTTGGAGACCATAAATGTGTATAACTGTAAAATGTCGGCATTGGATGGAGGCTTAGAGATCATCTAGTCTGGTGGTCTTGTGGTCTTTCT | TTAAAATTAAGTAAAATATAGAATTCAGTTCCTCAGGTGCACGAACCACATGTGTATAGTGGTAACTGTACTGGATAGAACGAATAAAGATTATTTCTATCATCAAAGAAACTTCTCTTAGTACCGTTCTAGACAATATGTGACTGAATAATTCACGTTATATCTGTTCTTCATTAGCATAGATACTGCTAACTCTATGCATCATCAGAAGCAGTTTGCTATACTGGAAAGAACAAAACTGTCATAAATCCTGATTTTATCATTTATTAATTGTGTGACCCTGGCTAAGTAGGATGTCACTGACCCTTAGTTTTTCTTATTTATAAAATAGAAATAATATTTACATTTATTCTGCAGGGTTTATACCCTGGCATAGAGCAGGAGCTCAATAAATGGTAGAGATTACTGAAAGTATAAAAGATAAACAGTGAAACCCCCCCATAACCTATGGGACTGGAGAGAAAATGATTAAAACGTCCTCCATAGCATCACCACAAACAATGCAAAAAACGAGGCTAAGCAAACTAGGAGACTGAGTCCTGTCCCCCACACATCAGCATTAAAAAGGGCTCTCAATGTACCTAATGCTGCCATCAGAGCATGCAGAACGCTGACAAAGGAAGCAGCTCTCTTATCGTAAAATTGGTCCAGGGTGGCCAAGACATCTTGAACCACATCTGCCACCAAAGGAAGCAGGTTAGCATCTGAGTTCCGCAGCATGACTTCCAGGACCTTTGGGGTATGAGGATGCAGAGCCAGATGACGCAGATTTAAAGAGATCCCATTCACTAAATAGTCTGAATTTTGATTGATCAGGTGCTGCAGGGAGTCGTAGCCACAAGCACGGCAAACGTCCATCATGGTGCTGGTAGCCACCTGACTAATGAGTAGGGTTTGGTCTCCAGCCTTCTCCAGTACTGGATAAAGGGCTGACATCAAGAGCAAACAGAAGTCTTTTCCTAGTGCATATGCAAACTGGCCAATTCCTTCCAACTGAATGCATATTTGCCAGATGTTACTGTTCATGGAGCAAATAGTGGGACTTGGCTTTGAGAAGGCTAGAAAAGATGTAACTTGGCAGGTGTGTTCACCAGACGTGATGGCTTGGAGGCCTGGGTGCTCCATCATCAGCTCCTCTCCCATTTCCTCAGTTTCAAGACAGGTAACCAAATACCAATTTTCTTGACTTGTGTATTCTTCAAGTATAGATGTCACAATCTCTCTCAGTTCTTCTGGGTTTGTTTTAATATGTTTTTCGTGAAGATCCTCAACCTCCAGCCCAGCAGCCCCTGTAACCAGTTCATTAAGGATCATGGCAGCTTGCTTCCGGTAAACCACAGATTGATGGTAAAGTTCCATAAAGTGATCCACAAGCAAATAAAGATTCCCATAATAACCAAGTAGCTGACAAACCTGCCTCAAGAGCATGAAGATTCTCTCATCAGTGAAGAAGCGGAAATATCTCCTCTGGATGCGGTTCCAAGGCTGTGTGGCTGAGGTCTTTGGAGAAGCATTCAGATCATCAGAGTTCCAACGCCGTTCCTCAACAATCTTGATGTCAGCCACGTCTAGCTCTAGAACTTGGATGAGTGCTTTGGAAAGCCGCTGGAGATGGGCCACAGAGTTGAGGACAAAGTTTATTTTTGGGCCCAAGAGTTTCAGATAACCAAGTAACAAGGAAAGAGTAGAGAATTTGCCCTGGTCATCTTGGGAGTTCATTAGGCGAGGAAGAGATGTGGCAAGGGAATGCAGGCTTTCTGACAAGATGTCAGCGAGGGCTTTGTTGCCCACCACTACTTTTTGATCTGCAAAATGTCTCAGAACTTTATTGCACTGGGCTTGGATTTCAGGACTCTCATCATTTACTAGTCCCACTAAGGCCTTCAGAAGGGGACCAGCACATTCGACCAATGATTGACTGCACTTCAAAAGAAGGTCCTCCACAAGTTCTACCAGTTCCAGTCTCACCTTCCAGTGTGGGTGAACAGAAACACACTCAATTATCTTTTTAATAAGGATAGTCAACTTGTCGCCAGTCTTTTTTACCCCATCTGCTTCCCTGTAAACCATCAGCTCTGCTACTCTGTGCTCAACTGCAGGTTTTGCTTGGACCTTTGAGATTCTTTTGAGCTGTTCATCAGCCATAATGAAGCTCACTGTCTTGTAAAAGATCTTTAGGGAAGATACGACAATGCTGTGACCTTGTTTAAAGTCTCCTGTGATAAGCCTGGTCAGTGCAGTTGAGATTCCAGGTAAAAAAGAGGCAAACAAATCCCCCAGCTGCTTTTGTTCAAGTTCATCCAATGACCTTGGATGGTCCTGACAATCACACTGCAAGAGTAGAACCTGTAAACATTTTAAGGCAGCAATTTTAATTTGCTTTGATTTCTCCTGTTCTGCAAGGCCTAACAGTAAAGATACAGCAAATCCTAAACGTGGCAGAATGGAGGGCTCATAAAAAGTCAGAATGATGTCCCCATAAGCTGAGTGCATTAATGTGCTAAGTCCCTGGATCACAGCCAATTTCAACTCCTCGGACACAGCCGCAGGTTTTTGGGAGCTGGGTGAATACAGACAAGCAGAGAGTTCTGAAAAGAGTTCCTGGAGAAGCTCCTGTTCTTTCACACATGTTGAAGAAAGGACAAATGTGAGGCATTCCACCACACTTTGGATCAAACGCTCTCTTTTGGGACCTGGGGTCTTCAGGGTAAATCGCAGAGGGAAGAGGATGTACTGCTGAAGTTCCTGAAGGGCACTGTCACTCACAGCTTGTAGTCGTGTCTGCAGATGCTCCACATTCTCCACTGTCTGGGTCTTTGTGAGCTGAACACAGACTGGACGTAAGACACCAAAGGCCTCCTCAGGAGTATCAAAAACTGCCATTGTGCAGCAGCCTTCCCCTCATTGAGGAAACATCCTGCAGGCTGGAGGAAGGAAACTGTTCAGTAAAAATGTCAAGTTCAAAGCAAGTATGAAGTGAACTTGCATTCATTCATTCAACAGACATTTACCTGGGGTCTATGTGCCAGCCACTGCACAAGGCACTAGGGGTGCAATGAAACTGAGCCCCCTGTCTAGTGAGGGAAGTACATGTACAGTTACAATAAAGTCTCTTCAGGATTAGGACAGGCCTAAGCTTACAGTCCTGAGTGTGGAAGTCATATCCTGAGGAAGCCAGGATGGGTCTCACAAGAAAATTATGCTCGAGGCAAGACTTGAGGGAGGAAGGAATAGGAATCTGTGGACTATTTTCAGGAGTTCGGATTTTAACCTTCAGGAGTTTGGATTTAAACCTTCAGGTTTCATCTTTTTAAAACTGAGGTATACATATAGTAAAATGCACTATCTTAATGTACAGCTCAGTGAATTTTTGTGTTTGTATAGAACAATGTAACCACTTCCCGAAGTAAGATACAAAATAATTCCAACAACCTAGAAGGCTCCCTCATGTCCTTTTGCAATTGATTCCTATTTCACCTGCCTGGAGGTAACCACTCTTATGACTTCTATCACTACAGACATGTTTTGCCTGTTCCTGTCATTAAGAGGTTTAAAGCAAGGGGTGATATGGTCAACTTTATGCACTGAAAAGATCCCCCAGGAGCCTGTAATATGGGAGAAGGATCAGAACTGGGTGAGACTGACAGCAACATAAAGCGAAAGGGGGTACCCAGAGAGATGGGAAAACTGGGAGCACACACTATCACAGAACACACAGGAGAAGACAGAGTCCAGCAGGATGGAAAGATGGACAGCAGGCAGGCAAGCAGGCGAGCAGGCAAAGGAGAAAGGATTACAGGAAAGCAAAGAACAACTCAATATCCAAGAGTCTGTCTTTTTTTTTGTGAAGAGAAATTCAAAGTCATGGGCTGACAGTGAACAAGGAGAAGGATAAACAGAGGGCTTGAGGAGAGAAATAAAAGTCTCAAATACTCCCTTTGGGGAAGCAGAGCATGCTGGGAAGACTTACAAAAGTGTGGCCCAAGGGTACTGAGGACTGAGCTGAGTTGGAGACCATAAATGTGTATAACTGTAAAATGTCGGCATTGGATGGAGGCTTAGAGATCATCTAGTCTGGTGGTCTTGTGGTCTTTCT |
Task1_train_27854 | This gene mutation involves MAFB (MAF bZIP transcription factor B) on Chromosome 20. Is it associated with any clinical condition, or is it benign? | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | GCGCAGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTC | GCGCAGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGAGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTC |
Task1_train_27855 | This variant affects the gene MAFB (MAF bZIP transcription factor B) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | CGCAGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCG | CGCAGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGACGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCG |
Task1_train_27856 | A genetic alteration is present in MAFB (MAF bZIP transcription factor B) on Chromosome 20. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | AGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCT | AGGCCCAGAGGGTTCAGAAGGGACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGCCGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCT |
Task1_train_27857 | A mutation found in MAFB (MAF bZIP transcription factor B) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | GACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGA | GACCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGAAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGA |
Task1_train_27858 | This mutation occurs in MAFB (MAF bZIP transcription factor B) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | CCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGATC | CCTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAATGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGATC |
Task1_train_27859 | The following genetic variant occurs in MAFB (MAF bZIP transcription factor B) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | CTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGATCG | CTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGCGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGATCG |
Task1_train_27860 | This sequence variant lies in MAFB (MAF bZIP transcription factor B) on Chromosome 20. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Multicentric carpo-tarsal osteolysis with or without nephropathy | CTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGATCG | CTCAGGGTGATTCTGGTTACAATAAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGGGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGATCG |
Task1_train_27861 | Gene MAFB (MAF bZIP transcription factor B), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCGAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGATCGCGAATTCGCTGGACCCGGAGACC | AAAAAGCAGAGGGGAGGATCTGTTTTCCTTTCCTTTCCTTTCTTATTAAGGGTATCAATTTGACCATAAGACAAGGCTGTAGTCCAGAACACTCCTCTGGGGTGCGGAGCTTGGCAGCTTCCCTGCCCTGCCCTGCCCTTGTACTGGGACCTCTCGGTTCTCTCTCTCAGCACCAACAAGGTTGAAAACTAAAGCGAGAGAGGAAAAAGAGGACCGAATGGGGATAAGGGAAGGAAAGAAAACATGCAACTTCCAAGTGTGCCCCAAGACAAAGTTGTTTTCTGATGCAAAATGCCCGGAACTTTTTCTTTTTTTTTTTCTTTTTAACTTACAAACAAAAATACCGTAATAATAAACCCAAACAAAGACCCTCAGCTTGCTGCCACGTTCTCTATGCGGTTTGGCGGGGCGGGTATTTACAAGCCTACAGCTGGGACTGAAACCCCGCACGCAGCCGCCGGAGTTTCCAAACTGCGATCCCTTCTCACCCAAAGAAACAAGGGGAGTATGATCCATGATCAACAACATGCTAAAGTTAAACAAGAAAATGGTACAAAATAGAAATTATTACCATACATGTCCAGCATGCAGGATTAATATTTTTAATGCAGATTTTTTGTATTTTTCTATATAATCGAGCAGGCAATAAAACTGATGAGATTTGGGCGCCGAGCGTCCTAACTGAGGCCTGTGTCTCAGGGCTGAGAGCCAGTGTTCTCCGAACTCTGACAGACAGGTCCGTCTGTCCTTCCTTCTTTCGCTCAGCCTCGCCTCTCGCCTGCCGGGACGCCAGAGTCCCTCTCCTTTCCTCGTTGCTCTCTTCCTGGCGCGGACTACTCTCCGGGCAGCAAAGCAGCTGTCCCGGCTTAACGCGCAAAGTTCAGAAAGCCAGGAGTCTCCAGATGGCCTTGGTGACTTCTCGGGACTATGCCTCGCCGCCCTTCAGCCTGGAGAGAAGTTACTCCGGGACCTCCCACCCTCTCGTCTCTCTCTCCGGCTCTGCTCGAGTCTAGGAGGCGGCGCTGGCGTGCGCTACTCTCGCCTTAGCCAAGGTCCCCTGCCCGCCCGCGCACCCGCCCGTCGCCCGCGGCCCGCGCGCCCTTCCTCCCTCTCGCTCAAGTCAAACAGGTCAAGGCTGGGGCCGCGGCAGGGACAGGGTCCGGGGTAGTCTGGGACTAGGGACGTGGGACAGGGAGTCCGGGCCGGGGCAAGGGCGGGGGCCAGGACCGGCCACGACTCACAGAAAGAACTCGGGAGAGGAGGGGCTGTCGCTGGTGGAGCCCGCCTCCCTGAAGCCGGAGTTGGCGAGTTTCTCGCACTTGACCTTGTAGGCGTCTCTCTCGCGGGCCAGCCGGGACACCTCCTGCTTAAGCTGCTCCACCTGCTGAATGAGCTGCGTCTTCTCATTCTCCAGGTGGTGCTTCTGCTGGACGCGTTTATACCTGCAAGACTGGGCGTAGCCCCGGTTCTTCAGGGTCCGCCGCTTCTGCTTCAGGCGGATCACCTCGTCCTTGGTGAAGCCCCGCAGGTGGCGGTTCAGCTCGCGCACGGACATGGACACGAGCTGGTCGTCGGAGAAGCGGTCCTCCACGCTGCCGTTGCCGCCCGCCGCCGTCGCCGAGGCCGTCGCGTGCGGCCCGGGCCCGGGGTGGCTAGTGGGCAGCTGTTGCGCCGGGCTAGCGGCGCTGGACGGCGGCGGCGACGCTTGGTGATGATGGTGATGGTGCGGGTGAGCGTGCGGGCCCAGCTCGTCGTGGGCCACGCCGGCGCCCGGGTACGCGTGGTGCGGGTGAGGGTGGTGGTGATGGTGGTGGTGGTGAGCGCCGCGAAAGCTGTCGAAGCTTTGCAGCGGCTGTGGCACTGGGTGCGAGCCGATGAGCGCTTCCACCGCGTCCTCGGGCGTCAGGTTGAGCGCCTCGGGGTTCATCTGCTGGTAGTTGCTCGCCATCCAGTACAGATCCTCGAGGTGTGTCTTCTGTTCGGTCGGGCTGAAGCTGGGCGACGAGGGCACGGAGCTACACGGAGTGCTGAGCGGTGTGGAGGACACCAAGCCGGCTGGCTGCAGGCGTGTGCAGGGCCTGCCCGGACGCTCCGCGCGCCCCAGTGGCTCCTTCTTCACGTCGAACTTGAGCAGGTCGAAGTCGTTGACATACTCCATGGCCAGCGGGCTGGTGGGCAGCTCTGGCCCCATGCTCAGCTCCGCGGCCATCGCTGAAGCGAGGCGCAGCCGCCGCTGCCGCCCGGGAAACTTTGCGGCCGGCCGGAGCGCGCCGAGCCAAGCGCGGGGGGGAAGAGCGGAGAAGAGCTGGGGAGGCGGGGAGCGAGGGCGCAGCGGGCCGGGGCCGCCGGCCAAGCCTTTGTCTGGGGACGCGGCGGCGCGCCGGAGAGTCCCGAGGCTGCCTGCACCGCCCCAGAGCTCTGGGCTGTGCCCGCGCAGGGACCGGGCCGGGTAGAGTCGGGCGGGGTGGAGAGGCAAGCGGAGCGCGCGGTGGGGCTGAGGGGAGGCGTGGGGCGAGTGCCCGTTGCTCGCTCTCTAGCTCTCTTGCTCTTACGCTCTCTCGCTCGCAGCCGCTCGCAGCTCGGCGGTGCAGCTGTGCTGGATCCGGCGGCGCCGCAGCCTTTTATCGCCTCCTGATGTCACTGGGGTGCGGGGGCCCGGGCGGCCCGGTGCGCGGGCCAATAGCTGCACGGCCTCCGCGGCCCAGCGGCGCAGGGCGGGGCGCGCCTGACAGCTCCCCCGCCCCCCGCGTCAGCTGACTGGCGGCCCGAGCGGCCCCGGAGCGGCGGAGGCCTGGCGGAGCGCTGGAGCGGAGTGGGACGGCCAGCCTGGGCCCACCCCCGTACCCTGCAGGTCCCGGCCCACGCACGCTCGCCTGGAGTGCGCGCCCCACCTCTAGGCCAAATCACCGCTTTCCCCTCCTCGCGCACTCTCCTCCCTCAGTTCCCTTTGCACCCCACCCCCATCCCGTGTCACCCCCAAGGAGGCTCAGAATGAGCGCCGGGACAACGCCTCCTGGGCCCTTTGTTCCCAAGCGGCCCCCGCCCAGTGGGCGACGCTCTGTGTGTCCTCGCGGCTTCTGGCCGTGTGTGTCGTGCGTTCCTGTTTCTGGAGATCTGCGCGTATTTGTATGTTGGGGAGGGCGGGCTCGAGGCTCCGAGAGTTGTGTTCAGACCCAACTCTTAACCTCAGGGGACCTTTCTCAGGCCAAGCGAGGGCCCCTCCTGGCGGGTGCAGTCGCAGAGCCCTGAGGTTCGACTCCACTGGCCCCGCCGCTCCCCGCGTTCACCCCACCGCACAATGTTCACAGTGAAGGCGACGGGAAAAGCAGCAGCCCAAAGGCTCTGAATTCCTCTTCCCCGCCACACGCACGGAATCCTGAGCCCCCGGAGCCTCGGGGCCGAGGCCGGCCCGGGACGGTGCTCCGAGTAGCTCTCCACTGCTGGGGAGCCGGCCCTGTTTTTGTTTGAACGTTTTGTAACGATTAAGCAGATCCCGGCGTCAGCCCGCCGCGGAGAGGCTCAAACAGGCATAAAGTGCGACCCCAAGTGGCCACTGTGCGCAAAGGCGCCGCGACCGCCCGGCCCACGGCCGGAAGGCTTGGACGGCGCCTCGTACCCAGCCAGGTCTCCCCTACCTGGCCCAACCCAAGCCAGCCCAGAACGCATACTATGTGTGCACCAGAGCCCAGGACAGGTTCCCCTCGAGCGATGTACAGGTCCTCGGGTCCCGTCTTCGTACTCAGCCGCGAGCCTCGAGCCGCGAGCTCCGCTCTGGTCGCCCCGTTGAAATTCCGTGCCCCAGCGTTCGGGGGTGCCCGTCGGCTGCTCCCTGGGCCGGAAGGTCCTGGGCGGAGGAAGGCCGGTAGCCAAAAGTGGAAGCGCCACAGTGAAGCGGCCCAGGGCCACCGGGTGAGAAACCTCCCCGGAGGGCAGACGGGGAGACCGAAGCACACCGCACTAGGCATCCAGACTGGGCTTGGGAGCCGCGCACCCTCCCTACCCAGATCCAGGATGGCTAGAATTAACGGGTTCTTTCTGAGACCTCGGCTCAGGCGCCGAAACCGGATAGATCGCGAATTCGCTGGACCCGGAGACC |
Task1_train_27862 | Chromosome 20 houses a mutation in gene PLCG1-AS1, TOP1 (PLCG1 antisense RNA 1| DNA topoisomerase I). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; DNA topoisomerase I, camptothecin-resistant | GTGTCTCAGGTAAATCTTATCCTCAATATTCCAAGTTAGTGAAATTTAGTATATTATTTACTTCAGGGGCATTTTGAAACTTAAAAGATCACTTTGGAGCTTTGTTCTTAGAATATTGATCCAAAGATAGATTTTATAAACATCCCCTTGTCAGAGCCTCTGCCAAGGACACCTGCTGCCAGCAAGGTCTGAATCTGTTCCCACCCACAAGGCAGCACAACTTAGTTAAACTGAATCAATAAGTATATAAAACGCAGAGTCAATAGAGGGTAAGGAGGCTCAAAATCTCCCCCACCATCCCTCACCTTTTTGGAGCAAGGATCATAGTATAGAGTGTATATACCTGTATACCTACAAAAAAATTAGTGACAGATCTGTCTGAGCTTAAAAACCCACGTTTTTAAGCTGTTTAACTGCTGTTTAATTAAATGGCTTGAGCTATTCTTTTATGAGGCTCTATCAGAGACTCTTCTCCATTTCCTGTTTTGATAGTACTCAGTAAAACAGTATGAATTTTTAAAGTACATTTAAAAACACCCAAATAACATTTACAAACATATATCCTTTAAGACACAAGAATCAGTTTTGAATCTAGTTGAAATCAATCCTTATAGGCAGATCTTTTTGGGGAATTTTATGATATTTAAGTTTGAGAAAACCACTAGAGGTTTTCCTTTATTTGAATTTATTTTTTAGTGATTTTTCAGACTTTCCTCTACCTTGACTTAGTCTCCCACAAGAGATAAAATGCATTAGTAGAGAACAGCAATCTGAATCTATTTTGAGTACTTTCTTGCTGTCTTCCAGAAAATCAAAGAGGAGAATGAAAAATTACTGAAAGAATATGGATTCTGTATTATGGATAACCACAAAGAGAGGATTGCTAACTTCAAGATAGAGCCTCCTGGACTTTTCCGTGGCCGCGGCAACCACCCCAAGATGGGCATGCTGAAGAGACGAATCATGCCCGAGGATATAATCATCAACTGTAGCAAGTGAGCTCGCACTTCATCCTATGGGCCAAAAAGGGGGTGGAGGGCGTCCTTTATTGTACTTGGGAATATTTCCCAGGTTACACAGGACTGTTTGGGAAGGGAGATACTTAAGAGCAGGACAGTATTTCATGCGTAGGTCTCCAGATGTTTTTGAGGTACAGTTGTCTCCCCTCATCCACAGGGGATATGTTCCAAGACCCCCAGTGGATGCCTGCAACTTCGACCCAATTGCTGTCACTTGGAACACATTTCTGTTGATGTCTTCCACCCCCAAATTTAATGTCTTTTCCATGTTTATTAAGTACTTATCACATAGAGTGGCTATAACTTTTGCAGTCTGAGGCACAACAGCAAAACTAGCACGACTTTCTTTTTCCTTCTTCACAATTTCACAGATGGAAGGTTAATTCTTACCTTAGATCTTAGCAACTTCACCATACAGTTTTTTTTATTAAGTCGATAATTTCCACCTTTTCATTTAAAGCACTCTGTGCAGCTTCTGTATGGCATATCCAAATTGCCAACATCACCACTTTCACACTTTGGGGCCTTTATTAAGTAAAAGAAGGATTACTTGAACACAAGCAATGTAAAACCATTAAAGTCAACCTGATAAATAAGGCAGCTACTAGGTTACCCATGGGCAAGTGACATATACAGCATGGTATGTTGTATATATGGTTCACGCATCCCAGGTGGGACTACAAGAGATTTCATCATGCTCCTCAGAATGATGTGCAATTTAAAACTTACAAAATGTTTATTTCTGGAATTTTGTATTGAATATTTTCGGATGACAGTTGGCTGAGGGTAAGTAAAACCATGCATAAGGTGGGACTACTGTATTGACTGTTAAGAAGGAAACTTGGAAAATTATGCTCAGCAGATAGGTCCACTTGGGGTCATGAAAGGTGAAATTATTCCTCACATCTTATTTCACTATCCTCGTGCTCTGTTATTTCCAGAGATGCCAAGGTTCCTTCTCCTCCTCCAGGACATAAGTGGAAAGAAGTCCGGCATGATAACAAGGTTACTTGGCTGGTTTCCTGGACAGAGAACATCCAAGGTTCCATTAAATACATCATGCTTAACCCTAGTTCACGAATCAAGGTAAGGGGATAGTTGAGAGCTGCACTGGTTCATGGTGCTGATAACCTTTTTTTGTTGAAATGTAACGTTCTCGTCCTCTAGAATCACTTTGACAAATTAAAAATCCTCCCCATTGAAAGAAGGCAAGTACTTTCATAGTTAGCATTATGGTGATCTTCCTACAGTGCCTCCATTTTTTTGGTCACATTGTAATCTTATTTATTAATTCACAAATATTTACTGAAATCCCAAATGTGCCCCACACAGTATACATTTGATGCTAGGAATTATGTTGGTAAACAAGATAGACGTAGGCCCTGCCTTCATATTGCTTAACGTCCAGTGGTCAGAATGTGTTGAAGTATGGTGATTGTATATTGGCCTCTGCAGATGTCTTCTACTTCCTCACCTCTCTTGGTTATGAGAAGGGAATGTAGTTTCTGTATATCCTGAAACAAGTTGTAAAATCTAATGTCTTACATACTTCTGGCTTCCTGCAGTCTCATCTGGGTAGGTTCACCAGGGCCAAATGAAATGTGTGTGAAAGCACATCATAAAACTGTGTTACATACCTATGCACTGTTATTTATTGATAGTGTTATTGCAAGGAGATAACTGCCTTGGGGGAAATCAGTTTTTGTTTGCCAGATAGCTATGTATATCTAGCTTTGGAGAGTCCCACGAACTTCTTCCCTCCAACATACTATGAAATATAAACCTAACAGAGACAAAAACACAGTCAAGGAATTAGTTCTATGTAGACTGTTAACTGTTTTATGTGCAGGAGACCTGGGACTAAAGACCTTCTTGATCCTCGTTCATAGGTTATAACATCTGTTAAAATGTGAAAGCCACAGCTGAAAAGGCTATGTGAATAGGCAAGACTAAACTGTACATTTTCTGGCTTGTAGCCCTGTGTTCTTCTGTATATCACTACTTTTCTAATGAAAAATACCTGTTTATATATTTTCTCCAATTATAAAATATACTTTTCTGGCTGGGTGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGACAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAATCCCATCTACTTGGGAGGCGGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAAGAGACTTAGACTCTGTCTCAAATAAATAACTAAATACATAAATAAAAATAAAATGTAGTTTTTGTAGTTTAGATAAGTACAAAATCAGAAAGCGAACACTTATGTTGAGCAGACTAGTCATTTAAAGAAACATGTATTCCTCTTCTGAAGTATCGCAAAGCTGTATATATGGCTACAAAAGCAGAAAAATAATAGTTTTAGCCCTTAAGGAACTTATAGGCTGGTGGGCAAATCAGGTAAGAATTCAGTTGTATTAGAAGAAAGATAAAAGTAAAATGCATTAGATAAACAGAGGAGTTATTTGCAGCACCTTAGAGATCAACAATAACTTTATGAAGAAAAGTAGGTTATGGTTGGGTCTTAAAAGTAGTATTTCAAACAAGAGAGAACTGTGTCGTGGACAAAGGGGAGGGTGGTAAGCAGAGTATGTTGAGGATAGGGGTTGAGAAAAGGTGTGATAAAAAGAATTATCAAGTGGTGACAGTTGCACAACATTGTGGATATACTACTAAATGTCACTAGTGGTAAATGGTATCAATGCATATTTTACCACAACTTAAAAATGATCAAAATAACAGAGTTACTATTAAAAACATTTGCACATAAGTTAACATTTGGATCTTCTAAGCATACCGCACATACATATACTAATGCCACCATTTATAGATGAGTAAATTTAGTCTCTGGGAGGCCCAAAAATTTGCCCAAGATTCAGTGGCTAGTAACTCTAACTTAGATCTTCTTAGAATGTAAC | GTGTCTCAGGTAAATCTTATCCTCAATATTCCAAGTTAGTGAAATTTAGTATATTATTTACTTCAGGGGCATTTTGAAACTTAAAAGATCACTTTGGAGCTTTGTTCTTAGAATATTGATCCAAAGATAGATTTTATAAACATCCCCTTGTCAGAGCCTCTGCCAAGGACACCTGCTGCCAGCAAGGTCTGAATCTGTTCCCACCCACAAGGCAGCACAACTTAGTTAAACTGAATCAATAAGTATATAAAACGCAGAGTCAATAGAGGGTAAGGAGGCTCAAAATCTCCCCCACCATCCCTCACCTTTTTGGAGCAAGGATCATAGTATAGAGTGTATATACCTGTATACCTACAAAAAAATTAGTGACAGATCTGTCTGAGCTTAAAAACCCACGTTTTTAAGCTGTTTAACTGCTGTTTAATTAAATGGCTTGAGCTATTCTTTTATGAGGCTCTATCAGAGACTCTTCTCCATTTCCTGTTTTGATAGTACTCAGTAAAACAGTATGAATTTTTAAAGTACATTTAAAAACACCCAAATAACATTTACAAACATATATCCTTTAAGACACAAGAATCAGTTTTGAATCTAGTTGAAATCAATCCTTATAGGCAGATCTTTTTGGGGAATTTTATGATATTTAAGTTTGAGAAAACCACTAGAGGTTTTCCTTTATTTGAATTTATTTTTTAGTGATTTTTCAGACTTTCCTCTACCTTGACTTAGTCTCCCACAAGAGATAAAATGCATTAGTAGAGAACAGCAATCTGAATCTATTTTGAGTACTTTCTTGCTGTCTTCCAGAAAATCAAAGAGGAGAATGAAAAATTACTGAAAGAATATGGATTCTGTATTATGGATAACCACAAAGAGAGGATTGCTAACTTCAAGATAGAGCCTCCTGGACTTTTCCGTGGCCGCGGCAACCACCCCAAGATGGGCATGCTGAAGAGACGAATCATGCCCGAGGATATAATCATCAACTGTAGCAAGTGAGCTCGCACTTCATCCTATGGGCCAAAAAGGGGGTGGAGGGCGTCCTTTATTGTACTTGGGAATATTTCCCAGGTTACACAGGACTGTTTGGGAAGGGAGATACTTAAGAGCAGGACAGTATTTCATGCGTAGGTCTCCAGATGTTTTTGAGGTACAGTTGTCTCCCCTCATCCACAGGGGATATGTTCCAAGACCCCCAGTGGATGCCTGCAACTTCGACCCAATTGCTGTCACTTGGAACACATTTCTGTTGATGTCTTCCACCCCCAAATTTAATGTCTTTTCCATGTTTATTAAGTACTTATCACATAGAGTGGCTATAACTTTTGCAGTCTGAGGCACAACAGCAAAACTAGCACGACTTTCTTTTTCCTTCTTCACAATTTCACAGATGGAAGGTTAATTCTTACCTTAGATCTTAGCAACTTCACCATACAGTTTTTTTTATTAAGTCGATAATTTCCACCTTTTCATTTAAAGCACTCTGTGCAGCTTCTGTATGGCATATCCAAATTGCCAACATCACCACTTTCACACTTTGGGGCCTTTATTAAGTAAAAGAAGGATTACTTGAACACAAGCAATGTAAAACCATTAAAGTCAACCTGATAAATAAGGCAGCTACTAGGTTACCCATGGGCAAGTGACATATACAGCATGGTATGTTGTATATATGGTTCACGCATCCCAGGTGGGACTACAAGAGATTTCATCATGCTCCTCAGAATGATGTGCAATTTAAAACTTACAAAATGTTTATTTCTGGAATTTTGTATTGAATATTTTCGGATGACAGTTGGCTGAGGGTAAGTAAAACCATGCATAAGGTGGGACTACTGTATTGACTGTTAAGAAGGAAACTTGGAAAATTATGCTCAGCAGATAGGTCCACTTGGGGTCATGAAAGGTGAAATTATTCCTCACATCTTATTTCACTATCCTCGTGCTCTGTTATTTCCAGAGATGCCAAGGTTCCTTCTCCTCCTCCAGGACATAAGTGGAAAGAAGTCCGGCATGATAACAAGGTTACTTGGCTGGTTTCCTGGACAAAGAACATCCAAGGTTCCATTAAATACATCATGCTTAACCCTAGTTCACGAATCAAGGTAAGGGGATAGTTGAGAGCTGCACTGGTTCATGGTGCTGATAACCTTTTTTTGTTGAAATGTAACGTTCTCGTCCTCTAGAATCACTTTGACAAATTAAAAATCCTCCCCATTGAAAGAAGGCAAGTACTTTCATAGTTAGCATTATGGTGATCTTCCTACAGTGCCTCCATTTTTTTGGTCACATTGTAATCTTATTTATTAATTCACAAATATTTACTGAAATCCCAAATGTGCCCCACACAGTATACATTTGATGCTAGGAATTATGTTGGTAAACAAGATAGACGTAGGCCCTGCCTTCATATTGCTTAACGTCCAGTGGTCAGAATGTGTTGAAGTATGGTGATTGTATATTGGCCTCTGCAGATGTCTTCTACTTCCTCACCTCTCTTGGTTATGAGAAGGGAATGTAGTTTCTGTATATCCTGAAACAAGTTGTAAAATCTAATGTCTTACATACTTCTGGCTTCCTGCAGTCTCATCTGGGTAGGTTCACCAGGGCCAAATGAAATGTGTGTGAAAGCACATCATAAAACTGTGTTACATACCTATGCACTGTTATTTATTGATAGTGTTATTGCAAGGAGATAACTGCCTTGGGGGAAATCAGTTTTTGTTTGCCAGATAGCTATGTATATCTAGCTTTGGAGAGTCCCACGAACTTCTTCCCTCCAACATACTATGAAATATAAACCTAACAGAGACAAAAACACAGTCAAGGAATTAGTTCTATGTAGACTGTTAACTGTTTTATGTGCAGGAGACCTGGGACTAAAGACCTTCTTGATCCTCGTTCATAGGTTATAACATCTGTTAAAATGTGAAAGCCACAGCTGAAAAGGCTATGTGAATAGGCAAGACTAAACTGTACATTTTCTGGCTTGTAGCCCTGTGTTCTTCTGTATATCACTACTTTTCTAATGAAAAATACCTGTTTATATATTTTCTCCAATTATAAAATATACTTTTCTGGCTGGGTGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGACAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAATCCCATCTACTTGGGAGGCGGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAAGAGACTTAGACTCTGTCTCAAATAAATAACTAAATACATAAATAAAAATAAAATGTAGTTTTTGTAGTTTAGATAAGTACAAAATCAGAAAGCGAACACTTATGTTGAGCAGACTAGTCATTTAAAGAAACATGTATTCCTCTTCTGAAGTATCGCAAAGCTGTATATATGGCTACAAAAGCAGAAAAATAATAGTTTTAGCCCTTAAGGAACTTATAGGCTGGTGGGCAAATCAGGTAAGAATTCAGTTGTATTAGAAGAAAGATAAAAGTAAAATGCATTAGATAAACAGAGGAGTTATTTGCAGCACCTTAGAGATCAACAATAACTTTATGAAGAAAAGTAGGTTATGGTTGGGTCTTAAAAGTAGTATTTCAAACAAGAGAGAACTGTGTCGTGGACAAAGGGGAGGGTGGTAAGCAGAGTATGTTGAGGATAGGGGTTGAGAAAAGGTGTGATAAAAAGAATTATCAAGTGGTGACAGTTGCACAACATTGTGGATATACTACTAAATGTCACTAGTGGTAAATGGTATCAATGCATATTTTACCACAACTTAAAAATGATCAAAATAACAGAGTTACTATTAAAAACATTTGCACATAAGTTAACATTTGGATCTTCTAAGCATACCGCACATACATATACTAATGCCACCATTTATAGATGAGTAAATTTAGTCTCTGGGAGGCCCAAAAATTTGCCCAAGATTCAGTGGCTAGTAACTCTAACTTAGATCTTCTTAGAATGTAAC |
Task1_train_27863 | A mutation in IFT52 (intraflagellar transport 52), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Short-rib thoracic dysplasia 16 with or without polydactyly | AAGGAAGGAAAAGGAAGATGAATTTAGGGAGAGATTCAGTCTGTTGTTCAGGGTCCAGGATCATGCAGTTATAACCCATTTGTTTTGTTTTTCTGTTGTTGTTCCAAAAAATGTTTACTAAGGATCTGTTACACACCTAGTAACAGGTCCTAGGACTAACGCTAGGGATCAAAGTCAAATAGCACATGATCTCTCCACTCAAGGAACCGATAGTCTAGGGGAAATGACACAAATGGACCATCTACCAATAATGATCAATGTTCTAAGTTCCACATTTCTACAGAAACACAGAAAAGAGGCATTGGATTATTGGGTCCAGAGGAAATGGACTTTGAGCTGATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCATTGGCGCATTCTCGGCTCATTGCAACCTCCGCCTCCCAGGTTCAACTGATTCTCCTGCCTCAGCCTCCCGAGTAGCGGGGATTACAGGCATCTGCCCCCACACCTGGCTATTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACTGCACCCCGCCTTAATTTTGATTTTGAAATAATTCATTTTTTATTTTGTTTTGTTTTTTTGTTGTGTTTCGTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCACCTGGGTTCAAGCAATTCCCCTCCCTCAACCTTCCAAGTAGCTGGGGCTACGGGTGCATACCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCTCACCTCAAGTGATCCGCCTACCTTGGCCTCTGAAGATTCATTTGTTTTATACAGTGTGGGGAAGGCAGGGGGAGAGGAAAATTCAGGGAGCATACAAGAGCGAGAGGGCCGTGCTGTGGCAAATCTAGTCTGGGCAGTAGTTTCCAAAGTAGGATGCATGTGATGAATCAGTGGGGTGCCAAAAGGAAATTATGTTTATTATTCATATTTTCATTACCCTTAAAACATTTCCTTTTTGGGAGTTGTTTTGAATTATAAAGTACATATTTTATATAGAGATACATACATATTGAATGTATTTATATACATGTTCAGATTTTTTTCTGCTGGAGTGCTTGATGAAGAAAGTTGAGAAACTATTTGTCTGGACCACCCACCCCAGATTTTCTCAGGCTAGACCAGCAAGATCAACCCTAGATTTTTCTCCCTTCCCCAGCTTTGTGAAAATGAGAGAGCTTCCAGGAGATAAGCAGAAAACATGCGTTTCTCTCTATGGTTTGGTTGGTCAATGACCTTGAACAGAATTCCTCCCAGGTGTGGTATGAAATGACTTCATCCTGATATCCTCTGTGGGCAGTCAAGAGAAGGCATTGTCTAAATCAGTGGTTCTTAACTAGGGGTGATTCTATTTCTTCTTCTCCTGAGGGAACATGTGGCAATCTCAAGAGACATTTTTGGTTGCCAGGGGAAGGTAGGTACAACTGGCATCTAGTAGGTGGAGACCAGGGGTGCTGCTGAATGGAGAACTGAGTGCTTCCTTTAGTTAAGTTTTTCACTTTTGACTTGCTCTCTAGATAGTCAGCTTTGAAATTGTCAATTTACTTTGAGTATTTTGGAGCTTTATGCTCAAAGACAAGCTTGGAGATCCTACATAGAGAGTACTTTTTATCTTATATACATTTATATGTAAATGCCTTATAGATTTGAAATATGTATTTTTCATCTAGTTAAGGTCTTATTCATGGTATTTCGGGCAAAAGTCTTTCAAGTATATTCATAGATTGCTTTTTTCCTTTGTGTAGTTTGAAATCCTGAAGAAATATCTTGACACTGGTGGAGATGTCTTTGTGATGCTAGGAGAAGGTGGAGAATCCAGATTTGACACCAATATTAACTTTTTACTAGAAGAATATGGAATCATGGTTAATAATGGTAATTAGTATTATTATTTTCAGTAGAGGCAGTACTTTTCTATCTATTATTTGATATCATAGCCCTCTAGGTCCAGTGGCATAATGGAAAAAGCCCTGGGCTGTGTGTGCGTGTTTTAATGTTCCATTCTCATCAGCAGTCTGAGCCTCCTAGGCTTGGGCTGCTTCCATTTATAAAGCGAGATGGATTGGAACCAAGTTCCAGGGTGCCCTTCAGGTCAAAATTGGTATGAGTCTATAATATCGAATTTATTTCTAACCTAAAATATACCTCCTTCTCTTTTTCCCTCATAGATGCTGTGGTTAGAAATGTATATCACAAATATTTCCATCCTAAAGAAGCTCTAGTTTCCAGTGGAGTCTTGAACAGGTAAGCATGTTGAAAGCAGAAATATCTTGGCAAGGCATCGTCGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGATGGATCATTTTGAGGTCAGGAGTTCCAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCCCTGTCTAAAAATACAAAAAAAATTAGCCAGGCATTGTAGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAAGCAGAGGTTGCATTGAGCTGAGATTGCACCATTGTACTCTGGCCTGGCTGACAGAGCGAGACTTCATCTCAAAAAAAAAATAAAGCAGAAATATCCTTACACATAACTCTCATTTCTTCTACATAAATCTTCCCTCGTCTCTTCTCATACATTCTTTTCACTGCCCTTTCTTCTTTCTTGCCTTTTTGTTTTGTGTTATTATAATTTATTTTACTATATTACTACTACTCATTCATCAAATTATTTTTCTTCATCTTTTGAAACTTACTTCACATTCAATTTATTTTTTGTTTATATATATATGTATTTTTTGAGACAGAGTCTTGCTCTGTTGCTCAGGCTGGAATGCAGTGGTGGGAACACAGTTCACTGCAGCCTTGACCTCCCAGGCTTAAGCAATCCTCCCACCTTAGCCTCATACTTGCTGTACTAATGAATGCAGTGTGAAATTCTCAAATTTTTTTTGTTTACTAGATTTTAATTTTTCTTCTTCAAGGGAAATTAGCCGAGCTGCAGGAAAGGCTGTGCCTGGGATCATTGATGAGGAAAGCAGTGGAAACAATGCCCAGTGAGTGTGTTTTCTGATGCCACATGAGGAAGATGTATCATTTTGGAGTCTTCTTTTTCAAAATGAAAAGAGCTTTTGTTTCTGGTTACAAAAATAATCAGAATTTGAACAGTTCAAGAGGAAAAAAGTAGAAGCTCTGCACTGTAAGTCCATGCTCCTCCCCCTGAAGGTAGTCTTAATATAGTATTTAGGCCCAGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTTGGGAGGCCGAGGTGGGTGGCCCACCTGAGGTCAGGAGTTAGAGACAAGTGTAACCAACATGGCAAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAACTGTTTGAACCCCGGAGGCGGAAGTTGCAGTGAGCCAAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAATATATAGTATGGTATTTAGATTTCTAGGTTTTTTTTTTTCCATGTATAAAGTTATAGGTGAGTACCTCTTCATTTTTAATGACTGGATTAAATTGGATATATCCCAGTTTATCTAACCAACTCCCTATTATTGGACATTTAAGTAGTTTATAATGTTTTTCTTTAATAATACCACCTAATGTTTGTCAAGCATCGACTGTGTGACAGGCATGTATTACCTCATTTAATCCTTACAACTCTGGAAAGTTAGAGATGAGATACAGAGATGTAATTGCCCAAATGCACATGACTACTCTGTGTCAGAACTTAGATGCAAACATAGGCAGTCTATTCTAGAGCC | AAGGAAGGAAAAGGAAGATGAATTTAGGGAGAGATTCAGTCTGTTGTTCAGGGTCCAGGATCATGCAGTTATAACCCATTTGTTTTGTTTTTCTGTTGTTGTTCCAAAAAATGTTTACTAAGGATCTGTTACACACCTAGTAACAGGTCCTAGGACTAACGCTAGGGATCAAAGTCAAATAGCACATGATCTCTCCACTCAAGGAACCGATAGTCTAGGGGAAATGACACAAATGGACCATCTACCAATAATGATCAATGTTCTAAGTTCCACATTTCTACAGAAACACAGAAAAGAGGCATTGGATTATTGGGTCCAGAGGAAATGGACTTTGAGCTGATTTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCATTGGCGCATTCTCGGCTCATTGCAACCTCCGCCTCCCAGGTTCAACTGATTCTCCTGCCTCAGCCTCCCGAGTAGCGGGGATTACAGGCATCTGCCCCCACACCTGGCTATTTGTATTTTTAGTAGACACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACTGCACCCCGCCTTAATTTTGATTTTGAAATAATTCATTTTTTATTTTGTTTTGTTTTTTTGTTGTGTTTCGTTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCACCACCTGGGTTCAAGCAATTCCCCTCCCTCAACCTTCCAAGTAGCTGGGGCTACGGGTGCATACCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACGGGGGTTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCTCACCTCAAGTGATCCGCCTACCTTGGCCTCTGAAGATTCATTTGTTTTATACAGTGTGGGGAAGGCAGGGGGAGAGGAAAATTCAGGGAGCATACAAGAGCGAGAGGGCCGTGCTGTGGCAAATCTAGTCTGGGCAGTAGTTTCCAAAGTAGGATGCATGTGATGAATCAGTGGGGTGCCAAAAGGAAATTATGTTTATTATTCATATTTTCATTACCCTTAAAACATTTCCTTTTTGGGAGTTGTTTTGAATTATAAAGTACATATTTTATATAGAGATACATACATATTGAATGTATTTATATACATGTTCAGATTTTTTTCTGCTGGAGTGCTTGATGAAGAAAGTTGAGAAACTATTTGTCTGGACCACCCACCCCAGATTTTCTCAGGCTAGACCAGCAAGATCAACCCTAGATTTTTCTCCCTTCCCCAGCTTTGTGAAAATGAGAGAGCTTCCAGGAGATAAGCAGAAAACATGCGTTTCTCTCTATGGTTTGGTTGGTCAATGACCTTGAACAGAATTCCTCCCAGGTGTGGTATGAAATGACTTCATCCTGATATCCTCTGTGGGCAGTCAAGAGAAGGCATTGTCTAAATCAGTGGTTCTTAACTAGGGGTGATTCTATTTCTTCTTCTCCTGAGGGAACATGTGGCAATCTCAAGAGACATTTTTGGTTGCCAGGGGAAGGTAGGTACAACTGGCATCTAGTAGGTGGAGACCAGGGGTGCTGCTGAATGGAGAACTGAGTGCTTCCTTTAGTTAAGTTTTTCACTTTTGACTTGCTCTCTAGATAGTCAGCTTTGAAATTGTCAATTTACTTTGAGTATTTTGGAGCTTTATGCTCAAAGACAAGCTTGGAGATCCTACATAGAGAGTACTTTTTATCTTATATACATTTATATGTAAATGCCTTATAGATTTGAAATATGTATTTTTCATCTAGTTAAGGTCTTATTCATGGTATTTCGGGCAAAAGTCTTTCAAGTATATTCATAGATTGCTTTTTTCCTTTGTGTAGTTTGAAATCCTGAAGAAATATCTTGACACTGGTGGAGATGTCTTTGTGATGCTAGGAGAAGGTGGAGAATCCAGATTTGACACCAGTATTAACTTTTTACTAGAAGAATATGGAATCATGGTTAATAATGGTAATTAGTATTATTATTTTCAGTAGAGGCAGTACTTTTCTATCTATTATTTGATATCATAGCCCTCTAGGTCCAGTGGCATAATGGAAAAAGCCCTGGGCTGTGTGTGCGTGTTTTAATGTTCCATTCTCATCAGCAGTCTGAGCCTCCTAGGCTTGGGCTGCTTCCATTTATAAAGCGAGATGGATTGGAACCAAGTTCCAGGGTGCCCTTCAGGTCAAAATTGGTATGAGTCTATAATATCGAATTTATTTCTAACCTAAAATATACCTCCTTCTCTTTTTCCCTCATAGATGCTGTGGTTAGAAATGTATATCACAAATATTTCCATCCTAAAGAAGCTCTAGTTTCCAGTGGAGTCTTGAACAGGTAAGCATGTTGAAAGCAGAAATATCTTGGCAAGGCATCGTCGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGATGGATCATTTTGAGGTCAGGAGTTCCAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCCCTGTCTAAAAATACAAAAAAAATTAGCCAGGCATTGTAGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAAGCAGAGGTTGCATTGAGCTGAGATTGCACCATTGTACTCTGGCCTGGCTGACAGAGCGAGACTTCATCTCAAAAAAAAAATAAAGCAGAAATATCCTTACACATAACTCTCATTTCTTCTACATAAATCTTCCCTCGTCTCTTCTCATACATTCTTTTCACTGCCCTTTCTTCTTTCTTGCCTTTTTGTTTTGTGTTATTATAATTTATTTTACTATATTACTACTACTCATTCATCAAATTATTTTTCTTCATCTTTTGAAACTTACTTCACATTCAATTTATTTTTTGTTTATATATATATGTATTTTTTGAGACAGAGTCTTGCTCTGTTGCTCAGGCTGGAATGCAGTGGTGGGAACACAGTTCACTGCAGCCTTGACCTCCCAGGCTTAAGCAATCCTCCCACCTTAGCCTCATACTTGCTGTACTAATGAATGCAGTGTGAAATTCTCAAATTTTTTTTGTTTACTAGATTTTAATTTTTCTTCTTCAAGGGAAATTAGCCGAGCTGCAGGAAAGGCTGTGCCTGGGATCATTGATGAGGAAAGCAGTGGAAACAATGCCCAGTGAGTGTGTTTTCTGATGCCACATGAGGAAGATGTATCATTTTGGAGTCTTCTTTTTCAAAATGAAAAGAGCTTTTGTTTCTGGTTACAAAAATAATCAGAATTTGAACAGTTCAAGAGGAAAAAAGTAGAAGCTCTGCACTGTAAGTCCATGCTCCTCCCCCTGAAGGTAGTCTTAATATAGTATTTAGGCCCAGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTTGGGAGGCCGAGGTGGGTGGCCCACCTGAGGTCAGGAGTTAGAGACAAGTGTAACCAACATGGCAAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAACTGTTTGAACCCCGGAGGCGGAAGTTGCAGTGAGCCAAGATTACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAATATATAGTATGGTATTTAGATTTCTAGGTTTTTTTTTTTCCATGTATAAAGTTATAGGTGAGTACCTCTTCATTTTTAATGACTGGATTAAATTGGATATATCCCAGTTTATCTAACCAACTCCCTATTATTGGACATTTAAGTAGTTTATAATGTTTTTCTTTAATAATACCACCTAATGTTTGTCAAGCATCGACTGTGTGACAGGCATGTATTACCTCATTTAATCCTTACAACTCTGGAAAGTTAGAGATGAGATACAGAGATGTAATTGCCCAAATGCACATGACTACTCTGTGTCAGAACTTAGATGCAAACATAGGCAGTCTATTCTAGAGCC |
Task1_train_27864 | This alteration occurs within gene IFT52 (intraflagellar transport 52) located on Chromosome 20. Is it associated with a disease or is it a benign variant? | Pathogenic; Short-rib thoracic dysplasia 16 with or without polydactyly | GTACAAAAAGTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGGGAATTGCCTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGATAAGAGCAAAACTCCATCTCGAAAAATAATAATAATAATAATAATAGCAGATAGTTTTTATCTTGCTACTCAAGTGTCCGTTCTCCCTTATGCCTTGAGAATCATCTTCCATTGATTGCATTTTGGGAAAATGTGGGGGATAGATGTGCATTGACCTCCATATGACTATTTCTCCCACCTACTTTTTCTTCCTCCATGGACAACTGCTTGTTTTCTTCTGCTTCTGGCCCAGAGATCATGGGCTGTAATCCACCTTGCTGGGATACTGCTGGAGTAAGGGTAGAAGGTGGAGTTTGGAGAATGTGGGCCAAGTACCACTTCTCTTTCATAGTATGACAACAAAAGTCATAGGGTAGATGAGATTTTACTGAAGGAATGGGGAAGATTAACACCAGAGGGAGGCCAGGCCCGGTGGTTTATGCTTGTAATTCCAGCACTTTCGGAGGTCAAGGTGGGCGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTTTCTACAAAAAATATAAAAATTAGTAGGTGTGGTGGCATGCACCTGTGGTCCCAGCTACTCAGGGCACTAAGGCAAGAGAATCGCTTCAGCCCAGGAGATTGAGGCTGCAGTGAGCCATGTTCATACCACTGCACTCCAGCCTGGGCAACAAAGTGAGATCCTGTCTTAAAAAACAAAACAAAACAAACAAAAACACTAGAGGGAAATAATTTTAAACTTAAGCCAAAAAGAATTTTTGTTGTCTAAAGAAAAAGGGAAATTAAAATCTCTATGAGGAACCCCTCATGGGTGCTTCCCCTATACCCCCTCCCCCAGTTTCTAACCTTACGCCCTGGTGTTGAGATCTGTGTTTCTCTCCATTCTGAGAGCACTTCCTTCAAGCTTTGCAGAGCTCCATCTTTGAGTAAAACCCTAACCCCTCCTACATGGGTTGGCTTCACCCCAGAATCTGCACCCCACCTTTGCTCCTCTATCCCACACCCTCTCCAGGAGTACATTGCCCCAGGTCAGACCAATTCACTCTAGATAATCTAAGACAAGTCTTTGTTAGGACAGTGGAGAGTAGAGGAGGGACTCCAAAGCAGATCTGTGTAGAAGTGTCCATTATAGCGTATATTTATGCCTCTGTTCATGTGACATTTAACTGGTAACATACCCATCCAGTGATATACATTAATTCTTAGAGATAGCACTAGCCAAACCTAAGGAAGAAGAACGTATTTACCAGTAAGATATTATTATGCAGAGCAGCTTGAGTTCAGTTCTTGGATGAGGCCCCATCCTCTTCCTCCTCCCTCCATCAGGGGCTTCTTTAGTTCTCCCAGTTACAGTCACTTACACTTTCCTGTTAATTTACTTTCATGTTTTTTAAAATGCTTTATTAAATGTGTAGCTAGAGTTGTCCCAGTTTTTAAGTTAACAAACCAAAGCTTAGAAAAAATTTTTTGTTTGATAATGAATCAAAGAGTGTTACTCAGCTGAGCACCGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGTCAACATGGTAAAACCCTGGCTCTACTAAAAATACAAAAATTAACTGGGCGTGATAGCAGGCACTGAGGCTGCAGAACAGCTTAAACCTGAGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTGCAGCCTGGGTGACTGAGTGAGACTGTTTCAAAAAAGAGTGTTACTCAAGAAACATTGAGATTATTTTCAGAATTTTTGTATTCATGTTTTTAAAATTTGAATGTGTTTCTTTAATTTCTTACAGGGCTCTCACCTTTGTGTATCCTTTTGGTGCCACATTGAGTGTCATGAAACCAGCAGTGGCGGTTCTGTCTACAGGTTCTGTCTGCTTCCCACTTAACAGACCCATTTTGGCTTTCTATCACTCAAAGGTACAGCTTTTCTTAGATATGGGTATAGATGTTATTTTTATTGTTGAAATAATAAAAACCACCTTACCATTTCCAGAAGGCTTCTATATGTTTTCTCACTGGTCTTCCTGCCAGTCCTGCAAAGTAGCATTTCAGCTATATACATTTTGCTTATGGGGAAACAGTGGATTGTCCAGTAATTGATGAAGTTAAGGCCTAAACCTAGCTCTTATTATTCTAAACCCGAAGCTTTTCCACTGTAGCATGAGGCTACCTGTATTATAACTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTAAGACTACAGGCACCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCATCCTGCCTCGTGGTCCACCCGCCTTGGCCTCCCGAAGTGCTGTATTATAACTTTTAAAATAACTTTTTTTTTTTTTTGATCCCATGGCAGCATATTGATGAAAATAACTTTTAATCCTGTCTGTGACTATGGGCTGTCACCCTCAGTGTAAAGAGAATACATTCAGGAACAGATGGAGTTAACATATTACACAAAATAGCACAGAATTATGTTGCTGTTAGTTTATACTAGGAAAATATATCAGAAAACTATTTTTCCAGTTATTATCCTAGAGACCCCATAGAAATGTGGGCACAGCTAGTCCCAGGCAGTGACCCAACATCCCACTGCCTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGTGCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCAAGCATGGCTAATTTTTGTATTTTTGGGAGAGATGGAGTTTCACTATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAATCTCTGCCTCCCGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCCTGCACCACCACACCCTGCTAATTTTTGTATTTTAATAGAGATGGGGATTTACCATGTTGCCCAGGCTGGTCTTAAACTTCTGAGCTCAGGCAATCCCCCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCCCCACTGCGTTTTAATTCACATTTTGCTGAATTTACCTTCATCTGCCCCCTAAGACAGAATTCACCAGCTGATCTCCTAATTTTTTTTCTAGGGACCTAGGTGTCTCTAGCTCTGAACAATCCTATTTTTCTTTGTGGTACCTAGGAATTACCTTTCCCTTCTTATTTAAAAGCTCTCGGGCTGGGCGTGGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTCCAAGACCAGCTTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTGACCAGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAATTACAAAAATTAGCTGGGCGTGGTGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGAGGCAGAGTGAGACTCCGTCTCAAAGAAAAAAAAAATATTGAAAAATTAGCCAGG | GTACAAAAAGTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGGGAATTGCCTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTGATAAGAGCAAAACTCCATCTCGAAAAATAATAATAATAATAATAATAGCAGATAGTTTTTATCTTGCTACTCAAGTGTCCGTTCTCCCTTATGCCTTGAGAATCATCTTCCATTGATTGCATTTTGGGAAAATGTGGGGGATAGATGTGCATTGACCTCCATATGACTATTTCTCCCACCTACTTTTTCTTCCTCCATGGACAACTGCTTGTTTTCTTCTGCTTCTGGCCCAGAGATCATGGGCTGTAATCCACCTTGCTGGGATACTGCTGGAGTAAGGGTAGAAGGTGGAGTTTGGAGAATGTGGGCCAAGTACCACTTCTCTTTCATAGTATGACAACAAAAGTCATAGGGTAGATGAGATTTTACTGAAGGAATGGGGAAGATTAACACCAGAGGGAGGCCAGGCCCGGTGGTTTATGCTTGTAATTCCAGCACTTTCGGAGGTCAAGGTGGGCGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCGTTTCTACAAAAAATATAAAAATTAGTAGGTGTGGTGGCATGCACCTGTGGTCCCAGCTACTCAGGGCACTAAGGCAAGAGAATCGCTTCAGCCCAGGAGATTGAGGCTGCAGTGAGCCATGTTCATACCACTGCACTCCAGCCTGGGCAACAAAGTGAGATCCTGTCTTAAAAAACAAAACAAAACAAACAAAAACACTAGAGGGAAATAATTTTAAACTTAAGCCAAAAAGAATTTTTGTTGTCTAAAGAAAAAGGGAAATTAAAATCTCTATGAGGAACCCCTCATGGGTGCTTCCCCTATACCCCCTCCCCCAGTTTCTAACCTTACGCCCTGGTGTTGAGATCTGTGTTTCTCTCCATTCTGAGAGCACTTCCTTCAAGCTTTGCAGAGCTCCATCTTTGAGTAAAACCCTAACCCCTCCTACATGGGTTGGCTTCACCCCAGAATCTGCACCCCACCTTTGCTCCTCTATCCCACACCCTCTCCAGGAGTACATTGCCCCAGGTCAGACCAATTCACTCTAGATAATCTAAGACAAGTCTTTGTTAGGACAGTGGAGAGTAGAGGAGGGACTCCAAAGCAGATCTGTGTAGAAGTGTCCATTATAGCGTATATTTATGCCTCTGTTCATGTGACATTTAACTGGTAACATACCCATCCAGTGATATACATTAATTCTTAGAGATAGCACTAGCCAAACCTAAGGAAGAAGAACGTATTTACCAGTAAGATATTATTATGCAGAGCAGCTTGAGTTCAGTTCTTGGATGAGGCCCCATCCTCTTCCTCCTCCCTCCATCAGGGGCTTCTTTAGTTCTCCCAGTTACAGTCACTTACACTTTCCTGTTAATTTACTTTCATGTTTTTTAAAATGCTTTATTAAATGTGTAGCTAGAGTTGTCCCAGTTTTTAAGTTAACAAACCAAAGCTTAGAAAAAATTTTTTGTTTGATAATGAATCAAAGAGTGTTACTCAGCTGAGCACCGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGTCAACATGGTAAAACCCTGGCTCTACTAAAAATACAAAAATTAACTGGGCGTGATAGCAGGCACTGAGGCTGCAGAACAGCTTAAACCTGAGAGGCGGAGGTTACAGTGAGCCAAGATCGCACCACTGCACTGCAGCCTGGGTGACTGAGTGAGACTGTTTCAAAAAAGAGTGTTACTCAAGAAACATTGAGATTATTTTCAGAATTTTTGTATTCATGTTTTTAAAATTTGAATGTGTTTCTTTAATTTCTTACAGGGCTCTCACCTTTGTGTATCCTTTTGGTGCCACATTGAGTGTCATGAAACCAGCAGTGGCGGTTCTGTCTGCAGGTTCTGTCTGCTTCCCACTTAACAGACCCATTTTGGCTTTCTATCACTCAAAGGTACAGCTTTTCTTAGATATGGGTATAGATGTTATTTTTATTGTTGAAATAATAAAAACCACCTTACCATTTCCAGAAGGCTTCTATATGTTTTCTCACTGGTCTTCCTGCCAGTCCTGCAAAGTAGCATTTCAGCTATATACATTTTGCTTATGGGGAAACAGTGGATTGTCCAGTAATTGATGAAGTTAAGGCCTAAACCTAGCTCTTATTATTCTAAACCCGAAGCTTTTCCACTGTAGCATGAGGCTACCTGTATTATAACTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTAAGACTACAGGCACCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCATCCTGCCTCGTGGTCCACCCGCCTTGGCCTCCCGAAGTGCTGTATTATAACTTTTAAAATAACTTTTTTTTTTTTTTGATCCCATGGCAGCATATTGATGAAAATAACTTTTAATCCTGTCTGTGACTATGGGCTGTCACCCTCAGTGTAAAGAGAATACATTCAGGAACAGATGGAGTTAACATATTACACAAAATAGCACAGAATTATGTTGCTGTTAGTTTATACTAGGAAAATATATCAGAAAACTATTTTTCCAGTTATTATCCTAGAGACCCCATAGAAATGTGGGCACAGCTAGTCCCAGGCAGTGACCCAACATCCCACTGCCTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGTGCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCAAGCATGGCTAATTTTTGTATTTTTGGGAGAGATGGAGTTTCACTATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATTCACCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAATCTCTGCCTCCCGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCCTGCACCACCACACCCTGCTAATTTTTGTATTTTAATAGAGATGGGGATTTACCATGTTGCCCAGGCTGGTCTTAAACTTCTGAGCTCAGGCAATCCCCCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCCCCACTGCGTTTTAATTCACATTTTGCTGAATTTACCTTCATCTGCCCCCTAAGACAGAATTCACCAGCTGATCTCCTAATTTTTTTTCTAGGGACCTAGGTGTCTCTAGCTCTGAACAATCCTATTTTTCTTTGTGGTACCTAGGAATTACCTTTCCCTTCTTATTTAAAAGCTCTCGGGCTGGGCGTGGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTCCAAGACCAGCTTGGCCAACGTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTGACCAGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAATTACAAAAATTAGCTGGGCGTGGTGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGAGGCAGAGTGAGACTCCGTCTCAAAGAAAAAAAAAATATTGAAAAATTAGCCAGG |
Task1_train_27865 | The gene JPH2 (junctophilin 2) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypertrophic cardiomyopathy 17 | GTAGAGGTTAAGTGAGTGGCAAAGGAACCAGTATGAACAAAAGCTCTGTGGCAGGAGGAACTAAAGAAGGAAGAACTAGCACAGAGGGAAGAAAACTCCAGGCTCAGGGAAAGAATGACAAAAAATAAGGCTGGGTAGGAGGGTGGGAACCTGATTAGAAAAGGCCACTCACTAACTGAGTGATTTTGGACAAGTCACCTTATCTCTCTGAGCCTCACTTAGCTCATCTGCAAAACAGAAATAAACACAGTACCTATCATAAGGTTGTTAAAGGGACTGAGTGAGTCCATATTTGTGAACCACTTAAAATTGCCTTGTACCTAGTAGGTGCCATAAATGTTTGGAGACAACATTAGAACTTTATCTGAAGCACAATGAGAAGACTTAAAGGGGTTTGAATGTAGATGATAGGGTGGGTGTTTAGTAGATGGGAGGGTGGATGGACGCATGGGTAGATGGATAGGTGGGGGAGGTTGAATGAATAGAAGTTTGGTTGAGTGATAGAGGTGGCTGGCTGGGTAGCTGGATGACCAGGCGGGTGGGTGGGAGTGGATGTTGTTTTAATGAACAGAAGTGTCGCTGGGTGGATAAATGGAAGTACTTGAGTGAATGGATGCGTGGCTGGATGTTAAGATGGGTGGCTGGGCAGCTGGAAGCAGCTGAGTGAATGCAGGTGATTGGTGGGTGAGGGGACGGGTGAGTGGTTGAAAGGGTATCTGTATGTTTGAATGGGCATCTGGGTAGTTGGACGGGTGGTTGAGTCGATGAATGGATGGGTGATGAGCTGGTTGAGTAGGTAAAAGGATGAAAAATTGGGTAGGTTGCATGGAATAGATAAGTAAATCTTTGAGTGAATGGGTGGTTGTTCAGGTAGATGTTAGGCTGTTGTTCAGGTGGATGTTCAGGTGTGATGTGGGACTGGAGGTGGGTGTGTGGGTGGAGGGGTTGTTCAGTGAGTGTTAGAGAAGTTAGTCAATGAAGGAATTGGGTGGATTTGGATGGATGTTTGGGTGGTTGACTGCGAGGTTGTGTGGATAGATGGATGACTGGATGACTGGGTGGGTAAACAGGAAGTGGAATGGGTAGGGGAATGGAGTGGATGACTGGAGAGATGGCTGTTCAGGTGGATATTAGAAAGGTTGGGTGAGTGGTAGGGTTAAGTCAGTGGAAGGGCTGGGTGTAACTGAGTGATGGATGGATGGGTGAGTGAACAGGAGCCACCAGCTCCCGAAGAGCCTCCAATTAACCCCTGAAGGTGATGGGGGTAAAAGAAGCAGAATCAGGCTTGGAGACAGGGCCTCCTAGGTTGCCCTGCCCCAGGACCCCCTTCTCCGAGGGGAGGCGACCCCTTCCCACCCCCACCGCTGTCCTACCTGGAGGCGGCAATCTCGGCCTTCTGGCGCGCGATAGCAGCGGCGCGCTGGGCACCCTCCACACTGTGCTCCACTTTCTGGCGGACCTTGTTGCTCTTGAGCTGCAGCATGCGGCGCTTGGTGTCCTTGACCAGCACGTTGTGGCGGTACTTGCCCTCCTCGCGGTGGCCGTCGGGCAGCGTGGTGCAGCCATAGCCGTGGCGCAGGTTGTCCAGCCACTCGCCCTCGTAGCGGAGGCCACTGGAGCGTTCGCTCACGCCGAAGCCCGAGCGTTTGTCGTTCTTCCACTCGCCCATGTAGGTCTCGGTGGTGGTGGCGTCGATATCGGCCTCGAAGGGTGCGGCCTCGTCGGCGCCCTCGGCGGCCTCTCCCAGGCTGGCGGTGGACGCGGCGTCGCTGGCGCCCGAGCTGAGGTCGCTCTTAAGGAAGCTGACACGGCTGCGCTGGCTACCCACGGACGTGCGCGACTCTGCGCGCCGCAGCTTGCCCAGCAGCGCGCCCCGCTGGAAGAGGCCGCCGCCCTTGGGCGCCCGCGCGGCCGCCTCGGCATTGGCCAGGAGGCTGAGCGCGAAGCCGCCACGCGGGATGGCGGGCGAGGGCAGCGCGGGGCCGTCGGAGGCCGGCGAGGCGGGAGAGTCCGGGGCCACCGTGCCGTTGCTGTGCTCGCTGCGCAGGGACGACAGCGACGTGCGCAGCGGCGAGCGCACCACCACGGCCATCCCGTAGGGCACGCTCTGGCGTACTCCGTAGCCATGGCGCATGCCGTTGGTGAACTGGCCTTGGTACGTCCCTGCGGGCGAGGAGAGGGCGCGTCAGTAGGCGGCACGACGGGTCCCCGCGTGTGCACGGTGGCCTGGGAGGGCAAGGGCGGGAGTGGGCAAGGCGGGGTGGGACCGAGAGGCGCAAGGCCGTCTGAGGGTCAGGGTGCACAGTGCTATGAGTGTTTGAGTCTACTCGAGTGTGCAATAACACGAGTGGGTGAGCCAGGAGGAGCTTGCACGATGGTAGGAATACGTTGGTGGGAACATGGCAAGGTCACAAGTCGTGAACGGATAAGCTAGTGAGTTCGCATGGTAGTGCAAATGTTGGAGAGCATGGGCTTGTGTGTGTATTTGTGCAAGATCGTGCGTACAAGACACTTGTGGGCGTGCATATCGGTGTCTTTTGACTATATGAGATCATGAGGTGGGGGCAGGTGGCTCACGCCTGTAATCCCAGCACTTGGGAAGGTGGAGGCGGATGGATCGCTTGAGCTCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCTCTCTCTACAAAAAAATTAGTCAGGCGTGGTGGCATGCACCTGTGGTCCCAGCTACTAGAGAGGCTGAGGTGGGAGGATCACCTGAGCCCGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGCTACAGACTGAGACCCTGTCACACATACACACACACACACAAATCATGAGTGTGCAGGGTAGTGTGTGCACAGTGGGGTGAGTGCCTGAGATCTCACGGAGTTGACATTATGGATGTGTATGAGGTTCTGAGTGTGCAAGGCTATCAGAGTGCCAAAGAACAAAGTAATATGTAGCACTCCAGGCTGAGTGTGTGAGGTGATGGGCATCAGTGAAACCGAGACACTGAGACCGTATGAAACCATATGGAGGAAGGCTAGTGGTGTGTACAAGGTGTCGGCAACTTAGGCCCTGCATGTACACAAGTCCATGAGCTCCTGGGATTAAGATGCCTTATGTTAGCAGCCATCCAAGTCTTATGTGTGTGGAGAGGCAGCAGGGAGTAGTGGTTCAGAGCACAAACTCCAGAGCCAGGCTCCCTGGGTCCAGATCCTGCCTCTGCCCTTACTAGCTGTGTGACCTTGGGCAACTGACTTAACCTCCCTGTACCTTAGCTTCCTTATCTGCCAGAGGTAATAACTGCCTCTTACCTCCTAGGGTTTTTTTTTGAGGTTTAAATGAGTTAATGTCTCCGAAAAACTCTGAAAGCAAAGATATGTGTGTGATACTGTGATTCTACAAAGTTGTGCTCACGTGTGAGGTCACCTGAGTTGTATGACAAGCTGATACACAGCTGCCAAAATAACTTCATCCTTCACCCCCATCCTGACATGTAGTTCTCCCCAGGGCTCATCCAAAAACCTTCTCCTATTCTCTCTAGATGACTGCACATCTAGTGTTTTTAAACTGCCATTTATGTCCTGCTGACCTCCCCAAATATATCCCCAACCCCTCCCTCTCCCTTCGGTAGCTCCAGATGTCACCTTGGAAATTTGTGTTCCCTCAGATGGTACACAGCCACCTCCAGCTCACATCTGCCCTCACTCACCCCACACACACACCTGGGCCACAGTCCTGGTCTTTCTTTCCCACAGCAGTGCTGCTGAAAGGCAGTTCTCTGCCTTCGTCTTTGTACCTCCACCATGTAGAACGGTACCTGATACATAACGTTCACTGCACCGAAGGCAGAAATTCTGAGGCTTCTTTGTTTTAAACACAAGCTGATACATTCTCCCTAGTTAACAAAAACCAAAAGGTCTTCCTGCTAATAAATGTCCAGGAGCAAGATGGCTGAGTAGACAACCAAGGATGGGACTCCTAAACTCACCCCAGCAGATCTGCTGTTGCACTGCTCTTCCCTCTTCCTGGAACTCTTTTCCTCCAGATATCCTTCAAGTCTTTGCTCAAT | GTAGAGGTTAAGTGAGTGGCAAAGGAACCAGTATGAACAAAAGCTCTGTGGCAGGAGGAACTAAAGAAGGAAGAACTAGCACAGAGGGAAGAAAACTCCAGGCTCAGGGAAAGAATGACAAAAAATAAGGCTGGGTAGGAGGGTGGGAACCTGATTAGAAAAGGCCACTCACTAACTGAGTGATTTTGGACAAGTCACCTTATCTCTCTGAGCCTCACTTAGCTCATCTGCAAAACAGAAATAAACACAGTACCTATCATAAGGTTGTTAAAGGGACTGAGTGAGTCCATATTTGTGAACCACTTAAAATTGCCTTGTACCTAGTAGGTGCCATAAATGTTTGGAGACAACATTAGAACTTTATCTGAAGCACAATGAGAAGACTTAAAGGGGTTTGAATGTAGATGATAGGGTGGGTGTTTAGTAGATGGGAGGGTGGATGGACGCATGGGTAGATGGATAGGTGGGGGAGGTTGAATGAATAGAAGTTTGGTTGAGTGATAGAGGTGGCTGGCTGGGTAGCTGGATGACCAGGCGGGTGGGTGGGAGTGGATGTTGTTTTAATGAACAGAAGTGTCGCTGGGTGGATAAATGGAAGTACTTGAGTGAATGGATGCGTGGCTGGATGTTAAGATGGGTGGCTGGGCAGCTGGAAGCAGCTGAGTGAATGCAGGTGATTGGTGGGTGAGGGGACGGGTGAGTGGTTGAAAGGGTATCTGTATGTTTGAATGGGCATCTGGGTAGTTGGACGGGTGGTTGAGTCGATGAATGGATGGGTGATGAGCTGGTTGAGTAGGTAAAAGGATGAAAAATTGGGTAGGTTGCATGGAATAGATAAGTAAATCTTTGAGTGAATGGGTGGTTGTTCAGGTAGATGTTAGGCTGTTGTTCAGGTGGATGTTCAGGTGTGATGTGGGACTGGAGGTGGGTGTGTGGGTGGAGGGGTTGTTCAGTGAGTGTTAGAGAAGTTAGTCAATGAAGGAATTGGGTGGATTTGGATGGATGTTTGGGTGGTTGACTGCGAGGTTGTGTGGATAGATGGATGACTGGATGACTGGGTGGGTAAACAGGAAGTGGAATGGGTAGGGGAATGGAGTGGATGACTGGAGAGATGGCTGTTCAGGTGGATATTAGAAAGGTTGGGTGAGTGGTAGGGTTAAGTCAGTGGAAGGGCTGGGTGTAACTGAGTGATGGATGGATGGGTGAGTGAACAGGAGCCACCAGCTCCCGAAGAGCCTCCAATTAACCCCTGAAGGTGATGGGGGTAAAAGAAGCAGAATCAGGCTTGGAGACAGGGCCTCCTAGGTTGCCCTGCCCCAGGACCCCCTTCTCCGAGGGGAGGCGACCCCTTCCCACCCCCACCGCTGTCCTACCTGGAGGCGGCAATCTCGGCCTTCTGGCGCGCGATAGCAGCGGCGCGCTGGGCACCCTCCACACTGTGCTCCACTTTCTGGCGGACCTTGTTGCTCTTGAGCTGCAGCATGCGGCGCTTGGTGTCCTTGACCAGCACGTTGTGGCGGTACTTGCCCTCCTCGCGGTGGCCGTCGGGCAGCGTGGTGCAGCCATAGCCGTGGCGCAGGTTGTCCAGCCACTCGCCCTCGTAGCGGAGGCCACTGGAGCGTTCGCTCACGCCGAAGCCCGAGCGTTTGTCGTTCTTCCACTCGCCCATGTAGGTCTCGGTGGTGGTGGCGTCGATATCGGCCTCGAAGGGTGCGGCCTCGTCGGCGCCCTCGGCGGCCTCTCCCAGGCTGGCGGTGGACGCGGCGTCGCTGGCGCCCGAGCTGAGGTCGCTCTTAAGGAAGCTGACACGGCTGCGCTGGCTACCCACGGACGTGCGCGACTCTGCGCGCCGCAGCTTGCCCAGCAGCGCGCCCCGCTGGAAGAGGCCGCCGCCCTTGGGCGCCCGCGCGGCCGCCTCGGCATTGGCCAGGAGGCTGAGCGCGAAGCCGCCACGCGGGATGGCGGGCGAGGGCAGCGCGGGGCCGTCGGAGGCCGGCGAGGCGGGAGAGTCCGGGGCCACCGTGCCGTTGCTGTGCTCGCTGCGCAGGAACGACAGCGACGTGCGCAGCGGCGAGCGCACCACCACGGCCATCCCGTAGGGCACGCTCTGGCGTACTCCGTAGCCATGGCGCATGCCGTTGGTGAACTGGCCTTGGTACGTCCCTGCGGGCGAGGAGAGGGCGCGTCAGTAGGCGGCACGACGGGTCCCCGCGTGTGCACGGTGGCCTGGGAGGGCAAGGGCGGGAGTGGGCAAGGCGGGGTGGGACCGAGAGGCGCAAGGCCGTCTGAGGGTCAGGGTGCACAGTGCTATGAGTGTTTGAGTCTACTCGAGTGTGCAATAACACGAGTGGGTGAGCCAGGAGGAGCTTGCACGATGGTAGGAATACGTTGGTGGGAACATGGCAAGGTCACAAGTCGTGAACGGATAAGCTAGTGAGTTCGCATGGTAGTGCAAATGTTGGAGAGCATGGGCTTGTGTGTGTATTTGTGCAAGATCGTGCGTACAAGACACTTGTGGGCGTGCATATCGGTGTCTTTTGACTATATGAGATCATGAGGTGGGGGCAGGTGGCTCACGCCTGTAATCCCAGCACTTGGGAAGGTGGAGGCGGATGGATCGCTTGAGCTCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCTCTCTCTACAAAAAAATTAGTCAGGCGTGGTGGCATGCACCTGTGGTCCCAGCTACTAGAGAGGCTGAGGTGGGAGGATCACCTGAGCCCGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGCTACAGACTGAGACCCTGTCACACATACACACACACACACAAATCATGAGTGTGCAGGGTAGTGTGTGCACAGTGGGGTGAGTGCCTGAGATCTCACGGAGTTGACATTATGGATGTGTATGAGGTTCTGAGTGTGCAAGGCTATCAGAGTGCCAAAGAACAAAGTAATATGTAGCACTCCAGGCTGAGTGTGTGAGGTGATGGGCATCAGTGAAACCGAGACACTGAGACCGTATGAAACCATATGGAGGAAGGCTAGTGGTGTGTACAAGGTGTCGGCAACTTAGGCCCTGCATGTACACAAGTCCATGAGCTCCTGGGATTAAGATGCCTTATGTTAGCAGCCATCCAAGTCTTATGTGTGTGGAGAGGCAGCAGGGAGTAGTGGTTCAGAGCACAAACTCCAGAGCCAGGCTCCCTGGGTCCAGATCCTGCCTCTGCCCTTACTAGCTGTGTGACCTTGGGCAACTGACTTAACCTCCCTGTACCTTAGCTTCCTTATCTGCCAGAGGTAATAACTGCCTCTTACCTCCTAGGGTTTTTTTTTGAGGTTTAAATGAGTTAATGTCTCCGAAAAACTCTGAAAGCAAAGATATGTGTGTGATACTGTGATTCTACAAAGTTGTGCTCACGTGTGAGGTCACCTGAGTTGTATGACAAGCTGATACACAGCTGCCAAAATAACTTCATCCTTCACCCCCATCCTGACATGTAGTTCTCCCCAGGGCTCATCCAAAAACCTTCTCCTATTCTCTCTAGATGACTGCACATCTAGTGTTTTTAAACTGCCATTTATGTCCTGCTGACCTCCCCAAATATATCCCCAACCCCTCCCTCTCCCTTCGGTAGCTCCAGATGTCACCTTGGAAATTTGTGTTCCCTCAGATGGTACACAGCCACCTCCAGCTCACATCTGCCCTCACTCACCCCACACACACACCTGGGCCACAGTCCTGGTCTTTCTTTCCCACAGCAGTGCTGCTGAAAGGCAGTTCTCTGCCTTCGTCTTTGTACCTCCACCATGTAGAACGGTACCTGATACATAACGTTCACTGCACCGAAGGCAGAAATTCTGAGGCTTCTTTGTTTTAAACACAAGCTGATACATTCTCCCTAGTTAACAAAAACCAAAAGGTCTTCCTGCTAATAAATGTCCAGGAGCAAGATGGCTGAGTAGACAACCAAGGATGGGACTCCTAAACTCACCCCAGCAGATCTGCTGTTGCACTGCTCTTCCCTCTTCCTGGAACTCTTTTCCTCCAGATATCCTTCAAGTCTTTGCTCAAT |
Task1_train_27866 | A mutation in JPH2 (junctophilin 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypertrophic cardiomyopathy 17 | CACGACCTATGGTTTGCTAGGCCCTAATTTAAAGCAACTTTTTAAACTTTGATGTTATAAAAATTGCCTGATACACTTGTGAAAGCAGTGTTTGGACACACACTCAGAGATTCTGATGAGAAGGTCTGGGTGGGCCACTGAATTTGCATTTCTAACTGGTGGATCAATGGTGCTGATGCTGCCCGTCCACCGTCCACATTTTGAGCAGTACTGATATTCTAAAGTGTCCCTTTTCACAGATGAGGAAACTGGCTTAGCTAAGTGATATGTCCATGTACACCCTGTGGACTAGGTAATGACATCTGCTCTGCCACTCCACAGGGCTGTTTTGCCACAGAAAACTCCTCTCTGATTCTTTAACCCACTGCTACCCTCATGCTTCTGAGCCTTTGTCTTCACTCTTCTCTCTGCCCCATGCCCACCCTCACAAACGTAACTGTCCTGTCGAGACCAAGCTCAGGCGTCAGCTCCATTTAAAGTATTTCCTGACCTCCTCAAATCTAAATTCTCCTTTCTGCAACAGTATCTGTACATACTTGTGTATAATGTGTATAACTGTTTGTCTGCATGCCTATCTTTGTTTTTCGATTTTTCGTTTTGTAAAAATGGGGATCTTGCTAGATTGCCCAGGCTGGTGTTGAACTCCTGGCCTCAAGTGATCCTCCCACCACAGCTTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACGGAGTCCAAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCCACATAGTAAGACCCCATCTCTACAAAAAAAGAAAAAACAATTAATTAGCTAGGCTTGGTGGCATGTGCCTTGTAGTTCCAGCTACTCAGGAGGCCAAGATGGGAGGATTGCTTGAGCCCAGGAGTTCAAGGTTGCAGTGAGCTGTGATTGTGCCACCGCACTTCAGCCTGAGCAACAAAGCAAGACCTATCTTTAAAAAATTTAAAAAAGGAAACACAAAAGGAATGTAGGCCCGGCACAGTGTCCCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGACAGGCAGATTGCTTGAGCTCCGAAGTTTGAGACCAGTCTGGGCAATATGGAAAAGCCCTGTCTCTACAAAAAAAAAAATAATAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTCCCAATTACTAGGGAAGCTGAGGTTGGTGGACCACTTGATCCTGGGAGATCAAGGCTGCAAAGAGCCGAGATCATGCCACAACACTCCAGCCTGGGCAACAGAACGAGAACTTGTCTTGGAAAAAAAAAAAAAGAATCCATGGATGGATCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGAAAGATGGATGGGTGGATGGGCAGGTAGATGTATGAATGGCTGGATGGGTAGATGAATGGTTGGGTGGAAGCATGAATGCGTGGGTGGGTAGATGGATGGATGGGCAGGCAGGTGGGTGGATGGATGAATGGATGGATGGACGGGTGGGTGGATTGGTGTGTGGATAGATGATGAGTGGATAGTTGGATGGGTGGATGGATGGATGGGTGGGTGGATGAATACTCCTCATGATCTATTGCTTGAAAATAATTTTCATGGCAAAGTTAAGACTAGACCCTAATTCTGCTAGAGTATATTCCATGGCTGTTTATGTTGGGGCATACCGAACATGCTAATGGTAGTAGTTATATTTTATTGTGTGTTGAGTGTGCACTTACATGGCAGGCTTTGTACTAAGCACTGCCACTAATCCTCTCAATAACCCCTTTATTAGCTCCATCTTTACTACAAGAAAATGGAAGCTCAGAAAGGTAGAGCAGCTTGCCCAAAACCACACAGCAAATCACTTCCTAGCCCATCTGATTCTGTGCCAATTGCCGGTCGCCTTTCCCACCCTCCACCAGGGTTTCTCACCCTCCCTGGCTCCACCCCACCTCTGCGGGCCCCCAGCTGGCCTCACCTCCATCAGCATAGGTCTCGGTGCCATAGCCGTCTTGCAGGCCATTGTTCCAGGTGCCCTCATACTTGGCACCGCTGCTTGAGCTCTGCCGGATTCCGTAGCGTCCCTTGAAGCCATGTGTCCACTCGCCCTTGTAGAGCCAGCGCCCCTTGGTCTCTATGCCCAGCCCATGCCGTTTGCCCTGGCTCCAGTATCCCTCAAAGGTGTTTCCGCTGGGCCAGGTGTAGACACCTGCCACCTCAAAGCCAAAGTTCCAGGAGCCAGAGTATTCGCCCTGGCCCTTGGGGCCTGTGCACAGTCCATGCCCATGGGCCTTTCCCCCCTCCCAGCCCCCGCAGTACGCCCCTCCATCATCAAAGTCGAAGCGGCCCCCACTCATCTCATCATAGCCCCTGACAACCTCCCCGTCCTCCAGCGTGGGTGCAGAGGGCGTGGGTGATGCCTGCAACACTCCTCCAGTGCCCTCGGGGGCAGGCCCCCAGACTCACCACTGCACCCCAGGAGGGGGGAAGCAGGATGCCAGCAGAGGCTGAAAGAGCCCCGGCGCCAAGTCAGCACCGGGTCGGCTAGTCAGTGCCATGCCCGGGAGCCCCGACTCCACCAGCCAGAGCAAGGCTGCCTGCTGGAAAGAAAGCAGGAAGGAAAGGTTCAAAGTCCCCACAAAGCGTCCCAAGTCTGCCTTCCAAGAAGTCCAAGGGAAAACGGTGTGATCTCTTTAAGAAGCCCAGTGAAAGGGTGGGGTGGAGGGGTCCCCAGCCTTTTCAAAGAGGGGAAATTCCCCTCGGTGGCAGCCCCCGCCGGAGGCTGAATTCCCGCAGCCCGCTGGCCCCCTTCTCCACCCCAGTGGGTGTGCGGGGCTGTCGGTCTCCCCGCCGCTGCCCCGCCCCCTTCTCCAATCCTGCCCTCCTTCTGGGACGGAAAGGTCAGTGTTGCCCTAACAAGGCCATTGGATCTCAGAAGCTGCTCCCAAAATAACCCCCAGCCAGCCCAGCCTTCTTCAAAGCGGGAAGGAGGGGTATTTCAAATCGCGCCCGTGCCGCAGACCCGGGCAGTGGCTGGAGGCATGAGGAAGGAGGCTGAGAACTGAGTGCAGGCAGCCCAGGGAACCTGGTGTCTTTTCCTCCCGGGAATGAGAGCTCCCTTCCATTCTCAGAGTCCCCTGGGTCTGCGCGCAGGGAGGGCACCGGGGAATCGGGGAAGGGAGGGGAGAGGGAGACCAGCAGAACACCCAGTCCTGGAACACTGAAAATCCCCCAGAGCGAGGAGGTTGGCAGATCTCAGCCCCATCACCACTCACATGCCCTAAGGGGACCTGGGGTTACAGCACCACTGCCAGCCCCATCAAGGAATCCAGTGACCTAAAGAGAAAGGAATGGAGACAGTTTCACATGTGCTTCCGAAAGCAGAGGAGGGAAGTCAGAAAGAGAGGGGAGGCTGTGGAAACAGGGTCTGGAAGATACACAGAATCTCAGTCCAGTGCTCACTCACCACCCTGAGCTCCCTCCACCCCTGGAAGCCGGGGAGAACTTGGTGCAAGAAGCAACCATCTATTCCCTTTCTCTTTCTCCTGAAGGGCAAAGAGAAGGGAGAGGAGCCTGCCCTCCTCTCTGCCTGAGACACAGACTGGGCGTCCCGCTAGCTTCCTCTCCCCACCCCTTGATGCCTCGGCGCCCTCCCTGCCCCCTGCCGCAGACCCAGCAGACCCTGAAGGTCAAAGGAGTCCCCTTCCTGTCAACACAGGGTTGTGTTGTAATGAGGTCCTCTCAGAAATTCTCAAGGGTCATGATTTTTTAAAATTTCCCTTTCTGAGCTGTCTTTTGCTCTAGTGTCCTAGGAGCCTGTGAGGCCAGACTTCAGAAAGCTCTTGGGGCAGGGCCAGGAGAGAAGGGCCTGGGTGGATTCCCAGCCACTCAGGTTCCCACCAAACTCCAGTAAAAAGAACAAATAAATCTCCATGGCAAGAAGCTGTGGCCAGAGCTAATGATTGTAAATCCCAGCTAAGCCCAAGGTTAATGGGAGTATAGAGGAATTCTGGGAAAGGTAAGAGCCACCAAGACTAGGAAGATCTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGAACGTGTGTCTGTGAGAGTGTGAGAGAGT | CACGACCTATGGTTTGCTAGGCCCTAATTTAAAGCAACTTTTTAAACTTTGATGTTATAAAAATTGCCTGATACACTTGTGAAAGCAGTGTTTGGACACACACTCAGAGATTCTGATGAGAAGGTCTGGGTGGGCCACTGAATTTGCATTTCTAACTGGTGGATCAATGGTGCTGATGCTGCCCGTCCACCGTCCACATTTTGAGCAGTACTGATATTCTAAAGTGTCCCTTTTCACAGATGAGGAAACTGGCTTAGCTAAGTGATATGTCCATGTACACCCTGTGGACTAGGTAATGACATCTGCTCTGCCACTCCACAGGGCTGTTTTGCCACAGAAAACTCCTCTCTGATTCTTTAACCCACTGCTACCCTCATGCTTCTGAGCCTTTGTCTTCACTCTTCTCTCTGCCCCATGCCCACCCTCACAAACGTAACTGTCCTGTCGAGACCAAGCTCAGGCGTCAGCTCCATTTAAAGTATTTCCTGACCTCCTCAAATCTAAATTCTCCTTTCTGCAACAGTATCTGTACATACTTGTGTATAATGTGTATAACTGTTTGTCTGCATGCCTATCTTTGTTTTTCGATTTTTCGTTTTGTAAAAATGGGGATCTTGCTAGATTGCCCAGGCTGGTGTTGAACTCCTGGCCTCAAGTGATCCTCCCACCACAGCTTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACGGAGTCCAAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCCACATAGTAAGACCCCATCTCTACAAAAAAAGAAAAAACAATTAATTAGCTAGGCTTGGTGGCATGTGCCTTGTAGTTCCAGCTACTCAGGAGGCCAAGATGGGAGGATTGCTTGAGCCCAGGAGTTCAAGGTTGCAGTGAGCTGTGATTGTGCCACCGCACTTCAGCCTGAGCAACAAAGCAAGACCTATCTTTAAAAAATTTAAAAAAGGAAACACAAAAGGAATGTAGGCCCGGCACAGTGTCCCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGACAGGCAGATTGCTTGAGCTCCGAAGTTTGAGACCAGTCTGGGCAATATGGAAAAGCCCTGTCTCTACAAAAAAAAAAATAATAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTCCCAATTACTAGGGAAGCTGAGGTTGGTGGACCACTTGATCCTGGGAGATCAAGGCTGCAAAGAGCCGAGATCATGCCACAACACTCCAGCCTGGGCAACAGAACGAGAACTTGTCTTGGAAAAAAAAAAAAAGAATCCATGGATGGATCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGAAAGATGGATGGGTGGATGGGCAGGTAGATGTATGAATGGCTGGATGGGTAGATGAATGGTTGGGTGGAAGCATGAATGCGTGGGTGGGTAGATGGATGGATGGGCAGGCAGGTGGGTGGATGGATGAATGGATGGATGGACGGGTGGGTGGATTGGTGTGTGGATAGATGATGAGTGGATAGTTGGATGGGTGGATGGATGGATGGGTGGGTGGATGAATACTCCTCATGATCTATTGCTTGAAAATAATTTTCATGGCAAAGTTAAGACTAGACCCTAATTCTGCTAGAGTATATTCCATGGCTGTTTATGTTGGGGCATACCGAACATGCTAATGGTAGTAGTTATATTTTATTGTGTGTTGAGTGTGCACTTACATGGCAGGCTTTGTACTAAGCACTGCCACTAATCCTCTCAATAACCCCTTTATTAGCTCCATCTTTACTACAAGAAAATGGAAGCTCAGAAAGGTAGAGCAGCTTGCCCAAAACCACACAGCAAATCACTTCCTAGCCCATCTGATTCTGTGCCAATTGCCGGTCGCCTTTCCCACCCTCCACCAGGGTTTCTCACCCTCCCTGGCTCCACCCCACCTCTGCGGGCCCCCAGCTGGCCTCACCTCCATCAGCATAGGTCTCGGTGCCATAGCCGTCTTGCAGGCCATTGTTCCAGGTGCCCTCATACTTGGCACCGCTGCGTGAGCTCTGCCGGATTCCGTAGCGTCCCTTGAAGCCATGTGTCCACTCGCCCTTGTAGAGCCAGCGCCCCTTGGTCTCTATGCCCAGCCCATGCCGTTTGCCCTGGCTCCAGTATCCCTCAAAGGTGTTTCCGCTGGGCCAGGTGTAGACACCTGCCACCTCAAAGCCAAAGTTCCAGGAGCCAGAGTATTCGCCCTGGCCCTTGGGGCCTGTGCACAGTCCATGCCCATGGGCCTTTCCCCCCTCCCAGCCCCCGCAGTACGCCCCTCCATCATCAAAGTCGAAGCGGCCCCCACTCATCTCATCATAGCCCCTGACAACCTCCCCGTCCTCCAGCGTGGGTGCAGAGGGCGTGGGTGATGCCTGCAACACTCCTCCAGTGCCCTCGGGGGCAGGCCCCCAGACTCACCACTGCACCCCAGGAGGGGGGAAGCAGGATGCCAGCAGAGGCTGAAAGAGCCCCGGCGCCAAGTCAGCACCGGGTCGGCTAGTCAGTGCCATGCCCGGGAGCCCCGACTCCACCAGCCAGAGCAAGGCTGCCTGCTGGAAAGAAAGCAGGAAGGAAAGGTTCAAAGTCCCCACAAAGCGTCCCAAGTCTGCCTTCCAAGAAGTCCAAGGGAAAACGGTGTGATCTCTTTAAGAAGCCCAGTGAAAGGGTGGGGTGGAGGGGTCCCCAGCCTTTTCAAAGAGGGGAAATTCCCCTCGGTGGCAGCCCCCGCCGGAGGCTGAATTCCCGCAGCCCGCTGGCCCCCTTCTCCACCCCAGTGGGTGTGCGGGGCTGTCGGTCTCCCCGCCGCTGCCCCGCCCCCTTCTCCAATCCTGCCCTCCTTCTGGGACGGAAAGGTCAGTGTTGCCCTAACAAGGCCATTGGATCTCAGAAGCTGCTCCCAAAATAACCCCCAGCCAGCCCAGCCTTCTTCAAAGCGGGAAGGAGGGGTATTTCAAATCGCGCCCGTGCCGCAGACCCGGGCAGTGGCTGGAGGCATGAGGAAGGAGGCTGAGAACTGAGTGCAGGCAGCCCAGGGAACCTGGTGTCTTTTCCTCCCGGGAATGAGAGCTCCCTTCCATTCTCAGAGTCCCCTGGGTCTGCGCGCAGGGAGGGCACCGGGGAATCGGGGAAGGGAGGGGAGAGGGAGACCAGCAGAACACCCAGTCCTGGAACACTGAAAATCCCCCAGAGCGAGGAGGTTGGCAGATCTCAGCCCCATCACCACTCACATGCCCTAAGGGGACCTGGGGTTACAGCACCACTGCCAGCCCCATCAAGGAATCCAGTGACCTAAAGAGAAAGGAATGGAGACAGTTTCACATGTGCTTCCGAAAGCAGAGGAGGGAAGTCAGAAAGAGAGGGGAGGCTGTGGAAACAGGGTCTGGAAGATACACAGAATCTCAGTCCAGTGCTCACTCACCACCCTGAGCTCCCTCCACCCCTGGAAGCCGGGGAGAACTTGGTGCAAGAAGCAACCATCTATTCCCTTTCTCTTTCTCCTGAAGGGCAAAGAGAAGGGAGAGGAGCCTGCCCTCCTCTCTGCCTGAGACACAGACTGGGCGTCCCGCTAGCTTCCTCTCCCCACCCCTTGATGCCTCGGCGCCCTCCCTGCCCCCTGCCGCAGACCCAGCAGACCCTGAAGGTCAAAGGAGTCCCCTTCCTGTCAACACAGGGTTGTGTTGTAATGAGGTCCTCTCAGAAATTCTCAAGGGTCATGATTTTTTAAAATTTCCCTTTCTGAGCTGTCTTTTGCTCTAGTGTCCTAGGAGCCTGTGAGGCCAGACTTCAGAAAGCTCTTGGGGCAGGGCCAGGAGAGAAGGGCCTGGGTGGATTCCCAGCCACTCAGGTTCCCACCAAACTCCAGTAAAAAGAACAAATAAATCTCCATGGCAAGAAGCTGTGGCCAGAGCTAATGATTGTAAATCCCAGCTAAGCCCAAGGTTAATGGGAGTATAGAGGAATTCTGGGAAAGGTAAGAGCCACCAAGACTAGGAAGATCTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGAACGTGTGTCTGTGAGAGTGTGAGAGAGT |
Task1_train_27867 | A variant found in Chromosome 20 affects HNF4A (hepatocyte nuclear factor 4 alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Monogenic diabetes | GGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTG | GGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCTGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTG |
Task1_train_27868 | Located on Chromosome 20, this mutation impacts HNF4A (hepatocyte nuclear factor 4 alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Maturity-onset diabetes of the young type 1 | GGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTT | GGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCGGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTT |
Task1_train_27869 | This variant impacts the gene HNF4A (hepatocyte nuclear factor 4 alpha) on Chromosome 20. Is the change likely to result in a pathogenic outcome? | Pathogenic; Monogenic diabetes | TGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGG | TGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCCGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGG |
Task1_train_27870 | Gene HNF4A (hepatocyte nuclear factor 4 alpha) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Monogenic diabetes | ACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAG | ACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTTACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAG |
Task1_train_27871 | This genomic variant is located on Chromosome 20, within the HNF4A (hepatocyte nuclear factor 4 alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Monogenic diabetes | CCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGACAGC | CCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGAGGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGACAGC |
Task1_train_27872 | This variant affects gene ADA (adenosine deaminase) located on Chromosome 20. Evaluate its biological effect and specify any disease association. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | AGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATA | AGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCTGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATA |
Task1_train_27873 | A change on Chromosome 20 affects gene ADA (adenosine deaminase). 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-negative, due to adenosine deaminase deficiency | CAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAT | CAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTACACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAT |
Task1_train_27874 | This mutation is located in gene ADA (adenosine deaminase) on Chromosome 20. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Severe combined immunodeficiency disease | CCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAA | CCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCAGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAA |
Task1_train_27875 | A variant was discovered in gene ADA (adenosine deaminase), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | CCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAA | CCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCAGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAA |
Task1_train_27876 | Located on Chromosome 20, this mutation impacts ADA (adenosine deaminase). 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-negative, due to adenosine deaminase deficiency | CTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAA | CTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTCTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAA |
Task1_train_27877 | Gene ADA (adenosine deaminase) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAATAAA | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACAGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAATAAA |
Task1_train_27878 | With a mutation on Chromosome 20 in gene ADA (adenosine deaminase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Severe combined immunodeficiency disease | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAATAAA | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACTGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAATAAA |
Task1_train_27879 | This mutation is located in gene ADA (adenosine deaminase) on Chromosome 20. 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-negative, due to adenosine deaminase deficiency | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAATAAA | TATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACTGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAATAAA |
Task1_train_27880 | The gene ADA (adenosine deaminase), on Chromosome 20, 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-negative, due to adenosine deaminase deficiency | CTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAATAAAGCAGTCATGGAAATTTCTCTCTAGTACTCGCCCATACCCCTTCTGGGCCTTTTCGGTACCTAGTGCTGTTCCCTGGCGACT | CTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGACCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAAATAAATAAAGCAGTCATGGAAATTTCTCTCTAGTACTCGCCCATACCCCTTCTGGGCCTTTTCGGTACCTAGTGCTGTTCCCTGGCGACT |
Task1_train_27881 | Given this variant in gene PABPC1L (poly(A) binding protein cytoplasmic 1 like) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Female infertility due to zona pellucida defect | ATAGAAGGAAATGCTAATATGAAAATAAAGATGTCACTTTTTCCCCAATCCATGCAATTTCCCCCTAAATTGTATCCATGACCTACCTGAGGGGGATCCATGGACTCTCAGGTTAAGACCCCTCTACTGAAGGGTAGCAGAGTACAGTTTCAAAATTACTGATTAAGAGCGTGGGCTCACCAGGAGTTCAAGCCCAGCCGGGGCAACAGGATGAGACCTCATCTTTACAAAAAATGAACAAAATTAGGCATGGTGGTGCTTGTCTGCAGTCCCAGCTACTTGGGAGACTGAGTTGAGAGGATCACTTGAGGCTGAGAGGTTGAGGGTGCAGTTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAGATCCTGACTCAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGGAAAAAAAGAAGATTTTAAAAATAACTCTAGTCCTTATGGGCTGTATGAGCCAGGCCGGTGTCTTCACCCTAAAAAAAGGTTAAAAACCCAGGGCCAGGTGTGGTGGCTCCTGCCTGTAATCCCTGCACCTTGGGAGACCTAGGTAGGAGGATCTCTTGAGACCAGCCTGGGCAACATAGTGATTGCTGATCTCTACAAACTTAAAAAAAAAAATTAGCTGGGTGTGGTGGCATGTACCTATAGCCCTAACTACTTGAGAGGCTGAGGCAGGAGGATCCCTGGAGCCCGGGAGTTTGAGGCTGCAGTGAGCTATGATCATACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCTCTTTAAAAAACAAACAAATAAACAAAAAGACAAACCCTAAATGCCATGTGGGTTGGATCCTGGAAGAGAAAAAGAATATTAGGGGAAAAAAGAGTGAAATTCCAGTGAAGTCTGGAGTTCAGTTAATAGCATTGTAGTTAATAGGAGCTAATGGTATAAAATAGTTAATAGCATTGCACCAGTGTTAATTTTGTAGTTTTGAAAAATGTACCATGTTCACATTGGGGGAAACTGGGTGAAAGATATACAGCAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTGAAAATACAAAAATTAGCCAGGTGTGGTGGCACACGCCTGTAGTCCCATCTACCCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCGGGAGGCTGAGGTTGCAGTTAGCCGAGATCGTGCCACTCCACTCTAGCCTGAGTGACAGAGTGAAACTATGTCTCAAAAAAAAAAAAAAAGATATATAGCAACCCTCTGTACTGTTTTTGTAACTTTTTCTGTAAATCTAAAGTTACTCCAAAGTAAAAAGGTTATTTTAACAAAAAGGCTAAGAACCTCTTCCCCAAATTCCTAAAGAACTTGGCTTGGTACTTAGCAGAGGCGATAGAAGCTTACCAGAACAATGTGTTGGGTTGAGTCCTGGCTAACGTATGAACCACAGGCTGAGTGACCCCAGACAAGTCACTCTTTCGAGTCTCTCTTATCCCGGCTGTAAAGTGGGAGCCGCGATGCCTCCCGCATCGGGAGGTTGTACATGTGAGGTGTGAAGACATGTAAAGTATCTGGCATGCAGCAGGCCTCATAGATGGGGGTGCGTGCTGCATCCCTCAAACAGCTCAGTAAACAGGGTGCACGCTACATCCCTCCATCACTCCTCAGTAAATGGGGGTGCACGCTACATCCCTCCATCACAGCTTGCTAAACGGGGGTGCACACTACATCCCTCGAACACAGCTTAGTAAACAGGGGTGCACGCTACATCCCTCCATCACAGCTTTCTCGCGGGCCTGCCCAGTGCTGGGCTTAGCCCATGGGGAGGAGGGAGGCAGCGCAGCCCCAGGAGCCTTCCTTCCCCACCCCAGCAGCTCTTGTCTTGTCTTGCTTTTAGGTGATGACAGAGGGTGGCCACAGCAAGGGGTTTGGCTTTGTGTGTTTTTCCTCCCCAGAAGAGGCGACAAAGGCCGTGACAGAGATGAACGGGCGCATCGTGGGCACCAAGCCACTCTACGTGGCACTGGCCCAGCGCAAAGAGGAGCGGAAGGCCATCTTGACCAACCAGTACATGCAGCGCCTCTCCACCATGCGGACCCTGAGCAACCCCCTCCTGGGCTCCTTTCAGCAGCCCTCCAGCTACTTCCTGCCTGCCATGCCCCAGGTGACGGCCTGCCCGCAACTCCCACCGCAGCCTTCCCCCCTGCCCCAGCAAGGCAGAGCATGAAGACTAGAGTTCTAGGGAAATGGAGGTTTCTAACTTGCTTCTGCCGAGGACTCATTAGGAAGTCTTTGTTTCCCTCTCTATAAAAGGGAGAGATAGTGTTAGTCAAATGGCATTTCCCAGTGAGAGAAGCTCGTGAATGTTGTGCTGAAAAAGACTCTTAATGATCCAGCAAGTTTGGGAAATGCTGCGTTAAGCAAGACCTACATTTTTCCTTCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTTCCCTTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCGTGGGGTCTCCATGTCACCCAGGCTGGTGAGCAATGGCGTGATCATGGCTCCTTCCTTCTTCCCTCCCTTCCTCCCTTCCTCCCTTCCTTCACGGGGTCTCCATGTCACCCAGGCTGGAGAGCAATGGCATGATCATGGCTCACTGCAGCCTTGAATTCCTGGGCTTGAGTGATCCTCCCACTGTAGCCTCCTGAGTAGGTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTGTTTATTTTAAAGAAGGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATTCTCCTGCCTTGGCCTCCCAAAGTGCTGGCATTACAGGAGTAAGCCACCGTCCCCCGCCCTACATTTTTTTAAAAATTAAATTTTTATTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCAGAATGGAGTGCAGTGACACCATCTTGGCTCGCTGCAAACTCTTCCTCCTGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCGGGTAGCTGGGATTACAGGTGCGTGCCACCACACTCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATGTGCCCTCCTTGACCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCATGATCGGCCCTAAATTTCTTTACTATCTACACTATTCTACCCTAAGATGCCAATGTCTACTGAGACTCTCCAAAACAGGCACAGATTATCCAGCATTTCCCCAGCTTAGATGGTCATTTTTTTGTGGGATGCCTGTTAACATCTCCCCTGGATGTTAATGTTCTGAGGAGCATGGTTTGGGAAAGGACCTCGTGGGACTTACAGGAAGTAGAAAGATGTCACCCATTAAAGGCCACCACGGTAAGAACATTCCTCTCCTTTTAGCAGTTGCTTAAGCTGCACAAGTTGGAGTAAGATGTCACCCTTTTTATCCAGGTCATTGGGTTAGCTGACAGGGAGCCAAGATTGAAATCTAAGATCTTTGCCCTGCAGGATTCAGGGCTAATGGACATCCTGAGATGGGAGGAAGGAGCTTTCATTACAGCCTTGTGGGTCTTGACTCACCAGTCCCTGCAGGAGCCAGTGGAGTTCCTGCCATGGTGTCCCTGAGGAGGTGTAGCTTCTCACCTACCCTGCCGCCAAGCCCCTCAGTCTGGGTCTTCTTTTCCCATGCAGCCTCCAGCCCAGGCTGCATACTATGGCTGTGGCCCAGTGACACCCACCCAGCCTGCCCCCAGGTGGACATCCCAGCCACCTAGACCTTCCTGTGAGTGACCCAGCCCCTTCCACTCTCAGACTGGCCTATTGGTGTGGGCCCCGTGAGGCAGTCATAACACAGGGATGAAACCTGGCTCTGCCACTTCCCAAGGTGGGTGACTTCACTTCTCTGAGCCTCAGTTTCCTCT | ATAGAAGGAAATGCTAATATGAAAATAAAGATGTCACTTTTTCCCCAATCCATGCAATTTCCCCCTAAATTGTATCCATGACCTACCTGAGGGGGATCCATGGACTCTCAGGTTAAGACCCCTCTACTGAAGGGTAGCAGAGTACAGTTTCAAAATTACTGATTAAGAGCGTGGGCTCACCAGGAGTTCAAGCCCAGCCGGGGCAACAGGATGAGACCTCATCTTTACAAAAAATGAACAAAATTAGGCATGGTGGTGCTTGTCTGCAGTCCCAGCTACTTGGGAGACTGAGTTGAGAGGATCACTTGAGGCTGAGAGGTTGAGGGTGCAGTTGAGCTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGTGAGATCCTGACTCAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAGGAAAAAAAGAAGATTTTAAAAATAACTCTAGTCCTTATGGGCTGTATGAGCCAGGCCGGTGTCTTCACCCTAAAAAAAGGTTAAAAACCCAGGGCCAGGTGTGGTGGCTCCTGCCTGTAATCCCTGCACCTTGGGAGACCTAGGTAGGAGGATCTCTTGAGACCAGCCTGGGCAACATAGTGATTGCTGATCTCTACAAACTTAAAAAAAAAAATTAGCTGGGTGTGGTGGCATGTACCTATAGCCCTAACTACTTGAGAGGCTGAGGCAGGAGGATCCCTGGAGCCCGGGAGTTTGAGGCTGCAGTGAGCTATGATCATACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCTCTTTAAAAAACAAACAAATAAACAAAAAGACAAACCCTAAATGCCATGTGGGTTGGATCCTGGAAGAGAAAAAGAATATTAGGGGAAAAAAGAGTGAAATTCCAGTGAAGTCTGGAGTTCAGTTAATAGCATTGTAGTTAATAGGAGCTAATGGTATAAAATAGTTAATAGCATTGCACCAGTGTTAATTTTGTAGTTTTGAAAAATGTACCATGTTCACATTGGGGGAAACTGGGTGAAAGATATACAGCAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTGAAAATACAAAAATTAGCCAGGTGTGGTGGCACACGCCTGTAGTCCCATCTACCCAGGAGGCTAAGGCAGGAGAATTGCTTGAACCCGGGAGGCTGAGGTTGCAGTTAGCCGAGATCGTGCCACTCCACTCTAGCCTGAGTGACAGAGTGAAACTATGTCTCAAAAAAAAAAAAAAAGATATATAGCAACCCTCTGTACTGTTTTTGTAACTTTTTCTGTAAATCTAAAGTTACTCCAAAGTAAAAAGGTTATTTTAACAAAAAGGCTAAGAACCTCTTCCCCAAATTCCTAAAGAACTTGGCTTGGTACTTAGCAGAGGCGATAGAAGCTTACCAGAACAATGTGTTGGGTTGAGTCCTGGCTAACGTATGAACCACAGGCTGAGTGACCCCAGACAAGTCACTCTTTCGAGTCTCTCTTATCCCGGCTGTAAAGTGGGAGCCGCGATGCCTCCCGCATCGGGAGGTTGTACATGTGAGGTGTGAAGACATGTAAAGTATCTGGCATGCAGCAGGCCTCATAGATGGGGGTGCGTGCTGCATCCCTCAAACAGCTCAGTAAACAGGGTGCACGCTACATCCCTCCATCACTCCTCAGTAAATGGGGGTGCACGCTACATCCCTCCATCACAGCTTGCTAAACGGGGGTGCACACTACATCCCTCGAACACAGCTTAGTAAACAGGGGTGCACGCTACATCCCTCCATCACAGCTTTCTCGCGGGCCTGCCCAGTGCTGGGCTTAGCCCATGGGGAGGAGGGAGGCAGCGCAGCCCCAGGAGCCTTCCTTCCCCACCCCAGCAGCTCTTGTCTTGTCTTGCTTTTAGGTGATGACAGAGGGTGGCCACAGCAAGGGGTTTGGCTTTGTGTGTTTTTCCTCCCCAGAAGAGGTGACAAAGGCCGTGACAGAGATGAACGGGCGCATCGTGGGCACCAAGCCACTCTACGTGGCACTGGCCCAGCGCAAAGAGGAGCGGAAGGCCATCTTGACCAACCAGTACATGCAGCGCCTCTCCACCATGCGGACCCTGAGCAACCCCCTCCTGGGCTCCTTTCAGCAGCCCTCCAGCTACTTCCTGCCTGCCATGCCCCAGGTGACGGCCTGCCCGCAACTCCCACCGCAGCCTTCCCCCCTGCCCCAGCAAGGCAGAGCATGAAGACTAGAGTTCTAGGGAAATGGAGGTTTCTAACTTGCTTCTGCCGAGGACTCATTAGGAAGTCTTTGTTTCCCTCTCTATAAAAGGGAGAGATAGTGTTAGTCAAATGGCATTTCCCAGTGAGAGAAGCTCGTGAATGTTGTGCTGAAAAAGACTCTTAATGATCCAGCAAGTTTGGGAAATGCTGCGTTAAGCAAGACCTACATTTTTCCTTCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTTCCCTTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCGTGGGGTCTCCATGTCACCCAGGCTGGTGAGCAATGGCGTGATCATGGCTCCTTCCTTCTTCCCTCCCTTCCTCCCTTCCTCCCTTCCTTCACGGGGTCTCCATGTCACCCAGGCTGGAGAGCAATGGCATGATCATGGCTCACTGCAGCCTTGAATTCCTGGGCTTGAGTGATCCTCCCACTGTAGCCTCCTGAGTAGGTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTGTTTATTTTAAAGAAGGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATTCTCCTGCCTTGGCCTCCCAAAGTGCTGGCATTACAGGAGTAAGCCACCGTCCCCCGCCCTACATTTTTTTAAAAATTAAATTTTTATTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCAGAATGGAGTGCAGTGACACCATCTTGGCTCGCTGCAAACTCTTCCTCCTGGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCGGGTAGCTGGGATTACAGGTGCGTGCCACCACACTCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATGTGCCCTCCTTGACCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCATGATCGGCCCTAAATTTCTTTACTATCTACACTATTCTACCCTAAGATGCCAATGTCTACTGAGACTCTCCAAAACAGGCACAGATTATCCAGCATTTCCCCAGCTTAGATGGTCATTTTTTTGTGGGATGCCTGTTAACATCTCCCCTGGATGTTAATGTTCTGAGGAGCATGGTTTGGGAAAGGACCTCGTGGGACTTACAGGAAGTAGAAAGATGTCACCCATTAAAGGCCACCACGGTAAGAACATTCCTCTCCTTTTAGCAGTTGCTTAAGCTGCACAAGTTGGAGTAAGATGTCACCCTTTTTATCCAGGTCATTGGGTTAGCTGACAGGGAGCCAAGATTGAAATCTAAGATCTTTGCCCTGCAGGATTCAGGGCTAATGGACATCCTGAGATGGGAGGAAGGAGCTTTCATTACAGCCTTGTGGGTCTTGACTCACCAGTCCCTGCAGGAGCCAGTGGAGTTCCTGCCATGGTGTCCCTGAGGAGGTGTAGCTTCTCACCTACCCTGCCGCCAAGCCCCTCAGTCTGGGTCTTCTTTTCCCATGCAGCCTCCAGCCCAGGCTGCATACTATGGCTGTGGCCCAGTGACACCCACCCAGCCTGCCCCCAGGTGGACATCCCAGCCACCTAGACCTTCCTGTGAGTGACCCAGCCCCTTCCACTCTCAGACTGGCCTATTGGTGTGGGCCCCGTGAGGCAGTCATAACACAGGGATGAAACCTGGCTCTGCCACTTCCCAAGGTGGGTGACTTCACTTCTCTGAGCCTCAGTTTCCTCT |
Task1_train_27882 | This variant affects the gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 3 | CCTCTTAATCCCACTATAAGAAATCAATAGTGCAAGTATGATATAACAAGTTTTAGGGCAATAAAAAGGAGCAGCAGGAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGT | CCTCTTAATCCCACTATAAGAAATCAATAGTGCAAGTATGATATAACAAGTTTTAGGGCAATAAAAAGGAGCAGCAGGAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCCCCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGT |
Task1_train_27883 | The gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Multiple congenital anomalies-hypotonia-seizures syndrome 3 | TTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGGTCTTGTTATGTTGCACAGGCTGGTCTCAAACTCCTGGCCTCAAGCGATTCTCCTGCCTCAGTCTCCTAAAGTGCTGGGATTATAGGTGTAAGCCGCTGCCTGCTGGCATATCTTAAAGCAAATCTTAGACATTGCATCAATTAACCTTTAAATACTTTAAGGATTTTTAAAAATGTAACCGTATCATTACCACTTCTGTTTTCCCCTGTGGTCTTAAAAATGTCTTTTTATAATTGGTTTGTTTAAATTGGGATAAACAAGGTTCTCACATTGCATTTGCTTTATACTAAGTTCCTCTCTTGGGTGGGCACAGTGGTGCACACCTGTAATCTCAGCACTTTGGGAGGCCAACACAGAAGGACCACTTGAGTCCAGGAGTTCGAAACCAGCCTGGACAACATTGTGAGGCTCCCCCTACCTATACAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCCACCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTCTGTTTTTAGTAGAGATGCGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAAAATAAATTGTTTTTAATTAGCTGGGGGTGGTGTTGCACGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAGGTCAAGGCTATAGTGAGCCATGATCATACTATTGCACTTCAGCATGGGCGACAGTGTGAGACCCTGTCACGAAAAAAAAAAAAGTTTCTTTTTCTTTAAAATTACTAGACTATTCTTAGAGCAGTTTTAGGTTTACAGAAAAACTGAGCACAAAGCACAGAGTTCCCATATACTCCCTGTCTCCACACCCAGAATGTCCCTTATTATAAATGTCTTGTCTTTGGTGTGGTACTCTTCAGTCTCTCTTCATCTGTAGCAGTGCCCATGCCTTTTTTTTTTTTTTTTAATGTCATTTATTTGTTGAAGAAACTGGGTCATTTGTTGTGTAGAATGTTCCACATTCTGGGTTTGTCCTTGTGCTAGTGTTTAACACACCCCTCCTCTCCTATATTTCTTGTGTGTTGGTGGTTAGATTTAGAAACCTGATTAGATTCATGTCCCACATTTTTGGCAAGAAAAATTCCCAGGTGGTTCTGTGAACTTCTTCTTGCGTCACATCAGGCACTTGGTGTCTGGTGCCCCAGTTGTAGTGATGTGAAGATTGATTAGCCATCTGCAGCACTCCTAACAACCTCTCTTGATCGCATCCTGGGATCACTGCCCTGGAAACATCCTCTCCCTTTTCTTAGCCCCTGCTTTCTTCCCTTGCCTGCCTGGCTTCTATGCTCCCAAGCCCATCTTCTAGGCACCCAGATTGAGGCTCCATGGCAAGCAGCAGGGACAGGGGCAGCAGGTAGCCTGACCCCAGGAAAGAGATGTGGGTGACCTTGCATGTCTCCAGGTTACATCCACTACCAGCCTGCCCAGGACCGGCTGCAACCCCACCTCCTGGAGATGCTGATTCAGCTGCCGGCCAACTCAGTCACCAAGGTTTCCATCCAGTTTGAGCGGGCGCTGCTGAAGTGGACCGAGTACACGCCAGATCCTAACCATGGCTTCTATGTCAGGTGGGCTCCACCCCCACAGGCCACCTCTCATCCCCCTGACCTACCCTTTCTGCTGCTTACCCCTTGATAGGGCAGCCAGATGGGAACACGGGCCATCTCTCTGCTTCTCTGTAGCCCATCTGTCCTCAGCGCCCTTGTGCCCAGCATGGTAGCAGCCAAGCCAGTGGACTGGGAAGAGAGTCCCCTCTTCAACAGCCTGTAAGTGTGACCACACTCACTGATAACACATCCTCAGCTGCCTGCTGGGCCTTAACACAGGTGACCAGGCTCCTGCAGGGGAGTTCAGGGTAGATGTTACATCTTCCAAAGAGATGTGTAGATTTAATTCAATCCTAATAAAAATCCTGGCAGTCTGTGGAATTTGTGAAGACTTTATAAAATGATTTTAAAGTGCTTCTAGAAGAATACTTTTACTTACAGCCTACATTTACTTCTTGATGCTCTTAAATATTTAATCAAGCACTTATCAAATGCCAAGTGCTTCTGAGAGCACTGAGTGTGCAAGATTAAACAAAACAGACTTGGCCCTGGCCTCCCTTTGCTTACAGTCTAGAAGGAAGATTCTGGTCTAGAGAGTAATGGGGTTAGAGGTTGGGTAGGAATTGATTTACTGGGTTATCTAGGAAGGCTTCATTTAGGAGGTGGCATTTAGGCTGAAACCAGGCTAAGAAAGAAGCAACCAAGCAAAGGCGGGGCCCCTTTCCTCCACCTCAACACCAGGCGTCTCTCTTTCTTTCCTTTCTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTATTTATTTTTTATTTTACTTTAAGTTCTGGGATACATGTGCAGAACATACAGGTTTGTTACATAGGTATATATGTGCCACGGTGGTTTGCCGTACCCATCAACCCATCATCTAGGTTTTAAGCCCCGCATGCATTAGGTATTTGTCCTAATGCTCTCCCTCCCCTTGCCCCCCGCCCGCCGCTCCCCTTTATCAGGTTTAGAGATTGAGCTATGCCTTCTGTTGAAAGGTTTTGAGCCTAAGAGAACATTGGAAACACTGTGTTGCATTGCCCAATACTGCCGGAATGAGGATGGGGTGAGATGGGGAGGAGCAGCCAGTCCTGTCTCACCGCTCTTCCCCTGACCCCAGGTTCCCAGTCTCTGATGGCTCTAACTACTTTGTGCGGCTCTACACGGAGCCGCTGCTGGTGAACCTGCCGACACCGGACTTCAGCATGCCCTACAACGTGATCTGCCTCACGTGCACTGTGGTGGCCGTGTGCTATGGCTCCTTCTACAATCTCCTCACCCGAACCTTCCACATCGAGGAGCCCCGCACAGGTGGCCTGGCCAAGCGGCTGGCCAACCTTATCCGGCGCGCCCGAGGTGTCCCCCCACTCTGATTCTTGCCCTTTCCAGCAGCTGCAGCTGCCGTTTCTCTCTGGGGAGGGGAGCCCAAGGGCTGTTTCTGCCACTTGCTCTCCTCAGAGTTGGCTTTTGAACCAAAGTGCCCTGGACCAGGTCAGGGCCTACAGCTGTGTTGTCCAGTACAGGAGCCACGAGCCAAATGTGGCATTTGAATTTGAATTAACTTAGAAATTCATTTCCTCACCTGTAGTGGCCACCTCTATATTGAGGTGCTCAATAAGCAAAAGTGGTCGGTGGCTGCTGTATTGGACAGCACAGAAAAAGATTTCCATCACCACAGAAAGGTCGGCTGGCAGCACTGGCCAAGGTGATGGGGTGTGCTACACAGTGTATGTCACTGTGTAGTGGATGGAGTTTACTGTTTGTGGAATAAAAACGGCTGTTTCCGTGGTTCTTTGCCTCTTGTCCTTGAGTCCTGGGAAGAGCTGGGGACTGGGGATTGTTTGCTGAGTGCCTGAACAGGACCTCCTACCCTATGCCTGCAACCCCCTCCACAAAAAACAAAAAACCCTACCTCCT | TTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGGTCTTGTTATGTTGCACAGGCTGGTCTCAAACTCCTGGCCTCAAGCGATTCTCCTGCCTCAGTCTCCTAAAGTGCTGGGATTATAGGTGTAAGCCGCTGCCTGCTGGCATATCTTAAAGCAAATCTTAGACATTGCATCAATTAACCTTTAAATACTTTAAGGATTTTTAAAAATGTAACCGTATCATTACCACTTCTGTTTTCCCCTGTGGTCTTAAAAATGTCTTTTTATAATTGGTTTGTTTAAATTGGGATAAACAAGGTTCTCACATTGCATTTGCTTTATACTAAGTTCCTCTCTTGGGTGGGCACAGTGGTGCACACCTGTAATCTCAGCACTTTGGGAGGCCAACACAGAAGGACCACTTGAGTCCAGGAGTTCGAAACCAGCCTGGACAACATTGTGAGGCTCCCCCTACCTATACAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCCACCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTCTGTTTTTAGTAGAGATGCGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAAAATAAATTGTTTTTAATTAGCTGGGGGTGGTGTTGCACGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCACTTGAACCCAGGAGGTCAAGGCTATAGTGAGCCATGATCATACTATTGCACTTCAGCATGGGCGACAGTGTGAGACCCTGTCACGAAAAAAAAAAAAGTTTCTTTTTCTTTAAAATTACTAGACTATTCTTAGAGCAGTTTTAGGTTTACAGAAAAACTGAGCACAAAGCACAGAGTTCCCATATACTCCCTGTCTCCACACCCAGAATGTCCCTTATTATAAATGTCTTGTCTTTGGTGTGGTACTCTTCAGTCTCTCTTCATCTGTAGCAGTGCCCATGCCTTTTTTTTTTTTTTTTAATGTCATTTATTTGTTGAAGAAACTGGGTCATTTGTTGTGTAGAATGTTCCACATTCTGGGTTTGTCCTTGTGCTAGTGTTTAACACACCCCTCCTCTCCTATATTTCTTGTGTGTTGGTGGTTAGATTTAGAAACCTGATTAGATTCATGTCCCACATTTTTGGCAAGAAAAATTCCCAGGTGGTTCTGTGAACTTCTTCTTGCGTCACATCAGGCACTTGGTGTCTGGTGCCCCAGTTGTAGTGATGTGAAGATTGATTAGCCATCTGCAGCACTCCTAACAACCTCTCTTGATCGCATCCTGGGATCACTGCCCTGGAAACATCCTCTCCCTTTTCTTAGCCCCTGCTTTCTTCCCTTGCCTGCCTGGCTTCTATGCTCCCAAGCCCATCTTCTAGGCACCCAGATTGAGGCTCCATGGCAAGCAGCAGGGACAGGGGCAGCAGGTAGCCTGACCCCAGGAAAGAGATGTGGGTGACCTTGCATGTCTCCAGGTTACATCCACTACCAGCCTGCCCAGGACCGGCTGCAACCCCACCTCCTGGAGATGCTGATTCAGCTGCCGGCCAACTCAGTCACCAAGGTTTCCATCCAGTTTGAGTGGGCGCTGCTGAAGTGGACCGAGTACACGCCAGATCCTAACCATGGCTTCTATGTCAGGTGGGCTCCACCCCCACAGGCCACCTCTCATCCCCCTGACCTACCCTTTCTGCTGCTTACCCCTTGATAGGGCAGCCAGATGGGAACACGGGCCATCTCTCTGCTTCTCTGTAGCCCATCTGTCCTCAGCGCCCTTGTGCCCAGCATGGTAGCAGCCAAGCCAGTGGACTGGGAAGAGAGTCCCCTCTTCAACAGCCTGTAAGTGTGACCACACTCACTGATAACACATCCTCAGCTGCCTGCTGGGCCTTAACACAGGTGACCAGGCTCCTGCAGGGGAGTTCAGGGTAGATGTTACATCTTCCAAAGAGATGTGTAGATTTAATTCAATCCTAATAAAAATCCTGGCAGTCTGTGGAATTTGTGAAGACTTTATAAAATGATTTTAAAGTGCTTCTAGAAGAATACTTTTACTTACAGCCTACATTTACTTCTTGATGCTCTTAAATATTTAATCAAGCACTTATCAAATGCCAAGTGCTTCTGAGAGCACTGAGTGTGCAAGATTAAACAAAACAGACTTGGCCCTGGCCTCCCTTTGCTTACAGTCTAGAAGGAAGATTCTGGTCTAGAGAGTAATGGGGTTAGAGGTTGGGTAGGAATTGATTTACTGGGTTATCTAGGAAGGCTTCATTTAGGAGGTGGCATTTAGGCTGAAACCAGGCTAAGAAAGAAGCAACCAAGCAAAGGCGGGGCCCCTTTCCTCCACCTCAACACCAGGCGTCTCTCTTTCTTTCCTTTCTCTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTATTTATTTTTTATTTTACTTTAAGTTCTGGGATACATGTGCAGAACATACAGGTTTGTTACATAGGTATATATGTGCCACGGTGGTTTGCCGTACCCATCAACCCATCATCTAGGTTTTAAGCCCCGCATGCATTAGGTATTTGTCCTAATGCTCTCCCTCCCCTTGCCCCCCGCCCGCCGCTCCCCTTTATCAGGTTTAGAGATTGAGCTATGCCTTCTGTTGAAAGGTTTTGAGCCTAAGAGAACATTGGAAACACTGTGTTGCATTGCCCAATACTGCCGGAATGAGGATGGGGTGAGATGGGGAGGAGCAGCCAGTCCTGTCTCACCGCTCTTCCCCTGACCCCAGGTTCCCAGTCTCTGATGGCTCTAACTACTTTGTGCGGCTCTACACGGAGCCGCTGCTGGTGAACCTGCCGACACCGGACTTCAGCATGCCCTACAACGTGATCTGCCTCACGTGCACTGTGGTGGCCGTGTGCTATGGCTCCTTCTACAATCTCCTCACCCGAACCTTCCACATCGAGGAGCCCCGCACAGGTGGCCTGGCCAAGCGGCTGGCCAACCTTATCCGGCGCGCCCGAGGTGTCCCCCCACTCTGATTCTTGCCCTTTCCAGCAGCTGCAGCTGCCGTTTCTCTCTGGGGAGGGGAGCCCAAGGGCTGTTTCTGCCACTTGCTCTCCTCAGAGTTGGCTTTTGAACCAAAGTGCCCTGGACCAGGTCAGGGCCTACAGCTGTGTTGTCCAGTACAGGAGCCACGAGCCAAATGTGGCATTTGAATTTGAATTAACTTAGAAATTCATTTCCTCACCTGTAGTGGCCACCTCTATATTGAGGTGCTCAATAAGCAAAAGTGGTCGGTGGCTGCTGTATTGGACAGCACAGAAAAAGATTTCCATCACCACAGAAAGGTCGGCTGGCAGCACTGGCCAAGGTGATGGGGTGTGCTACACAGTGTATGTCACTGTGTAGTGGATGGAGTTTACTGTTTGTGGAATAAAAACGGCTGTTTCCGTGGTTCTTTGCCTCTTGTCCTTGAGTCCTGGGAAGAGCTGGGGACTGGGGATTGTTTGCTGAGTGCCTGAACAGGACCTCCTACCCTATGCCTGCAACCCCCTCCACAAAAAACAAAAAACCCTACCTCCT |
Task1_train_27884 | With a mutation on Chromosome 20 in gene TNNC2 (troponin C2, fast skeletal type), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital myopathy 15 | GTACCAAGGGCTTGAAAATGCACCCCAGGTCCATATCAGGAATACATTGCCCAGTGTGGCTGCAGCCCTGTGAGGACTATGGGAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAAGGAATTTGGATCTCATTGTAGAAGCAGTGAGGAGCCTTGAACTACTTTCAACAGGGCAGTGGCCAAGTCAGATATTTTAGCTCGCTGCTGCTGATGGCCCTCTGTAGAGCGCACTGGCAGAGACCAGGTGGAGGCAGGGATCTGGGGTCAAATGATGAGATCAGAATCTCCTTAGTGGGTGCCTCCACCCTCCCCTACAACCACCAGTACAATTTGAGGAGTAAGCACTTGGAAGAACAGAAGAAGTAAAAGGTCGAGCAGAAACAATGCTGCCTGGCATGGATGGGCACCTACTTCCCCTCTCCCCAGCTAGGGAGCCTGCAGAAGGTGGCAGCTACGACAACATCTAAGACGCAAACGTTCCAGAAAAGGATGGTGGGGAAGTGAGGGAGCTTCCCGGCTCCCCAGGGTTCTAGCCTCTCCCACCCCCTCACCCTACCTGCCGTCTCAGGACCCCTCCGCAGTCCGCCGGCTCACCCTGACTCAACTCCAAGCCCCTGCAGCCTCCTGGAGCCACCACTGCCTGTCCGCCAAGCTGTGCACGCCCAGCGCCAGCTGTCAGGAGCCGGCTGCAAACCTGCAGAGCGAGTCAGCGCCATCGAGCACTCGCAGCCGCCGCCTCGGGCTCCAGGGCCCAGCTCCCTTCCACATCCCGCCGCTCAGACAGCCTCTCCCGGGGATCCCCAAGGGTGCTCCGGGTGGTGCCAGCCGGGATGGCGCCCTGGACCACAGCCCTTGCGACCTGCTGTCCTCGGCTCTCCCCTCATTCAGGCCACGAGTTTTGGAACATTTGCTTTTATTCCTTCCAGACAAAGACCCACAAGGGGTCGCGCCTCCCTGGTGGGGACCCGGCAGGGCGGAGTCTCCCACACCCTAGGGACACGCGATCTTGGTAGAGGCGACTGTCCACTCCTTACTGCACGCCCTCCATCATCTTCAGGAACTCTGAGGGAAAGGAGAGGGAGAGGGTCAGGGGTCCCACTGGGGACGCAGAGGCCAGGCCAGGGCTCCAGCCACACAGAGGGGATGACTTTTTGTTTTTGTTTTTGTTGAGACAGAGTCTCACTCTGTTGCCAAGGTCGCCAAGGTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCATAACTCATTGCAGCCTTGATCTCCTAGGCTCAAGCGATCCTCTTACCTCAGCCCCCGGAGCAACTGGGACCACAGGTGTGCCACCACACCTGCCTTTTTATTTTATTTTATTTTTTGTAAAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCTTGGCCTCAAGCAATCCTCCCACCTCATCCTCCCAAAGTTCTAGGATTTTACAGTCCTGAGCCACCACGCCCCCCTGCCTGGTCATTAATTGATAAACTGCACAGAGTCGTGGAGCGCTTCTATACCTGCCCCCAGGAGACTATGGGGAACTTGGTGAAGTTACGCCCAGCCCAGCCCACAAGGCCAAGGACACTGCACCGGAGCCAGGCACCAGTGCCCGCCGTCCTCTGGGGCTCCCACCCGCTCTTCCCAAGCTCCCGTTGGCCCTCACCGTCGAAGTCAATGCGGCCGTCGTTGTTCTTGTCGCCGTCTTTCATCAGAGATTCGATCTCCTCGTCCGTCACGTGCTCCCCGGAGGCCCTGAAAATCTCAGCCAGCTCCTCCGGGTCGATGTAGCCGTCTGCATTCCTTCAGGTCCGAGGGACAGGGCAGGGCTCAGGGCCGGGGCGAGCTGCCCTGGCCACCACACTCGACGCCCCGCTTCCGCACTCCCAACACGGGGAAGCTTCCAGCGCTGCCGGCCGGGTTCTGACTGCTAAGCCCCTCCCTCGGCTCCCGGGCCCCCAGCGCACCTGTCGAAGATGCGGAAGCACTCGGCCAGCTCCTCCTCGCTCTTCCCTTTCGCGTCCTCTTTCATCTGGCGCACCATCATGACCAAGAACTCCTCGAAGTCGATGGTGCCGCTGCCTGCGGGCAGCAGGTGGCAGACTGAGCCTGAGCCCAGCCGCTGCCGCCTCTCCCCACCATCCCCTGCCTCCGAGGGACACCCGCTCACCGTCCTCATCCACCTCCTCGATGATGGCGTCCAGCTCCTCCTTGGTGGGTGTCTGGCCCAGCATCCTCATCACCGTGCCCAACTCCTTGACGCTGATGTCCCCACCACCATCAGCATCAAACATGTCAAAGGCAGCCTTGAACTCTGCGAGGGAGGGCAGAGGGCAGAGGTGAGGCCTGCTGGACTGTCAGCCTCACACCTACCCCCCCCCAACCCCCACCCTGCCTAGAGGCCAACATGTCCCCAGCATACATCCACCCAGCCCCCAGCCTGCCGCGCCTCACTCACCAGCGATCATCTCTTCGCTGAGGTAGGACCTGGCCTCAGCCTGCTGGTCCGTCTGCAGGAGACACAGAGAAAGTCTGAGCTGAAGAGGCAGCCCCAGAGCAGTTCCTCACCTCAAAGCCATTCTTCCCAACCCCCACTCTGTCAGCGCCCTTGGTTCTCCAGAAGAACAACTTCAAACTTGTCACATAATTGTGTGCCCGCACAGCACCCAATCACAGTTTTGTTTTGTCTCGTTCTGTCACACATGCTGGAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCGTCCCACTTCAGCCTCCTGAGTAGCTGGGACTATAGCATACACCACGCCTAATTTTTAAAATTTTTTGTAGAGATGGGGTCCCACTATATTACCCAGGCTGGTTTTGAACTCCTGGGTTCAAGTGATCCTGCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCACTGTGCCCAGCTTCTGACCCCAGTTTTTGTTTTTGCTTTTTGTTTTTGTGACAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCAACACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTCACATCAGGTGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTGACCCCAGTTTTTTTTGTTTGTTTGTTTTGTTTTGTTTTGAGACGGAGTTTTGCTCTTGTTGCCTAGGCTGCAGTGTAATGGCACGATCTCAGCTCGCCACAACCGCAACCCCCACCTCCGGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACAACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGAGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACCCCCTACCTTAGGCGATCTGCCTGCCTCAGCTTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCGCGCGCAGCCTGTGACCCCAGTTTTGAGCAAAAGAGAGGAGACAACAAGTTAAGCCCAAGGCCTTCTCACTTGTCAATTGAAGGCCAAGTCGGGAACCCCCCCCACCCCCCAGTGACCTTAGGCACGTCAATTAGCGTGCCTTCATCTTTTCTCTGTAGCTTTTCAGGGATGAGATATCAGGGGTGTGAAAGGGCTTTGTAAAGGGCTAGCACCATTCCAGCACTATTTTCCAGTTTTCTGCAGCTCCTAATGGTGCCCGGTACTTTAATAGTTGCTCAATAAAATGTTTGTTCTCAAATAAATAATAATGCAACACAAAGTTATTGAGTACTTGCTGCATGTCAGGCCACAGATCAGGCACTGGAACCACAAAGAAGAGATAAAAGACACATCATCCCGCCCCTCAGAGAACTGGCAGAGTCGGAGGCTGTCAGCTTCCTTCTTAGGATTCAGTCATTGGAGAAAAGGCCCCTCATGGGGGGCCGAATGTGATGGAGGCCTTGACA | GTACCAAGGGCTTGAAAATGCACCCCAGGTCCATATCAGGAATACATTGCCCAGTGTGGCTGCAGCCCTGTGAGGACTATGGGAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAAGGAATTTGGATCTCATTGTAGAAGCAGTGAGGAGCCTTGAACTACTTTCAACAGGGCAGTGGCCAAGTCAGATATTTTAGCTCGCTGCTGCTGATGGCCCTCTGTAGAGCGCACTGGCAGAGACCAGGTGGAGGCAGGGATCTGGGGTCAAATGATGAGATCAGAATCTCCTTAGTGGGTGCCTCCACCCTCCCCTACAACCACCAGTACAATTTGAGGAGTAAGCACTTGGAAGAACAGAAGAAGTAAAAGGTCGAGCAGAAACAATGCTGCCTGGCATGGATGGGCACCTACTTCCCCTCTCCCCAGCTAGGGAGCCTGCAGAAGGTGGCAGCTACGACAACATCTAAGACGCAAACGTTCCAGAAAAGGATGGTGGGGAAGTGAGGGAGCTTCCCGGCTCCCCAGGGTTCTAGCCTCTCCCACCCCCTCACCCTACCTGCCGTCTCAGGACCCCTCCGCAGTCCGCCGGCTCACCCTGACTCAACTCCAAGCCCCTGCAGCCTCCTGGAGCCACCACTGCCTGTCCGCCAAGCTGTGCACGCCCAGCGCCAGCTGTCAGGAGCCGGCTGCAAACCTGCAGAGCGAGTCAGCGCCATCGAGCACTCGCAGCCGCCGCCTCGGGCTCCAGGGCCCAGCTCCCTTCCACATCCCGCCGCTCAGACAGCCTCTCCCGGGGATCCCCAAGGGTGCTCCGGGTGGTGCCAGCCGGGATGGCGCCCTGGACCACAGCCCTTGCGACCTGCTGTCCTCGGCTCTCCCCTCATTCAGGCCACGAGTTTTGGAACATTTGCTTTTATTCCTTCCAGACAAAGACCCACAAGGGGTCGCGCCTCCCTGGTGGGGACCCGGCAGGGCGGAGTCTCCCACACCCTAGGGACACGCGATCTTGGTAGAGGCGACTGTCCACTCCTTACTGCACGCCCTCCATCATCTTCAGGAACTCTGAGGGAAAGGAGAGGGAGAGGGTCAGGGGTCCCACTGGGGACGCAGAGGCCAGGCCAGGGCTCCAGCCACACAGAGGGGATGACTTTTTGTTTTTGTTTTTGTTGAGACAGAGTCTCACTCTGTTGCCAAGGTCGCCAAGGTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCATAACTCATTGCAGCCTTGATCTCCTAGGCTCAAGCGATCCTCTTACCTCAGCCCCCGGAGCAACTGGGACCACAGGTGTGCCACCACACCTGCCTTTTTATTTTATTTTATTTTTTGTAAAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCTTGGCCTCAAGCAATCCTCCCACCTCATCCTCCCAAAGTTCTAGGATTTTACAGTCCTGAGCCACCACGCCCCCCTGCCTGGTCATTAATTGATAAACTGCACAGAGTCGTGGAGCGCTTCTATACCTGCCCCCAGGAGACTATGGGGAACTTGGTGAAGTTACGCCCAGCCCAGCCCACAAGGCCAAGGACACTGCACCGGAGCCAGGCACCAGTGCCCGCCGTCCTCTGGGGCTCCCACCCGCTCTTCCCAAGCTCCCGTTGGCCCTCACCGTCGAAGTCAATGCGGCCGTCGTTGTTCTTGTCGCCGTCTTTCATCAGAGATTCGATCTCCTCGTCCGTCACGTGCTCCCCGGAGGCCCTGAAAATCTCAGCCAGCTCCTCCGGGTCGATGTAGCCGTCTGCATTCCTTCAGGTCCGAGGGACAGGGCAGGGCTCAGGGCCGGGGCGAGCTGCCCTGGCCACCACACTCGACGCCCCGCTTCCGCACTCCCAACACGGGGAAGCTTCCAGCGCTGCCGGCCGGGTTCTGACTGCTAAGCCCCTCCCTCGGCTCCCGGGCCCCCAGCGCACCTGTCGAAGATGCGGAAGCACTCGGCCAGCTCCTCCTCGCTCTTCCCTTTCGCGTCCTCTTTCATCTGGCGCACCATGATGACCAAGAACTCCTCGAAGTCGATGGTGCCGCTGCCTGCGGGCAGCAGGTGGCAGACTGAGCCTGAGCCCAGCCGCTGCCGCCTCTCCCCACCATCCCCTGCCTCCGAGGGACACCCGCTCACCGTCCTCATCCACCTCCTCGATGATGGCGTCCAGCTCCTCCTTGGTGGGTGTCTGGCCCAGCATCCTCATCACCGTGCCCAACTCCTTGACGCTGATGTCCCCACCACCATCAGCATCAAACATGTCAAAGGCAGCCTTGAACTCTGCGAGGGAGGGCAGAGGGCAGAGGTGAGGCCTGCTGGACTGTCAGCCTCACACCTACCCCCCCCCAACCCCCACCCTGCCTAGAGGCCAACATGTCCCCAGCATACATCCACCCAGCCCCCAGCCTGCCGCGCCTCACTCACCAGCGATCATCTCTTCGCTGAGGTAGGACCTGGCCTCAGCCTGCTGGTCCGTCTGCAGGAGACACAGAGAAAGTCTGAGCTGAAGAGGCAGCCCCAGAGCAGTTCCTCACCTCAAAGCCATTCTTCCCAACCCCCACTCTGTCAGCGCCCTTGGTTCTCCAGAAGAACAACTTCAAACTTGTCACATAATTGTGTGCCCGCACAGCACCCAATCACAGTTTTGTTTTGTCTCGTTCTGTCACACATGCTGGAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCGTCCCACTTCAGCCTCCTGAGTAGCTGGGACTATAGCATACACCACGCCTAATTTTTAAAATTTTTTGTAGAGATGGGGTCCCACTATATTACCCAGGCTGGTTTTGAACTCCTGGGTTCAAGTGATCCTGCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCACTGTGCCCAGCTTCTGACCCCAGTTTTTGTTTTTGCTTTTTGTTTTTGTGACAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCAACACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTCACATCAGGTGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTGACCCCAGTTTTTTTTGTTTGTTTGTTTTGTTTTGTTTTGAGACGGAGTTTTGCTCTTGTTGCCTAGGCTGCAGTGTAATGGCACGATCTCAGCTCGCCACAACCGCAACCCCCACCTCCGGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACAACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGAGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACCCCCTACCTTAGGCGATCTGCCTGCCTCAGCTTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCGCGCGCAGCCTGTGACCCCAGTTTTGAGCAAAAGAGAGGAGACAACAAGTTAAGCCCAAGGCCTTCTCACTTGTCAATTGAAGGCCAAGTCGGGAACCCCCCCCACCCCCCAGTGACCTTAGGCACGTCAATTAGCGTGCCTTCATCTTTTCTCTGTAGCTTTTCAGGGATGAGATATCAGGGGTGTGAAAGGGCTTTGTAAAGGGCTAGCACCATTCCAGCACTATTTTCCAGTTTTCTGCAGCTCCTAATGGTGCCCGGTACTTTAATAGTTGCTCAATAAAATGTTTGTTCTCAAATAAATAATAATGCAACACAAAGTTATTGAGTACTTGCTGCATGTCAGGCCACAGATCAGGCACTGGAACCACAAAGAAGAGATAAAAGACACATCATCCCGCCCCTCAGAGAACTGGCAGAGTCGGAGGCTGTCAGCTTCCTTCTTAGGATTCAGTCATTGGAGAAAAGGCCCCTCATGGGGGGCCGAATGTGATGGAGGCCTTGACA |
Task1_train_27885 | A variant on Chromosome 20 in gene TNNC2 (troponin C2, fast skeletal type) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital myopathy 15 | CACTGGCAGAGACCAGGTGGAGGCAGGGATCTGGGGTCAAATGATGAGATCAGAATCTCCTTAGTGGGTGCCTCCACCCTCCCCTACAACCACCAGTACAATTTGAGGAGTAAGCACTTGGAAGAACAGAAGAAGTAAAAGGTCGAGCAGAAACAATGCTGCCTGGCATGGATGGGCACCTACTTCCCCTCTCCCCAGCTAGGGAGCCTGCAGAAGGTGGCAGCTACGACAACATCTAAGACGCAAACGTTCCAGAAAAGGATGGTGGGGAAGTGAGGGAGCTTCCCGGCTCCCCAGGGTTCTAGCCTCTCCCACCCCCTCACCCTACCTGCCGTCTCAGGACCCCTCCGCAGTCCGCCGGCTCACCCTGACTCAACTCCAAGCCCCTGCAGCCTCCTGGAGCCACCACTGCCTGTCCGCCAAGCTGTGCACGCCCAGCGCCAGCTGTCAGGAGCCGGCTGCAAACCTGCAGAGCGAGTCAGCGCCATCGAGCACTCGCAGCCGCCGCCTCGGGCTCCAGGGCCCAGCTCCCTTCCACATCCCGCCGCTCAGACAGCCTCTCCCGGGGATCCCCAAGGGTGCTCCGGGTGGTGCCAGCCGGGATGGCGCCCTGGACCACAGCCCTTGCGACCTGCTGTCCTCGGCTCTCCCCTCATTCAGGCCACGAGTTTTGGAACATTTGCTTTTATTCCTTCCAGACAAAGACCCACAAGGGGTCGCGCCTCCCTGGTGGGGACCCGGCAGGGCGGAGTCTCCCACACCCTAGGGACACGCGATCTTGGTAGAGGCGACTGTCCACTCCTTACTGCACGCCCTCCATCATCTTCAGGAACTCTGAGGGAAAGGAGAGGGAGAGGGTCAGGGGTCCCACTGGGGACGCAGAGGCCAGGCCAGGGCTCCAGCCACACAGAGGGGATGACTTTTTGTTTTTGTTTTTGTTGAGACAGAGTCTCACTCTGTTGCCAAGGTCGCCAAGGTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCATAACTCATTGCAGCCTTGATCTCCTAGGCTCAAGCGATCCTCTTACCTCAGCCCCCGGAGCAACTGGGACCACAGGTGTGCCACCACACCTGCCTTTTTATTTTATTTTATTTTTTGTAAAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCTTGGCCTCAAGCAATCCTCCCACCTCATCCTCCCAAAGTTCTAGGATTTTACAGTCCTGAGCCACCACGCCCCCCTGCCTGGTCATTAATTGATAAACTGCACAGAGTCGTGGAGCGCTTCTATACCTGCCCCCAGGAGACTATGGGGAACTTGGTGAAGTTACGCCCAGCCCAGCCCACAAGGCCAAGGACACTGCACCGGAGCCAGGCACCAGTGCCCGCCGTCCTCTGGGGCTCCCACCCGCTCTTCCCAAGCTCCCGTTGGCCCTCACCGTCGAAGTCAATGCGGCCGTCGTTGTTCTTGTCGCCGTCTTTCATCAGAGATTCGATCTCCTCGTCCGTCACGTGCTCCCCGGAGGCCCTGAAAATCTCAGCCAGCTCCTCCGGGTCGATGTAGCCGTCTGCATTCCTTCAGGTCCGAGGGACAGGGCAGGGCTCAGGGCCGGGGCGAGCTGCCCTGGCCACCACACTCGACGCCCCGCTTCCGCACTCCCAACACGGGGAAGCTTCCAGCGCTGCCGGCCGGGTTCTGACTGCTAAGCCCCTCCCTCGGCTCCCGGGCCCCCAGCGCACCTGTCGAAGATGCGGAAGCACTCGGCCAGCTCCTCCTCGCTCTTCCCTTTCGCGTCCTCTTTCATCTGGCGCACCATCATGACCAAGAACTCCTCGAAGTCGATGGTGCCGCTGCCTGCGGGCAGCAGGTGGCAGACTGAGCCTGAGCCCAGCCGCTGCCGCCTCTCCCCACCATCCCCTGCCTCCGAGGGACACCCGCTCACCGTCCTCATCCACCTCCTCGATGATGGCGTCCAGCTCCTCCTTGGTGGGTGTCTGGCCCAGCATCCTCATCACCGTGCCCAACTCCTTGACGCTGATGTCCCCACCACCATCAGCATCAAACATGTCAAAGGCAGCCTTGAACTCTGCGAGGGAGGGCAGAGGGCAGAGGTGAGGCCTGCTGGACTGTCAGCCTCACACCTACCCCCCCCCAACCCCCACCCTGCCTAGAGGCCAACATGTCCCCAGCATACATCCACCCAGCCCCCAGCCTGCCGCGCCTCACTCACCAGCGATCATCTCTTCGCTGAGGTAGGACCTGGCCTCAGCCTGCTGGTCCGTCTGCAGGAGACACAGAGAAAGTCTGAGCTGAAGAGGCAGCCCCAGAGCAGTTCCTCACCTCAAAGCCATTCTTCCCAACCCCCACTCTGTCAGCGCCCTTGGTTCTCCAGAAGAACAACTTCAAACTTGTCACATAATTGTGTGCCCGCACAGCACCCAATCACAGTTTTGTTTTGTCTCGTTCTGTCACACATGCTGGAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCGTCCCACTTCAGCCTCCTGAGTAGCTGGGACTATAGCATACACCACGCCTAATTTTTAAAATTTTTTGTAGAGATGGGGTCCCACTATATTACCCAGGCTGGTTTTGAACTCCTGGGTTCAAGTGATCCTGCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCACTGTGCCCAGCTTCTGACCCCAGTTTTTGTTTTTGCTTTTTGTTTTTGTGACAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCAACACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTCACATCAGGTGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTGACCCCAGTTTTTTTTGTTTGTTTGTTTTGTTTTGTTTTGAGACGGAGTTTTGCTCTTGTTGCCTAGGCTGCAGTGTAATGGCACGATCTCAGCTCGCCACAACCGCAACCCCCACCTCCGGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACAACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGAGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACCCCCTACCTTAGGCGATCTGCCTGCCTCAGCTTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCGCGCGCAGCCTGTGACCCCAGTTTTGAGCAAAAGAGAGGAGACAACAAGTTAAGCCCAAGGCCTTCTCACTTGTCAATTGAAGGCCAAGTCGGGAACCCCCCCCACCCCCCAGTGACCTTAGGCACGTCAATTAGCGTGCCTTCATCTTTTCTCTGTAGCTTTTCAGGGATGAGATATCAGGGGTGTGAAAGGGCTTTGTAAAGGGCTAGCACCATTCCAGCACTATTTTCCAGTTTTCTGCAGCTCCTAATGGTGCCCGGTACTTTAATAGTTGCTCAATAAAATGTTTGTTCTCAAATAAATAATAATGCAACACAAAGTTATTGAGTACTTGCTGCATGTCAGGCCACAGATCAGGCACTGGAACCACAAAGAAGAGATAAAAGACACATCATCCCGCCCCTCAGAGAACTGGCAGAGTCGGAGGCTGTCAGCTTCCTTCTTAGGATTCAGTCATTGGAGAAAAGGCCCCTCATGGGGGGCCGAATGTGATGGAGGCCTTGACATGAAAGTGAGATTTCTGCAGGGGTTTCCACGTCATATCCAAGCCAGGCCATCTGGGTCAGAGGCTTTGGATTGAGGCTGGCAGTGAGGACAGGGTGAGGCTTCCAAGGAGCTCTTCAGCCAGCTGGCCACCAGTGCTCCTCCTTCTCCCCCTCCTTCCTCTCCTCCTCTTTCCCTATGCCAGGAGGGCAGGCTATTTTTAGTCAGGCATGGGCAACAGCAGCTGG | CACTGGCAGAGACCAGGTGGAGGCAGGGATCTGGGGTCAAATGATGAGATCAGAATCTCCTTAGTGGGTGCCTCCACCCTCCCCTACAACCACCAGTACAATTTGAGGAGTAAGCACTTGGAAGAACAGAAGAAGTAAAAGGTCGAGCAGAAACAATGCTGCCTGGCATGGATGGGCACCTACTTCCCCTCTCCCCAGCTAGGGAGCCTGCAGAAGGTGGCAGCTACGACAACATCTAAGACGCAAACGTTCCAGAAAAGGATGGTGGGGAAGTGAGGGAGCTTCCCGGCTCCCCAGGGTTCTAGCCTCTCCCACCCCCTCACCCTACCTGCCGTCTCAGGACCCCTCCGCAGTCCGCCGGCTCACCCTGACTCAACTCCAAGCCCCTGCAGCCTCCTGGAGCCACCACTGCCTGTCCGCCAAGCTGTGCACGCCCAGCGCCAGCTGTCAGGAGCCGGCTGCAAACCTGCAGAGCGAGTCAGCGCCATCGAGCACTCGCAGCCGCCGCCTCGGGCTCCAGGGCCCAGCTCCCTTCCACATCCCGCCGCTCAGACAGCCTCTCCCGGGGATCCCCAAGGGTGCTCCGGGTGGTGCCAGCCGGGATGGCGCCCTGGACCACAGCCCTTGCGACCTGCTGTCCTCGGCTCTCCCCTCATTCAGGCCACGAGTTTTGGAACATTTGCTTTTATTCCTTCCAGACAAAGACCCACAAGGGGTCGCGCCTCCCTGGTGGGGACCCGGCAGGGCGGAGTCTCCCACACCCTAGGGACACGCGATCTTGGTAGAGGCGACTGTCCACTCCTTACTGCACGCCCTCCATCATCTTCAGGAACTCTGAGGGAAAGGAGAGGGAGAGGGTCAGGGGTCCCACTGGGGACGCAGAGGCCAGGCCAGGGCTCCAGCCACACAGAGGGGATGACTTTTTGTTTTTGTTTTTGTTGAGACAGAGTCTCACTCTGTTGCCAAGGTCGCCAAGGTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCATAACTCATTGCAGCCTTGATCTCCTAGGCTCAAGCGATCCTCTTACCTCAGCCCCCGGAGCAACTGGGACCACAGGTGTGCCACCACACCTGCCTTTTTATTTTATTTTATTTTTTGTAAAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGAACTCTTGGCCTCAAGCAATCCTCCCACCTCATCCTCCCAAAGTTCTAGGATTTTACAGTCCTGAGCCACCACGCCCCCCTGCCTGGTCATTAATTGATAAACTGCACAGAGTCGTGGAGCGCTTCTATACCTGCCCCCAGGAGACTATGGGGAACTTGGTGAAGTTACGCCCAGCCCAGCCCACAAGGCCAAGGACACTGCACCGGAGCCAGGCACCAGTGCCCGCCGTCCTCTGGGGCTCCCACCCGCTCTTCCCAAGCTCCCGTTGGCCCTCACCGTCGAAGTCAATGCGGCCGTCGTTGTTCTTGTCGCCGTCTTTCATCAGAGATTCGATCTCCTCGTCCGTCACGTGCTCCCCGGAGGCCCTGAAAATCTCAGCCAGCTCCTCCGGGTCGATGTAGCCGTCTGCATTCCTTCAGGTCCGAGGGACAGGGCAGGGCTCAGGGCCGGGGCGAGCTGCCCTGGCCACCACACTCGACGCCCCGCTTCCGCACTCCCAACACGGGGAAGCTTCCAGCGCTGCCGGCCGGGTTCTGACTGCTAAGCCCCTCCCTCGGCTCCCGGGCCCCCAGCGCACCTGTCGAAGATGCGGAAGCACTCGGCCAGCTCCTCCTCGCTCTTCCCTTTCGCGTCCTCTTTCATCTGGCGCACCATCATGACCAAGAACTCCTCGAAGTCGATGGTGCCGCTGCCTGCGGGCAGCAGGTGGCAGACTGAGCCTGAGCCCAGCCGCTGCCGCCTCTCCCCACCATCCCCTGCCTCCGAGGGACACCCGCTCACCGTCCTCATCCACCTCCTCGATGATGGCGTCCAGCTCCTCCTTGGTGGGTGTCTGGCCCAGCATCCTCATCACCGTGCCCAACTCCTTGACGCTGATGTACCCACCACCATCAGCATCAAACATGTCAAAGGCAGCCTTGAACTCTGCGAGGGAGGGCAGAGGGCAGAGGTGAGGCCTGCTGGACTGTCAGCCTCACACCTACCCCCCCCCAACCCCCACCCTGCCTAGAGGCCAACATGTCCCCAGCATACATCCACCCAGCCCCCAGCCTGCCGCGCCTCACTCACCAGCGATCATCTCTTCGCTGAGGTAGGACCTGGCCTCAGCCTGCTGGTCCGTCTGCAGGAGACACAGAGAAAGTCTGAGCTGAAGAGGCAGCCCCAGAGCAGTTCCTCACCTCAAAGCCATTCTTCCCAACCCCCACTCTGTCAGCGCCCTTGGTTCTCCAGAAGAACAACTTCAAACTTGTCACATAATTGTGTGCCCGCACAGCACCCAATCACAGTTTTGTTTTGTCTCGTTCTGTCACACATGCTGGAGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCGTCCCACTTCAGCCTCCTGAGTAGCTGGGACTATAGCATACACCACGCCTAATTTTTAAAATTTTTTGTAGAGATGGGGTCCCACTATATTACCCAGGCTGGTTTTGAACTCCTGGGTTCAAGTGATCCTGCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCTTGAGCCACTGTGCCCAGCTTCTGACCCCAGTTTTTGTTTTTGCTTTTTGTTTTTGTGACAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCAACACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTCACATCAGGTGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTGACCCCAGTTTTTTTTGTTTGTTTGTTTTGTTTTGTTTTGAGACGGAGTTTTGCTCTTGTTGCCTAGGCTGCAGTGTAATGGCACGATCTCAGCTCGCCACAACCGCAACCCCCACCTCCGGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACAACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGAGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACCCCCTACCTTAGGCGATCTGCCTGCCTCAGCTTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCGCGCGCAGCCTGTGACCCCAGTTTTGAGCAAAAGAGAGGAGACAACAAGTTAAGCCCAAGGCCTTCTCACTTGTCAATTGAAGGCCAAGTCGGGAACCCCCCCCACCCCCCAGTGACCTTAGGCACGTCAATTAGCGTGCCTTCATCTTTTCTCTGTAGCTTTTCAGGGATGAGATATCAGGGGTGTGAAAGGGCTTTGTAAAGGGCTAGCACCATTCCAGCACTATTTTCCAGTTTTCTGCAGCTCCTAATGGTGCCCGGTACTTTAATAGTTGCTCAATAAAATGTTTGTTCTCAAATAAATAATAATGCAACACAAAGTTATTGAGTACTTGCTGCATGTCAGGCCACAGATCAGGCACTGGAACCACAAAGAAGAGATAAAAGACACATCATCCCGCCCCTCAGAGAACTGGCAGAGTCGGAGGCTGTCAGCTTCCTTCTTAGGATTCAGTCATTGGAGAAAAGGCCCCTCATGGGGGGCCGAATGTGATGGAGGCCTTGACATGAAAGTGAGATTTCTGCAGGGGTTTCCACGTCATATCCAAGCCAGGCCATCTGGGTCAGAGGCTTTGGATTGAGGCTGGCAGTGAGGACAGGGTGAGGCTTCCAAGGAGCTCTTCAGCCAGCTGGCCACCAGTGCTCCTCCTTCTCCCCCTCCTTCCTCTCCTCCTCTTTCCCTATGCCAGGAGGGCAGGCTATTTTTAGTCAGGCATGGGCAACAGCAGCTGG |
Task1_train_27886 | The following genetic variant occurs in CTSA (cathepsin A) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | TGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAG | TGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCGGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAG |
Task1_train_27887 | A variant was discovered in gene CTSA (cathepsin A), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | AAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTG | AAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACCGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTG |
Task1_train_27888 | The following genetic variant occurs in CTSA (cathepsin A) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | ATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACT | ATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTTACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACT |
Task1_train_27889 | This mutation occurs in CTSA (cathepsin A) on Chromosome 20. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | CAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGC | CAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGAATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGC |
Task1_train_27890 | A genomic change on Chromosome 20 affects CTSA (cathepsin A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Galactosialidosis, early infantile | TGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAG | TGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCCCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAG |
Task1_train_27891 | The gene CTSA (cathepsin A), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | CTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTC | CTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCAATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTC |
Task1_train_27892 | Gene CTSA (cathepsin A) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGCCCTTGAGACTTCCTGTCAGGACAAGGGAAGCTGAAACTCCGAAAGGCGAAGCCCAGGGTCCTGTGATTGGTGGGGTCAGAATTTGAACCTGGGTTTGTCCCCACCCATGCTGTCCTGCTATAGGAGGCCTAGGGGTCTGCATCAGCCACGGAGTCTTAAGGGTGAGAAGAGCTTCATTCATGCCAAAAATGGGCCAGCAGAGGTCCAGGGTGGGAGGAGACCTTGCACAAGGTGATATAGGAAGCACTGGCAGGGCCAAGTTAGGACTAGGTTCTGTCCAGCACAGTGGTTAATAGCATGGGCTCTGGAGTCACATGGCCTGGGTGCAAGTCCCTGTACTAGCCACATAATCTTGGGCAAATTTCTTAAATATGAGCCTCAGGTTCTCCATCTGTAAAATGGGGATAATAATGATATCTACCTTCACAGATAAAACATTTAGTAGAATACTGGACATGCAGTAAGTCGTTAGAAAACATGAAAATTCCCTGGTTCGTGTTATCTAGCTTGGCCCCTTGAATTTCCTGAGGGGTAGGCCTTGAACTAGGGAAGGGCTGGGGACTGGGCTTGTTCCACACCCCTCATTTTTACCCCATCCTGCTTTAGAAATACCAGATCCTATTATATAATGGAGATGTAGACATGGCCTGCAATTTCATGGGGGATGAGTGGTTTGTGGATTCCCTCAACCAGAAGGTAAGGTAGAGATTCCTGGCCCTGGGATAGGGGCTGCTGTGGAGGATTGGGAGCGGGTATGCCTGGGAGTGGCCAGCTGGCTGCCTGGCTCTGGCCCACAGAGGGCAAGTGTGGAGGAATTCCCAGCCCTAAGGTCTTGCTGGTAGCTGTGAGCAAGGATGCAGCTGCTGTAGGCTGATGTCTTTCCTGGTGGGGCAGATGGAGGTGCAGCGCCGGCCCTGGTTAGTGAAGTACGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACATCGCCTTTCTCACGATCAAGGTAGGGACTGGGCCTGCTGAGAGATAACTGGGCCGGAGGCAAAGGAGCAGGACCCACCCGTCCTTTCCCTCTGGCTGCCTTTTAGGCTGGGTCATGGGTCACCATCTGGCCCCTGTATGGGCAAGTTTTTTTGGAGAGGGGTGGGGAGGGTTCTGGGAAGAATAAAGGGTTTGGGATGAAGGAATTGCCCCCGAGTGAGCAGTTATATGGGGAGGAGGGAATGGTGGGGTCAGGAGCTCACGAACATTGCTCCTCAGGGCGCCGGCCACATGGTTCCCACCGACAAGCCCCTCGCTGCCTTCACCATGTTCTCCCGCTTCCTGAACAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAGCCCCTCCCAGCCTCTCCCGCTAGGAGAGTCCTCTTCTAAGCAAAGTGCCCCTGCAGGCCGGGTTCTGCCGCCAGGACTGCCCCCTTCCCAGAGCCCTGTACATCCCAGACTGGGCCCAGGGTCTCCCATAGACAGCCTGGGGGCAAGTTAGCACTTTATTCCCGCAGCAGTTCCTGAATGGGGTGGCCTGGCCCCTTCTCTGCTTAAAGAATGCCCTTTATGATGCACTGATTCCATCCCAGGAACCCAACAGAGCTCAGGACAGCCCACAGGGAGGTGGTGGACGGACTGTAATTGATAGATTGATTATGGAATTAAATTGGGTACAGCTTCAAATCCCGTCTTCTCTGTGGCACTGGGGGTTAGAGGGGGCACTACAGGCTATGAATGTGGGAAAAGAGGGGCTGAGAGGGGTTGGGGTCCTGAATGACAGCTGCCAGCTTGGGGATTGAGGGCTCAGACAGCTGCTGTGGACGGTGTGGGGGCAGTGGACGCCCTGACATCAGCAGGCCGGTTCTTCTCAATCACCTCTCGCAGCCCTTTGGCAAAGTGGAGATCAGCCCCGATGGTGAGGAATCCCTGTGTTGGGGAGAGGGGAGCCTCATTTATTCATTCAGTTATTGAGGCCAGAGTTTAGAGATCAAGAGACAGAGTGTTTGTCTTTCAGGAACTCAATCTAATGGATAATTCCATGTCAAGGTGTTAAAATGAGGCTGTAGGAGTGTAGACTATGGGTGTCAAGGAGGGCTTCTTGGAGGAGGTGACCTCTGAGCTAAGACCTGAACAATTAGTAGGTATTGGGATGGGAGAAGAGTGCTCCAAGAAGTCACAGTGTGTGCAACGGCTTTTAGGAGTCTAAGATTAAAATGGGAGGGGCGACTGGTAATGGGGGAGCTGGGGTCAGGTAATGGAGGGCACTGGGGAGCTATAGAGAGAGGGGAAGGCCCTCCCTCCTTCCCCATCCTGCCCCCACTCACCGCATGGTTCGTCACCACCTCATGCACAAAGTTGATGCCCTCAGGTAGTGGGATCTGCACCCCACGCCAGGTCCGCTCTGTGGGTGGGAGCACCCCGCTCAGTCTGGGCCCGCCCAGTTCACCCCTCCTTTCTTCCTCCATCCTCACACCCCAGCCTTACCATTGAGCATGGGCATCACCCCAATCTGCAGCATGGTCTTCAGAGGGGCCTGTAATGGGATCAGCTGGGAGGGGCGAGGGCGGAAACAGGGCAGTGAGTCAGGGTTGGGTTTGCCTTTAGCTGCCCGCAGGTGAGCAGTTATATGAGGAGGGGGGGATGGTG | CTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGCCCTTGAGACTTCCTGTCAGGACAAGGGAAGCTGAAACTCCGAAAGGCGAAGCCCAGGGTCCTGTGATTGGTGGGGTCAGAATTTGAACCTGGGTTTGTCCCCACCCATGCTGTCCTGCTATAGGAGGCCTAGGGGTCTGCATCAGCCACGGAGTCTTAAGGGTGAGAAGAGCTTCATTCATGCCAAAAATGGGCCAGCAGAGGTCCAGGGTGGGAGGAGACCTTGCACAAGGTGATATAGGAAGCACTGGCAGGGCCAAGTTAGGACTAGGTTCTGTCCAGCACAGTGGTTAATAGCATGGGCTCTGGAGTCACATGGCCTGGGTGCAAGTCCCTGTACTAGCCACATAATCTTGGGCAAATTTCTTAAATATGAGCCTCAGGTTCTCCATCTGTAAAATGGGGATAATAATGATATCTACCTTCACAGATAAAACATTTAGTAGAATACTGGACATGCAGTAAGTCGTTAGAAAACATGAAAATTCCCTGGTTCGTGTTATCTAGCTTGGCCCCTTGAATTTCCTGAGGGGTAGGCCTTGAACTAGGGAAGGGCTGGGGACTGGGCTTGTTCCACACCCCTCATTTTTACCCCATCCTGCTTTAGAAATACCAGATCCTATTATGTAATGGAGATGTAGACATGGCCTGCAATTTCATGGGGGATGAGTGGTTTGTGGATTCCCTCAACCAGAAGGTAAGGTAGAGATTCCTGGCCCTGGGATAGGGGCTGCTGTGGAGGATTGGGAGCGGGTATGCCTGGGAGTGGCCAGCTGGCTGCCTGGCTCTGGCCCACAGAGGGCAAGTGTGGAGGAATTCCCAGCCCTAAGGTCTTGCTGGTAGCTGTGAGCAAGGATGCAGCTGCTGTAGGCTGATGTCTTTCCTGGTGGGGCAGATGGAGGTGCAGCGCCGGCCCTGGTTAGTGAAGTACGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACATCGCCTTTCTCACGATCAAGGTAGGGACTGGGCCTGCTGAGAGATAACTGGGCCGGAGGCAAAGGAGCAGGACCCACCCGTCCTTTCCCTCTGGCTGCCTTTTAGGCTGGGTCATGGGTCACCATCTGGCCCCTGTATGGGCAAGTTTTTTTGGAGAGGGGTGGGGAGGGTTCTGGGAAGAATAAAGGGTTTGGGATGAAGGAATTGCCCCCGAGTGAGCAGTTATATGGGGAGGAGGGAATGGTGGGGTCAGGAGCTCACGAACATTGCTCCTCAGGGCGCCGGCCACATGGTTCCCACCGACAAGCCCCTCGCTGCCTTCACCATGTTCTCCCGCTTCCTGAACAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAGCCCCTCCCAGCCTCTCCCGCTAGGAGAGTCCTCTTCTAAGCAAAGTGCCCCTGCAGGCCGGGTTCTGCCGCCAGGACTGCCCCCTTCCCAGAGCCCTGTACATCCCAGACTGGGCCCAGGGTCTCCCATAGACAGCCTGGGGGCAAGTTAGCACTTTATTCCCGCAGCAGTTCCTGAATGGGGTGGCCTGGCCCCTTCTCTGCTTAAAGAATGCCCTTTATGATGCACTGATTCCATCCCAGGAACCCAACAGAGCTCAGGACAGCCCACAGGGAGGTGGTGGACGGACTGTAATTGATAGATTGATTATGGAATTAAATTGGGTACAGCTTCAAATCCCGTCTTCTCTGTGGCACTGGGGGTTAGAGGGGGCACTACAGGCTATGAATGTGGGAAAAGAGGGGCTGAGAGGGGTTGGGGTCCTGAATGACAGCTGCCAGCTTGGGGATTGAGGGCTCAGACAGCTGCTGTGGACGGTGTGGGGGCAGTGGACGCCCTGACATCAGCAGGCCGGTTCTTCTCAATCACCTCTCGCAGCCCTTTGGCAAAGTGGAGATCAGCCCCGATGGTGAGGAATCCCTGTGTTGGGGAGAGGGGAGCCTCATTTATTCATTCAGTTATTGAGGCCAGAGTTTAGAGATCAAGAGACAGAGTGTTTGTCTTTCAGGAACTCAATCTAATGGATAATTCCATGTCAAGGTGTTAAAATGAGGCTGTAGGAGTGTAGACTATGGGTGTCAAGGAGGGCTTCTTGGAGGAGGTGACCTCTGAGCTAAGACCTGAACAATTAGTAGGTATTGGGATGGGAGAAGAGTGCTCCAAGAAGTCACAGTGTGTGCAACGGCTTTTAGGAGTCTAAGATTAAAATGGGAGGGGCGACTGGTAATGGGGGAGCTGGGGTCAGGTAATGGAGGGCACTGGGGAGCTATAGAGAGAGGGGAAGGCCCTCCCTCCTTCCCCATCCTGCCCCCACTCACCGCATGGTTCGTCACCACCTCATGCACAAAGTTGATGCCCTCAGGTAGTGGGATCTGCACCCCACGCCAGGTCCGCTCTGTGGGTGGGAGCACCCCGCTCAGTCTGGGCCCGCCCAGTTCACCCCTCCTTTCTTCCTCCATCCTCACACCCCAGCCTTACCATTGAGCATGGGCATCACCCCAATCTGCAGCATGGTCTTCAGAGGGGCCTGTAATGGGATCAGCTGGGAGGGGCGAGGGCGGAAACAGGGCAGTGAGTCAGGGTTGGGTTTGCCTTTAGCTGCCCGCAGGTGAGCAGTTATATGAGGAGGGGGGGATGGTG |
Task1_train_27893 | This is a variant in CTSA (cathepsin A), located on Chromosome 20. Is this mutation a likely cause of disease or not? | Pathogenic; Galactosialidosis, late infantile | CAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGCCCTTGAGACTTCCTGTCAGGACAAGGGAAGCTGAAACTCCGAAAGGCGAAGCCCAGGGTCCTGTGATTGGTGGGGTCAGAATTTGAACCTGGGTTTGTCCCCACCCATGCTGTCCTGCTATAGGAGGCCTAGGGGTCTGCATCAGCCACGGAGTCTTAAGGGTGAGAAGAGCTTCATTCATGCCAAAAATGGGCCAGCAGAGGTCCAGGGTGGGAGGAGACCTTGCACAAGGTGATATAGGAAGCACTGGCAGGGCCAAGTTAGGACTAGGTTCTGTCCAGCACAGTGGTTAATAGCATGGGCTCTGGAGTCACATGGCCTGGGTGCAAGTCCCTGTACTAGCCACATAATCTTGGGCAAATTTCTTAAATATGAGCCTCAGGTTCTCCATCTGTAAAATGGGGATAATAATGATATCTACCTTCACAGATAAAACATTTAGTAGAATACTGGACATGCAGTAAGTCGTTAGAAAACATGAAAATTCCCTGGTTCGTGTTATCTAGCTTGGCCCCTTGAATTTCCTGAGGGGTAGGCCTTGAACTAGGGAAGGGCTGGGGACTGGGCTTGTTCCACACCCCTCATTTTTACCCCATCCTGCTTTAGAAATACCAGATCCTATTATATAATGGAGATGTAGACATGGCCTGCAATTTCATGGGGGATGAGTGGTTTGTGGATTCCCTCAACCAGAAGGTAAGGTAGAGATTCCTGGCCCTGGGATAGGGGCTGCTGTGGAGGATTGGGAGCGGGTATGCCTGGGAGTGGCCAGCTGGCTGCCTGGCTCTGGCCCACAGAGGGCAAGTGTGGAGGAATTCCCAGCCCTAAGGTCTTGCTGGTAGCTGTGAGCAAGGATGCAGCTGCTGTAGGCTGATGTCTTTCCTGGTGGGGCAGATGGAGGTGCAGCGCCGGCCCTGGTTAGTGAAGTACGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACATCGCCTTTCTCACGATCAAGGTAGGGACTGGGCCTGCTGAGAGATAACTGGGCCGGAGGCAAAGGAGCAGGACCCACCCGTCCTTTCCCTCTGGCTGCCTTTTAGGCTGGGTCATGGGTCACCATCTGGCCCCTGTATGGGCAAGTTTTTTTGGAGAGGGGTGGGGAGGGTTCTGGGAAGAATAAAGGGTTTGGGATGAAGGAATTGCCCCCGAGTGAGCAGTTATATGGGGAGGAGGGAATGGTGGGGTCAGGAGCTCACGAACATTGCTCCTCAGGGCGCCGGCCACATGGTTCCCACCGACAAGCCCCTCGCTGCCTTCACCATGTTCTCCCGCTTCCTGAACAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAGCCCCTCCCAGCCTCTCCCGCTAGGAGAGTCCTCTTCTAAGCAAAGTGCCCCTGCAGGCCGGGTTCTGCCGCCAGGACTGCCCCCTTCCCAGAGCCCTGTACATCCCAGACTGGGCCCAGGGTCTCCCATAGACAGCCTGGGGGCAAGTTAGCACTTTATTCCCGCAGCAGTTCCTGAATGGGGTGGCCTGGCCCCTTCTCTGCTTAAAGAATGCCCTTTATGATGCACTGATTCCATCCCAGGAACCCAACAGAGCTCAGGACAGCCCACAGGGAGGTGGTGGACGGACTGTAATTGATAGATTGATTATGGAATTAAATTGGGTACAGCTTCAAATCCCGTCTTCTCTGTGGCACTGGGGGTTAGAGGGGGCACTACAGGCTATGAATGTGGGAAAAGAGGGGCTGAGAGGGGTTGGGGTCCTGAATGACAGCTGCCAGCTTGGGGATTGAGGGCTCAGACAGCTGCTGTGGACGGTGTGGGGGCAGTGGACGCCCTGACATCAGCAGGCCGGTTCTTCTCAATCACCTCTCGCAGCCCTTTGGCAAAGTGGAGATCAGCCCCGATGGTGAGGAATCCCTGTGTTGGGGAGAGGGGAGCCTCATTTATTCATTCAGTTATTGAGGCCAGAGTTTAGAGATCAAGAGACAGAGTGTTTGTCTTTCAGGAACTCAATCTAATGGATAATTCCATGTCAAGGTGTTAAAATGAGGCTGTAGGAGTGTAGACTATGGGTGTCAAGGAGGGCTTCTTGGAGGAGGTGACCTCTGAGCTAAGACCTGAACAATTAGTAGGTATTGGGATGGGAGAAGAGTGCTCCAAGAAGTCACAGTGTGTGCAACGGCTTTTAGGAGTCTAAGATTAAAATGGGAGGGGCGACTGGTAATGGGGGAGCTGGGGTCAGGTAATGGAGGGCACTGGGGAGCTATAGAGAGAGGGGAAGGCCCTCCCTCCTTCCCCATCCTGCCCCCACTCACCGCATGGTTCGTCACCACCTCATGCACAAAGTTGATGCCCTCAGGTAGTGGGATCTGCACCCCACGCCAGGTCCGCTCTGTGGGTGGGAGCACCCCGCTCAGTCTGGGCCCGCCCAGTTCACCCCTCCTTTCTTCCTCCATCCTCACACCCCAGCCTTACCATTGAGCATGGGCATCACCCCAATCTGCAGCATGGTCTTCAGAGGGGCCTGTAATGGGATCAGCTGGGAGGGGCGAGGGCGGAAACAGGGCAGTGAGTCAGGGTTGGGTTTGCCTTTAGCTGCCCGCAGGTGAGCAGTTATATGAGGAGGGGGGGATGGTGAGGGTCAGGATCTCACGAACCCAGCCCAGCCCA | CAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGCCCTTGAGACTTCCTGTCAGGACAAGGGAAGCTGAAACTCCGAAAGGCGAAGCCCAGGGTCCTGTGATTGGTGGGGTCAGAATTTGAACCTGGGTTTGTCCCCACCCATGCTGTCCTGCTATAGGAGGCCTAGGGGTCTGCATCAGCCACGGAGTCTTAAGGGTGAGAAGAGCTTCATTCATGCCAAAAATGGGCCAGCAGAGGTCCAGGGTGGGAGGAGACCTTGCACAAGGTGATATAGGAAGCACTGGCAGGGCCAAGTTAGGACTAGGTTCTGTCCAGCACAGTGGTTAATAGCATGGGCTCTGGAGTCACATGGCCTGGGTGCAAGTCCCTGTACTAGCCACATAATCTTGGGCAAATTTCTTAAATATGAGCCTCAGGTTCTCCATCTGTAAAATGGGGATAATAATGATATCTACCTTCACAGATAAAACATTTAGTAGAATACTGGACATGCAGTAAGTCGTTAGAAAACATGAAAATTCCCTGGTTCGTGTTATCTAGCTTGGCCCCTTGAATTTCCTGAGGGGTAGGCCTTGAACTAGGGAAGGGCTGGGGACTGGGCTTGTTCCACACCCCTCATTTTTACCCCATCCTGCTTTAGAAATACCAGATCCTATTATATAATGGAGATGTAGACATGGCCTGCAATTTCACGGGGGATGAGTGGTTTGTGGATTCCCTCAACCAGAAGGTAAGGTAGAGATTCCTGGCCCTGGGATAGGGGCTGCTGTGGAGGATTGGGAGCGGGTATGCCTGGGAGTGGCCAGCTGGCTGCCTGGCTCTGGCCCACAGAGGGCAAGTGTGGAGGAATTCCCAGCCCTAAGGTCTTGCTGGTAGCTGTGAGCAAGGATGCAGCTGCTGTAGGCTGATGTCTTTCCTGGTGGGGCAGATGGAGGTGCAGCGCCGGCCCTGGTTAGTGAAGTACGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACATCGCCTTTCTCACGATCAAGGTAGGGACTGGGCCTGCTGAGAGATAACTGGGCCGGAGGCAAAGGAGCAGGACCCACCCGTCCTTTCCCTCTGGCTGCCTTTTAGGCTGGGTCATGGGTCACCATCTGGCCCCTGTATGGGCAAGTTTTTTTGGAGAGGGGTGGGGAGGGTTCTGGGAAGAATAAAGGGTTTGGGATGAAGGAATTGCCCCCGAGTGAGCAGTTATATGGGGAGGAGGGAATGGTGGGGTCAGGAGCTCACGAACATTGCTCCTCAGGGCGCCGGCCACATGGTTCCCACCGACAAGCCCCTCGCTGCCTTCACCATGTTCTCCCGCTTCCTGAACAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAGCCCCTCCCAGCCTCTCCCGCTAGGAGAGTCCTCTTCTAAGCAAAGTGCCCCTGCAGGCCGGGTTCTGCCGCCAGGACTGCCCCCTTCCCAGAGCCCTGTACATCCCAGACTGGGCCCAGGGTCTCCCATAGACAGCCTGGGGGCAAGTTAGCACTTTATTCCCGCAGCAGTTCCTGAATGGGGTGGCCTGGCCCCTTCTCTGCTTAAAGAATGCCCTTTATGATGCACTGATTCCATCCCAGGAACCCAACAGAGCTCAGGACAGCCCACAGGGAGGTGGTGGACGGACTGTAATTGATAGATTGATTATGGAATTAAATTGGGTACAGCTTCAAATCCCGTCTTCTCTGTGGCACTGGGGGTTAGAGGGGGCACTACAGGCTATGAATGTGGGAAAAGAGGGGCTGAGAGGGGTTGGGGTCCTGAATGACAGCTGCCAGCTTGGGGATTGAGGGCTCAGACAGCTGCTGTGGACGGTGTGGGGGCAGTGGACGCCCTGACATCAGCAGGCCGGTTCTTCTCAATCACCTCTCGCAGCCCTTTGGCAAAGTGGAGATCAGCCCCGATGGTGAGGAATCCCTGTGTTGGGGAGAGGGGAGCCTCATTTATTCATTCAGTTATTGAGGCCAGAGTTTAGAGATCAAGAGACAGAGTGTTTGTCTTTCAGGAACTCAATCTAATGGATAATTCCATGTCAAGGTGTTAAAATGAGGCTGTAGGAGTGTAGACTATGGGTGTCAAGGAGGGCTTCTTGGAGGAGGTGACCTCTGAGCTAAGACCTGAACAATTAGTAGGTATTGGGATGGGAGAAGAGTGCTCCAAGAAGTCACAGTGTGTGCAACGGCTTTTAGGAGTCTAAGATTAAAATGGGAGGGGCGACTGGTAATGGGGGAGCTGGGGTCAGGTAATGGAGGGCACTGGGGAGCTATAGAGAGAGGGGAAGGCCCTCCCTCCTTCCCCATCCTGCCCCCACTCACCGCATGGTTCGTCACCACCTCATGCACAAAGTTGATGCCCTCAGGTAGTGGGATCTGCACCCCACGCCAGGTCCGCTCTGTGGGTGGGAGCACCCCGCTCAGTCTGGGCCCGCCCAGTTCACCCCTCCTTTCTTCCTCCATCCTCACACCCCAGCCTTACCATTGAGCATGGGCATCACCCCAATCTGCAGCATGGTCTTCAGAGGGGCCTGTAATGGGATCAGCTGGGAGGGGCGAGGGCGGAAACAGGGCAGTGAGTCAGGGTTGGGTTTGCCTTTAGCTGCCCGCAGGTGAGCAGTTATATGAGGAGGGGGGGATGGTGAGGGTCAGGATCTCACGAACCCAGCCCAGCCCA |
Task1_train_27894 | This genomic variant is located on Chromosome 20, within the CTSA (cathepsin A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Combined deficiency of sialidase AND beta galactosidase | AAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGCCCTTGAGACTTCCTGTCAGGACAAGGGAAGCTGAAACTCCGAAAGGCGAAGCCCAGGGTCCTGTGATTGGTGGGGTCAGAATTTGAACCTGGGTTTGTCCCCACCCATGCTGTCCTGCTATAGGAGGCCTAGGGGTCTGCATCAGCCACGGAGTCTTAAGGGTGAGAAGAGCTTCATTCATGCCAAAAATGGGCCAGCAGAGGTCCAGGGTGGGAGGAGACCTTGCACAAGGTGATATAGGAAGCACTGGCAGGGCCAAGTTAGGACTAGGTTCTGTCCAGCACAGTGGTTAATAGCATGGGCTCTGGAGTCACATGGCCTGGGTGCAAGTCCCTGTACTAGCCACATAATCTTGGGCAAATTTCTTAAATATGAGCCTCAGGTTCTCCATCTGTAAAATGGGGATAATAATGATATCTACCTTCACAGATAAAACATTTAGTAGAATACTGGACATGCAGTAAGTCGTTAGAAAACATGAAAATTCCCTGGTTCGTGTTATCTAGCTTGGCCCCTTGAATTTCCTGAGGGGTAGGCCTTGAACTAGGGAAGGGCTGGGGACTGGGCTTGTTCCACACCCCTCATTTTTACCCCATCCTGCTTTAGAAATACCAGATCCTATTATATAATGGAGATGTAGACATGGCCTGCAATTTCATGGGGGATGAGTGGTTTGTGGATTCCCTCAACCAGAAGGTAAGGTAGAGATTCCTGGCCCTGGGATAGGGGCTGCTGTGGAGGATTGGGAGCGGGTATGCCTGGGAGTGGCCAGCTGGCTGCCTGGCTCTGGCCCACAGAGGGCAAGTGTGGAGGAATTCCCAGCCCTAAGGTCTTGCTGGTAGCTGTGAGCAAGGATGCAGCTGCTGTAGGCTGATGTCTTTCCTGGTGGGGCAGATGGAGGTGCAGCGCCGGCCCTGGTTAGTGAAGTACGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACATCGCCTTTCTCACGATCAAGGTAGGGACTGGGCCTGCTGAGAGATAACTGGGCCGGAGGCAAAGGAGCAGGACCCACCCGTCCTTTCCCTCTGGCTGCCTTTTAGGCTGGGTCATGGGTCACCATCTGGCCCCTGTATGGGCAAGTTTTTTTGGAGAGGGGTGGGGAGGGTTCTGGGAAGAATAAAGGGTTTGGGATGAAGGAATTGCCCCCGAGTGAGCAGTTATATGGGGAGGAGGGAATGGTGGGGTCAGGAGCTCACGAACATTGCTCCTCAGGGCGCCGGCCACATGGTTCCCACCGACAAGCCCCTCGCTGCCTTCACCATGTTCTCCCGCTTCCTGAACAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAGCCCCTCCCAGCCTCTCCCGCTAGGAGAGTCCTCTTCTAAGCAAAGTGCCCCTGCAGGCCGGGTTCTGCCGCCAGGACTGCCCCCTTCCCAGAGCCCTGTACATCCCAGACTGGGCCCAGGGTCTCCCATAGACAGCCTGGGGGCAAGTTAGCACTTTATTCCCGCAGCAGTTCCTGAATGGGGTGGCCTGGCCCCTTCTCTGCTTAAAGAATGCCCTTTATGATGCACTGATTCCATCCCAGGAACCCAACAGAGCTCAGGACAGCCCACAGGGAGGTGGTGGACGGACTGTAATTGATAGATTGATTATGGAATTAAATTGGGTACAGCTTCAAATCCCGTCTTCTCTGTGGCACTGGGGGTTAGAGGGGGCACTACAGGCTATGAATGTGGGAAAAGAGGGGCTGAGAGGGGTTGGGGTCCTGAATGACAGCTGCCAGCTTGGGGATTGAGGGCTCAGACAGCTGCTGTGGACGGTGTGGGGGCAGTGGACGCCCTGACATCAGCAGGCCGGTTCTTCTCAATCACCTCTCGCAGCCCTTTGGCAAAGTGGAGATCAGCCCCGATGGTGAGGAATCCCTGTGTTGGGGAGAGGGGAGCCTCATTTATTCATTCAGTTATTGAGGCCAGAGTTTAGAGATCAAGAGACAGAGTGTTTGTCTTTCAGGAACTCAATCTAATGGATAATTCCATGTCAAGGTGTTAAAATGAGGCTGTAGGAGTGTAGACTATGGGTGTCAAGGAGGGCTTCTTGGAGGAGGTGACCTCTGAGCTAAGACCTGAACAATTAGTAGGTATTGGGATGGGAGAAGAGTGCTCCAAGAAGTCACAGTGTGTGCAACGGCTTTTAGGAGTCTAAGATTAAAATGGGAGGGGCGACTGGTAATGGGGGAGCTGGGGTCAGGTAATGGAGGGCACTGGGGAGCTATAGAGAGAGGGGAAGGCCCTCCCTCCTTCCCCATCCTGCCCCCACTCACCGCATGGTTCGTCACCACCTCATGCACAAAGTTGATGCCCTCAGGTAGTGGGATCTGCACCCCACGCCAGGTCCGCTCTGTGGGTGGGAGCACCCCGCTCAGTCTGGGCCCGCCCAGTTCACCCCTCCTTTCTTCCTCCATCCTCACACCCCAGCCTTACCATTGAGCATGGGCATCACCCCAATCTGCAGCATGGTCTTCAGAGGGGCCTGTAATGGGATCAGCTGGGAGGGGCGAGGGCGGAAACAGGGCAGTGAGTCAGGGTTGGGTTTGCCTTTAGCTGCCCGCAGGTGAGCAGTTATATGAGGAGGGGGGGATGGTGAGGGTCAGGATCTCACGAACCCAGCCCAGCCCACCCACCCTTCCCCACTCACAGCCAGCGACTCCAGTGCAGAATGGTTGGAATAGATTCGGAACCTGCGGGAAAGAAAGGAGCCCTGTGGGCAGGAAGCCTGGAAGCTCCCCTTCCTCAGGCCACCCAGGCCTACCTGCCAGAGGTGTCTGAGTTGCAGGCTCAGATGCCCACCTAGGCACCTTTCCAAGTGCTACAACTTTCCAGGTATCCTCGGGGCAGTCATTGCTGCCACTTGGGTCTCCTTTTCTCCAAGACTGCTACTTTTTATTTATTGAGCACCTCTTTTTTTTTTTTTT | AAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGCCCTTGAGACTTCCTGTCAGGACAAGGGAAGCTGAAACTCCGAAAGGCGAAGCCCAGGGTCCTGTGATTGGTGGGGTCAGAATTTGAACCTGGGTTTGTCCCCACCCATGCTGTCCTGCTATAGGAGGCCTAGGGGTCTGCATCAGCCACGGAGTCTTAAGGGTGAGAAGAGCTTCATTCATGCCAAAAATGGGCCAGCAGAGGTCCAGGGTGGGAGGAGACCTTGCACAAGGTGATATAGGAAGCACTGGCAGGGCCAAGTTAGGACTAGGTTCTGTCCAGCACAGTGGTTAATAGCATGGGCTCTGGAGTCACATGGCCTGGGTGCAAGTCCCTGTACTAGCCACATAATCTTGGGCAAATTTCTTAAATATGAGCCTCAGGTTCTCCATCTGTAAAATGGGGATAATAATGATATCTACCTTCACAGATAAAACATTTAGTAGAATACTGGACATGCAGTAAGTCGTTAGAAAACATGAAAATTCCCTGGTTCGTGTTATCTAGCTTGGCCCCTTGAATTTCCTGAGGGGTAGGCCTTGAACTAGGGAAGGGCTGGGGACTGGGCTTGTTCCACACCCCTCATTTTTACCCCATCCTGCTTTAGAAATACCAGATCCTATTATATAATGGAGATGTAGACATGGCCTGCAATTTCATGGGGGATGAGTGGTTTGTGGATTCCCTCAACCAGAAGGTAAGGTAGAGATTCCTGGCCCTGGGATAGGGGCTGCTGTGGAGGATTGGGAGCGGGTATGCCTGGGAGTGGCCAGCTGGCTGCCTGGCTCTGGCCCACAGAGGGCAAGTGTGGAGGAATTCCCAGCCCTAAGGTCTTGCTGGTAGCTGTGAGCAAGGATGCAGCTGCTGTAGGCTGATGTCTTTCCTGGTGGGGCAGATGGAGGTGCAGCGCCGGCCCTGGTTAGTGAAGTACGGGGACAGCGGGGAGCAGATTGCCAGCTTCGTGAAGGAGTTCTCCCACATCGCCTTTCTCACGATCAAGGTAGGGACTGGGCCTGCTGAGAGATAACTGGGCCGGAGGCAAAGGAGCAGGACCCACCCGTCCTTTCCCTCTGGCTGCCTTTTAGGCTGGGTCATGGGTCACCATCTGGCCCCTGTATGGGCAAGTTTTTTTGGAGAGGGGTGGGGAGGGTTCTGGGAAGAATAAAGGGTTTGGGATGAAGGAATTGCCCCCGAGTGAGCAGTTATATGGGGAGGAGGGAATGGTGGGGTCAGGAGCTCACGAACATTGCTCCTCAGGGCGCCGGCCACATGGTTCCCACCGACAAGCCCCTCGCTGCCTTCACCATGTTCTCCCGCTTCCTGAACAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAGCCCCTCCCAGCCTCTCCCGCTAGGAGAGTCCTCTTCTAAGCAAAGTGCCCCTGCAGGCCGGGTTCTGCCGCCAGGACTGCCCCCTTCCCAGAGCCCTGTACATCCCAGACTGGGCCCAGGGTCTCCCATAGACAGCCTGGGGGCAAGTTAGCACTTTATTCCCGCAGCAGTTCCTGAATGGGGTGGCCTGGCCCCTTCTCTGCTTAAAGAATGCCCTTTATGATGCACTGATTCCATCCCAGGAACCCAACAGAGCTCAGGACAGCCCACAGGGAGGTGGTGGACGGACTGTAATTGATAGATTGATTATGGAATTAAATTGGGTACAGCTTCAAATCCCGTCTTCTCTGTGGCACTGGGGGTTAGAGGGGGCACTACAGGCTATGAATGTGGGAAAAGAGGGGCTGAGAGGGGTTGGGGTCCTGAATGACAGCTGCCAGCTTGGGGATTGAGGGCTCAGACAGCTGCTGTGGACGGTGTGGGGGCAGTGGACGCCCTGACATCAGCAGGCCGGTTCTTCTCAATCACCTCTCGCAGCCCTTTGGCAAAGTGGAGATCAGCCCCGATGGTGAGGAATCCCTGTGTTGGGGAGAGGGGAGCCTCATTTATTCATTCAGTTATTGAGGCCAGAGTTTAGAGATCAAGAGACAGAGTGTTTGTCTTTCAGGAACTCAATCTAATGGATAATTCCATGTCAAGGTGTTAAAATGAGGCTGTAGGAGTGTAGACTATGGGTGTCAAGGAGGGCTTCTTGGAGGAGGTGACCTCTGAGCTAAGACCTGAACAATTAGTAGGTATTGGGATGGGAGAAGAGTGCTCCAAGAAGTCACAGTGTGTGCAACGGCTTTTAGGAGTCTAAGATTAAAATGGGAGGGGCGACTGGTAATGGGGGAGCTGGGGTCAGGTAATGGAGGGCACTGGGGAGCTATAGAGAGAGGGGAAGGCCCTCCCTCCTTCCCCATCCTGCCCCCACTCACCGCATGGTTCGTCACCACCTCATGCACAAAGTTGATGCCCTCAGGTAGTGGGATCTGCACCCCACGCCAGGTCCGCTCTGTGGGTGGGAGCACCCCGCTCAGTCTGGGCCCGCCCAGTTCACCCCTCCTTTCTTCCTCCATCCTCACACCCCAGCCTTACCATTGAGCATGGGCATCACCCCAATCTGCAGCATGGTCTTCAGAGGGGCCTGTAATGGGATCAGCTGGGAGGGGCGAGGGCGGAAACAGGGCAGTGAGTCAGGGTTGGGTTTGCCTTTAGCTGCCCGCAGGTGAGCAGTTATATGAGGAGGGGGGGATGGTGAGGGTCAGGATCTCACGAACCCAGCCCAGCCCACCCACCCTTCCCCACTCACAGCCAGCGACTCCAGTGCAGAATGGTTGGAATAGATTCGGAACCTGCGGGAAAGAAAGGAGCCCTGTGGGCAGGAAGCCTGGAAGCTCCCCTTCCTCAGGCCACCCAGGCCTACCTGCCAGAGGTGTCTGAGTTGCAGGCTCAGATGCCCACCTAGGCACCTTTCCAAGTGCTACAACTTTCCAGGTATCCTCGGGGCAGTCATTGCTGCCACTTGGGTCTCCTTTTCTCCAAGACTGCTACTTTTTATTTATTGAGCACCTCTTTTTTTTTTTTTT |
Task1_train_27895 | Gene CTSA (cathepsin A) on Chromosome 20 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Galactosialidosis, late infantile | CTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGCCCTTGAGACTTCCTGTCAGGACAAGGGAAGCTGAAACTCCGAAAGGCGAAGCCCAGGGTCCTGTGATTGGTGGGGTCAGAATTTGAACCTGGGTTTGTCCCCACCCATGCTGTCCTGCTATAGGAGGCCTAGGGGTCTGCATCAGCCACGGAGTCTTAAGGGTGAGAAGAGCTTCATTCATGCCAAAAATGGGCCAGCAGAGGTCCAGGGTGGGAGGAGACCTTGCACAAGGTGATATAGGAAGCACTGGCAGGGCCAAGTTAGGACTAGGTTCTGTCCAGCACAGTGGTTAATAGCATGGGCTCTGGAGTCACATGGCCTGGGTGCAAGTCCCTGTACTAGCCACATAATCTTGGGCAAATTTCTTAAATATGAGCCTCAGGTTCTCCATCTGTAAAATGGGGATAATAATGATATCTACCTTCACAGATAAAACATTTAGTAGAATACTGGACATGCAGTAAGTCGTTAGAAAACATGAAAATTCCCTGGTTCGTGTTATCTAGCTTGGCCCCTTGAATTTCCTGAGGGGTAGGCCTTGAACTAGGGAAGGGCTGGGGACTGGGCTTGTTCCACACCCCTCATTTTTACCCCATCCTGCTTTAGAAATACCAGATCCTATTATATAATGGAGATGTAGACATGGCCTGCAATTTCATGGGGGATGAGTGGTTTGTGGATTCCCTCAACCAGAAGGTAAGGTAGAGATTCCTGGCCCTGGGATAGGGGCTGCTGTGGAGGATTGGGAGCGGGTATGCCTGGGAGTGGCCAGCTGGCTGCCTGGCTCTGGCCCACAGAGGGCAAGTGTGGAGGAATTCCCAGCCCTAAGGTCTTGCTGGTAGCTGTGAGCAAGGATGCAGCTGCTGTAGGCTGATGTCTTTCCTGGTGGGGCAGATGGAGGTGCAGCGCCGGCCCTGGTTAGTGAAGTACGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACATCGCCTTTCTCACGATCAAGGTAGGGACTGGGCCTGCTGAGAGATAACTGGGCCGGAGGCAAAGGAGCAGGACCCACCCGTCCTTTCCCTCTGGCTGCCTTTTAGGCTGGGTCATGGGTCACCATCTGGCCCCTGTATGGGCAAGTTTTTTTGGAGAGGGGTGGGGAGGGTTCTGGGAAGAATAAAGGGTTTGGGATGAAGGAATTGCCCCCGAGTGAGCAGTTATATGGGGAGGAGGGAATGGTGGGGTCAGGAGCTCACGAACATTGCTCCTCAGGGCGCCGGCCACATGGTTCCCACCGACAAGCCCCTCGCTGCCTTCACCATGTTCTCCCGCTTCCTGAACAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAGCCCCTCCCAGCCTCTCCCGCTAGGAGAGTCCTCTTCTAAGCAAAGTGCCCCTGCAGGCCGGGTTCTGCCGCCAGGACTGCCCCCTTCCCAGAGCCCTGTACATCCCAGACTGGGCCCAGGGTCTCCCATAGACAGCCTGGGGGCAAGTTAGCACTTTATTCCCGCAGCAGTTCCTGAATGGGGTGGCCTGGCCCCTTCTCTGCTTAAAGAATGCCCTTTATGATGCACTGATTCCATCCCAGGAACCCAACAGAGCTCAGGACAGCCCACAGGGAGGTGGTGGACGGACTGTAATTGATAGATTGATTATGGAATTAAATTGGGTACAGCTTCAAATCCCGTCTTCTCTGTGGCACTGGGGGTTAGAGGGGGCACTACAGGCTATGAATGTGGGAAAAGAGGGGCTGAGAGGGGTTGGGGTCCTGAATGACAGCTGCCAGCTTGGGGATTGAGGGCTCAGACAGCTGCTGTGGACGGTGTGGGGGCAGTGGACGCCCTGACATCAGCAGGCCGGTTCTTCTCAATCACCTCTCGCAGCCCTTTGGCAAAGTGGAGATCAGCCCCGATGGTGAGGAATCCCTGTGTTGGGGAGAGGGGAGCCTCATTTATTCATTCAGTTATTGAGGCCAGAGTTTAGAGATCAAGAGACAGAGTGTTTGTCTTTCAGGAACTCAATCTAATGGATAATTCCATGTCAAGGTGTTAAAATGAGGCTGTAGGAGTGTAGACTATGGGTGTCAAGGAGGGCTTCTTGGAGGAGGTGACCTCTGAGCTAAGACCTGAACAATTAGTAGGTATTGGGATGGGAGAAGAGTGCTCCAAGAAGTCACAGTGTGTGCAACGGCTTTTAGGAGTCTAAGATTAAAATGGGAGGGGCGACTGGTAATGGGGGAGCTGGGGTCAGGTAATGGAGGGCACTGGGGAGCTATAGAGAGAGGGGAAGGCCCTCCCTCCTTCCCCATCCTGCCCCCACTCACCGCATGGTTCGTCACCACCTCATGCACAAAGTTGATGCCCTCAGGTAGTGGGATCTGCACCCCACGCCAGGTCCGCTCTGTGGGTGGGAGCACCCCGCTCAGTCTGGGCCCGCCCAGTTCACCCCTCCTTTCTTCCTCCATCCTCACACCCCAGCCTTACCATTGAGCATGGGCATCACCCCAATCTGCAGCATGGTCTTCAGAGGGGCCTGTAATGGGATCAGCTGGGAGGGGCGAGGGCGGAAACAGGGCAGTGAGTCAGGGTTGGGTTTGCCTTTAGCTGCCCGCAGGTGAGCAGTTATATGAGGAGGGGGGGATGGTGAGGGTCAGGATCTCACGAACCCAGCCCAGCCCACCCACCCTTCCCCACTCACAGCCAGCGACTCCAGTGCAGAATGGTTGGAATAGATTCGGAACCTGCGGGAAAGAAAGGAGCCCTGTGGGCAGGAAGCCTGGAAGCTCCCCTTCCTCAGGCCACCCAGGCCTACCTGCCAGAGGTGTCTGAGTTGCAGGCTCAGATGCCCACCTAGGCACCTTTCCAAGTGCTACAACTTTCCAGGTATCCTCGGGGCAGTCATTGCTGCCACTTGGGTCTCCTTTTCTCCAAGACTGCTACTTTTTATTTATTGAGCACCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCACG | CTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGCCCTTGAGACTTCCTGTCAGGACAAGGGAAGCTGAAACTCCGAAAGGCGAAGCCCAGGGTCCTGTGATTGGTGGGGTCAGAATTTGAACCTGGGTTTGTCCCCACCCATGCTGTCCTGCTATAGGAGGCCTAGGGGTCTGCATCAGCCACGGAGTCTTAAGGGTGAGAAGAGCTTCATTCATGCCAAAAATGGGCCAGCAGAGGTCCAGGGTGGGAGGAGACCTTGCACAAGGTGATATAGGAAGCACTGGCAGGGCCAAGTTAGGACTAGGTTCTGTCCAGCACAGTGGTTAATAGCATGGGCTCTGGAGTCACATGGCCTGGGTGCAAGTCCCTGTACTAGCCACATAATCTTGGGCAAATTTCTTAAATATGAGCCTCAGGTTCTCCATCTGTAAAATGGGGATAATAATGATATCTACCTTCACAGATAAAACATTTAGTAGAATACTGGACATGCAGTAAGTCGTTAGAAAACATGAAAATTCCCTGGTTCGTGTTATCTAGCTTGGCCCCTTGAATTTCCTGAGGGGTAGGCCTTGAACTAGGGAAGGGCTGGGGACTGGGCTTGTTCCACACCCCTCATTTTTACCCCATCCTGCTTTAGAAATACCAGATCCTATTATATAATGGAGATGTAGACATGGCCTGCAATTTCATGGGGGATGAGTGGTTTGTGGATTCCCTCAACCAGAAGGTAAGGTAGAGATTCCTGGCCCTGGGATAGGGGCTGCTGTGGAGGATTGGGAGCGGGTATGCCTGGGAGTGGCCAGCTGGCTGCCTGGCTCTGGCCCACAGAGGGCAAGTGTGGAGGAATTCCCAGCCCTAAGGTCTTGCTGGTAGCTGTGAGCAAGGATGCAGCTGCTGTAGGCTGATGTCTTTCCTGGTGGGGCAGATGGAGGTGCAGCGCCGGCCCTGGTTAGTGAAGTACGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACATCGCCTTTCTCACGATCGAGGTAGGGACTGGGCCTGCTGAGAGATAACTGGGCCGGAGGCAAAGGAGCAGGACCCACCCGTCCTTTCCCTCTGGCTGCCTTTTAGGCTGGGTCATGGGTCACCATCTGGCCCCTGTATGGGCAAGTTTTTTTGGAGAGGGGTGGGGAGGGTTCTGGGAAGAATAAAGGGTTTGGGATGAAGGAATTGCCCCCGAGTGAGCAGTTATATGGGGAGGAGGGAATGGTGGGGTCAGGAGCTCACGAACATTGCTCCTCAGGGCGCCGGCCACATGGTTCCCACCGACAAGCCCCTCGCTGCCTTCACCATGTTCTCCCGCTTCCTGAACAAGCAGCCATACTGATGACCACAGCAACCAGCTCCACGGCCTGATGCAGCCCCTCCCAGCCTCTCCCGCTAGGAGAGTCCTCTTCTAAGCAAAGTGCCCCTGCAGGCCGGGTTCTGCCGCCAGGACTGCCCCCTTCCCAGAGCCCTGTACATCCCAGACTGGGCCCAGGGTCTCCCATAGACAGCCTGGGGGCAAGTTAGCACTTTATTCCCGCAGCAGTTCCTGAATGGGGTGGCCTGGCCCCTTCTCTGCTTAAAGAATGCCCTTTATGATGCACTGATTCCATCCCAGGAACCCAACAGAGCTCAGGACAGCCCACAGGGAGGTGGTGGACGGACTGTAATTGATAGATTGATTATGGAATTAAATTGGGTACAGCTTCAAATCCCGTCTTCTCTGTGGCACTGGGGGTTAGAGGGGGCACTACAGGCTATGAATGTGGGAAAAGAGGGGCTGAGAGGGGTTGGGGTCCTGAATGACAGCTGCCAGCTTGGGGATTGAGGGCTCAGACAGCTGCTGTGGACGGTGTGGGGGCAGTGGACGCCCTGACATCAGCAGGCCGGTTCTTCTCAATCACCTCTCGCAGCCCTTTGGCAAAGTGGAGATCAGCCCCGATGGTGAGGAATCCCTGTGTTGGGGAGAGGGGAGCCTCATTTATTCATTCAGTTATTGAGGCCAGAGTTTAGAGATCAAGAGACAGAGTGTTTGTCTTTCAGGAACTCAATCTAATGGATAATTCCATGTCAAGGTGTTAAAATGAGGCTGTAGGAGTGTAGACTATGGGTGTCAAGGAGGGCTTCTTGGAGGAGGTGACCTCTGAGCTAAGACCTGAACAATTAGTAGGTATTGGGATGGGAGAAGAGTGCTCCAAGAAGTCACAGTGTGTGCAACGGCTTTTAGGAGTCTAAGATTAAAATGGGAGGGGCGACTGGTAATGGGGGAGCTGGGGTCAGGTAATGGAGGGCACTGGGGAGCTATAGAGAGAGGGGAAGGCCCTCCCTCCTTCCCCATCCTGCCCCCACTCACCGCATGGTTCGTCACCACCTCATGCACAAAGTTGATGCCCTCAGGTAGTGGGATCTGCACCCCACGCCAGGTCCGCTCTGTGGGTGGGAGCACCCCGCTCAGTCTGGGCCCGCCCAGTTCACCCCTCCTTTCTTCCTCCATCCTCACACCCCAGCCTTACCATTGAGCATGGGCATCACCCCAATCTGCAGCATGGTCTTCAGAGGGGCCTGTAATGGGATCAGCTGGGAGGGGCGAGGGCGGAAACAGGGCAGTGAGTCAGGGTTGGGTTTGCCTTTAGCTGCCCGCAGGTGAGCAGTTATATGAGGAGGGGGGGATGGTGAGGGTCAGGATCTCACGAACCCAGCCCAGCCCACCCACCCTTCCCCACTCACAGCCAGCGACTCCAGTGCAGAATGGTTGGAATAGATTCGGAACCTGCGGGAAAGAAAGGAGCCCTGTGGGCAGGAAGCCTGGAAGCTCCCCTTCCTCAGGCCACCCAGGCCTACCTGCCAGAGGTGTCTGAGTTGCAGGCTCAGATGCCCACCTAGGCACCTTTCCAAGTGCTACAACTTTCCAGGTATCCTCGGGGCAGTCATTGCTGCCACTTGGGTCTCCTTTTCTCCAAGACTGCTACTTTTTATTTATTGAGCACCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCACG |
Task1_train_27896 | This genomic variant is located on Chromosome 20, within the ZNF335 (zinc finger protein 335) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | CAGAGCGTGTGCTCCCTAGGGCCCAGGGAGGAAGCAGGTCTGAAGGTGCTTGCTGGGGCTCTCGCTGGTTCAGCCGTCTCTGAACCAGCCACCTCTCTCATTGCCAGGCCTCTGCAGCAAGGGTCTGCCCTGCTGGTGGATCACCGGACTTAACAGGGGCAGGGCAGGACAGGGCACGCTGTGGAGCCAGGCAGCCTCCACCTCACAAGACCTGGCCTGGTACAGGCTACAGCAGCAAGCAGACAAAGTAAGCTGTTCAGGACTGGACTCCGGTCCCTTTATTGAGACTGACAGGCCAGTGGGTCCACCCAAACAAAAATAAATTTCTCTCCCAAAGCCTGCCTGCAGGCTGGGGCACCCAGCATGTCCTGGCTGGGGCCCATGGCTGCCCCTAACCCCAACAGCACAGGTCTGGCTCCCTGGGAATGAGAGGATGCTGGCTATCCAGTATCTGGAGATCCTAAATGAAGAGGGAGGTGAGTCCTGGTGGCCCCCTACCCCCAGGAGAGCTGGCCGCAAATCCATGATCTGTGTTGGGCCCTCGGGGCTCAGTCATCGGCCAGGGTGATGACGTCGTACTCGATGCCCTGGTGCTGCAGCTGTTGAATGTGTTCGGGCACTGTCTCGTCTGTACCAAACAGGCCCTGGGCTTGGGCCATGGCAGCATCAGCCACTGCTGCCAGGGGAGGGGAAAGTATGGTGAGCTGGAGGCTCAAGAGCTGGGTCCATACCCAGCCCCATGCTCCTCAGGATCCAGCTCCATACCTGTGACAGCTGAGTGTGCTGCAGCCTCAAGTTGAGCCTGTGTGACAAGCTGCTGGCCTGGGGACACAGGCACATACTGGATCTGGAGGGGAGAAGCTGATAAGATGCTGGCCTGGAGAAACCTGCCTGTGCCCCAGGTCTCCCTGTCCCCCCACGGCCCTACCTGGGACTCCTGAAGGAACGGGGCTCCTTGTTCATACTGGATGTGTGTGATCTGGCCCTCCTGTACCTGCAGAGAGGAAGCCAAGCTGTGATCCTAGGGAGAGGTCATGCAGCCCTTCACCACACAGCACCCTCATCCCAGGTCTGGCCTACCTGGATGTGATGGCCTTCAGGGACCACAACATATTCCTGGGGGAGCAGGTGCTGGACACCATCCTGGGAGATGATATACTGCACCTGTTGGTGGGGGGGGCGGGCATGGCGAGGCAGGTGCTGAGGCCCCACTCGCCAGGAGCTTAGCTAAGAAGGCAGAGTGGAAGACTAGGAACAGCCACCAGCAACAATGCAGTTGTTGGCAAGCATGGACCCCAGGAGGGGTGGTTTGGAAAGTATCATTCCTCCCCAAGGTAGGTCTTTGGGAGGGTAGGAGGTCACAGCTGAGGGGATTAACAGTAGCTAGTAGCTCACCTGGTTGTCGGAGGTCACCAGGTGCTGTACGGTCTGGCCATCTGCCGTGGTGATCTCTTGGATGTAGGCGGCTTCCTCCTGCCAGGACCAAGACAGCTCTAGCCTCATTTCTCTACCCCAACCCCTGCCTGTCGCTGGCCAGAGGGCCCCCAGTCCTGACTCTTACCTGATTGGTCACTGTCTGTTCCTGGGCAACGATGATGTGTTCCTGGCTCAGTGCCTGCTGTAGCCGCTCTGGGCCCAGGACCCCGTGACTGGACTGGAGTGCAGCTGGGCAGAGAGGAGAGGATGCTCACCTGGGGTCCAGGAAAACCTGCAATGCCCCAGCTGCTACTGTACCCAGTGGTGCCTTTTGGGGCAGTGGCCCAAGTCTCTGGATCTACCCTGTTGCCCACCCTGTGGCCCCAGGGGCAGCTCACTGTGCAGGGTGGCCAGTGTTTCGTCATCACTGTTCAGGATGATGGTCTGGGTTGGGGTCTGGGTAGGGGCCCGGGCTGTAGGGGTTCCTGACTTCCTCCCATCAGGACTGTGCAGCCGCTGGATGTGGAACTTGAGGTGCCCGTTACGGTTGAAACTGAGGGGGATGAAAGGTGGCTCAGGTTAGCTCCACCATACATGCCCAGCAGTCCCCACCCACCAGTATCTGGCCTCACCGCTGCCCGCAGAGGTGGCATGCAAAAGGCTTCTCCTTTGTGTGAGTCAGCATGTGCCGACGCAGGTCCTTCTTGTTCTTGGAGGCAAAGCTGCACTGGCTACACTGGTGGGGCCGTAGGCTTGAGTGCTGTGCCATGTGCGCCTGCAGAGAGGGCAGAGTTGGGGGCATTGGCTGGGTCAGGACAGATGGCAACAAATCCCCGGATCCCTGCTGACAGCTGGTCAGGGAACCAGACAAAGTGGACCTGGGAAAACCAAAATCCTGTGCACTAACAAGAAGCTGGGTAGAAAGGCCAAGCCGGATCCGTATCTGGTGCTGCTGTGTCCTAAGAATGAAAGGCCATAGATTCCATCATTATTAGGTAAATTGGAAAATCTCACTTTACCCATATGTAACACAGGTGTTAGATGAGGGGACCTGTGCAGGTCCCATCGGGCCCTGAATTTTTTTTTTTTGAGACAGTTTTGCTCTTGTTGCCCAGAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAGTTGCAGGGATTACTGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGTTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATAAGAGGTGTGAGCCACCGTGCCCGGCCCTGGCCCTGATTTTCTAGGGCTGAGGCCTGATAGGGCGTTCACCTCTGCACTGTAGGGTGGGGCTCTAGGCCCTGCTTCCCTCTCCAACCTCTGGAGAGGATGCAGTGCATGACTGGATCTGAAAACAAAATCCTCAGGCAAACAGGGAGGCCCCAAGCTGGGCTGTGAACCTGCCCCAGAACTGGCCCACTCACCTTCTCCATGGTGGCTCCCCAACCACCTCGAACCTCTGTGCCCTCAGTATTCTAGACCAGTGGTCCCCACCCTTTTTGGCACCAGGGACTGGTTTTATGGGAGATAACTGTTTCACGGCATGTGCAGGGTGATAGTTTTGGGATGAAGTTGTTGCACCTCAGTTCATCAGATATTAGTTAGATTCTTAGAAGGAGTGTGTGACCTAGATTACTCGTATGCACAGTTCACAATGGGGCTGTGCTCCTGAGACTAATGCAGCTGCTGTGACAGGAAGTGGAGCTCAGGCAGTAGTGCTTGCCCACCTGCCGCTCACCTGCTGTGTGGCCTGGTTCCTAACAGGCCATGGATGACTACCAGTCTATGGCCCAGGGGTTGGGCACCCCTGTTCTAGACGTTCGAGTCTCCCTAGCCATGCCTCTGTCACACACTTCTGTGCCTTTGCTCCTAGAGGCCCAGCTTGGCCATCCCTTCTGTGGCATTTTCCCCAGCACACACAAGTTCAAATGACCTGCTCTGTGTCCTGCACCCTTGGTTCACACTCGGGACACTGTGTCTGGCATTAGTCACGTTGTGTGTGGTTTGCCTCCCCACCAGACCAACTCCCTGAGAGCTGGGACCTTGCGGAGTCATCTCTGACCCATCTCATCCACTCAGAGGAGAGCAGAGGATCTGGCTTGAAAGGGCACTCATTAAAGGTTTGTTATACAAACGAGTAGCCCAATGAATGACAGCAGAGACACAGGAGCAACCAGCACCTACCCGGACCTCGGGCCACTGGCGGGCACTGAAGGGGCAGTCGGGGCACTTGAAGGCACCAGGCCCAGCGTGGGCCCGCTTGTGACTCTCCATCTCAGCTCGGCCAGGGAAGGCCTCGGCACAGATCTTGCAGGAAAACTTCTTTGATGCAGCAGTGGCTGCAGATGGCGGTGACGGGGGCACTGCCAGGCCCAGGGCTTTGCTGGTTGCAGGAGGTGAGGAGGCAGAGCTCTGGGAGTCCCCTACGCAGTGGGTCTTGGCTGGAGATGGGGGCTCAGGGCCGTCTCTGGGCAGTCCCCCACACTGCAGCAGGGGCCATTTGGCACCAGAGGCCAGAGCATCTGGACTTGGGAAGGA | CAGAGCGTGTGCTCCCTAGGGCCCAGGGAGGAAGCAGGTCTGAAGGTGCTTGCTGGGGCTCTCGCTGGTTCAGCCGTCTCTGAACCAGCCACCTCTCTCATTGCCAGGCCTCTGCAGCAAGGGTCTGCCCTGCTGGTGGATCACCGGACTTAACAGGGGCAGGGCAGGACAGGGCACGCTGTGGAGCCAGGCAGCCTCCACCTCACAAGACCTGGCCTGGTACAGGCTACAGCAGCAAGCAGACAAAGTAAGCTGTTCAGGACTGGACTCCGGTCCCTTTATTGAGACTGACAGGCCAGTGGGTCCACCCAAACAAAAATAAATTTCTCTCCCAAAGCCTGCCTGCAGGCTGGGGCACCCAGCATGTCCTGGCTGGGGCCCATGGCTGCCCCTAACCCCAACAGCACAGGTCTGGCTCCCTGGGAATGAGAGGATGCTGGCTATCCAGTATCTGGAGATCCTAAATGAAGAGGGAGGTGAGTCCTGGTGGCCCCCTACCCCCAGGAGAGCTGGCCGCAAATCCATGATCTGTGTTGGGCCCTCGGGGCTCAGTCATCGGCCAGGGTGATGACGTCGTACTCGATGCCCTGGTGCTGCAGCTGTTGAATGTGTTCGGGCACTGTCTCGTCTGTACCAAACAGGCCCTGGGCTTGGGCCATGGCAGCATCAGCCACTGCTGCCAGGGGAGGGGAAAGTATGGTGAGCTGGAGGCTCAAGAGCTGGGTCCATACCCAGCCCCATGCTCCTCAGGATCCAGCTCCATACCTGTGACAGCTGAGTGTGCTGCAGCCTCAAGTTGAGCCTGTGTGACAAGCTGCTGGCCTGGGGACACAGGCACATACTGGATCTGGAGGGGAGAAGCTGATAAGATGCTGGCCTGGAGAAACCTGCCTGTGCCCCAGGTCTCCCTGTCCCCCCACGGCCCTACCTGGGACTCCTGAAGGAACGGGGCTCCTTGTTCATACTGGATGTGTGTGATCTGGCCCTCCTGTACCTGCAGAGAGGAAGCCAAGCTGTGATCCTAGGGAGAGGTCATGCAGCCCTTCACCACACAGCACCCTCATCCCAGGTCTGGCCTACCTGGATGTGATGGCCTTCAGGGACCACAACATATTCCTGGGGGAGCAGGTGCTGGACACCATCCTGGGAGATGATATACTGCACCTGTTGGTGGGGGGGGCGGGCATGGCGAGGCAGGTGCTGAGGCCCCACTCGCCAGGAGCTTAGCTAAGAAGGCAGAGTGGAAGACTAGGAACAGCCACCAGCAACAATGCAGTTGTTGGCAAGCATGGACCCCAGGAGGGGTGGTTTGGAAAGTATCATTCCTCCCCAAGGTAGGTCTTTGGGAGGGTAGGAGGTCACAGCTGAGGGGATTAACAGTAGCTAGTAGCTCACCTGGTTGTCGGAGGTCACCAGGTGCTGTACGGTCTGGCCATCTGCCGTGGTGATCTCTTGGATGTAGGCGGCTTCCTCCTGCCAGGACCAAGACAGCTCTAGCCTCATTTCTCTACCCCAACCCCTGCCTGTCGCTGGCCAGAGGGCCCCCAGTCCTGACTCTTACCTGATTGGTCACTGTCTGTTCCTGGGCAACGATGATGTGTTCCTGGCTCAGTGCCTGCTGTAGCCGCTCTGGGCCCAGGACCCCGTGACTGGACTGGAGTGCAGCTGGGCAGAGAGGAGAGGATGCTCACCTGGGGTCCAGGAAAACCTGCAATGCCCCAGCTGCTACTGTACCCAGTGGTGCCTTTTGGGGCAGTGGCCCAAGTCTCTGGATCTACCCTGTTGCCCACCCTGTGGCCCCAGGGGCAGCTCACTGTGCAGGGTGGCCAGTGTTTCGTCATCACTGTTCAGGATGATGGTCTGGGTTGGGGTCTGGGTAGGGGCCCGGGCTGTAGGGGTTCCTGACTTCCTCCCATCAGGACTGTGCAGCCGCTGGATGTGGAACTTGAGGTGCCCGTTACGGTTGAAACTGAGGGGGATGAAAGGTGGCTCAGGTTAGCTCCACCATACATGCCCAGCAGTCCCCACCCACCAGTATCTGGCCTCACAGCTGCCCGCAGAGGTGGCATGCAAAAGGCTTCTCCTTTGTGTGAGTCAGCATGTGCCGACGCAGGTCCTTCTTGTTCTTGGAGGCAAAGCTGCACTGGCTACACTGGTGGGGCCGTAGGCTTGAGTGCTGTGCCATGTGCGCCTGCAGAGAGGGCAGAGTTGGGGGCATTGGCTGGGTCAGGACAGATGGCAACAAATCCCCGGATCCCTGCTGACAGCTGGTCAGGGAACCAGACAAAGTGGACCTGGGAAAACCAAAATCCTGTGCACTAACAAGAAGCTGGGTAGAAAGGCCAAGCCGGATCCGTATCTGGTGCTGCTGTGTCCTAAGAATGAAAGGCCATAGATTCCATCATTATTAGGTAAATTGGAAAATCTCACTTTACCCATATGTAACACAGGTGTTAGATGAGGGGACCTGTGCAGGTCCCATCGGGCCCTGAATTTTTTTTTTTTGAGACAGTTTTGCTCTTGTTGCCCAGAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAGTTGCAGGGATTACTGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGTTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATAAGAGGTGTGAGCCACCGTGCCCGGCCCTGGCCCTGATTTTCTAGGGCTGAGGCCTGATAGGGCGTTCACCTCTGCACTGTAGGGTGGGGCTCTAGGCCCTGCTTCCCTCTCCAACCTCTGGAGAGGATGCAGTGCATGACTGGATCTGAAAACAAAATCCTCAGGCAAACAGGGAGGCCCCAAGCTGGGCTGTGAACCTGCCCCAGAACTGGCCCACTCACCTTCTCCATGGTGGCTCCCCAACCACCTCGAACCTCTGTGCCCTCAGTATTCTAGACCAGTGGTCCCCACCCTTTTTGGCACCAGGGACTGGTTTTATGGGAGATAACTGTTTCACGGCATGTGCAGGGTGATAGTTTTGGGATGAAGTTGTTGCACCTCAGTTCATCAGATATTAGTTAGATTCTTAGAAGGAGTGTGTGACCTAGATTACTCGTATGCACAGTTCACAATGGGGCTGTGCTCCTGAGACTAATGCAGCTGCTGTGACAGGAAGTGGAGCTCAGGCAGTAGTGCTTGCCCACCTGCCGCTCACCTGCTGTGTGGCCTGGTTCCTAACAGGCCATGGATGACTACCAGTCTATGGCCCAGGGGTTGGGCACCCCTGTTCTAGACGTTCGAGTCTCCCTAGCCATGCCTCTGTCACACACTTCTGTGCCTTTGCTCCTAGAGGCCCAGCTTGGCCATCCCTTCTGTGGCATTTTCCCCAGCACACACAAGTTCAAATGACCTGCTCTGTGTCCTGCACCCTTGGTTCACACTCGGGACACTGTGTCTGGCATTAGTCACGTTGTGTGTGGTTTGCCTCCCCACCAGACCAACTCCCTGAGAGCTGGGACCTTGCGGAGTCATCTCTGACCCATCTCATCCACTCAGAGGAGAGCAGAGGATCTGGCTTGAAAGGGCACTCATTAAAGGTTTGTTATACAAACGAGTAGCCCAATGAATGACAGCAGAGACACAGGAGCAACCAGCACCTACCCGGACCTCGGGCCACTGGCGGGCACTGAAGGGGCAGTCGGGGCACTTGAAGGCACCAGGCCCAGCGTGGGCCCGCTTGTGACTCTCCATCTCAGCTCGGCCAGGGAAGGCCTCGGCACAGATCTTGCAGGAAAACTTCTTTGATGCAGCAGTGGCTGCAGATGGCGGTGACGGGGGCACTGCCAGGCCCAGGGCTTTGCTGGTTGCAGGAGGTGAGGAGGCAGAGCTCTGGGAGTCCCCTACGCAGTGGGTCTTGGCTGGAGATGGGGGCTCAGGGCCGTCTCTGGGCAGTCCCCCACACTGCAGCAGGGGCCATTTGGCACCAGAGGCCAGAGCATCTGGACTTGGGAAGGA |
Task1_train_27897 | A mutation in ZNF335 (zinc finger protein 335), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Microcephalic primordial dwarfism due to ZNF335 deficiency | CAGAGCGTGTGCTCCCTAGGGCCCAGGGAGGAAGCAGGTCTGAAGGTGCTTGCTGGGGCTCTCGCTGGTTCAGCCGTCTCTGAACCAGCCACCTCTCTCATTGCCAGGCCTCTGCAGCAAGGGTCTGCCCTGCTGGTGGATCACCGGACTTAACAGGGGCAGGGCAGGACAGGGCACGCTGTGGAGCCAGGCAGCCTCCACCTCACAAGACCTGGCCTGGTACAGGCTACAGCAGCAAGCAGACAAAGTAAGCTGTTCAGGACTGGACTCCGGTCCCTTTATTGAGACTGACAGGCCAGTGGGTCCACCCAAACAAAAATAAATTTCTCTCCCAAAGCCTGCCTGCAGGCTGGGGCACCCAGCATGTCCTGGCTGGGGCCCATGGCTGCCCCTAACCCCAACAGCACAGGTCTGGCTCCCTGGGAATGAGAGGATGCTGGCTATCCAGTATCTGGAGATCCTAAATGAAGAGGGAGGTGAGTCCTGGTGGCCCCCTACCCCCAGGAGAGCTGGCCGCAAATCCATGATCTGTGTTGGGCCCTCGGGGCTCAGTCATCGGCCAGGGTGATGACGTCGTACTCGATGCCCTGGTGCTGCAGCTGTTGAATGTGTTCGGGCACTGTCTCGTCTGTACCAAACAGGCCCTGGGCTTGGGCCATGGCAGCATCAGCCACTGCTGCCAGGGGAGGGGAAAGTATGGTGAGCTGGAGGCTCAAGAGCTGGGTCCATACCCAGCCCCATGCTCCTCAGGATCCAGCTCCATACCTGTGACAGCTGAGTGTGCTGCAGCCTCAAGTTGAGCCTGTGTGACAAGCTGCTGGCCTGGGGACACAGGCACATACTGGATCTGGAGGGGAGAAGCTGATAAGATGCTGGCCTGGAGAAACCTGCCTGTGCCCCAGGTCTCCCTGTCCCCCCACGGCCCTACCTGGGACTCCTGAAGGAACGGGGCTCCTTGTTCATACTGGATGTGTGTGATCTGGCCCTCCTGTACCTGCAGAGAGGAAGCCAAGCTGTGATCCTAGGGAGAGGTCATGCAGCCCTTCACCACACAGCACCCTCATCCCAGGTCTGGCCTACCTGGATGTGATGGCCTTCAGGGACCACAACATATTCCTGGGGGAGCAGGTGCTGGACACCATCCTGGGAGATGATATACTGCACCTGTTGGTGGGGGGGGCGGGCATGGCGAGGCAGGTGCTGAGGCCCCACTCGCCAGGAGCTTAGCTAAGAAGGCAGAGTGGAAGACTAGGAACAGCCACCAGCAACAATGCAGTTGTTGGCAAGCATGGACCCCAGGAGGGGTGGTTTGGAAAGTATCATTCCTCCCCAAGGTAGGTCTTTGGGAGGGTAGGAGGTCACAGCTGAGGGGATTAACAGTAGCTAGTAGCTCACCTGGTTGTCGGAGGTCACCAGGTGCTGTACGGTCTGGCCATCTGCCGTGGTGATCTCTTGGATGTAGGCGGCTTCCTCCTGCCAGGACCAAGACAGCTCTAGCCTCATTTCTCTACCCCAACCCCTGCCTGTCGCTGGCCAGAGGGCCCCCAGTCCTGACTCTTACCTGATTGGTCACTGTCTGTTCCTGGGCAACGATGATGTGTTCCTGGCTCAGTGCCTGCTGTAGCCGCTCTGGGCCCAGGACCCCGTGACTGGACTGGAGTGCAGCTGGGCAGAGAGGAGAGGATGCTCACCTGGGGTCCAGGAAAACCTGCAATGCCCCAGCTGCTACTGTACCCAGTGGTGCCTTTTGGGGCAGTGGCCCAAGTCTCTGGATCTACCCTGTTGCCCACCCTGTGGCCCCAGGGGCAGCTCACTGTGCAGGGTGGCCAGTGTTTCGTCATCACTGTTCAGGATGATGGTCTGGGTTGGGGTCTGGGTAGGGGCCCGGGCTGTAGGGGTTCCTGACTTCCTCCCATCAGGACTGTGCAGCCGCTGGATGTGGAACTTGAGGTGCCCGTTACGGTTGAAACTGAGGGGGATGAAAGGTGGCTCAGGTTAGCTCCACCATACATGCCCAGCAGTCCCCACCCACCAGTATCTGGCCTCACCGCTGCCCGCAGAGGTGGCATGCAAAAGGCTTCTCCTTTGTGTGAGTCAGCATGTGCCGACGCAGGTCCTTCTTGTTCTTGGAGGCAAAGCTGCACTGGCTACACTGGTGGGGCCGTAGGCTTGAGTGCTGTGCCATGTGCGCCTGCAGAGAGGGCAGAGTTGGGGGCATTGGCTGGGTCAGGACAGATGGCAACAAATCCCCGGATCCCTGCTGACAGCTGGTCAGGGAACCAGACAAAGTGGACCTGGGAAAACCAAAATCCTGTGCACTAACAAGAAGCTGGGTAGAAAGGCCAAGCCGGATCCGTATCTGGTGCTGCTGTGTCCTAAGAATGAAAGGCCATAGATTCCATCATTATTAGGTAAATTGGAAAATCTCACTTTACCCATATGTAACACAGGTGTTAGATGAGGGGACCTGTGCAGGTCCCATCGGGCCCTGAATTTTTTTTTTTTGAGACAGTTTTGCTCTTGTTGCCCAGAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAGTTGCAGGGATTACTGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGTTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATAAGAGGTGTGAGCCACCGTGCCCGGCCCTGGCCCTGATTTTCTAGGGCTGAGGCCTGATAGGGCGTTCACCTCTGCACTGTAGGGTGGGGCTCTAGGCCCTGCTTCCCTCTCCAACCTCTGGAGAGGATGCAGTGCATGACTGGATCTGAAAACAAAATCCTCAGGCAAACAGGGAGGCCCCAAGCTGGGCTGTGAACCTGCCCCAGAACTGGCCCACTCACCTTCTCCATGGTGGCTCCCCAACCACCTCGAACCTCTGTGCCCTCAGTATTCTAGACCAGTGGTCCCCACCCTTTTTGGCACCAGGGACTGGTTTTATGGGAGATAACTGTTTCACGGCATGTGCAGGGTGATAGTTTTGGGATGAAGTTGTTGCACCTCAGTTCATCAGATATTAGTTAGATTCTTAGAAGGAGTGTGTGACCTAGATTACTCGTATGCACAGTTCACAATGGGGCTGTGCTCCTGAGACTAATGCAGCTGCTGTGACAGGAAGTGGAGCTCAGGCAGTAGTGCTTGCCCACCTGCCGCTCACCTGCTGTGTGGCCTGGTTCCTAACAGGCCATGGATGACTACCAGTCTATGGCCCAGGGGTTGGGCACCCCTGTTCTAGACGTTCGAGTCTCCCTAGCCATGCCTCTGTCACACACTTCTGTGCCTTTGCTCCTAGAGGCCCAGCTTGGCCATCCCTTCTGTGGCATTTTCCCCAGCACACACAAGTTCAAATGACCTGCTCTGTGTCCTGCACCCTTGGTTCACACTCGGGACACTGTGTCTGGCATTAGTCACGTTGTGTGTGGTTTGCCTCCCCACCAGACCAACTCCCTGAGAGCTGGGACCTTGCGGAGTCATCTCTGACCCATCTCATCCACTCAGAGGAGAGCAGAGGATCTGGCTTGAAAGGGCACTCATTAAAGGTTTGTTATACAAACGAGTAGCCCAATGAATGACAGCAGAGACACAGGAGCAACCAGCACCTACCCGGACCTCGGGCCACTGGCGGGCACTGAAGGGGCAGTCGGGGCACTTGAAGGCACCAGGCCCAGCGTGGGCCCGCTTGTGACTCTCCATCTCAGCTCGGCCAGGGAAGGCCTCGGCACAGATCTTGCAGGAAAACTTCTTTGATGCAGCAGTGGCTGCAGATGGCGGTGACGGGGGCACTGCCAGGCCCAGGGCTTTGCTGGTTGCAGGAGGTGAGGAGGCAGAGCTCTGGGAGTCCCCTACGCAGTGGGTCTTGGCTGGAGATGGGGGCTCAGGGCCGTCTCTGGGCAGTCCCCCACACTGCAGCAGGGGCCATTTGGCACCAGAGGCCAGAGCATCTGGACTTGGGAAGGA | CAGAGCGTGTGCTCCCTAGGGCCCAGGGAGGAAGCAGGTCTGAAGGTGCTTGCTGGGGCTCTCGCTGGTTCAGCCGTCTCTGAACCAGCCACCTCTCTCATTGCCAGGCCTCTGCAGCAAGGGTCTGCCCTGCTGGTGGATCACCGGACTTAACAGGGGCAGGGCAGGACAGGGCACGCTGTGGAGCCAGGCAGCCTCCACCTCACAAGACCTGGCCTGGTACAGGCTACAGCAGCAAGCAGACAAAGTAAGCTGTTCAGGACTGGACTCCGGTCCCTTTATTGAGACTGACAGGCCAGTGGGTCCACCCAAACAAAAATAAATTTCTCTCCCAAAGCCTGCCTGCAGGCTGGGGCACCCAGCATGTCCTGGCTGGGGCCCATGGCTGCCCCTAACCCCAACAGCACAGGTCTGGCTCCCTGGGAATGAGAGGATGCTGGCTATCCAGTATCTGGAGATCCTAAATGAAGAGGGAGGTGAGTCCTGGTGGCCCCCTACCCCCAGGAGAGCTGGCCGCAAATCCATGATCTGTGTTGGGCCCTCGGGGCTCAGTCATCGGCCAGGGTGATGACGTCGTACTCGATGCCCTGGTGCTGCAGCTGTTGAATGTGTTCGGGCACTGTCTCGTCTGTACCAAACAGGCCCTGGGCTTGGGCCATGGCAGCATCAGCCACTGCTGCCAGGGGAGGGGAAAGTATGGTGAGCTGGAGGCTCAAGAGCTGGGTCCATACCCAGCCCCATGCTCCTCAGGATCCAGCTCCATACCTGTGACAGCTGAGTGTGCTGCAGCCTCAAGTTGAGCCTGTGTGACAAGCTGCTGGCCTGGGGACACAGGCACATACTGGATCTGGAGGGGAGAAGCTGATAAGATGCTGGCCTGGAGAAACCTGCCTGTGCCCCAGGTCTCCCTGTCCCCCCACGGCCCTACCTGGGACTCCTGAAGGAACGGGGCTCCTTGTTCATACTGGATGTGTGTGATCTGGCCCTCCTGTACCTGCAGAGAGGAAGCCAAGCTGTGATCCTAGGGAGAGGTCATGCAGCCCTTCACCACACAGCACCCTCATCCCAGGTCTGGCCTACCTGGATGTGATGGCCTTCAGGGACCACAACATATTCCTGGGGGAGCAGGTGCTGGACACCATCCTGGGAGATGATATACTGCACCTGTTGGTGGGGGGGGCGGGCATGGCGAGGCAGGTGCTGAGGCCCCACTCGCCAGGAGCTTAGCTAAGAAGGCAGAGTGGAAGACTAGGAACAGCCACCAGCAACAATGCAGTTGTTGGCAAGCATGGACCCCAGGAGGGGTGGTTTGGAAAGTATCATTCCTCCCCAAGGTAGGTCTTTGGGAGGGTAGGAGGTCACAGCTGAGGGGATTAACAGTAGCTAGTAGCTCACCTGGTTGTCGGAGGTCACCAGGTGCTGTACGGTCTGGCCATCTGCCGTGGTGATCTCTTGGATGTAGGCGGCTTCCTCCTGCCAGGACCAAGACAGCTCTAGCCTCATTTCTCTACCCCAACCCCTGCCTGTCGCTGGCCAGAGGGCCCCCAGTCCTGACTCTTACCTGATTGGTCACTGTCTGTTCCTGGGCAACGATGATGTGTTCCTGGCTCAGTGCCTGCTGTAGCCGCTCTGGGCCCAGGACCCCGTGACTGGACTGGAGTGCAGCTGGGCAGAGAGGAGAGGATGCTCACCTGGGGTCCAGGAAAACCTGCAATGCCCCAGCTGCTACTGTACCCAGTGGTGCCTTTTGGGGCAGTGGCCCAAGTCTCTGGATCTACCCTGTTGCCCACCCTGTGGCCCCAGGGGCAGCTCACTGTGCAGGGTGGCCAGTGTTTCGTCATCACTGTTCAGGATGATGGTCTGGGTTGGGGTCTGGGTAGGGGCCCGGGCTGTAGGGGTTCCTGACTTCCTCCCATCAGGACTGTGCAGCCGCTGGATGTGGAACTTGAGGTGCCCGTTACGGTTGAAACTGAGGGGGATGAAAGGTGGCTCAGGTTAGCTCCACCATACATGCCCAGCAGTCCCCACCCACCAGTATCTGGCCTCACTGCTGCCCGCAGAGGTGGCATGCAAAAGGCTTCTCCTTTGTGTGAGTCAGCATGTGCCGACGCAGGTCCTTCTTGTTCTTGGAGGCAAAGCTGCACTGGCTACACTGGTGGGGCCGTAGGCTTGAGTGCTGTGCCATGTGCGCCTGCAGAGAGGGCAGAGTTGGGGGCATTGGCTGGGTCAGGACAGATGGCAACAAATCCCCGGATCCCTGCTGACAGCTGGTCAGGGAACCAGACAAAGTGGACCTGGGAAAACCAAAATCCTGTGCACTAACAAGAAGCTGGGTAGAAAGGCCAAGCCGGATCCGTATCTGGTGCTGCTGTGTCCTAAGAATGAAAGGCCATAGATTCCATCATTATTAGGTAAATTGGAAAATCTCACTTTACCCATATGTAACACAGGTGTTAGATGAGGGGACCTGTGCAGGTCCCATCGGGCCCTGAATTTTTTTTTTTTGAGACAGTTTTGCTCTTGTTGCCCAGAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCAAGTTGCAGGGATTACTGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGTTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATAAGAGGTGTGAGCCACCGTGCCCGGCCCTGGCCCTGATTTTCTAGGGCTGAGGCCTGATAGGGCGTTCACCTCTGCACTGTAGGGTGGGGCTCTAGGCCCTGCTTCCCTCTCCAACCTCTGGAGAGGATGCAGTGCATGACTGGATCTGAAAACAAAATCCTCAGGCAAACAGGGAGGCCCCAAGCTGGGCTGTGAACCTGCCCCAGAACTGGCCCACTCACCTTCTCCATGGTGGCTCCCCAACCACCTCGAACCTCTGTGCCCTCAGTATTCTAGACCAGTGGTCCCCACCCTTTTTGGCACCAGGGACTGGTTTTATGGGAGATAACTGTTTCACGGCATGTGCAGGGTGATAGTTTTGGGATGAAGTTGTTGCACCTCAGTTCATCAGATATTAGTTAGATTCTTAGAAGGAGTGTGTGACCTAGATTACTCGTATGCACAGTTCACAATGGGGCTGTGCTCCTGAGACTAATGCAGCTGCTGTGACAGGAAGTGGAGCTCAGGCAGTAGTGCTTGCCCACCTGCCGCTCACCTGCTGTGTGGCCTGGTTCCTAACAGGCCATGGATGACTACCAGTCTATGGCCCAGGGGTTGGGCACCCCTGTTCTAGACGTTCGAGTCTCCCTAGCCATGCCTCTGTCACACACTTCTGTGCCTTTGCTCCTAGAGGCCCAGCTTGGCCATCCCTTCTGTGGCATTTTCCCCAGCACACACAAGTTCAAATGACCTGCTCTGTGTCCTGCACCCTTGGTTCACACTCGGGACACTGTGTCTGGCATTAGTCACGTTGTGTGTGGTTTGCCTCCCCACCAGACCAACTCCCTGAGAGCTGGGACCTTGCGGAGTCATCTCTGACCCATCTCATCCACTCAGAGGAGAGCAGAGGATCTGGCTTGAAAGGGCACTCATTAAAGGTTTGTTATACAAACGAGTAGCCCAATGAATGACAGCAGAGACACAGGAGCAACCAGCACCTACCCGGACCTCGGGCCACTGGCGGGCACTGAAGGGGCAGTCGGGGCACTTGAAGGCACCAGGCCCAGCGTGGGCCCGCTTGTGACTCTCCATCTCAGCTCGGCCAGGGAAGGCCTCGGCACAGATCTTGCAGGAAAACTTCTTTGATGCAGCAGTGGCTGCAGATGGCGGTGACGGGGGCACTGCCAGGCCCAGGGCTTTGCTGGTTGCAGGAGGTGAGGAGGCAGAGCTCTGGGAGTCCCCTACGCAGTGGGTCTTGGCTGGAGATGGGGGCTCAGGGCCGTCTCTGGGCAGTCCCCCACACTGCAGCAGGGGCCATTTGGCACCAGAGGCCAGAGCATCTGGACTTGGGAAGGA |
Task1_train_27898 | The gene ZNF335 (zinc finger protein 335), on Chromosome 20, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Microcephalic primordial dwarfism due to ZNF335 deficiency | GTGAACCTACACTAATCTTACTTAGCCACAGAACCTTTTTTTTTTTTTTTTTTCATTTAAAAAAAAGAAACCTTAAAGTATCTTGGGCTGGCTTTTCCACACACACAGCTGGAGCTACTGTCCCAGGGGATCTGTCTCCAACCTCTGCTCACACACCACCTCTCATGAAGCGAACTCCTTCCTGAAGCTCGGGATCGAATTATAATCCTGTGAGCAATCATTAGGTGCATAAGAACTTGTGTTTCTCTGTCTCAGGTGCACTCTCAGCCCTGTGAGAGATGAGTAGGATCTGGAGTCCAGAAGATCTTGGATCATTTACTGAACTCCTTTAGGTACACAATTTCCTTCAATCCCTTCAACAACTGTCCCCGTTTGATGAGAAACTAAAGCTCACAAGAGGTAAGAGGCTGAGCTGGGGACCTCAAGGCCTGGTACTGTCCTGTTCTAAGCCAAATGAACTGGGGTGAACTGCCTTTCTGCTCATGCCTGTAGTGTGCAGCAAATGGGGCTGGCTCAGAGCAGGAGCACGGTAAGTGGGAACCATGGTTATCCCGGGCCTCCACTTCCCCACCCAACCTGGCCTCTCTTGCCCAGGTCCCTCCCACCCCCACACTGACCGGTCCCGGCTGTGCACAGCGGCGTGCCGAATGACGTCCTTCCGGTAGACACTGGTGTAGCTGCACTCGTCACACTTGTAGGGCTTGCTGCCCACGTGGTTGAACATGTGCTCCTGGGAGACAGACAAAAGGATGGTGGGCTGGGGCTTGGCCTCCTCTCCCATCCCCGTCCCCACCATGCCTGTGGCCACAGTCTTAGGGTTGCTGCGGGAGCAGCTCACAGAACACAGGCATGTGGACAACACACCCCGACGCAAGGGTCAAAACCTAGGAAGGCCCGGGGACTGTCCCCAGCGAGAGCACCCACTCTGTGCCAGGCTCTGTGCTGGCTCACAACTTGACAAAGAAGGAACCTGAGTCTCAGGGTGGAGGGACCTTGCGATGGCAGAGCTTGGAGCTGAAGCCAGGCAGCATGGCGCCGCAGCCTCCACCTCTCCCACTGCGTCACGAGACATCTTCTCTGCAGAACCCACATAACAGCCCACAGCACAGCGTGCACAGAGCACAGGGGCTCGCTCTGACCACCGTGCCCGGAAGTACCCTCTCCCACAGCTGCCAACTTGCACATTGGCCAGGCCGAGCCACAGTTTCCTGGGGGTCAGTAGAATGGGACTATGGACACCTACGACCTCATTGGGCTGCAATAAGGATTTAATTATCCAGTTACTGCATAAAAGGCTCAGGGCTGCTGCAGGCCACATGGTAGCTTGTGTTAAGGAGAAAAAGGAACCGTTTTTTTTTTTTTGTTTGTTTGTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCATCCCAAGTAGTTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCGCAAAGTGCTGGGATTACAGGAGCAAGCCACTGCACCTGGCCTAAAAGGAACCCTTTTCTTGAGACACATGACTGCCATCTGCTGGAAATCTTTCTAACACATGGAATCAGATGAAAACAGTTTTATGGCGTCTGTGGTGGTGAAGATATGCTGCCACTGTGCACTGTGCCGCCTGCAAAACCGCCTGTGGCAGCCCTTCCCAGCCCCTCCCCACATTCCCGCAAGCTCTGAGGAGCTGAGCGTTCTTCGGTACGCCAGTGAGCCAGACACGCGTTCTGAAGAGCAGCAGGAGAGCGTGACCCAGAATGCTCTGTGACTCCATTCTCCCTCAGTGGCACCAGCTGGCCTCTGCTTGCCTTCTTCACCCTCCCATGAGCCCCAAGCCTCTTTGGCTCCCGCACCTTGAGCGAGGACCAGCGGCGGGAACGATAGCTGCACTGCAGGCACTTGAAGAGCTGGGGATCGCCAGCCTCATGGGAGTTGACGTGGAAGCGCAGGTCCTCGTGGGACAGAAAGCGAGAACCACAGATGCGGCACAGGAAGGGCCTCAAAAGTGGTTTGGGCGACTTGTAATAGTACCTGCAGGATGAGAGTGTGGCGGAAAGGTCTGGTGGGGTTGGTGGCTTAACCACATGCATGCCCCACCCTCACCTCTGCTCCACATACTTGCGGTATTTCTTGCCTAGGAAGCGCCTGGAAGGTCGACCTCGGCGCCGGGGCAGAGTGTCATGCTCATCCGGGCAGGAGGGGGCTGCGTTCTCTGCATCTGACTGGCTCACACCAGCTTCCACAGGGGTCCTGCTCACCTTGCCCATGGCCACCAGGTGTCCTGGGCCTGAGGAGCTGGGAGCCTCGGGATCCTGTGGCTCTGGAGGGCTCTGTCCACTCTGGGAACTCACTAGAGGCTCTCCTTCCACACCTGCCACGGACATGCCAGGTCACAAGCCAGCCACTGACACACCAGGACAGACGTGGACAAGTGGGCCAGAGGCCAGCCAAAATATCCTCCCACCCACTCATCACAGACCACTGATGGGTGCATTGAGTCACATGACACAGACAGCCTGTGGTTAGAGGGCAGCATGGATACTACCGCCCAACAGCCGACATTCTGTCAGCACAGTAGGACCTGGCCTGGATTAGAGCAACGGCGAGAGCTGGGACCTCCCAGTCAGGAGACCTGGGTTCCAGGCACGGCTCTGTCACTGACATGCTGTGCACCTACAGACAAAGCCATTCCTCTCCCGGAGTCTCATTTGCCCCATTTATCCAAGGGAGGCCAGAATGGCGGCTTTGGTGACTTCACAGAACAATCTAAGGCTCGGGAAGCAATAGGAGTGCTTTAACACTGGCATTCCCCAGGGAGGTCAGGCAGCTGGAGGGCTGATGGGAGGGAAGGAGGGAGATGTGACTTCCATGCTTGCAAACCATTTGGACAATCTAAATCTGTTACCTCTTCAAAAACATTGACAGTATTTAAATATTAAATATGTACTAGACAAATTAACAATACAGACAATGCAGGTAATGTTCTGCTTCTTGACTGGGTTATACAGGTGCTTGGTTACACAGGTGTGTGCACCTTGTGAAAACTCATTGACCTGGGCAGAATATGTGTAACTTTCCATACATATGTGCCTCGGTAAAAAGGCCTTTTTGAAATAGAGACTAAAGAATACAATAGGCCAAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAAAATTAAGTCGGTGTGGTGGTGGGCGCCTGTGATCCCAGTTACTCAGAAGGCTGAGGCACGAGAATTGCTCGAACCTGGGAGACAGGGGTTGCAGTGAGCCGAGATCATGACGCTGCACTCCAGCCCGGGCAAGAGTGAAACTCTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATACAACAACTCTCCAACCATAAACAGCTGCCACTGTACTCTTTTGTGTGTATTTAACCCTTAAGCAATCCTAAAAGGCATGCTGCTATAACCTCCATGCATAAATAAAGGGACTGGAGATTTAAGCTCCAAGTCACACAGACTGCAGGCGGCAGAGCTGGTGCTCACACCACGGCTGGGTCCTTTCTGTCCCCAGCCAGTAATGCTCCGAACCAGGGCTCCTCTGATAGTCCCAGGCCTCAGACTTATTCCTCTCTTCTCATTTCAGTAATATTTAAAACTTATCTTACGCATTCAGTGATAAAGTCCCAAATTTCTCTTTTGCTATGACAAATTGTGGTGAAAGGCATTTCCATAAAGCTGAGAGAGTTTCCTGAGTCAGGGTTTCTTGAGCTTGAGTCTTTGAGGGCTTTCCCCTTTCCCTGGAGGCCTGCAGGTGACCCGGTTTGAGACAGCTGCCCTGCAGGGCACACTCAGTCCC | GTGAACCTACACTAATCTTACTTAGCCACAGAACCTTTTTTTTTTTTTTTTTTCATTTAAAAAAAAGAAACCTTAAAGTATCTTGGGCTGGCTTTTCCACACACACAGCTGGAGCTACTGTCCCAGGGGATCTGTCTCCAACCTCTGCTCACACACCACCTCTCATGAAGCGAACTCCTTCCTGAAGCTCGGGATCGAATTATAATCCTGTGAGCAATCATTAGGTGCATAAGAACTTGTGTTTCTCTGTCTCAGGTGCACTCTCAGCCCTGTGAGAGATGAGTAGGATCTGGAGTCCAGAAGATCTTGGATCATTTACTGAACTCCTTTAGGTACACAATTTCCTTCAATCCCTTCAACAACTGTCCCCGTTTGATGAGAAACTAAAGCTCACAAGAGGTAAGAGGCTGAGCTGGGGACCTCAAGGCCTGGTACTGTCCTGTTCTAAGCCAAATGAACTGGGGTGAACTGCCTTTCTGCTCATGCCTGTAGTGTGCAGCAAATGGGGCTGGCTCAGAGCAGGAGCACGGTAAGTGGGAACCATGGTTATCCCGGGCCTCCACTTCCCCACCCAACCTGGCCTCTCTTGCCCAGGTCCCTCCCACCCCCACACTGACCGGTCCCGGCTGTGCACAGCGGCGTGCCGAATGACGTCCTTCCGGTAGACACTGGTGTAGCTGCACTCGTCACACTTGTAGGGCTTGCTGCCCACGTGGTTGAACATGTGCTCCTGGGAGACAGACAAAAGGATGGTGGGCTGGGGCTTGGCCTCCTCTCCCATCCCCGTCCCCACCATGCCTGTGGCCACAGTCTTAGGGTTGCTGCGGGAGCAGCTCACAGAACACAGGCATGTGGACAACACACCCCGACGCAAGGGTCAAAACCTAGGAAGGCCCGGGGACTGTCCCCAGCGAGAGCACCCACTCTGTGCCAGGCTCTGTGCTGGCTCACAACTTGACAAAGAAGGAACCTGAGTCTCAGGGTGGAGGGACCTTGCGATGGCAGAGCTTGGAGCTGAAGCCAGGCAGCATGGCGCCGCAGCCTCCACCTCTCCCACTGCGTCACGAGACATCTTCTCTGCAGAACCCACATAACAGCCCACAGCACAGCGTGCACAGAGCACAGGGGCTCGCTCTGACCACCGTGCCCGGAAGTACCCTCTCCCACAGCTGCCAACTTGCACATTGGCCAGGCCGAGCCACAGTTTCCTGGGGGTCAGTAGAATGGGACTATGGACACCTACGACCTCATTGGGCTGCAATAAGGATTTAATTATCCAGTTACTGCATAAAAGGCTCAGGGCTGCTGCAGGCCACATGGTAGCTTGTGTTAAGGAGAAAAAGGAACCGTTTTTTTTTTTTTGTTTGTTTGTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCATCCCAAGTAGTTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCGCAAAGTGCTGGGATTACAGGAGCAAGCCACTGCACCTGGCCTAAAAGGAACCCTTTTCTTGAGACACATGACTGCCATCTGCTGGAAATCTTTCTAACACATGGAATCAGATGAAAACAGTTTTATGGCGTCTGTGGTGGTGAAGATATGCTGCCACTGTGCACTGTGCCGCCTGCAAAACCGCCTGTGGCAGCCCTTCCCAGCCCCTCCCCACATTCCCGCAAGCTCTGAGGAGCTGAGCGTTCTTCGGTACGCCAGTGAGCCAGACACGCGTTCTGAAGAGCAGCAGGAGAGCGTGACCCAGAATGCTCTGTGACTCCATTCTCCCTCAGTGGCACCAGCTGGCCTCTGCTTGCCTTCTTCACCCTCCCATGAGCCCCAAGCCTCTTTGGCTCCCGCACCTTGAGCGAGGACCAGCGGCGGGAACGACAGCTGCACTGCAGGCACTTGAAGAGCTGGGGATCGCCAGCCTCATGGGAGTTGACGTGGAAGCGCAGGTCCTCGTGGGACAGAAAGCGAGAACCACAGATGCGGCACAGGAAGGGCCTCAAAAGTGGTTTGGGCGACTTGTAATAGTACCTGCAGGATGAGAGTGTGGCGGAAAGGTCTGGTGGGGTTGGTGGCTTAACCACATGCATGCCCCACCCTCACCTCTGCTCCACATACTTGCGGTATTTCTTGCCTAGGAAGCGCCTGGAAGGTCGACCTCGGCGCCGGGGCAGAGTGTCATGCTCATCCGGGCAGGAGGGGGCTGCGTTCTCTGCATCTGACTGGCTCACACCAGCTTCCACAGGGGTCCTGCTCACCTTGCCCATGGCCACCAGGTGTCCTGGGCCTGAGGAGCTGGGAGCCTCGGGATCCTGTGGCTCTGGAGGGCTCTGTCCACTCTGGGAACTCACTAGAGGCTCTCCTTCCACACCTGCCACGGACATGCCAGGTCACAAGCCAGCCACTGACACACCAGGACAGACGTGGACAAGTGGGCCAGAGGCCAGCCAAAATATCCTCCCACCCACTCATCACAGACCACTGATGGGTGCATTGAGTCACATGACACAGACAGCCTGTGGTTAGAGGGCAGCATGGATACTACCGCCCAACAGCCGACATTCTGTCAGCACAGTAGGACCTGGCCTGGATTAGAGCAACGGCGAGAGCTGGGACCTCCCAGTCAGGAGACCTGGGTTCCAGGCACGGCTCTGTCACTGACATGCTGTGCACCTACAGACAAAGCCATTCCTCTCCCGGAGTCTCATTTGCCCCATTTATCCAAGGGAGGCCAGAATGGCGGCTTTGGTGACTTCACAGAACAATCTAAGGCTCGGGAAGCAATAGGAGTGCTTTAACACTGGCATTCCCCAGGGAGGTCAGGCAGCTGGAGGGCTGATGGGAGGGAAGGAGGGAGATGTGACTTCCATGCTTGCAAACCATTTGGACAATCTAAATCTGTTACCTCTTCAAAAACATTGACAGTATTTAAATATTAAATATGTACTAGACAAATTAACAATACAGACAATGCAGGTAATGTTCTGCTTCTTGACTGGGTTATACAGGTGCTTGGTTACACAGGTGTGTGCACCTTGTGAAAACTCATTGACCTGGGCAGAATATGTGTAACTTTCCATACATATGTGCCTCGGTAAAAAGGCCTTTTTGAAATAGAGACTAAAGAATACAATAGGCCAAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAAAATTAAGTCGGTGTGGTGGTGGGCGCCTGTGATCCCAGTTACTCAGAAGGCTGAGGCACGAGAATTGCTCGAACCTGGGAGACAGGGGTTGCAGTGAGCCGAGATCATGACGCTGCACTCCAGCCCGGGCAAGAGTGAAACTCTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATACAACAACTCTCCAACCATAAACAGCTGCCACTGTACTCTTTTGTGTGTATTTAACCCTTAAGCAATCCTAAAAGGCATGCTGCTATAACCTCCATGCATAAATAAAGGGACTGGAGATTTAAGCTCCAAGTCACACAGACTGCAGGCGGCAGAGCTGGTGCTCACACCACGGCTGGGTCCTTTCTGTCCCCAGCCAGTAATGCTCCGAACCAGGGCTCCTCTGATAGTCCCAGGCCTCAGACTTATTCCTCTCTTCTCATTTCAGTAATATTTAAAACTTATCTTACGCATTCAGTGATAAAGTCCCAAATTTCTCTTTTGCTATGACAAATTGTGGTGAAAGGCATTTCCATAAAGCTGAGAGAGTTTCCTGAGTCAGGGTTTCTTGAGCTTGAGTCTTTGAGGGCTTTCCCCTTTCCCTGGAGGCCTGCAGGTGACCCGGTTTGAGACAGCTGCCCTGCAGGGCACACTCAGTCCC |
Task1_train_27899 | A variant was discovered on Chromosome 20, affecting ZNF335 (zinc finger protein 335). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Microcephalic primordial dwarfism due to ZNF335 deficiency | AGCTGGAGCTACTGTCCCAGGGGATCTGTCTCCAACCTCTGCTCACACACCACCTCTCATGAAGCGAACTCCTTCCTGAAGCTCGGGATCGAATTATAATCCTGTGAGCAATCATTAGGTGCATAAGAACTTGTGTTTCTCTGTCTCAGGTGCACTCTCAGCCCTGTGAGAGATGAGTAGGATCTGGAGTCCAGAAGATCTTGGATCATTTACTGAACTCCTTTAGGTACACAATTTCCTTCAATCCCTTCAACAACTGTCCCCGTTTGATGAGAAACTAAAGCTCACAAGAGGTAAGAGGCTGAGCTGGGGACCTCAAGGCCTGGTACTGTCCTGTTCTAAGCCAAATGAACTGGGGTGAACTGCCTTTCTGCTCATGCCTGTAGTGTGCAGCAAATGGGGCTGGCTCAGAGCAGGAGCACGGTAAGTGGGAACCATGGTTATCCCGGGCCTCCACTTCCCCACCCAACCTGGCCTCTCTTGCCCAGGTCCCTCCCACCCCCACACTGACCGGTCCCGGCTGTGCACAGCGGCGTGCCGAATGACGTCCTTCCGGTAGACACTGGTGTAGCTGCACTCGTCACACTTGTAGGGCTTGCTGCCCACGTGGTTGAACATGTGCTCCTGGGAGACAGACAAAAGGATGGTGGGCTGGGGCTTGGCCTCCTCTCCCATCCCCGTCCCCACCATGCCTGTGGCCACAGTCTTAGGGTTGCTGCGGGAGCAGCTCACAGAACACAGGCATGTGGACAACACACCCCGACGCAAGGGTCAAAACCTAGGAAGGCCCGGGGACTGTCCCCAGCGAGAGCACCCACTCTGTGCCAGGCTCTGTGCTGGCTCACAACTTGACAAAGAAGGAACCTGAGTCTCAGGGTGGAGGGACCTTGCGATGGCAGAGCTTGGAGCTGAAGCCAGGCAGCATGGCGCCGCAGCCTCCACCTCTCCCACTGCGTCACGAGACATCTTCTCTGCAGAACCCACATAACAGCCCACAGCACAGCGTGCACAGAGCACAGGGGCTCGCTCTGACCACCGTGCCCGGAAGTACCCTCTCCCACAGCTGCCAACTTGCACATTGGCCAGGCCGAGCCACAGTTTCCTGGGGGTCAGTAGAATGGGACTATGGACACCTACGACCTCATTGGGCTGCAATAAGGATTTAATTATCCAGTTACTGCATAAAAGGCTCAGGGCTGCTGCAGGCCACATGGTAGCTTGTGTTAAGGAGAAAAAGGAACCGTTTTTTTTTTTTTGTTTGTTTGTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCATCCCAAGTAGTTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCGCAAAGTGCTGGGATTACAGGAGCAAGCCACTGCACCTGGCCTAAAAGGAACCCTTTTCTTGAGACACATGACTGCCATCTGCTGGAAATCTTTCTAACACATGGAATCAGATGAAAACAGTTTTATGGCGTCTGTGGTGGTGAAGATATGCTGCCACTGTGCACTGTGCCGCCTGCAAAACCGCCTGTGGCAGCCCTTCCCAGCCCCTCCCCACATTCCCGCAAGCTCTGAGGAGCTGAGCGTTCTTCGGTACGCCAGTGAGCCAGACACGCGTTCTGAAGAGCAGCAGGAGAGCGTGACCCAGAATGCTCTGTGACTCCATTCTCCCTCAGTGGCACCAGCTGGCCTCTGCTTGCCTTCTTCACCCTCCCATGAGCCCCAAGCCTCTTTGGCTCCCGCACCTTGAGCGAGGACCAGCGGCGGGAACGATAGCTGCACTGCAGGCACTTGAAGAGCTGGGGATCGCCAGCCTCATGGGAGTTGACGTGGAAGCGCAGGTCCTCGTGGGACAGAAAGCGAGAACCACAGATGCGGCACAGGAAGGGCCTCAAAAGTGGTTTGGGCGACTTGTAATAGTACCTGCAGGATGAGAGTGTGGCGGAAAGGTCTGGTGGGGTTGGTGGCTTAACCACATGCATGCCCCACCCTCACCTCTGCTCCACATACTTGCGGTATTTCTTGCCTAGGAAGCGCCTGGAAGGTCGACCTCGGCGCCGGGGCAGAGTGTCATGCTCATCCGGGCAGGAGGGGGCTGCGTTCTCTGCATCTGACTGGCTCACACCAGCTTCCACAGGGGTCCTGCTCACCTTGCCCATGGCCACCAGGTGTCCTGGGCCTGAGGAGCTGGGAGCCTCGGGATCCTGTGGCTCTGGAGGGCTCTGTCCACTCTGGGAACTCACTAGAGGCTCTCCTTCCACACCTGCCACGGACATGCCAGGTCACAAGCCAGCCACTGACACACCAGGACAGACGTGGACAAGTGGGCCAGAGGCCAGCCAAAATATCCTCCCACCCACTCATCACAGACCACTGATGGGTGCATTGAGTCACATGACACAGACAGCCTGTGGTTAGAGGGCAGCATGGATACTACCGCCCAACAGCCGACATTCTGTCAGCACAGTAGGACCTGGCCTGGATTAGAGCAACGGCGAGAGCTGGGACCTCCCAGTCAGGAGACCTGGGTTCCAGGCACGGCTCTGTCACTGACATGCTGTGCACCTACAGACAAAGCCATTCCTCTCCCGGAGTCTCATTTGCCCCATTTATCCAAGGGAGGCCAGAATGGCGGCTTTGGTGACTTCACAGAACAATCTAAGGCTCGGGAAGCAATAGGAGTGCTTTAACACTGGCATTCCCCAGGGAGGTCAGGCAGCTGGAGGGCTGATGGGAGGGAAGGAGGGAGATGTGACTTCCATGCTTGCAAACCATTTGGACAATCTAAATCTGTTACCTCTTCAAAAACATTGACAGTATTTAAATATTAAATATGTACTAGACAAATTAACAATACAGACAATGCAGGTAATGTTCTGCTTCTTGACTGGGTTATACAGGTGCTTGGTTACACAGGTGTGTGCACCTTGTGAAAACTCATTGACCTGGGCAGAATATGTGTAACTTTCCATACATATGTGCCTCGGTAAAAAGGCCTTTTTGAAATAGAGACTAAAGAATACAATAGGCCAAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAAAATTAAGTCGGTGTGGTGGTGGGCGCCTGTGATCCCAGTTACTCAGAAGGCTGAGGCACGAGAATTGCTCGAACCTGGGAGACAGGGGTTGCAGTGAGCCGAGATCATGACGCTGCACTCCAGCCCGGGCAAGAGTGAAACTCTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATACAACAACTCTCCAACCATAAACAGCTGCCACTGTACTCTTTTGTGTGTATTTAACCCTTAAGCAATCCTAAAAGGCATGCTGCTATAACCTCCATGCATAAATAAAGGGACTGGAGATTTAAGCTCCAAGTCACACAGACTGCAGGCGGCAGAGCTGGTGCTCACACCACGGCTGGGTCCTTTCTGTCCCCAGCCAGTAATGCTCCGAACCAGGGCTCCTCTGATAGTCCCAGGCCTCAGACTTATTCCTCTCTTCTCATTTCAGTAATATTTAAAACTTATCTTACGCATTCAGTGATAAAGTCCCAAATTTCTCTTTTGCTATGACAAATTGTGGTGAAAGGCATTTCCATAAAGCTGAGAGAGTTTCCTGAGTCAGGGTTTCTTGAGCTTGAGTCTTTGAGGGCTTTCCCCTTTCCCTGGAGGCCTGCAGGTGACCCGGTTTGAGACAGCTGCCCTGCAGGGCACACTCAGTCCCCAGAACTCCACAGAGACAAGCAGGGAGAGAGGCCACTCCTGACCCACCCACACGAGCCCCTCCCAAGACCAAGCCTCACCATCTGGGAGGTCTGAGATCTCCAGGC | AGCTGGAGCTACTGTCCCAGGGGATCTGTCTCCAACCTCTGCTCACACACCACCTCTCATGAAGCGAACTCCTTCCTGAAGCTCGGGATCGAATTATAATCCTGTGAGCAATCATTAGGTGCATAAGAACTTGTGTTTCTCTGTCTCAGGTGCACTCTCAGCCCTGTGAGAGATGAGTAGGATCTGGAGTCCAGAAGATCTTGGATCATTTACTGAACTCCTTTAGGTACACAATTTCCTTCAATCCCTTCAACAACTGTCCCCGTTTGATGAGAAACTAAAGCTCACAAGAGGTAAGAGGCTGAGCTGGGGACCTCAAGGCCTGGTACTGTCCTGTTCTAAGCCAAATGAACTGGGGTGAACTGCCTTTCTGCTCATGCCTGTAGTGTGCAGCAAATGGGGCTGGCTCAGAGCAGGAGCACGGTAAGTGGGAACCATGGTTATCCCGGGCCTCCACTTCCCCACCCAACCTGGCCTCTCTTGCCCAGGTCCCTCCCACCCCCACACTGACCGGTCCCGGCTGTGCACAGCGGCGTGCCGAATGACGTCCTTCCGGTAGACACTGGTGTAGCTGCACTCGTCACACTTGTAGGGCTTGCTGCCCACGTGGTTGAACATGTGCTCCTGGGAGACAGACAAAAGGATGGTGGGCTGGGGCTTGGCCTCCTCTCCCATCCCCGTCCCCACCATGCCTGTGGCCACAGTCTTAGGGTTGCTGCGGGAGCAGCTCACAGAACACAGGCATGTGGACAACACACCCCGACGCAAGGGTCAAAACCTAGGAAGGCCCGGGGACTGTCCCCAGCGAGAGCACCCACTCTGTGCCAGGCTCTGTGCTGGCTCACAACTTGACAAAGAAGGAACCTGAGTCTCAGGGTGGAGGGACCTTGCGATGGCAGAGCTTGGAGCTGAAGCCAGGCAGCATGGCGCCGCAGCCTCCACCTCTCCCACTGCGTCACGAGACATCTTCTCTGCAGAACCCACATAACAGCCCACAGCACAGCGTGCACAGAGCACAGGGGCTCGCTCTGACCACCGTGCCCGGAAGTACCCTCTCCCACAGCTGCCAACTTGCACATTGGCCAGGCCGAGCCACAGTTTCCTGGGGGTCAGTAGAATGGGACTATGGACACCTACGACCTCATTGGGCTGCAATAAGGATTTAATTATCCAGTTACTGCATAAAAGGCTCAGGGCTGCTGCAGGCCACATGGTAGCTTGTGTTAAGGAGAAAAAGGAACCGTTTTTTTTTTTTTGTTTGTTTGTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCATCCCAAGTAGTTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCGCAAAGTGCTGGGATTACAGGAGCAAGCCACTGCACCTGGCCTAAAAGGAACCCTTTTCTTGAGACACATGACTGCCATCTGCTGGAAATCTTTCTAACACATGGAATCAGATGAAAACAGTTTTATGGCGTCTGTGGTGGTGAAGATATGCTGCCACTGTGCACTGTGCCGCCTGCAAAACCGCCTGTGGCAGCCCTTCCCAGCCCCTCCCCACATTCCCGCAAGCTCTGAGGAGCTGAGCGTTCTTCGGTACGCCAGTGAGCCAGACACGCGTTCTGAAGAGCAGCAGGAGAGCGTGACCCAGAATGCTCTGTGACTCCATTCTCCCTCAGTGGCACCAGCTGGCCTCTGCTTGCCTTCTTCACCCTCCCATGAGCCCCAAGCCTCTTTGGCTCCCGCACCTTGAGCGAGGACCAGCGGCGGGAACGATAGCTGCACTGCAGGCACTTGAAGAGCTGGGGATCGCCAGCCTCATGGGAGTTGACGTGGAAGCGCAGGTCCTCGTGGGACAGAAAGCGAGAACCACAGATGCGGCGCAGGAAGGGCCTCAAAAGTGGTTTGGGCGACTTGTAATAGTACCTGCAGGATGAGAGTGTGGCGGAAAGGTCTGGTGGGGTTGGTGGCTTAACCACATGCATGCCCCACCCTCACCTCTGCTCCACATACTTGCGGTATTTCTTGCCTAGGAAGCGCCTGGAAGGTCGACCTCGGCGCCGGGGCAGAGTGTCATGCTCATCCGGGCAGGAGGGGGCTGCGTTCTCTGCATCTGACTGGCTCACACCAGCTTCCACAGGGGTCCTGCTCACCTTGCCCATGGCCACCAGGTGTCCTGGGCCTGAGGAGCTGGGAGCCTCGGGATCCTGTGGCTCTGGAGGGCTCTGTCCACTCTGGGAACTCACTAGAGGCTCTCCTTCCACACCTGCCACGGACATGCCAGGTCACAAGCCAGCCACTGACACACCAGGACAGACGTGGACAAGTGGGCCAGAGGCCAGCCAAAATATCCTCCCACCCACTCATCACAGACCACTGATGGGTGCATTGAGTCACATGACACAGACAGCCTGTGGTTAGAGGGCAGCATGGATACTACCGCCCAACAGCCGACATTCTGTCAGCACAGTAGGACCTGGCCTGGATTAGAGCAACGGCGAGAGCTGGGACCTCCCAGTCAGGAGACCTGGGTTCCAGGCACGGCTCTGTCACTGACATGCTGTGCACCTACAGACAAAGCCATTCCTCTCCCGGAGTCTCATTTGCCCCATTTATCCAAGGGAGGCCAGAATGGCGGCTTTGGTGACTTCACAGAACAATCTAAGGCTCGGGAAGCAATAGGAGTGCTTTAACACTGGCATTCCCCAGGGAGGTCAGGCAGCTGGAGGGCTGATGGGAGGGAAGGAGGGAGATGTGACTTCCATGCTTGCAAACCATTTGGACAATCTAAATCTGTTACCTCTTCAAAAACATTGACAGTATTTAAATATTAAATATGTACTAGACAAATTAACAATACAGACAATGCAGGTAATGTTCTGCTTCTTGACTGGGTTATACAGGTGCTTGGTTACACAGGTGTGTGCACCTTGTGAAAACTCATTGACCTGGGCAGAATATGTGTAACTTTCCATACATATGTGCCTCGGTAAAAAGGCCTTTTTGAAATAGAGACTAAAGAATACAATAGGCCAAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAAAATTAAGTCGGTGTGGTGGTGGGCGCCTGTGATCCCAGTTACTCAGAAGGCTGAGGCACGAGAATTGCTCGAACCTGGGAGACAGGGGTTGCAGTGAGCCGAGATCATGACGCTGCACTCCAGCCCGGGCAAGAGTGAAACTCTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATACAACAACTCTCCAACCATAAACAGCTGCCACTGTACTCTTTTGTGTGTATTTAACCCTTAAGCAATCCTAAAAGGCATGCTGCTATAACCTCCATGCATAAATAAAGGGACTGGAGATTTAAGCTCCAAGTCACACAGACTGCAGGCGGCAGAGCTGGTGCTCACACCACGGCTGGGTCCTTTCTGTCCCCAGCCAGTAATGCTCCGAACCAGGGCTCCTCTGATAGTCCCAGGCCTCAGACTTATTCCTCTCTTCTCATTTCAGTAATATTTAAAACTTATCTTACGCATTCAGTGATAAAGTCCCAAATTTCTCTTTTGCTATGACAAATTGTGGTGAAAGGCATTTCCATAAAGCTGAGAGAGTTTCCTGAGTCAGGGTTTCTTGAGCTTGAGTCTTTGAGGGCTTTCCCCTTTCCCTGGAGGCCTGCAGGTGACCCGGTTTGAGACAGCTGCCCTGCAGGGCACACTCAGTCCCCAGAACTCCACAGAGACAAGCAGGGAGAGAGGCCACTCCTGACCCACCCACACGAGCCCCTCCCAAGACCAAGCCTCACCATCTGGGAGGTCTGAGATCTCCAGGC |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.